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1.

rs1491589251 has merged into rs11304210 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
    Chromosome:
    17:17811546 (GRCh38)
    17:17714860 (GRCh37)
    Canonical SPDI:
    NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:17811536:GGGGGGGGGGG:GGGGGGGGGGGGGGG
    Gene:
    SREBF1 (Varview), RAI1 (Varview)
    Functional Consequence:
    downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGGGGGGG=0./0 (ALFA)
    -=0.0132/51 (ALSPAC)
    G=0.3339/1672 (1000Genomes)
    G=0.4211/16 (GENOME_DK)
    HGVS:
    NC_000017.11:g.17811546_17811547del, NC_000017.11:g.17811547del, NC_000017.11:g.17811547dup, NC_000017.11:g.17811546_17811547dup, NC_000017.11:g.17811545_17811547dup, NC_000017.11:g.17811544_17811547dup, NC_000017.10:g.17714860_17714861del, NC_000017.10:g.17714861del, NC_000017.10:g.17714861dup, NC_000017.10:g.17714860_17714861dup, NC_000017.10:g.17714859_17714861dup, NC_000017.10:g.17714858_17714861dup, NG_007101.2:g.135074_135075del, NG_007101.2:g.135075del, NG_007101.2:g.135075dup, NG_007101.2:g.135074_135075dup, NG_007101.2:g.135073_135075dup, NG_007101.2:g.135072_135075dup, NG_029029.1:g.30474_30475del, NG_029029.1:g.30475del, NG_029029.1:g.30475dup, NG_029029.1:g.30474_30475dup, NG_029029.1:g.30473_30475dup, NG_029029.1:g.30472_30475dup, NM_004176.5:c.*1084_*1085del, NM_004176.5:c.*1085del, NM_004176.5:c.*1085dup, NM_004176.5:c.*1084_*1085dup, NM_004176.5:c.*1083_*1085dup, NM_004176.5:c.*1082_*1085dup, NM_004176.4:c.*1084_*1085del, NM_004176.4:c.*1085del, NM_004176.4:c.*1085dup, NM_004176.4:c.*1084_*1085dup, NM_004176.4:c.*1083_*1085dup, NM_004176.4:c.*1082_*1085dup, NM_001005291.3:c.*1084_*1085del, NM_001005291.3:c.*1085del, NM_001005291.3:c.*1085dup, NM_001005291.3:c.*1084_*1085dup, NM_001005291.3:c.*1083_*1085dup, NM_001005291.3:c.*1082_*1085dup, NM_001005291.2:c.*1084_*1085del, NM_001005291.2:c.*1085del, NM_001005291.2:c.*1085dup, NM_001005291.2:c.*1084_*1085dup, NM_001005291.2:c.*1083_*1085dup, NM_001005291.2:c.*1082_*1085dup, NM_001321096.3:c.*1084_*1085del, NM_001321096.3:c.*1085del, NM_001321096.3:c.*1085dup, NM_001321096.3:c.*1084_*1085dup, NM_001321096.3:c.*1083_*1085dup, NM_001321096.3:c.*1082_*1085dup, NM_001321096.1:c.*1084_*1085del, NM_001321096.1:c.*1085del, NM_001321096.1:c.*1085dup, NM_001321096.1:c.*1084_*1085dup, NM_001321096.1:c.*1083_*1085dup, NM_001321096.1:c.*1082_*1085dup, NM_001388385.1:c.*1084_*1085del, NM_001388385.1:c.*1085del, NM_001388385.1:c.*1085dup, NM_001388385.1:c.*1084_*1085dup, NM_001388385.1:c.*1083_*1085dup, NM_001388385.1:c.*1082_*1085dup, NM_001388387.1:c.*1084_*1085del, NM_001388387.1:c.*1085del, NM_001388387.1:c.*1085dup, NM_001388387.1:c.*1084_*1085dup, NM_001388387.1:c.*1083_*1085dup, NM_001388387.1:c.*1082_*1085dup, NM_001388389.1:c.*1084_*1085del, NM_001388389.1:c.*1085del, NM_001388389.1:c.*1085dup, NM_001388389.1:c.*1084_*1085dup, NM_001388389.1:c.*1083_*1085dup, NM_001388389.1:c.*1082_*1085dup, NM_001388390.1:c.*1084_*1085del, NM_001388390.1:c.*1085del, NM_001388390.1:c.*1085dup, NM_001388390.1:c.*1084_*1085dup, NM_001388390.1:c.*1083_*1085dup, NM_001388390.1:c.*1082_*1085dup, NM_001388391.1:c.*1084_*1085del, NM_001388391.1:c.*1085del, NM_001388391.1:c.*1085dup, NM_001388391.1:c.*1084_*1085dup, NM_001388391.1:c.*1083_*1085dup, NM_001388391.1:c.*1082_*1085dup, NM_001388386.1:c.*909_*910del, NM_001388386.1:c.*910del, NM_001388386.1:c.*910dup, NM_001388386.1:c.*909_*910dup, NM_001388386.1:c.*908_*910dup, NM_001388386.1:c.*907_*910dup, NM_001388388.1:c.*909_*910del, NM_001388388.1:c.*910del, NM_001388388.1:c.*910dup, NM_001388388.1:c.*909_*910dup, NM_001388388.1:c.*908_*910dup, NM_001388388.1:c.*907_*910dup, NR_170943.1:n.4509_4510del, NR_170943.1:n.4510del, NR_170943.1:n.4510dup, NR_170943.1:n.4509_4510dup, NR_170943.1:n.4508_4510dup, NR_170943.1:n.4507_4510dup, NM_001388392.1:c.*1084_*1085del, NM_001388392.1:c.*1085del, NM_001388392.1:c.*1085dup, NM_001388392.1:c.*1084_*1085dup, NM_001388392.1:c.*1083_*1085dup, NM_001388392.1:c.*1082_*1085dup, NM_001388393.1:c.*1084_*1085del, NM_001388393.1:c.*1085del, NM_001388393.1:c.*1085dup, NM_001388393.1:c.*1084_*1085dup, NM_001388393.1:c.*1083_*1085dup, NM_001388393.1:c.*1082_*1085dup, NM_001388394.1:c.*1084_*1085del, NM_001388394.1:c.*1085del, NM_001388394.1:c.*1085dup, NM_001388394.1:c.*1084_*1085dup, NM_001388394.1:c.*1083_*1085dup, NM_001388394.1:c.*1082_*1085dup, NR_170945.1:n.3804_3805del, NR_170945.1:n.3805del, NR_170945.1:n.3805dup, NR_170945.1:n.3804_3805dup, NR_170945.1:n.3803_3805dup, NR_170945.1:n.3802_3805dup, NR_170944.1:n.3714_3715del, NR_170944.1:n.3715del, NR_170944.1:n.3715dup, NR_170944.1:n.3714_3715dup, NR_170944.1:n.3713_3715dup, NR_170944.1:n.3712_3715dup, NR_170990.1:n.3660_3661del, NR_170990.1:n.3661del, NR_170990.1:n.3661dup, NR_170990.1:n.3660_3661dup, NR_170990.1:n.3659_3661dup, NR_170990.1:n.3658_3661dup, XM_047436580.1:c.*1084_*1085del, XM_047436580.1:c.*1085del, XM_047436580.1:c.*1085dup, XM_047436580.1:c.*1084_*1085dup, XM_047436580.1:c.*1083_*1085dup, XM_047436580.1:c.*1082_*1085dup

    2.

    rs1491543593 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:17750689 (GRCh38)
      17:17654003 (GRCh37)
      Canonical SPDI:
      NC_000017.11:17750688:CA:
      Gene:
      RAI1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:

      3.

      rs1491527167 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        17:17811401 (GRCh38)
        17:17714715 (GRCh37)
        Canonical SPDI:
        NC_000017.11:17811400:CA:
        Gene:
        SREBF1 (Varview), RAI1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.17811401_17811402del, NC_000017.10:g.17714715_17714716del, NG_007101.2:g.134929_134930del, NM_030665.4:c.*1420_*1421del, NM_030665.3:c.*1420_*1421del, NG_029029.1:g.30610_30611del, NM_004176.5:c.*1220_*1221del, NM_004176.4:c.*1220_*1221del, NM_001005291.3:c.*1220_*1221del, NM_001005291.2:c.*1220_*1221del, NM_001321096.3:c.*1220_*1221del, NM_001321096.1:c.*1220_*1221del, NM_001388385.1:c.*1220_*1221del, NM_001388387.1:c.*1220_*1221del, NM_001388389.1:c.*1220_*1221del, NM_001388390.1:c.*1220_*1221del, NM_001388391.1:c.*1220_*1221del, NM_001388386.1:c.*1045_*1046del, NM_001388388.1:c.*1045_*1046del, NR_170943.1:n.4645_4646del, NM_001388392.1:c.*1220_*1221del, NM_001388393.1:c.*1220_*1221del, NM_001388394.1:c.*1220_*1221del, NR_170945.1:n.3940_3941del, NR_170944.1:n.3850_3851del, NR_170990.1:n.3796_3797del, XM_017024028.3:c.*1420_*1421del, XM_017024027.2:c.*1420_*1421del, XM_047435151.1:c.*1420_*1421del, XM_047435149.1:c.*1420_*1421del, XM_047435152.1:c.*1420_*1421del, XM_047435153.1:c.*1420_*1421del, XM_047435150.1:c.*1420_*1421del, NM_017574.1:c.*521_*522del, XM_047436580.1:c.*1220_*1221del, NM_152256.1:c.*110_*111del

        4.

