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Items: 1 to 20 of 1000

1.

rs1491586526 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    Y:1191317 (GRCh38)
    Y:0 (GRCh37)
    Canonical SPDI:
    NC_000024.10:1191315:TCT:T
    Gene:
    CRLF2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1491561781 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C,CTTTC [Show Flanks]
      Chromosome:
      Y:1192692 (GRCh38)
      Y:-1 (GRCh37)
      Canonical SPDI:
      NC_000024.10:1192692::C,NC_000024.10:1192692::CTTTC
      Gene:
      CRLF2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491531983 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        Y:1213267 (GRCh38)
        Y:1282160 (GRCh37)
        Canonical SPDI:
        NC_000024.10:1213266:TT:
        Gene:
        CRLF2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491531020 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          Y:1191332 (GRCh38)
          Y:-1 (GRCh37)
          Canonical SPDI:
          NC_000024.10:1191332:C:CC
          Gene:
          CRLF2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0./0 (ALFA)
          C=0.000083/2 (TOMMO)
          C=0.000302/33 (GnomAD)
          HGVS:
          5.
          6.

          rs1491509164 has merged into rs782280523 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            Y:1203105 (GRCh38)
            Y:1271974 (GRCh37)
            Canonical SPDI:
            NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1203095:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CRLF2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            A=0.0101/38 (1000Genomes)
            HGVS:
            NC_000024.10:g.1203105_1203121del, NC_000024.10:g.1203106_1203121del, NC_000024.10:g.1203107_1203121del, NC_000024.10:g.1203108_1203121del, NC_000024.10:g.1203109_1203121del, NC_000024.10:g.1203110_1203121del, NC_000024.10:g.1203111_1203121del, NC_000024.10:g.1203113_1203121del, NC_000024.10:g.1203114_1203121del, NC_000024.10:g.1203115_1203121del, NC_000024.10:g.1203116_1203121del, NC_000024.10:g.1203117_1203121del, NC_000024.10:g.1203118_1203121del, NC_000024.10:g.1203119_1203121del, NC_000024.10:g.1203120_1203121del, NC_000024.10:g.1203121del, NC_000024.10:g.1203121dup, NC_000024.10:g.1203120_1203121dup, NC_000024.10:g.1203119_1203121dup, NC_000024.10:g.1203118_1203121dup, NC_000024.10:g.1203117_1203121dup, NC_000024.10:g.1203114_1203121dup, NC_000024.9:g.1271985_1271987dup, NC_000024.9:g.1271974_1271987del, NC_000024.9:g.1271975_1271987del, NC_000024.9:g.1271976_1271987del, NC_000024.9:g.1271977_1271987del, NC_000024.9:g.1271978_1271987del, NC_000024.9:g.1271979_1271987del, NC_000024.9:g.1271980_1271987del, NC_000024.9:g.1271982_1271987del, NC_000024.9:g.1271983_1271987del, NC_000024.9:g.1271984_1271987del, NC_000024.9:g.1271985_1271987del, NC_000024.9:g.1271986_1271987del, NC_000024.9:g.1271987del, NC_000024.9:g.1271987dup, NC_000024.9:g.1271986_1271987dup, NC_000024.9:g.1271984_1271987dup, NC_000024.9:g.1271983_1271987dup, NC_000024.9:g.1271982_1271987dup, NC_000024.9:g.1271981_1271987dup, NC_000024.9:g.1271980_1271987dup, NC_000024.9:g.1271977_1271987dup, NG_034237.1:g.14612_14628del, NG_034237.1:g.14613_14628del, NG_034237.1:g.14614_14628del, NG_034237.1:g.14615_14628del, NG_034237.1:g.14616_14628del, NG_034237.1:g.14617_14628del, NG_034237.1:g.14618_14628del, NG_034237.1:g.14620_14628del, NG_034237.1:g.14621_14628del, NG_034237.1:g.14622_14628del, NG_034237.1:g.14623_14628del, NG_034237.1:g.14624_14628del, NG_034237.1:g.14625_14628del, NG_034237.1:g.14626_14628del, NG_034237.1:g.14627_14628del, NG_034237.1:g.14628del, NG_034237.1:g.14628dup, NG_034237.1:g.14627_14628dup, NG_034237.1:g.14626_14628dup, NG_034237.1:g.14625_14628dup, NG_034237.1:g.14624_14628dup, NG_034237.1:g.14621_14628dup, NC_000023.11:g.1203105_1203121del, NC_000023.11:g.1203106_1203121del, NC_000023.11:g.1203107_1203121del, NC_000023.11:g.1203108_1203121del, NC_000023.11:g.1203109_1203121del, NC_000023.11:g.1203110_1203121del, NC_000023.11:g.1203111_