        rs1491489489 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A,AA,AAA [Show Flanks]
          Chromosome:
          17:17811401 (GRCh38)
          17:17714716 (GRCh37)
          Canonical SPDI:
          NC_000017.11:17811401:A:AA,NC_000017.11:17811401:A:AAA,NC_000017.11:17811401:A:AAAA
          Gene:
          SREBF1 (Varview), RAI1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAA=0./0 (ALFA)
          A=0.00018/3 (TOMMO)
          HGVS:
          NC_000017.11:g.17811402dup, NC_000017.11:g.17811402_17811403insAA, NC_000017.11:g.17811402_17811403insAAA, NC_000017.10:g.17714716dup, NC_000017.10:g.17714716_17714717insAA, NC_000017.10:g.17714716_17714717insAAA, NG_007101.2:g.134930dup, NG_007101.2:g.134930_134931insAA, NG_007101.2:g.134930_134931insAAA, NM_030665.4:c.*1421dup, NM_030665.4:c.*1421_*1422insAA, NM_030665.4:c.*1421_*1422insAAA, NM_030665.3:c.*1421dup, NM_030665.3:c.*1421_*1422insAA, NM_030665.3:c.*1421_*1422insAAA, NG_029029.1:g.30610dup, NG_029029.1:g.30610_30611insTT, NG_029029.1:g.30610_30611insTTT, NM_004176.5:c.*1220dup, NM_004176.5:c.*1220_*1221insTT, NM_004176.5:c.*1220_*1221insTTT, NM_004176.4:c.*1220dup, NM_004176.4:c.*1220_*1221insTT, NM_004176.4:c.*1220_*1221insTTT, NM_001005291.3:c.*1220dup, NM_001005291.3:c.*1220_*1221insTT, NM_001005291.3:c.*1220_*1221insTTT, NM_001005291.2:c.*1220dup, NM_001005291.2:c.*1220_*1221insTT, NM_001005291.2:c.*1220_*1221insTTT, NM_001321096.3:c.*1220dup, NM_001321096.3:c.*1220_*1221insTT, NM_001321096.3:c.*1220_*1221insTTT, NM_001321096.1:c.*1220dup, NM_001321096.1:c.*1220_*1221insTT, NM_001321096.1:c.*1220_*1221insTTT, NM_001388385.1:c.*1220dup, NM_001388385.1:c.*1220_*1221insTT, NM_001388385.1:c.*1220_*1221insTTT, NM_001388387.1:c.*1220dup, NM_001388387.1:c.*1220_*1221insTT, NM_001388387.1:c.*1220_*1221insTTT, NM_001388389.1:c.*1220dup, NM_001388389.1:c.*1220_*1221insTT, NM_001388389.1:c.*1220_*1221insTTT, NM_001388390.1:c.*1220dup, NM_001388390.1:c.*1220_*1221insTT, NM_001388390.1:c.*1220_*1221insTTT, NM_001388391.1:c.*1220dup, NM_001388391.1:c.*1220_*1221insTT, NM_001388391.1:c.*1220_*1221insTTT, NM_001388386.1:c.*1045dup, NM_001388386.1:c.*1045_*1046insTT, NM_001388386.1:c.*1045_*1046insTTT, NM_001388388.1:c.*1045dup, NM_001388388.1:c.*1045_*1046insTT, NM_001388388.1:c.*1045_*1046insTTT, NR_170943.1:n.4645dup, NR_170943.1:n.4645_4646insTT, NR_170943.1:n.4645_4646insTTT, NM_001388392.1:c.*1220dup, NM_001388392.1:c.*1220_*1221insTT, NM_001388392.1:c.*1220_*1221insTTT, NM_001388393.1:c.*1220dup, NM_001388393.1:c.*1220_*1221insTT, NM_001388393.1:c.*1220_*1221insTTT, NM_001388394.1:c.*1220dup, NM_001388394.1:c.*1220_*1221insTT, NM_001388394.1:c.*1220_*1221insTTT, NR_170945.1:n.3940dup, NR_170945.1:n.3940_3941insTT, NR_170945.1:n.3940_3941insTTT, NR_170944.1:n.3850dup, NR_170944.1:n.3850_3851insTT, NR_170944.1:n.3850_3851insTTT, NR_170990.1:n.3796dup, NR_170990.1:n.3796_3797insTT, NR_170990.1:n.3796_3797insTTT, XM_017024028.3:c.*1421dup, XM_017024028.3:c.*1421_*1422insAA, XM_017024028.3:c.*1421_*1422insAAA, XM_017024027.2:c.*1421dup, XM_017024027.2:c.*1421_*1422insAA, XM_017024027.2:c.*1421_*1422insAAA, XM_047435151.1:c.*1421dup, XM_047435151.1:c.*1421_*1422insAA, XM_047435151.1:c.*1421_*1422insAAA, XM_047435149.1:c.*1421dup, XM_047435149.1:c.*1421_*1422insAA, XM_047435149.1:c.*1421_*1422insAAA, XM_047435152.1:c.*1421dup, XM_047435152.1:c.*1421_*1422insAA, XM_047435152.1:c.*1421_*1422insAAA, XM_047435153.1:c.*1421dup, XM_047435153.1:c.*1421_*1422insAA, XM_047435153.1:c.*1421_*1422insAAA, XM_047435150.1:c.*1421dup, XM_047435150.1:c.*1421_*1422insAA, XM_047435150.1:c.*1421_*1422insAAA, NM_017574.1:c.*522dup, NM_017574.1:c.*522_*523insAA, NM_017574.1:c.*522_*523insAAA, XM_047436580.1:c.*1220dup, XM_047436580.1:c.*1220_*1221insTT, XM_047436580.1:c.*1220_*1221insTTT, NM_152256.1:c.*111dup, NM_152256.1:c.*111_*112insAA, NM_152256.1:c.*111_*112insAAA

          5.

          rs1491487948 has merged into rs56152905 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            17:17775215 (GRCh38)
            17:17678529 (GRCh37)
            Canonical SPDI:
            NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17775201:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            RAI1 (Varview), LOC124903942 (Varview)
            Functional Consequence:
            500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.17775215_17775221del, NC_000017.11:g.17775216_17775221del, NC_000017.11:g.17775219_17775221del, NC_000017.11:g.17775220_17775221del, NC_000017.11:g.17775221del, NC_000017.11:g.17775221dup, NC_000017.11:g.17775220_17775221dup, NC_000017.11:g.17775219_17775221dup, NC_000017.11:g.17775218_17775221dup, NC_000017.11:g.17775215_17775221dup, NC_000017.11:g.17775214_17775221dup, NC_000017.10:g.17678529_17678535del, NC_000017.10:g.17678530_17678535del, NC_000017.10:g.17678533_17678535del, NC_000017.10:g.17678534_17678535del, NC_000017.10:g.17678535del, NC_000017.10:g.17678535dup, NC_000017.10:g.17678534_17678535dup, NC_000017.10:g.17678533_17678535dup, NC_000017.10:g.17678532_17678535dup, NC_000017.10:g.17678529_17678535dup, NC_000017.10:g.17678528_17678535dup, NG_007101.2:g.98743_98749del, NG_007101.2:g.98744_98749del, NG_007101.2:g.98747_98749del, NG_007101.2:g.98748_98749del, NG_007101.2:g.98749del, NG_007101.2:g.98749dup, NG_007101.2:g.98748_98749dup, NG_007101.2:g.98747_98749dup, NG_007101.2:g.98746_98749dup, NG_007101.2:g.98743_98749dup, NG_007101.2:g.98742_98749dup

            6.

            rs1491485179 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              17:17808438 (GRCh38)
              17:17711753 (GRCh37)
              Canonical SPDI:
              NC_000017.11:17808438::C
              Gene:
              RAI1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              C=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1491480325 has merged into rs771760855 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                17:17724415 (GRCh38)
                17:17627729 (GRCh37)
                Canonical SPDI:
                NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17724406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                RAI1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000017.11:g.17724415_17724425del, NC_000017.11:g.17724416_17724425del, NC_000017.11:g.17724417_17724425del, NC_000017.11:g.17724418_17724425del, NC_000017.11:g.17724419_17724425del, NC_000017.11:g.17724420_17724425del, NC_000017.11:g.17724421_17724425del, NC_000017.11:g.17724422_17724425del, NC_000017.11:g.17724423_17724425del, NC_000017.11:g.17724424_17724425del, NC_000017.11:g.17724425del, NC_000017.11:g.17724425dup, NC_000017.11:g.17724424_17724425dup, NC_000017.11:g.17724423_17724425dup, NC_000017.11:g.17724422_17724425dup, NC_000017.11:g.17724421_17724425dup, NC_000017.11:g.17724420_17724425dup, NC_000017.11:g.17724419_17724425dup, NC_000017.11:g.17724418_17724425dup, NC_000017.11:g.17724416_17724425dup, NC_000017.11:g.17724414_17724425dup, NC_000017.10:g.17627729_17627739del, NC_000017.10:g.17627730_17627739del, NC_000017.10:g.17627731_17627739del, NC_000017.10:g.17627732_17627739del, NC_000017.10:g.17627733_17627739del, NC_000017.10:g.17627734_17627739del, NC_000017.10:g.17627735_17627739del, NC_000017.10:g.17627736_17627739del, NC_000017.10:g.17627737_17627739del, NC_000017.10:g.17627738_17627739del, NC_000017.10:g.17627739del, NC_000017.10:g.17627739dup, NC_000017.10:g.17627738_17627739dup, NC_000017.10:g.17627737_17627739dup, NC_000017.10:g.17627736_17627739dup, NC_000017.10:g.17627735_17627739dup, NC_000017.10:g.17627734_17627739dup, NC_000017.10:g.17627733_17627739dup, NC_000017.10:g.17627732_17627739dup, NC_000017.10:g.17627730_17627739dup, NC_000017.10:g.17627728_17627739dup, NG_007101.2:g.47943_47953del, NG_007101.2:g.47944_47953del, NG_007101.2:g.47945_47953del, NG_007101.2:g.47946_47953del, NG_007101.2:g.47947_47953del, NG_007101.2:g.47948_47953del, NG_007101.2:g.47949_47953del, NG_007101.2:g.47950_47953del, NG_007101.2:g.47951_47953del, NG_007101.2:g.47952_47953del, NG_007101.2:g.47953del, NG_007101.2:g.47953dup, NG_007101.2:g.47952_47953dup, NG_007101.2:g.47951_47953dup, NG_007101.2:g.47950_47953dup, NG_007101.2:g.47949_47953dup, NG_007101.2:g.47948_47953dup, NG_007101.2:g.47947_47953dup, NG_007101.2:g.47946_47953dup, NG_007101.2:g.47944_47953dup, NG_007101.2:g.47942_47953dup

                8.

                rs1491475690 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  17:17811536 (GRCh38)
                  17:17714850 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:17811535:TG:
                  Gene:
                  SREBF1 (Varview), RAI1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00287/34 (ALFA)
                  -=0.01168/489 (GnomAD)
                  HGVS:

                  9.

                  rs1491449359 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CG>- [Show Flanks]
                    Chromosome:
                    17:17699629 (GRCh38)
                    17:17602943 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:17699628:CG:
                    Gene:
                    RAI1 (Varview), LOC124903943 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00017/2 (ALFA)
                    -=0.00005/1 (GnomAD)
                    HGVS:

                    10.

                    rs1491447837 has merged into rs61049701 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      17:17688037 (GRCh38)
                      17:17591351 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17688025:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      RAI1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.025/125 (1000Genomes)
                      HGVS:
                      NC_000017.11:g.17688037_17688046del, NC_000017.11:g.17688039_17688046del, NC_000017.11:g.17688040_17688046del, NC_000017.11:g.17688041_17688046del, NC_000017.11:g.17688042_17688046del, NC_000017.11:g.17688043_17688046del, NC_000017.11:g.17688044_17688046del, NC_000017.11:g.17688045_17688046del, NC_000017.11:g.17688046del, NC_000017.11:g.17688046dup, NC_000017.11:g.17688045_17688046dup, NC_000017.11:g.17688044_17688046dup, NC_000017.11:g.17688043_17688046dup, NC_000017.11:g.17688042_17688046dup, NC_000017.11:g.17688041_17688046dup, NC_000017.11:g.17688040_17688046dup, NC_000017.11:g.17688039_17688046dup, NC_000017.11:g.17688038_17688046dup, NC_000017.11:g.17688037_17688046dup, NC_000017.11:g.17688036_17688046dup, NC_000017.11:g.17688035_17688046dup, NC_000017.10:g.17591351_17591360del, NC_000017.10:g.17591353_17591360del, NC_000017.10:g.17591354_17591360del, NC_000017.10:g.17591355_17591360del, NC_000017.10:g.17591356_17591360del, NC_000017.10:g.17591357_17591360del, NC_000017.10:g.17591358_17591360del, NC_000017.10:g.17591359_17591360del, NC_000017.10:g.17591360del, NC_000017.10:g.17591360dup, NC_000017.10:g.17591359_17591360dup, NC_000017.10:g.17591358_17591360dup, NC_000017.10:g.17591357_17591360dup, NC_000017.10:g.17591356_17591360dup, NC_000017.10:g.17591355_17591360dup, NC_000017.10:g.17591354_17591360dup, NC_000017.10:g.17591353_17591360dup, NC_000017.10:g.17591352_17591360dup, NC_000017.10:g.17591351_17591360dup, NC_000017.10:g.17591350_17591360dup, NC_000017.10:g.17591349_17591360dup, NG_007101.2:g.11565_11574del, NG_007101.2:g.11567_11574del, NG_007101.2:g.11568_11574del, NG_007101.2:g.11569_11574del, NG_007101.2:g.11570_11574del, NG_007101.2:g.11571_11574del, NG_007101.2:g.11572_11574del, NG_007101.2:g.11573_11574del, NG_007101.2:g.11574del, NG_007101.2:g.11574dup, NG_007101.2:g.11573_11574dup, NG_007101.2:g.11572_11574dup, NG_007101.2:g.11571_11574dup, NG_007101.2:g.11570_11574dup, NG_007101.2:g.11569_11574dup, NG_007101.2:g.11568_11574dup, NG_007101.2:g.11567_11574dup, NG_007101.2:g.11566_11574dup, NG_007101.2:g.11565_11574dup, NG_007101.2:g.11564_11574dup, NG_007101.2:g.11563_11574dup

                      11.

                      rs1491442822 has merged into rs34061744 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        17:17811414 (GRCh38)
                        17:17714728 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        SREBF1 (Varview), RAI1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000017.11:g.17811414_17811421del, NC_000017.11:g.17811415_17811421del, NC_000017.11:g.17811416_17811421del, NC_000017.11:g.17811417_17811421del, NC_000017.11:g.17811418_17811421del, NC_000017.11:g.17811419_17811421del, NC_000017.11:g.17811420_17811421del, NC_000017.11:g.17811421del, NC_000017.11:g.17811421dup, NC_000017.11:g.17811420_17811421dup, NC_000017.11:g.17811419_17811421dup, NC_000017.11:g.17811418_17811421dup, NC_000017.10:g.17714728_17714735del, NC_000017.10:g.17714729_17714735del, NC_000017.10:g.17714730_17714735del, NC_000017.10:g.17714731_17714735del, NC_000017.10:g.17714732_17714735del, NC_000017.10:g.17714733_17714735del, NC_000017.10:g.17714734_17714735del, NC_000017.10:g.17714735del, NC_000017.10:g.17714735dup, NC_000017.10:g.17714734_17714735dup, NC_000017.10:g.17714733_17714735dup, NC_000017.10:g.17714732_17714735dup, NG_007101.2:g.134942_134949del, NG_007101.2:g.134943_134949del, NG_007101.2:g.134944_134949del, NG_007101.2:g.134945_134949del, NG_007101.2:g.134946_134949del, NG_007101.2:g.134947_134949del, NG_007101.2:g.134948_134949del, NG_007101.2:g.134949del, NG_007101.2:g.134949dup, NG_007101.2:g.134948_134949dup, NG_007101.2:g.134947_134949dup, NG_007101.2:g.134946_134949dup, NM_030665.4:c.*1433_*1440del, NM_030665.4:c.*1434_*1440del, NM_030665.4:c.*1435_*1440del, NM_030665.4:c.*1436_*1440del, NM_030665.4:c.*1437_*1440del, NM_030665.4:c.*1438_*1440del, NM_030665.4:c.*1439_*1440del, NM_030665.4:c.*1440del, NM_030665.4:c.*1440dup, NM_030665.4:c.*1439_*1440dup, NM_030665.4:c.*1438_*1440dup, NM_030665.4:c.*1437_*1440dup, NM_030665.3:c.*1433_*1440del, NM_030665.3:c.*1434_*1440del, NM_030665.3:c.*1435_*1440del, NM_030665.3:c.*1436_*1440del, NM_030665.3:c.*1437_*1440del, NM_030665.3:c.*1438_*1440del, NM_030665.3:c.*1439_*1440del, NM_030665.3:c.*1440del, NM_030665.3:c.*1440dup, NM_030665.3:c.*1439_*1440dup, NM_030665.3:c.*1438_*1440dup, NM_030665.3:c.*1437_*1440dup, NG_029029.1:g.30601_30608del, NG_029029.1:g.30602_30608del, NG_029029.1:g.30603_30608del, NG_029029.1:g.30604_30608del, NG_029029.1:g.30605_30608del, NG_029029.1:g.30606_30608del, NG_029029.1:g.30607_30608del, NG_029029.1:g.30608del, NG_029029.1:g.30608dup, NG_029029.1:g.30607_30608dup, NG_029029.1:g.30606_30608dup, NG_029029.1:g.30605_30608dup, NM_004176.5:c.*1211_*1218del, NM_004176.5:c.*1212_*1218del, NM_004176.5:c.*1213_*1218del, NM_004176.5:c.*1214_*1218del, NM_004176.5:c.*1215_*1218del, NM_004176.5:c.*1216_*1218del, NM_004176.5:c.*1217_*1218del, NM_004176.5:c.*1218del, NM_004176.5:c.*1218dup, NM_004176.5:c.*1217_*1218dup, NM_004176.5:c.*1216_*1218dup, NM_004176.5:c.*1215_*1218dup, NM_004176.4:c.*1211_*1218del, NM_004176.4:c.*1212_*1218del, NM_004176.4:c.*1213_*1218del, NM_004176.4:c.*1214_*1218del, NM_004176.4:c.*1215_*1218del, NM_004176.4:c.*1216_*1218del, NM_004176.4:c.*1217_*1218del, NM_004176.4:c.*1218del, NM_004176.4:c.*1218dup, NM_004176.4:c.*1217_*1218dup, NM_004176.4:c.*1216_*1218dup, NM_004176.4:c.*1215_*1218dup, NM_001005291.3:c.*1211_*1218del, NM_001005291.3:c.*1212_*1218del, NM_001005291.3:c.*1213_*1218del, NM_001005291.3:c.*1214_*1218del, NM_001005291.3:c.*1215_*1218del, NM_001005291.3:c.*1216_*1218del, NM_001005291.3:c.*1217_*1218del, NM_001005291.3:c.*1218del, NM_001005291.3:c.*1218dup, NM_001005291.3:c.*1217_*1218dup, NM_001005291.3:c.*1216_*1218dup, NM_001005291.3:c.*1215_*1218dup, NM_001005291.2:c.*1211_*1218del, NM_001005291.2:c.*1212_*1218del, NM_001005291.2:c.*1213_*1218del, NM_001005291.2:c.*1214_*1218del, NM_001005291.2:c.*1215_*1218del, NM_001005291.2:c.*1216_*1218del, NM_001005291.2:c.*1217_*1218del, NM_001005291.2:c.*1218del, NM_001005291.2:c.*1218dup, NM_001005291.2:c.*1217_*1218dup, NM_001005291.2:c.*1216_*1218dup, NM_001005291.2:c.*1215_*1218dup, NM_001321096.3:c.*1211_*1218del, NM_001321096.3:c.*1212_*1218del, NM_001321096.3:c.*1213_*1218del, NM_001321096.3:c.*1214_*1218del, NM_001321096.3:c.*1215_*1218del, NM_001321096.3:c.*1216_*1218del, NM_001321096.3:c.*1217_*1218del, NM_001321096.3:c.*1218del, NM_001321096.3:c.*1218dup, NM_001321096.3:c.*1217_*1218dup, NM_001321096.3:c.*1216_*1218dup, NM_001321096.3:c.*1215_*1218dup, NM_001321096.1:c.*1211_*1218del, NM_001321096.1:c.*1212_*1218del, NM_001321096.1:c.*1213_*1218del, NM_001321096.1:c.*1214_*1218del, NM_001321096.1:c.*1215_*1218del, NM_001321096.1:c.*1216_*1218del, NM_001321096.1:c.*1217_*1218del, NM_001321096.1:c.*1218del, NM_001321096.1:c.*1218dup, NM_001321096.1:c.*1217_*1218dup, NM_001321096.1:c.*1216_*1218dup, NM_001321096.1:c.*1215_*1218dup, NM_001388385.1:c.*1211_*1218del, NM_001388385.1:c.*1212_*1218del, NM_001388385.1:c.*1213_*1218del, NM_001388385.1:c.*1214_*1218del, NM_001388385.1:c.*1215_*1218del, NM_001388385.1:c.*1216_*1218del, NM_001388385.1:c.*1217_*1218del, NM_001388385.1:c.*1218del, NM_001388385.1:c.*1218dup, NM_001388385.1:c.*1217_*1218dup, NM_001388385.1:c.*1216_*1218dup, NM_001388385.1:c.*1215_*1218dup, NM_001388387.1:c.*1211_*1218del, NM_001388387.1:c.*1212_*1218del, NM_001388387.1:c.*1213_*1218del, NM_001388387.1:c.*1214_*1218del, NM_001388387.1:c.*1215_*1218del, NM_001388387.1:c.*1216_*1218del, NM_001388387.1:c.*1217_*1218del, NM_001388387.1:c.*1218del, NM_001388387.1:c.*1218dup, NM_001388387.1:c.*1217_*1218dup, NM_001388387.1:c.*1216_*1218dup, NM_001388387.1:c.*1215_*1218dup, NM_001388389.1:c.*1211_*1218del, NM_001388389.1:c.*1212_*1218del, NM_001388389.1:c.*1213_*1218del, NM_001388389.1:c.*1214_*1218del, NM_001388389.1:c.*1215_*1218del, NM_001388389.1:c.*1216_*1218del, NM_001388389.1:c.*1217_*1218del, NM_001388389.1:c.*1218del, NM_001388389.1:c.*1218dup, NM_001388389.1:c.*1217_*1218dup, NM_001388389.1:c.*1216_*1218dup, NM_001388389.1:c.*1215_*1218dup, NM_001388390.1:c.*1211_*1218del, NM_001388390.1:c.*1212_*1218del, NM_001388390.1:c.*1213_*1218del, NM_001388390.1:c.*1214_*1218del, NM_001388390.1:c.*1215_*1218del, NM_001388390.1:c.*1216_*1218del, NM_001388390.1:c.*1217_*1218del, NM_001388390.1:c.*1218del, NM_001388390.1:c.*1218dup, NM_001388390.1:c.*1217_*1218dup, NM_001388390.1:c.*1216_*1218dup, NM_001388390.1:c.*1215_*1218dup, NM_001388391.1:c.*1211_*1218del, NM_001388391.1:c.*1212_*1218del, NM_001388391.1:c.*1213_*1218del, NM_001388391.1:c.*1214_*1218del, NM_001388391.1:c.*1215_*1218del, NM_001388391.1:c.*1216_*1218del, NM_001388391.1:c.*1217_*1218del, NM_001388391.1:c.*1218del, NM_001388391.1:c.*1218dup, NM_001388391.1:c.*1217_*1218dup, NM_001388391.1:c.*1216_*1218dup, NM_001388391.1:c.*1215_*1218dup, NM_001388386.1:c.*1036_*1043del, NM_001388386.1:c.*1037_*1043del, NM_001388386.1:c.*1038_*1043del, NM_001388386.1:c.*1039_*1043del, NM_001388386.1:c.*1040_*1043del, NM_001388386.1:c.*1041_*1043del, NM_001388386.1:c.*1042_*1043del, NM_001388386.1:c.*1043del, NM_001388386.1:c.*1043dup, NM_001388386.1:c.*1042_*1043dup, NM_001388386.1:c.*1041_*1043dup, NM_001388386.1:c.*1040_*1043dup, NM_001388388.1:c.*1036_*1043del, NM_001388388.1:c.*1037_*1043del, NM_001388388.1:c.*1038_*1043del, NM_001388388.1:c.*1039_*1043del, NM_001388388.1:c.*1040_*1043del, NM_001388388.1:c.*1041_*1043del, NM_001388388.1:c.*1042_*1043del, NM_001388388.1:c.*1043del, NM_001388388.1:c.*1043dup, NM_001388388.1:c.*1042_*1043dup, NM_001388388.1:c.*1041_*1043dup, NM_001388388.1:c.*1040_*1043dup, NR_170943.1:n.4636_4643del, NR_170943.1:n.4637_4643del, NR_170943.1:n.4638_4643del, NR_170943.1:n.4639_4643del, NR_170943.1:n.4640_4643del, NR_170943.1:n.4641_4643del, NR_170943.1:n.4642_4643del, NR_170943.1:n.4643del, NR_170943.1:n.4643dup, NR_170943.1:n.4642_4643dup, NR_170943.1:n.4641_4643dup, NR_170943.1:n.4640_4643dup, NM_001388392.1:c.*1211_*1218del, NM_001388392.1:c.*1212_*1218del, NM_001388392.1:c.*1213_*1218del, NM_001388392.1:c.*1214_*1218del, NM_001388392.1:c.*1215_*1218del, NM_001388392.1:c.*1216_*1218del, NM_001388392.1:c.*1217_*1218del, NM_001388392.1:c.*1218del, NM_001388392.1:c.*1218dup, NM_001388392.1:c.*1217_*1218dup, NM_001388392.1:c.*1216_*1218dup, NM_001388392.1:c.*1215_*1218dup, NM_001388393.1:c.*1211_*1218del, NM_001388393.1:c.*1212_*1218del, NM_001388393.1:c.*1213_*1218del, NM_001388393.1:c.*1214_*1218del, NM_001388393.1:c.*1215_*1218del, NM_001388393.1:c.*1216_*1218del, NM_001388393.1:c.*1217_*1218del, NM_001388393.1:c.*1218del, NM_001388393.1:c.*1218dup, NM_001388393.1:c.*1217_*1218dup, NM_001388393.1:c.*1216_*1218dup, NM_001388393.1:c.*1215_*1218dup, NM_001388394.1:c.*1211_*1218del, NM_001388394.1:c.*1212_*1218del, NM_001388394.1:c.*1213_*1218del, NM_001388394.1:c.*1214_*1218del, NM_001388394.1:c.*1215_*1218del, NM_001388394.1:c.*1216_*1218del, NM_001388394.1:c.*1217_*1218del, NM_001388394.1:c.*1218del, NM_001388394.1:c.*1218dup, NM_001388394.1:c.*1217_*1218dup, NM_001388394.1:c.*1216_*1218dup, NM_001388394.1:c.*1215_*1218dup, NR_170945.1:n.3931_3938del, NR_170945.1:n.3932_3938del, NR_170945.1:n.3933_3938del, NR_170945.1:n.3934_3938del, NR_170945.1:n.3935_3938del, NR_170945.1:n.3936_3938del, NR_170945.1:n.3937_3938del, NR_170945.1:n.3938del, NR_170945.1:n.3938dup, NR_170945.1:n.3937_3938dup, NR_170945.1:n.3936_3938dup, NR_170945.1:n.3935_3938dup, NR_170944.1:n.3841_3848del, NR_170944.1:n.3842_3848del, NR_170944.1:n.3843_3848del, NR_170944.1:n.3844_3848del, NR_170944.1:n.3845_3848del, NR_170944.1:n.3846_3848del, NR_170944.1:n.3847_3848del, NR_170944.1:n.3848del, NR_170944.1:n.3848dup, NR_170944.1:n.3847_3848dup, NR_170944.1:n.3846_3848dup, NR_170944.1:n.3845_3848dup, NR_170990.1:n.3787_3794del, NR_170990.1:n.3788_3794del, NR_170990.1:n.3789_3794del, NR_170990.1:n.3790_3794del, NR_170990.1:n.3791_3794del, NR_170990.1:n.3792_3794del, NR_170990.1:n.3793_3794del, NR_170990.1:n.3794del, NR_170990.1:n.3794dup, NR_170990.1:n.3793_3794dup, NR_170990.1:n.3792_3794dup, NR_170990.1:n.3791_3794dup, XM_017024028.3:c.*1433_*1440del, XM_017024028.3:c.*1434_*1440del, XM_017024028.3:c.*1435_*1440del, XM_017024028.3:c.*1436_*1440del, XM_017024028.3:c.*1437_*1440del, XM_017024028.3:c.*1438_*1440del, XM_017024028.3:c.*1439_*1440del, XM_017024028.3:c.*1440del, XM_017024028.3:c.*1440dup, XM_017024028.3:c.*1439_*1440dup, XM_017024028.3:c.*1438_*1440dup, XM_017024028.3:c.*1437_*1440dup, XM_017024027.2:c.*1433_*1440del, XM_017024027.2:c.*1434_*1440del, XM_017024027.2:c.*1435_*1440del, XM_017024027.2:c.*1436_*1440del, XM_017024027.2:c.*1437_*1440del, XM_017024027.2:c.*1438_*1440del, XM_017024027.2:c.*1439_*1440del, XM_017024027.2:c.*1440del, XM_017024027.2:c.*1440dup, XM_017024027.2:c.*1439_*1440dup, XM_017024027.2:c.*1438_*1440dup, XM_017024027.2:c.*1437_*1440dup, XM_047435151.1:c.*1433_*1440del, XM_047435151.1:c.*1434_*1440del, XM_047435151.1:c.*1435_*1440del, XM_047435151.1:c.*1436_*1440del, XM_047435151.1:c.*1437_*1440del, XM_047435151.1:c.*1438_*1440del, XM_047435151.1:c.*1439_*1440del, XM_047435151.1:c.*1440del, XM_047435151.1:c.*1440dup, XM_047435151.1:c.*1439_*1440dup, XM_047435151.1:c.*1438_*1440dup, XM_047435151.1:c.*1437_*1440dup, XM_047435149.1:c.*1433_*1440del, XM_047435149.1:c.*1434_*1440del, XM_047435149.1:c.*1435_*1440del, XM_047435149.1:c.*1436_*1440del, XM_047435149.1:c.*1437_*1440del, XM_047435149.1:c.*1438_*1440del, XM_047435149.1:c.*1439_*1440del, XM_047435149.1:c.*1440del, XM_047435149.1:c.*1440dup, XM_047435149.1:c.*1439_*1440dup, XM_047435149.1:c.*1438_*1440dup, XM_047435149.1:c.*1437_*1440dup, XM_047435152.1:c.*1433_*1440del, XM_047435152.1:c.*1434_*1440del, XM_047435152.1:c.*1435_*1440del, XM_047435152.1:c.*1436_*1440del, XM_047435152.1:c.*1437_*1440del, XM_047435152.1:c.*1438_*1440del, XM_047435152.1:c.*1439_*1440del, XM_047435152.1:c.*1440del, XM_047435152.1:c.*1440dup, XM_047435152.1:c.*1439_*1440dup, XM_047435152.1:c.*1438_*1440dup, XM_047435152.1:c.*1437_*1440dup, XM_047435153.1:c.*1433_*1440del, XM_047435153.1:c.*1434_*1440del, XM_047435153.1:c.*1435_*1440del, XM_047435153.1:c.*1436_*1440del, XM_047435153.1:c.*1437_*1440del, XM_047435153.1:c.*1438_*1440del, XM_047435153.1:c.*1439_*1440del, XM_047435153.1:c.*1440del, XM_047435153.1:c.*1440dup, XM_047435153.1:c.*1439_*1440dup, XM_047435153.1:c.*1438_*1440dup, XM_047435153.1:c.*1437_*1440dup, XM_047435150.1:c.*1433_*1440del, XM_047435150.1:c.*1434_*1440del, XM_047435150.1:c.*1435_*1440del, XM_047435150.1:c.*1436_*1440del, XM_047435150.1:c.*1437_*1440del, XM_047435150.1:c.*1438_*1440del, XM_047435150.1:c.*1439_*1440del, XM_047435150.1:c.*1440del, XM_047435150.1:c.*1440dup, XM_047435150.1:c.*1439_*1440dup, XM_047435150.1:c.*1438_*1440dup, XM_047435150.1:c.*1437_*1440dup, NM_017574.1:c.*534_*541del, NM_017574.1:c.*535_*541del, NM_017574.1:c.*536_*541del, NM_017574.1:c.*537_*541del, NM_017574.1:c.*538_*541del, NM_017574.1:c.*539_*541del, NM_017574.1:c.*540_*541del, NM_017574.1:c.*541del, NM_017574.1:c.*541dup, NM_017574.1:c.*540_*541dup, NM_017574.1:c.*539_*541dup, NM_017574.1:c.*538_*541dup, XM_047436580.1:c.*1211_*1218del, XM_047436580.1:c.*1212_*1218del, XM_047436580.1:c.*1213_*1218del, XM_047436580.1:c.*1214_*1218del, XM_047436580.1:c.*1215_*1218del, XM_047436580.1:c.*1216_*1218del, XM_047436580.1:c.*1217_*1218del, XM_047436580.1:c.*1218del, XM_047436580.1:c.*1218dup, XM_047436580.1:c.*1217_*1218dup, XM_047436580.1:c.*1216_*1218dup, XM_047436580.1:c.*1215_*1218dup, NM_152256.1:c.*123_*130del, NM_152256.1:c.*124_*130del, NM_152256.1:c.*125_*130del, NM_152256.1:c.*126_*130del, NM_152256.1:c.*127_*130del, NM_152256.1:c.*128_*130del, NM_152256.1:c.*129_*130del, NM_152256.1:c.*130del, NM_152256.1:c.*130dup, NM_152256.1:c.*129_*130dup, NM_152256.1:c.*128_*130dup, NM_152256.1:c.*127_*130dup

                        12.

                        rs1491366426 has merged into rs34061744 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          17:17811414 (GRCh38)
                          17:17714728 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          SREBF1 (Varview), RAI1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          HGVS:
                          NC_000017.11:g.17811414_17811421del, NC_000017.11:g.17811415_17811421del, NC_000017.11:g.17811416_17811421del, NC_000017.11:g.17811417_17811421del, NC_000017.11:g.17811418_17811421del, NC_000017.11:g.17811419_17811421del, NC_000017.11:g.17811420_17811421del, NC_000017.11:g.17811421del, NC_000017.11:g.17811421dup, NC_000017.11:g.17811420_17811421dup, NC_000017.11:g.17811419_17811421dup, NC_000017.11:g.17811418_17811421dup, NC_000017.10:g.17714728_17714735del, NC_000017.10:g.17714729_17714735del, NC_000017.10:g.17714730_17714735del, NC_000017.10:g.17714731_17714735del, NC_000017.10:g.17714732_17714735del, NC_000017.10:g.17714733_17714735del, NC_000017.10:g.17714734_17714735del, NC_000017.10:g.17714735del, NC_000017.10:g.17714735dup, NC_000017.10:g.17714734_17714735dup, NC_000017.10:g.17714733_17714735dup, NC_000017.10:g.17714732_17714735dup, NG_007101.2:g.134942_134949del, NG_007101.2:g.134943_134949del, NG_007101.2:g.134944_134949del, NG_007101.2:g.134945_134949del, NG_007101.2:g.134946_134949del, NG_007101.2:g.134947_134949del, NG_007101.2:g.134948_134949del, NG_007101.2:g.134949del, NG_007101.2:g.134949dup, NG_007101.2:g.134948_134949dup, NG_007101.2:g.134947_134949dup, NG_007101.2:g.134946_134949dup, NM_030665.4:c.*1433_*1440del, NM_030665.4:c.*1434_*1440del, NM_030665.4:c.*1435_*1440del, NM_030665.4:c.*1436_*1440del, NM_030665.4:c.*1437_*1440del, NM_030665.4:c.*1438_*1440del, NM_030665.4:c.*1439_*1440del, NM_030665.4:c.*1440del, NM_030665.4:c.*1440dup, NM_030665.4:c.*1439_*1440dup, NM_030665.4:c.*1438_*1440dup, NM_030665.4:c.*1437_*1440dup, NM_030665.3:c.*1433_*1440del, NM_030665.3:c.*1434_*1440del, NM_030665.3:c.*1435_*1440del, NM_030665.3:c.*1436_*1440del, NM_030665.3:c.*1437_*1440del, NM_030665.3:c.*1438_*1440del, NM_030665.3:c.*1439_*1440del, NM_030665.3:c.*1440del, NM_030665.3:c.*1440dup, NM_030665.3:c.*1439_*1440dup, NM_030665.3:c.*1438_*1440dup, NM_030665.3:c.*1437_*1440dup, NG_029029.1:g.30601_30608del, NG_029029.1:g.30602_30608del, NG_029029.1:g.30603_30608del, NG_029029.1:g.30604_30608del, NG_029029.1:g.30605_30608del, NG_029029.1:g.30606_30608del, NG_029029.1:g.30607_30608del, NG_029029.1:g.30608del, NG_029029.1:g.30608dup, NG_029029.1:g.30607_30608dup, NG_029029.1:g.30606_30608dup, NG_029029.1:g.30605_30608dup, NM_004176.5:c.*1211_*1218del, NM_004176.5:c.*1212_*1218del, NM_004176.5:c.*1213_*1218del, NM_004176.5:c.*1214_*1218del, NM_004176.5:c.*1215_*1218del, NM_004176.5:c.*1216_*1218del, NM_004176.5:c.*1217_*1218del, NM_004176.5:c.*1218del, NM_004176.5:c.*1218dup, NM_004176.5:c.*1217_*1218dup, NM_004176.5:c.*1216_*1218dup, NM_004176.5:c.*1215_*1218dup, NM_004176.4:c.*1211_*1218del, NM_004176.4:c.*1212_*1218del, NM_004176.4:c.*1213_*1218del, NM_004176.4:c.*1214_*1218del, NM_004176.4:c.*1215_*1218del, NM_004176.4:c.*1216_*1218del, NM_004176.4:c.*1217_*1218del, NM_004176.4:c.*1218del, NM_004176.4:c.*1218dup, NM_004176.4:c.*1217_*1218dup, NM_004176.4:c.*1216_*1218dup, NM_004176.4:c.*1215_*1218dup, NM_001005291.3:c.*1211_*1218del, NM_001005291.3:c.*1212_*1218del, NM_001005291.3:c.*1213_*1218del, NM_001005291.3:c.*1214_*1218del, NM_001005291.3:c.*1215_*1218del, NM_001005291.3:c.*1216_*1218del, NM_001005291.3:c.*1217_*1218del, NM_001005291.3:c.*1218del, NM_001005291.3:c.*1218dup, NM_001005291.3:c.*1217_*1218dup, NM_001005291.3:c.*1216_*1218dup, NM_001005291.3:c.*1215_*1218dup, NM_001005291.2:c.*1211_*1218del, NM_001005291.2:c.*1212_*1218del, NM_001005291.2:c.*1213_*1218del, NM_001005291.2:c.*1214_*1218del, NM_001005291.2:c.*1215_*1218del, NM_001005291.2:c.*1216_*1218del, NM_001005291.2:c.*1217_*1218del, NM_001005291.2:c.*1218del, NM_001005291.2:c.*1218dup, NM_001005291.2:c.*1217_*1218dup, NM_001005291.2:c.*1216_*1218dup, NM_001005291.2:c.*1215_*1218dup, NM_001321096.3:c.*1211_*1218del, NM_001321096.3:c.*1212_*1218del, NM_001321096.3:c.*1213_*1218del, NM_001321096.3:c.*1214_*1218del, NM_001321096.3:c.*1215_*1218del, NM_001321096.3:c.*1216_*1218del, NM_001321096.3:c.*1217_*1218del, NM_001321096.3:c.*1218del, NM_001321096.3:c.*1218dup, NM_001321096.3:c.*1217_*1218dup, NM_001321096.3:c.*1216_*1218dup, NM_001321096.3:c.*1215_*1218dup, NM_001321096.1:c.*1211_*1218del, NM_001321096.1:c.*1212_*1218del, NM_001321096.1:c.*1213_*1218del, NM_001321096.1:c.*1214_*1218del, NM_001321096.1:c.*1215_*1218del, NM_001321096.1:c.*1216_*1218del, NM_001321096.1:c.*1217_*1218del, NM_001321096.1:c.*1218del, NM_001321096.1:c.*1218dup, NM_001321096.1:c.*1217_*1218dup, NM_001321096.1:c.*1216_*1218dup, NM_001321096.1:c.*1215_*1218dup, NM_001388385.1:c.*1211_*1218del, NM_001388385.1:c.*1212_*1218del, NM_001388385.1:c.*1213_*1218del, NM_001388385.1:c.*1214_*1218del, NM_001388385.1:c.*1215_*1218del, NM_001388385.1:c.*1216_*1218del, NM_001388385.1:c.*1217_*1218del, NM_001388385.1:c.*1218del, NM_001388385.1:c.*1218dup, NM_001388385.1:c.*1217_*1218dup, NM_001388385.1:c.*1216_*1218dup, NM_001388385.1:c.*1215_*1218dup, NM_001388387.1:c.*1211_*1218del, NM_001388387.1:c.*1212_*1218del, NM_001388387.1:c.*1213_*1218del, NM_001388387.1:c.*1214_*1218del, NM_001388387.1:c.*1215_*1218del, NM_001388387.1:c.*1216_*1218del, NM_001388387.1:c.*1217_*1218del, NM_001388387.1:c.*1218del, NM_001388387.1:c.*1218dup, NM_001388387.1:c.*1217_*1218dup, NM_001388387.1:c.*1216_*1218dup, NM_001388387.1:c.*1215_*1218dup, NM_001388389.1:c.*1211_*1218del, NM_001388389.1:c.*1212_*1218del, NM_001388389.1:c.*1213_*1218del, NM_001388389.1:c.*1214_*1218del, NM_001388389.1:c.*1215_*1218del, NM_001388389.1:c.*1216_*1218del, NM_001388389.1:c.*1217_*1218del, NM_001388389.1:c.*1218del, NM_001388389.1:c.*1218dup, NM_001388389.1:c.*1217_*1218dup, NM_001388389.1:c.*1216_*1218dup, NM_001388389.1:c.*1215_*1218dup, NM_001388390.1:c.*1211_*1218del, NM_001388390.1:c.*1212_*1218del, NM_001388390.1:c.*1213_*1218del, NM_001388390.1:c.*1214_*1218del, NM_001388390.1:c.*1215_*1218del, NM_001388390.1:c.*1216_*1218del, NM_001388390.1:c.*1217_*1218del, NM_001388390.1:c.*1218del, NM_001388390.1:c.*1218dup, NM_001388390.1:c.*1217_*1218dup, NM_001388390.1:c.*1216_*1218dup, NM_001388390.1:c.*1215_*1218dup, NM_001388391.1:c.*1211_*1218del, NM_001388391.1:c.*1212_*1218del, NM_001388391.1:c.*1213_*1218del, NM_001388391.1:c.*1214_*1218del, NM_001388391.1:c.*1215_*1218del, NM_001388391.1:c.*1216_*1218del, NM_001388391.1:c.*1217_*1218del, NM_001388391.1:c.*1218del, NM_001388391.1:c.*1218dup, NM_001388391.1:c.*1217_*1218dup, NM_001388391.1:c.*1216_*1218dup, NM_001388391.1:c.*1215_*1218dup, NM_001388386.1:c.*1036_*1043del, NM_001388386.1:c.*1037_*1043del, NM_001388386.1:c.*1038_*1043del, NM_001388386.1:c.*1039_*1043del, NM_001388386.1:c.*1040_*1043del, NM_001388386.1:c.*1041_*1043del, NM_001388386.1:c.*1042_*1043del, NM_001388386.1:c.*1043del, NM_001388386.1:c.*1043dup, NM_001388386.1:c.*1042_*1043dup, NM_001388386.1:c.*1041_*1043dup, NM_001388386.1:c.*1040_*1043dup, NM_001388388.1:c.*1036_*1043del, NM_001388388.1:c.*1037_*1043del, NM_001388388.1:c.*1038_*1043del, NM_001388388.1:c.*1039_*1043del, NM_001388388.1:c.*1040_*1043del, NM_001388388.1:c.*1041_*1043del, NM_001388388.1:c.*1042_*1043del, NM_001388388.1:c.*1043del, NM_001388388.1:c.*1043dup, NM_001388388.1:c.*1042_*1043dup, NM_001388388.1:c.*1041_*1043dup, NM_001388388.1:c.*1040_*1043dup, NR_170943.1:n.4636_4643del, NR_170943.1:n.4637_4643del, NR_170943.1:n.4638_4643del, NR_170943.1:n.4639_4643del, NR_170943.1:n.4640_4643del, NR_170943.1:n.4641_4643del, NR_170943.1:n.4642_4643del, NR_170943.1:n.4643del, NR_170943.1:n.4643dup, NR_170943.1:n.4642_4643dup, NR_170943.1:n.4641_4643dup, NR_170943.1:n.4640_4643dup, NM_001388392.1:c.*1211_*1218del, NM_001388392.1:c.*1212_*1218del, NM_001388392.1:c.*1213_*1218del, NM_001388392.1:c.*1214_*1218del, NM_001388392.1:c.*1215_*1218del, NM_001388392.1:c.*1216_*1218del, NM_001388392.1:c.*1217_*1218del, NM_001388392.1:c.*1218del, NM_001388392.1:c.*1218dup, NM_001388392.1:c.*1217_*1218dup, NM_001388392.1:c.*1216_*1218dup, NM_001388392.1:c.*1215_*1218dup, NM_001388393.1:c.*1211_*1218del, NM_001388393.1:c.*1212_*1218del, NM_001388393.1:c.*1213_*1218del, NM_001388393.1:c.*1214_*1218del, NM_001388393.1:c.*1215_*1218del, NM_001388393.1:c.*1216_*1218del, NM_001388393.1:c.*1217_*1218del, NM_001388393.1:c.*1218del, NM_001388393.1:c.*1218dup, NM_001388393.1:c.*1217_*1218dup, NM_001388393.1:c.*1216_*1218dup, NM_001388393.1:c.*1215_*1218dup, NM_001388394.1:c.*1211_*1218del, NM_001388394.1:c.*1212_*1218del, NM_001388394.1:c.*1213_*1218del, NM_001388394.1:c.*1214_*1218del, NM_001388394.1:c.*1215_*1218del, NM_001388394.1:c.*1216_*1218del, NM_001388394.1:c.*1217_*1218del, NM_001388394.1:c.*1218del, NM_001388394.1:c.*1218dup, NM_001388394.1:c.*1217_*1218dup, NM_001388394.1:c.*1216_*1218dup, NM_001388394.1:c.*1215_*1218dup, NR_170945.1:n.3931_3938del, NR_170945.1:n.3932_3938del, NR_170945.1:n.3933_3938del, NR_170945.1:n.3934_3938del, NR_170945.1:n.3935_3938del, NR_170945.1:n.3936_3938del, NR_170945.1:n.3937_3938del, NR_170945.1:n.3938del, NR_170945.1:n.3938dup, NR_170945.1:n.3937_3938dup, NR_170945.1:n.3936_3938dup, NR_170945.1:n.3935_3938dup, NR_170944.1:n.3841_3848del, NR_170944.1:n.3842_3848del, NR_170944.1:n.3843_3848del, NR_170944.1:n.3844_3848del, NR_170944.1:n.3845_3848del, NR_170944.1:n.3846_3848del, NR_170944.1:n.3847_3848del, NR_170944.1:n.3848del, NR_170944.1:n.3848dup, NR_170944.1:n.3847_3848dup, NR_170944.1:n.3846_3848dup, NR_170944.1:n.3845_3848dup, NR_170990.1:n.3787_3794del, NR_170990.1:n.3788_3794del, NR_170990.1:n.3789_3794del, NR_170990.1:n.3790_3794del, NR_170990.1:n.3791_3794del, NR_170990.1:n.3792_3794del, NR_170990.1:n.3793_3794del, NR_170990.1:n.3794del, NR_170990.1:n.3794dup, NR_170990.1:n.3793_3794dup, NR_170990.1:n.3792_3794dup, NR_170990.1:n.3791_3794dup, XM_017024028.3:c.*1433_*1440del, XM_017024028.3:c.*1434_*1440del, XM_017024028.3:c.*1435_*1440del, XM_017024028.3:c.*1436_*1440del, XM_017024028.3:c.*1437_*1440del, XM_017024028.3:c.*1438_*1440del, XM_017024028.3:c.*1439_*1440del, XM_017024028.3:c.*1440del, XM_017024028.3:c.*1440dup, XM_017024028.3:c.*1439_*1440dup, XM_017024028.3:c.*1438_*1440dup, XM_017024028.3:c.*1437_*1440dup, XM_017024027.2:c.*1433_*1440del, XM_017024027.2:c.*1434_*1440del, XM_017024027.2:c.*1435_*1440del, XM_017024027.2:c.*1436_*1440del, XM_017024027.2:c.*1437_*1440del, XM_017024027.2:c.*1438_*1440del, XM_017024027.2:c.*1439_*1440del, XM_017024027.2:c.*1440del, XM_017024027.2:c.*1440dup, XM_017024027.2:c.*1439_*1440dup, XM_017024027.2:c.*1438_*1440dup, XM_017024027.2:c.*1437_*1440dup, XM_047435151.1:c.*1433_*1440del, XM_047435151.1:c.*1434_*1440del, XM_047435151.1:c.*1435_*1440del, XM_047435151.1:c.*1436_*1440del, XM_047435151.1:c.*1437_*1440del, XM_047435151.1:c.*1438_*1440del, XM_047435151.1:c.*1439_*1440del, XM_047435151.1:c.*1440del, XM_047435151.1:c.*1440dup, XM_047435151.1:c.*1439_*1440dup, XM_047435151.1:c.*1438_*1440dup, XM_047435151.1:c.*1437_*1440dup, XM_047435149.1:c.*1433_*1440del, XM_047435149.1:c.*1434_*1440del, XM_047435149.1:c.*1435_*1440del, XM_047435149.1:c.*1436_*1440del, XM_047435149.1:c.*1437_*1440del, XM_047435149.1:c.*1438_*1440del, XM_047435149.1:c.*1439_*1440del, XM_047435149.1:c.*1440del, XM_047435149.1:c.*1440dup, XM_047435149.1:c.*1439_*1440dup, XM_047435149.1:c.*1438_*1440dup, XM_047435149.1:c.*1437_*1440dup, XM_047435152.1:c.*1433_*1440del, XM_047435152.1:c.*1434_*1440del, XM_047435152.1:c.*1435_*1440del, XM_047435152.1:c.*1436_*1440del, XM_047435152.1:c.*1437_*1440del, XM_047435152.1:c.*1438_*1440del, XM_047435152.1:c.*1439_*1440del, XM_047435152.1:c.*1440del, XM_047435152.1:c.*1440dup, XM_047435152.1:c.*1439_*1440dup, XM_047435152.1:c.*1438_*1440dup, XM_047435152.1:c.*1437_*1440dup, XM_047435153.1:c.*1433_*1440del, XM_047435153.1:c.*1434_*1440del, XM_047435153.1:c.*1435_*1440del, XM_047435153.1:c.*1436_*1440del, XM_047435153.1:c.*1437_*1440del, XM_047435153.1:c.*1438_*1440del, XM_047435153.1:c.*1439_*1440del, XM_047435153.1:c.*1440del, XM_047435153.1:c.*1440dup, XM_047435153.1:c.*1439_*1440dup, XM_047435153.1:c.*1438_*1440dup, XM_047435153.1:c.*1437_*1440dup, XM_047435150.1:c.*1433_*1440del, XM_047435150.1:c.*1434_*1440del, XM_047435150.1:c.*1435_*1440del, XM_047435150.1:c.*1436_*1440del, XM_047435150.1:c.*1437_*1440del, XM_047435150.1:c.*1438_*1440del, XM_047435150.1:c.*1439_*1440del, XM_047435150.1:c.*1440del, XM_047435150.1:c.*1440dup, XM_047435150.1:c.*1439_*1440dup, XM_047435150.1:c.*1438_*1440dup, XM_047435150.1:c.*1437_*1440dup, NM_017574.1:c.*534_*541del, NM_017574.1:c.*535_*541del, NM_017574.1:c.*536_*541del, NM_017574.1:c.*537_*541del, NM_017574.1:c.*538_*541del, NM_017574.1:c.*539_*541del, NM_017574.1:c.*540_*541del, NM_017574.1:c.*541del, NM_017574.1:c.*541dup, NM_017574.1:c.*540_*541dup, NM_017574.1:c.*539_*541dup, NM_017574.1:c.*538_*541dup, XM_047436580.1:c.*1211_*1218del, XM_047436580.1:c.*1212_*1218del, XM_047436580.1:c.*1213_*1218del, XM_047436580.1:c.*1214_*1218del, XM_047436580.1:c.*1215_*1218del, XM_047436580.1:c.*1216_*1218del, XM_047436580.1:c.*1217_*1218del, XM_047436580.1:c.*1218del, XM_047436580.1:c.*1218dup, XM_047436580.1:c.*1217_*1218dup, XM_047436580.1:c.*1216_*1218dup, XM_047436580.1:c.*1215_*1218dup, NM_152256.1:c.*123_*130del, NM_152256.1:c.*124_*130del, NM_152256.1:c.*125_*130del, NM_152256.1:c.*126_*130del, NM_152256.1:c.*127_*130del, NM_152256.1:c.*128_*130del, NM_152256.1:c.*129_*130del, NM_152256.1:c.*130del, NM_152256.1:c.*130dup, NM_152256.1:c.*129_*130dup, NM_152256.1:c.*128_*130dup, NM_152256.1:c.*127_*130dup

                          13.

                          rs1491331049 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTTTT [Show Flanks]
                            Chromosome:
                            17:17808430 (GRCh38)
                            17:17711744 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:17808427:TTTT:TT,NC_000017.11:17808427:TTTT:TTT,NC_000017.11:17808427:TTTT:TTTTTTT
                            Gene:
                            RAI1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTT=0./0 (ALFA)
                            -=0.00007/1 (TOMMO)
                            HGVS:

                            14.

                            rs1491311459 has merged into rs372576220 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GGGGGGG>-,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
                              Chromosome:
                              17:17699634 (GRCh38)
                              17:17602948 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:17699629:GGGGGGGGGGG:GGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:17699629:GGGGGGGGGGG:GGGGGGGGGGGGGG
                              Gene:
                              RAI1 (Varview), LOC124903943 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGGGGGGG=0./0 (ALFA)
                              -=0.0984/365 (TWINSUK)
                              -=0.1103/425 (ALSPAC)
                              -=0.1312/657 (1000Genomes)
                              -=0.3/12 (GENOME_DK)
                              HGVS:
                              NC_000017.11:g.17699634_17699640del, NC_000017.11:g.17699638_17699640del, NC_000017.11:g.17699639_17699640del, NC_000017.11:g.17699640del, NC_000017.11:g.17699640dup, NC_000017.11:g.17699639_17699640dup, NC_000017.11:g.17699638_17699640dup, NC_000017.10:g.17602948_17602954del, NC_000017.10:g.17602952_17602954del, NC_000017.10:g.17602953_17602954del, NC_000017.10:g.17602954del, NC_000017.10:g.17602954dup, NC_000017.10:g.17602953_17602954dup, NC_000017.10:g.17602952_17602954dup, NG_007101.2:g.23162_23168del, NG_007101.2:g.23166_23168del, NG_007101.2:g.23167_23168del, NG_007101.2:g.23168del, NG_007101.2:g.23168dup, NG_007101.2:g.23167_23168dup, NG_007101.2:g.23166_23168dup, XR_007065650.1:n.22685_22691del, XR_007065650.1:n.22689_22691del, XR_007065650.1:n.22690_22691del, XR_007065650.1:n.22691del, XR_007065650.1:n.22691dup, XR_007065650.1:n.22690_22691dup, XR_007065650.1:n.22689_22691dup

                              15.

                              rs1491289381 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->GTT
                                Chromosome:
                                no mapping
                                Canonical SPDI:

                                16.

                                rs1491285770 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->G [Show Flanks]
                                  Chromosome:
                                  17:17811402 (GRCh38)
                                  17:17714717 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:17811402:G:GG
                                  Gene:
                                  SREBF1 (Varview), RAI1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GG=0./0 (ALFA)
                                  G=0.00044/13 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.17811403dup, NC_000017.10:g.17714717dup, NG_007101.2:g.134931dup, NM_030665.4:c.*1422dup, NM_030665.3:c.*1422dup, NG_029029.1:g.30609dup, NM_004176.5:c.*1219dup, NM_004176.4:c.*1219dup, NM_001005291.3:c.*1219dup, NM_001005291.2:c.*1219dup, NM_001321096.3:c.*1219dup, NM_001321096.1:c.*1219dup, NM_001388385.1:c.*1219dup, NM_001388387.1:c.*1219dup, NM_001388389.1:c.*1219dup, NM_001388390.1:c.*1219dup, NM_001388391.1:c.*1219dup, NM_001388386.1:c.*1044dup, NM_001388388.1:c.*1044dup, NR_170943.1:n.4644dup, NM_001388392.1:c.*1219dup, NM_001388393.1:c.*1219dup, NM_001388394.1:c.*1219dup, NR_170945.1:n.3939dup, NR_170944.1:n.3849dup, NR_170990.1:n.3795dup, XM_017024028.3:c.*1422dup, XM_017024027.2:c.*1422dup, XM_047435151.1:c.*1422dup, XM_047435149.1:c.*1422dup, XM_047435152.1:c.*1422dup, XM_047435153.1:c.*1422dup, XM_047435150.1:c.*1422dup, NM_017574.1:c.*523dup, XM_047436580.1:c.*1219dup, NM_152256.1:c.*112dup

                                  17.

                                  rs1491274388 has merged into rs34061744 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    17:17811414 (GRCh38)
                                    17:17714728 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17811403:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    SREBF1 (Varview), RAI1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAA=0./0 (ALFA)
                                    HGVS:
                                    NC_000017.11:g.17811414_17811421del, NC_000017.11:g.17811415_17811421del, NC_000017.11:g.17811416_17811421del, NC_000017.11:g.17811417_17811421del, NC_000017.11:g.17811418_17811421del, NC_000017.11:g.17811419_17811421del, NC_000017.11:g.17811420_17811421del, NC_000017.11:g.17811421del, NC_000017.11:g.17811421dup, NC_000017.11:g.17811420_17811421dup, NC_000017.11:g.17811419_17811421dup, NC_000017.11:g.17811418_17811421dup, NC_000017.10:g.17714728_17714735del, NC_000017.10:g.17714729_17714735del, NC_000017.10:g.17714730_17714735del, NC_000017.10:g.17714731_17714735del, NC_000017.10:g.17714732_17714735del, NC_000017.10:g.17714733_17714735del, NC_000017.10:g.17714734_17714735del, NC_000017.10:g.17714735del, NC_000017.10:g.17714735dup, NC_000017.10:g.17714734_17714735dup, NC_000017.10:g.17714733_17714735dup, NC_000017.10:g.17714732_17714735dup, NG_007101.2:g.134942_134949del, NG_007101.2:g.134943_134949del, NG_007101.2:g.134944_134949del, NG_007101.2:g.134945_134949del, NG_007101.2:g.134946_134949del, NG_007101.2:g.134947_134949del, NG_007101.2:g.134948_134949del, NG_007101.2:g.134949del, NG_007101.2:g.134949dup, NG_007101.2:g.134948_134949dup, NG_007101.2:g.134947_134949dup, NG_007101.2:g.134946_134949dup, NM_030665.4:c.*1433_*1440del, NM_030665.4:c.*1434_*1440del, NM_030665.4:c.*1435_*1440del, NM_030665.4:c.*1436_*1440del, NM_030665.4:c.*1437_*1440del, NM_030665.4:c.*1438_*1440del, NM_030665.4:c.*1439_*1440del, NM_030665.4:c.*1440del, NM_030665.4:c.*1440dup, NM_030665.4:c.*1439_*1440dup, NM_030665.4:c.*1438_*1440dup, NM_030665.4:c.*1437_*1440dup, NM_030665.3:c.*1433_*1440del, NM_030665.3:c.*1434_*1440del, NM_030665.3:c.*1435_*1440del, NM_030665.3:c.*1436_*1440del, NM_030665.3:c.*1437_*1440del, NM_030665.3:c.*1438_*1440del, NM_030665.3:c.*1439_*1440del, NM_030665.3:c.*1440del, NM_030665.3:c.*1440dup, NM_030665.3:c.*1439_*1440dup, NM_030665.3:c.*1438_*1440dup, NM_030665.3:c.*1437_*1440dup, NG_029029.1:g.30601_30608del, NG_029029.1:g.30602_30608del, NG_029029.1:g.30603_30608del, NG_029029.1:g.30604_30608del, NG_029029.1:g.30605_30608del, NG_029029.1:g.30606_30608del, NG_029029.1:g.30607_30608del, NG_029029.1:g.30608del, NG_029029.1:g.30608dup, NG_029029.1:g.30607_30608dup, NG_029029.1:g.30606_30608dup, NG_029029.1:g.30605_30608dup, NM_004176.5:c.*1211_*1218del, NM_004176.5:c.*1212_*1218del, NM_004176.5:c.*1213_*1218del, NM_004176.5:c.*1214_*1218del, NM_004176.5:c.*1215_*1218del, NM_004176.5:c.*1216_*1218del, NM_004176.5:c.*1217_*1218del, NM_004176.5:c.*1218del, NM_004176.5:c.*1218dup, NM_004176.5:c.*1217_*1218dup, NM_004176.5:c.*1216_*1218dup, NM_004176.5:c.*1215_*1218dup, NM_004176.4:c.*1211_*1218del, NM_004176.4:c.*1212_*1218del, NM_004176.4:c.*1213_*1218del, NM_004176.4:c.*1214_*1218del, NM_004176.4:c.*1215_*1218del, NM_004176.4:c.*1216_*1218del, NM_004176.4:c.*1217_*1218del, NM_004176.4:c.*1218del, NM_004176.4:c.*1218dup, NM_004176.4:c.*1217_*1218dup, NM_004176.4:c.*1216_*1218dup, NM_004176.4:c.*1215_*1218dup, NM_001005291.3:c.*1211_*1218del, NM_001005291.3:c.*1212_*1218del, NM_001005291.3:c.*1213_*1218del, NM_001005291.3:c.*1214_*1218del, NM_001005291.3:c.*1215_*1218del, NM_001005291.3:c.*1216_*1218del, NM_001005291.3:c.*1217_*1218del, NM_001005291.3:c.*1218del, NM_001005291.3:c.*1218dup, NM_001005291.3:c.*1217_*1218dup, NM_001005291.3:c.*1216_*1218dup, NM_001005291.3:c.*1215_*1218dup, NM_001005291.2:c.*1211_*1218del, NM_001005291.2:c.*1212_*1218del, NM_001005291.2:c.*1213_*1218del, NM_001005291.2:c.*1214_*1218del, NM_001005291.2:c.*1215_*1218del, NM_001005291.2:c.*1216_*1218del, NM_001005291.2:c.*1217_*1218del, NM_001005291.2:c.*1218del, NM_001005291.2:c.*1218dup, NM_001005291.2:c.*1217_*1218dup, NM_001005291.2:c.*1216_*1218dup, NM_001005291.2:c.*1215_*1218dup, NM_001321096.3:c.*1211_*1218del, NM_001321096.3:c.*1212_*1218del, NM_001321096.3:c.*1213_*1218del, NM_001321096.3:c.*1214_*1218del, NM_001321096.3:c.*1215_*1218del, NM_001321096.3:c.*1216_*1218del, NM_001321096.3:c.*1217_*1218del, NM_001321096.3:c.*1218del, NM_001321096.3:c.*1218dup, NM_001321096.3:c.*1217_*1218dup, NM_001321096.3:c.*1216_*1218dup, NM_001321096.3:c.*1215_*1218dup, NM_001321096.1:c.*1211_*1218del, NM_001321096.1:c.*1212_*1218del, NM_001321096.1:c.*1213_*1218del, NM_001321096.1:c.*1214_*1218del, NM_001321096.1:c.*1215_*1218del, NM_001321096.1:c.*1216_*1218del, NM_001321096.1:c.*1217_*1218del, NM_001321096.1:c.*1218del, NM_001321096.1:c.*1218dup, NM_001321096.1:c.*1217_*1218dup, NM_001321096.1:c.*1216_*1218dup, NM_001321096.1:c.*1215_*1218dup, NM_001388385.1:c.*1211_*1218del, NM_001388385.1:c.*1212_*1218del, NM_001388385.1:c.*1213_*1218del, NM_001388385.1:c.*1214_*1218del, NM_001388385.1:c.*1215_*1218del, NM_001388385.1:c.*1216_*1218del, NM_001388385.1:c.*1217_*1218del, NM_001388385.1:c.*1218del, NM_001388385.1:c.*1218dup, NM_001388385.1:c.*1217_*1218dup, NM_001388385.1:c.*1216_*1218dup, NM_001388385.1:c.*1215_*1218dup, NM_001388387.1:c.*1211_*1218del, NM_001388387.1:c.*1212_*1218del, NM_001388387.1:c.*1213_*1218del, NM_001388387.1:c.*1214_*1218del, NM_001388387.1:c.*1215_*1218del, NM_001388387.1:c.*1216_*1218del, NM_001388387.1:c.*1217_*1218del, NM_001388387.1:c.*1218del, NM_001388387.1:c.*1218dup, NM_001388387.1:c.*1217_*1218dup, NM_001388387.1:c.*1216_*1218dup, NM_001388387.1:c.*1215_*1218dup, NM_001388389.1:c.*1211_*1218del, NM_001388389.1:c.*1212_*1218del, NM_001388389.1:c.*1213_*1218del, NM_001388389.1:c.*1214_*1218del, NM_001388389.1:c.*1215_*1218del, NM_001388389.1:c.*1216_*1218del, NM_001388389.1:c.*1217_*1218del, NM_001388389.1:c.*1218del, NM_001388389.1:c.*1218dup, NM_001388389.1:c.*1217_*1218dup, NM_001388389.1:c.*1216_*1218dup, NM_001388389.1:c.*1215_*1218dup, NM_001388390.1:c.*1211_*1218del, NM_001388390.1:c.*1212_*1218del, NM_001388390.1:c.*1213_*1218del, NM_001388390.1:c.*1214_*1218del, NM_001388390.1:c.*1215_*1218del, NM_001388390.1:c.*1216_*1218del, NM_001388390.1:c.*1217_*1218del, NM_001388390.1:c.*1218del, NM_001388390.1:c.*1218dup, NM_001388390.1:c.*1217_*1218dup, NM_001388390.1:c.*1216_*1218dup, NM_001388390.1:c.*1215_*1218dup, NM_001388391.1:c.*1211_*1218del, NM_001388391.1:c.*1212_*1218del, NM_001388391.1:c.*1213_*1218del, NM_001388391.1:c.*1214_*1218del, NM_001388391.1:c.*1215_*1218del, NM_001388391.1:c.*1216_*1218del, NM_001388391.1:c.*1217_*1218del, NM_001388391.1:c.*1218del, NM_001388391.1:c.*1218dup, NM_001388391.1:c.*1217_*1218dup, NM_001388391.1:c.*1216_*1218dup, NM_001388391.1:c.*1215_*1218dup, NM_001388386.1:c.*1036_*1043del, NM_001388386.1:c.*1037_*1043del, NM_001388386.1:c.*1038_*1043del, NM_001388386.1:c.*1039_*1043del, NM_001388386.1:c.*1040_*1043del, NM_001388386.1:c.*1041_*1043del, NM_001388386.1:c.*1042_*1043del, NM_001388386.1:c.*1043del, NM_001388386.1:c.*1043dup, NM_001388386.1:c.*1042_*1043dup, NM_001388386.1:c.*1041_*1043dup, NM_001388386.1:c.*1040_*1043dup, NM_001388388.1:c.*1036_*1043del, NM_001388388.1:c.*1037_*1043del, NM_001388388.1:c.*1038_*1043del, NM_001388388.1:c.*1039_*1043del, NM_001388388.1:c.*1040_*1043del, NM_001388388.1:c.*1041_*1043del, NM_001388388.1:c.*1042_*1043del, NM_001388388.1:c.*1043del, NM_001388388.1:c.*1043dup, NM_001388388.1:c.*1042_*1043dup, NM_001388388.1:c.*1041_*1043dup, NM_001388388.1:c.*1040_*1043dup, NR_170943.1:n.4636_4643del, NR_170943.1:n.4637_4643del, NR_170943.1:n.4638_4643del, NR_170943.1:n.4639_4643del, NR_170943.1:n.4640_4643del, NR_170943.1:n.4641_4643del, NR_170943.1:n.4642_4643del, NR_170943.1:n.4643del, NR_170943.1:n.4643dup, NR_170943.1:n.4642_4643dup, NR_170943.1:n.4641_4643dup, NR_170943.1:n.4640_4643dup, NM_001388392.1:c.*1211_*1218del, NM_001388392.1:c.*1212_*1218del, NM_001388392.1:c.*1213_*1218del, NM_001388392.1:c.*1214_*1218del, NM_001388392.1:c.*1215_*1218del, NM_001388392.1:c.*1216_*1218del, NM_001388392.1:c.*1217_*1218del, NM_001388392.1:c.*1218del, NM_001388392.1:c.*1218dup, NM_001388392.1:c.*1217_*1218dup, NM_001388392.1:c.*1216_*1218dup, NM_001388392.1:c.*1215_*1218dup, NM_001388393.1:c.*1211_*1218del, NM_001388393.1:c.*1212_*1218del, NM_001388393.1:c.*1213_*1218del, NM_001388393.1:c.*1214_*1218del, NM_001388393.1:c.*1215_*1218del, NM_001388393.1:c.*1216_*1218del, NM_001388393.1:c.*1217_*1218del, NM_001388393.1:c.*1218del, NM_001388393.1:c.*1218dup, NM_001388393.1:c.*1217_*1218dup, NM_001388393.1:c.*1216_*1218dup, NM_001388393.1:c.*1215_*1218dup, NM_001388394.1:c.*1211_*1218del, NM_001388394.1:c.*1212_*1218del, NM_001388394.1:c.*1213_*1218del, NM_001388394.1:c.*1214_*1218del, NM_001388394.1:c.*1215_*1218del, NM_001388394.1:c.*1216_*1218del, NM_001388394.1:c.*1217_*1218del, NM_001388394.1:c.*1218del, NM_001388394.1:c.*1218dup, NM_001388394.1:c.*1217_*1218dup, NM_001388394.1:c.*1216_*1218dup, NM_001388394.1:c.*1215_*1218dup, NR_170945.1:n.3931_3938del, NR_170945.1:n.3932_3938del, NR_170945.1:n.3933_3938del, NR_170945.1:n.3934_3938del, NR_170945.1:n.3935_3938del, NR_170945.1:n.3936_3938del, NR_170945.1:n.3937_3938del, NR_170945.1:n.3938del, NR_170945.1:n.3938dup, NR_170945.1:n.3937_3938dup, NR_170945.1:n.3936_3938dup, NR_170945.1:n.3935_3938dup, NR_170944.1:n.3841_3848del, NR_170944.1:n.3842_3848del, NR_170944.1:n.3843_3848del, NR_170944.1:n.3844_3848del, NR_170944.1:n.3845_3848del, NR_170944.1:n.3846_3848del, NR_170944.1:n.3847_3848del, NR_170944.1:n.3848del, NR_170944.1:n.3848dup, NR_170944.1:n.3847_3848dup, NR_170944.1:n.3846_3848dup, NR_170944.1:n.3845_3848dup, NR_170990.1:n.3787_3794del, NR_170990.1:n.3788_3794del, NR_170990.1:n.3789_3794del, NR_170990.1:n.3790_3794del, NR_170990.1:n.3791_3794del, NR_170990.1:n.3792_3794del, NR_170990.1:n.3793_3794del, NR_170990.1:n.3794del, NR_170990.1:n.3794dup, NR_170990.1:n.3793_3794dup, NR_170990.1:n.3792_3794dup, NR_170990.1:n.3791_3794dup, XM_017024028.3:c.*1433_*1440del, XM_017024028.3:c.*1434_*1440del, XM_017024028.3:c.*1435_*1440del, XM_017024028.3:c.*1436_*1440del, XM_017024028.3:c.*1437_*1440del, XM_017024028.3:c.*1438_*1440del, XM_017024028.3:c.*1439_*1440del, XM_017024028.3:c.*1440del, XM_017024028.3:c.*1440dup, XM_017024028.3:c.*1439_*1440dup, XM_017024028.3:c.*1438_*1440dup, XM_017024028.3:c.*1437_*1440dup, XM_017024027.2:c.*1433_*1440del, XM_017024027.2:c.*1434_*1440del, XM_017024027.2:c.*1435_*1440del, XM_017024027.2:c.*1436_*1440del, XM_017024027.2:c.*1437_*1440del, XM_017024027.2:c.*1438_*1440del, XM_017024027.2:c.*1439_*1440del, XM_017024027.2:c.*1440del, XM_017024027.2:c.*1440dup, XM_017024027.2:c.*1439_*1440dup, XM_017024027.2:c.*1438_*1440dup, XM_017024027.2:c.*1437_*1440dup, XM_047435151.1:c.*1433_*1440del, XM_047435151.1:c.*1434_*1440del, XM_047435151.1:c.*1435_*1440del, XM_047435151.1:c.*1436_*1440del, XM_047435151.1:c.*1437_*1440del, XM_047435151.1:c.*1438_*1440del, XM_047435151.1:c.*1439_*1440del, XM_047435151.1:c.*1440del, XM_047435151.1:c.*1440dup, XM_047435151.1:c.*1439_*1440dup, XM_047435151.1:c.*1438_*1440dup, XM_047435151.1:c.*1437_*1440dup, XM_047435149.1:c.*1433_*1440del, XM_047435149.1:c.*1434_*1440del, XM_047435149.1:c.*1435_*1440del, XM_047435149.1:c.*1436_*1440del, XM_047435149.1:c.*1437_*1440del, XM_047435149.1:c.*1438_*1440del, XM_047435149.1:c.*1439_*1440del, XM_047435149.1:c.*1440del, XM_047435149.1:c.*1440dup, XM_047435149.1:c.*1439_*1440dup, XM_047435149.1:c.*1438_*1440dup, XM_047435149.1:c.*1437_*1440dup, XM_047435152.1:c.*1433_*1440del, XM_047435152.1:c.*1434_*1440del, XM_047435152.1:c.*1435_*1440del, XM_047435152.1:c.*1436_*1440del, XM_047435152.1:c.*1437_*1440del, XM_047435152.1:c.*1438_*1440del, XM_047435152.1:c.*1439_*1440del, XM_047435152.1:c.*1440del, XM_047435152.1:c.*1440dup, XM_047435152.1:c.*1439_*1440dup, XM_047435152.1:c.*1438_*1440dup, XM_047435152.1:c.*1437_*1440dup, XM_047435153.1:c.*1433_*1440del, XM_047435153.1:c.*1434_*1440del, XM_047435153.1:c.*1435_*1440del, XM_047435153.1:c.*1436_*1440del, XM_047435153.1:c.*1437_*1440del, XM_047435153.1:c.*1438_*1440del, XM_047435153.1:c.*1439_*1440del, XM_047435153.1:c.*1440del, XM_047435153.1:c.*1440dup, XM_047435153.1:c.*1439_*1440dup, XM_047435153.1:c.*1438_*1440dup, XM_047435153.1:c.*1437_*1440dup, XM_047435150.1:c.*1433_*1440del, XM_047435150.1:c.*1434_*1440del, XM_047435150.1:c.*1435_*1440del, XM_047435150.1:c.*1436_*1440del, XM_047435150.1:c.*1437_*1440del, XM_047435150.1:c.*1438_*1440del, XM_047435150.1:c.*1439_*1440del, XM_047435150.1:c.*1440del, XM_047435150.1:c.*1440dup, XM_047435150.1:c.*1439_*1440dup, XM_047435150.1:c.*1438_*1440dup, XM_047435150.1:c.*1437_*1440dup, NM_017574.1:c.*534_*541del, NM_017574.1:c.*535_*541del, NM_017574.1:c.*536_*541del, NM_017574.1:c.*537_*541del, NM_017574.1:c.*538_*541del, NM_017574.1:c.*539_*541del, NM_017574.1:c.*540_*541del, NM_017574.1:c.*541del, NM_017574.1:c.*541dup, NM_017574.1:c.*540_*541dup, NM_017574.1:c.*539_*541dup, NM_017574.1:c.*538_*541dup, XM_047436580.1:c.*1211_*1218del, XM_047436580.1:c.*1212_*1218del, XM_047436580.1:c.*1213_*1218del, XM_047436580.1:c.*1214_*1218del, XM_047436580.1:c.*1215_*1218del, XM_047436580.1:c.*1216_*1218del, XM_047436580.1:c.*1217_*1218del, XM_047436580.1:c.*1218del, XM_047436580.1:c.*1218dup, XM_047436580.1:c.*1217_*1218dup, XM_047436580.1:c.*1216_*1218dup, XM_047436580.1:c.*1215_*1218dup, NM_152256.1:c.*123_*130del, NM_152256.1:c.*124_*130del, NM_152256.1:c.*125_*130del, NM_152256.1:c.*126_*130del, NM_152256.1:c.*127_*130del, NM_152256.1:c.*128_*130del, NM_152256.1:c.*129_*130del, NM_152256.1:c.*130del, NM_152256.1:c.*130dup, NM_152256.1:c.*129_*130dup, NM_152256.1:c.*128_*130dup, NM_152256.1:c.*127_*130dup

                                    18.

                                    rs1491256654 has merged into rs35272447 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
                                      Chromosome:
                                      17:17723348 (GRCh38)
                                      17:17626662 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:17723339:CCCCCCCCCCC:CCCCCCCC,NC_000017.11:17723339:CCCCCCCCCCC:CCCCCCCCC,NC_000017.11:17723339:CCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:17723339:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:17723339:CCCCCCCCCCC:CCCCCCCCCCCCC
                                      Gene:
                                      RAI1 (Varview), LOC124903943 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCCCCCCC=0.0004/2 (ALFA)
                                      -=0.0431/216 (1000Genomes)
                                      CC=0.35/14 (GENOME_DK)
                                      HGVS:

                                      19.

                                      rs1491248703 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TGCG,TGCGCG,TGCGCGCG,TGCGCGCGCG,TGCGCGCGCGCG,TGCGCGCGCGCGCG,TGCGTGCGCG,TGTGAGCGCGCG,TGTGCG,TGTGCGCG,TGTGCGCGCG,TGTGCGCGCGCG,TGTGCGCGCGCGCG,TGTGTGCG,TGTGTGCGCG,TGTGTGCGCGCG,TGTGTGCGCGCGCG,TGTGTGCGCGCGCGCG,TGTGTGTGCG,TGTGTGTGCGCG,TGTGTGTGCGCGCG,TGTGTGTGCGCGCGCG,TGTGTGTGCGCGCGCGCG,TGTGTGTGTGCG,TGTGTGTGTGCGCG,TGTGTGTGTGCGCGCG,TGTGTGTGTGCGCGCGCG,TGTGTGTGTGCGCGCGCGCG,TGTGTGTGTGTGCG,TGTGTGTGTGTGCGCGCGCG,TGTGTGTGTGTGTGCG,TGTGTGTGTGTGTGCGCG [Show Flanks]
                                        Chromosome:
                                        17:17686608 (GRCh38)
                                        17:17589923 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:17686608:G:GTGCG,NC_000017.11:17686608:G:GTGCGCG,NC_000017.11:17686608:G:GTGCGCGCG,NC_000017.11:17686608:G:GTGCGCGCGCG,NC_000017.11:17686608:G:GTGCGCGCGCGCG,NC_000017.11:17686608:G:GTGCGCGCGCGCGCG,NC_000017.11:17686608:G:GTGCGTGCGCG,NC_000017.11:17686608:G:GTGTGAGCGCGCG,NC_000017.11:17686608:G:GTGTGCG,NC_000017.11:17686608:G:GTGTGCGCG,NC_000017.11:17686608:G:GTGTGCGCGCG,NC_000017.11:17686608:G:GTGTGCGCGCGCG,NC_000017.11:17686608:G:GTGTGCGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGCG,NC_000017.11:17686608:G:GTGTGTGCGCG,NC_000017.11:17686608:G:GTGTGTGCGCGCG,NC_000017.11:17686608:G:GTGTGTGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGCGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGCG,NC_000017.11:17686608:G:GTGTGTGTGCGCG,NC_000017.11:17686608:G:GTGTGTGTGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGCG,NC_000017.11:17686608:G:GTGTGTGTGTGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGTGCG,NC_000017.11:17686608:G:GTGTGTGTGTGTGCGCGCGCG,NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCG,NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCGCG
                                        Gene:
                                        RAI1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGCGCG=0./0 (ALFA)
                                        HGVS:
                                        NC_000017.11:g.17686609_17686610insTGCG, NC_000017.11:g.17686609_17686610insTGCGCG, NC_000017.11:g.17686609_17686610insTGCGCGCG, NC_000017.11:g.17686609_17686610insTGCGCGCGCG, NC_000017.11:g.17686609_17686610insTGCGCGCGCGCG, NC_000017.11:g.17686609_17686610insTGCGCGCGCGCGCG, NC_000017.11:g.17686609GTGC[2]GCG[1], NC_000017.11:g.17686609GT[2]GAGCGCGCG[1], NC_000017.11:g.17686609GT[2]GCG[1], NC_000017.11:g.17686609GT[2]GC[2]G[1], NC_000017.11:g.17686609GT[2]GC[3]G[1], NC_000017.11:g.17686609GT[2]GC[4]G[1], NC_000017.11:g.17686609GT[2]GC[5]G[1], NC_000017.11:g.17686609GT[3]GCG[1], NC_000017.11:g.17686609GT[3]GC[2]G[1], NC_000017.11:g.17686609GT[3]GC[3]G[1], NC_000017.11:g.17686609GT[3]GC[4]G[1], NC_000017.11:g.17686609GT[3]GC[5]G[1], NC_000017.11:g.17686609GT[4]GCG[1], NC_000017.11:g.17686609GT[4]GC[2]G[1], NC_000017.11:g.17686609GT[4]GC[3]G[1], NC_000017.11:g.17686609GT[4]GC[4]G[1], NC_000017.11:g.17686609GT[4]GC[5]G[1], NC_000017.11:g.17686609GT[5]GCG[1], NC_000017.11:g.17686609GT[5]GC[2]G[1], NC_000017.11:g.17686609GT[5]GC[3]G[1], NC_000017.11:g.17686609GT[5]GC[4]G[1], NC_000017.11:g.17686609GT[5]GC[5]G[1], NC_000017.11:g.17686609GT[6]GCG[1], NC_000017.11:g.17686609GT[6]GC[4]G[1], NC_000017.11:g.17686609GT[7]GCG[1], NC_000017.11:g.17686609GT[7]GC[2]G[1], NC_000017.10:g.17589923_17589924insTGCG, NC_000017.10:g.17589923_17589924insTGCGCG, NC_000017.10:g.17589923_17589924insTGCGCGCG, NC_000017.10:g.17589923_17589924insTGCGCGCGCG, NC_000017.10:g.17589923_17589924insTGCGCGCGCGCG, NC_000017.10:g.17589923_17589924insTGCGCGCGCGCGCG, NC_000017.10:g.17589923GTGC[2]GCG[1], NC_000017.10:g.17589923GT[2]GAGCGCGCG[1], NC_000017.10:g.17589923GT[2]GCG[1], NC_000017.10:g.17589923GT[2]GC[2]G[1], NC_000017.10:g.17589923GT[2]GC[3]G[1], NC_000017.10:g.17589923GT[2]GC[4]G[1], NC_000017.10:g.17589923GT[2]GC[5]G[1], NC_000017.10:g.17589923GT[3]GCG[1], NC_000017.10:g.17589923GT[3]GC[2]G[1], NC_000017.10:g.17589923GT[3]GC[3]G[1], NC_000017.10:g.17589923GT[3]GC[4]G[1], NC_000017.10:g.17589923GT[3]GC[5]G[1], NC_000017.10:g.17589923GT[4]GCG[1], NC_000017.10:g.17589923GT[4]GC[2]G[1], NC_000017.10:g.17589923GT[4]GC[3]G[1], NC_000017.10:g.17589923GT[4]GC[4]G[1], NC_000017.10:g.17589923GT[4]GC[5]G[1], NC_000017.10:g.17589923GT[5]GCG[1], NC_000017.10:g.17589923GT[5]GC[2]G[1], NC_000017.10:g.17589923GT[5]GC[3]G[1], NC_000017.10:g.17589923GT[5]GC[4]G[1], NC_000017.10:g.17589923GT[5]GC[5]G[1], NC_000017.10:g.17589923GT[6]GCG[1], NC_000017.10:g.17589923GT[6]GC[4]G[1], NC_000017.10:g.17589923GT[7]GCG[1], NC_000017.10:g.17589923GT[7]GC[2]G[1], NG_007101.2:g.10137_10138insTGCG, NG_007101.2:g.10137_10138insTGCGCG, NG_007101.2:g.10137_10138insTGCGCGCG, NG_007101.2:g.10137_10138insTGCGCGCGCG, NG_007101.2:g.10137_10138insTGCGCGCGCGCG, NG_007101.2:g.10137_10138insTGCGCGCGCGCGCG, NG_007101.2:g.10137GTGC[2]GCG[1], NG_007101.2:g.10137GT[2]GAGCGCGCG[1], NG_007101.2:g.10137GT[2]GCG[1], NG_007101.2:g.10137GT[2]GC[2]G[1], NG_007101.2:g.10137GT[2]GC[3]G[1], NG_007101.2:g.10137GT[2]GC[4]G[1], NG_007101.2:g.10137GT[2]GC[5]G[1], NG_007101.2:g.10137GT[3]GCG[1], NG_007101.2:g.10137GT[3]GC[2]G[1], NG_007101.2:g.10137GT[3]GC[3]G[1], NG_007101.2:g.10137GT[3]GC[4]G[1], NG_007101.2:g.10137GT[3]GC[5]G[1], NG_007101.2:g.10137GT[4]GCG[1], NG_007101.2:g.10137GT[4]GC[2]G[1], NG_007101.2:g.10137GT[4]GC[3]G[1], NG_007101.2:g.10137GT[4]GC[4]G[1], NG_007101.2:g.10137GT[4]GC[5]G[1], NG_007101.2:g.10137GT[5]GCG[1], NG_007101.2:g.10137GT[5]GC[2]G[1], NG_007101.2:g.10137GT[5]GC[3]G[1], NG_007101.2:g.10137GT[5]GC[4]G[1], NG_007101.2:g.10137GT[5]GC[5]G[1], NG_007101.2:g.10137GT[6]GCG[1], NG_007101.2:g.10137GT[6]GC[4]G[1], NG_007101.2:g.10137GT[7]GCG[1], NG_007101.2:g.10137GT[7]GC[2]G[1]

                                        20.

                                        rs1491248380 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TT>- [Show Flanks]
                                          Chromosome:
                                          17:17808440 (GRCh38)
                                          17:17711754 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:17808437:TTTT:TT
                                          Gene:
                                          RAI1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TTTT=0./0 (ALFA)
                                          -=0.000008/1 (GnomAD)
                                          HGVS:

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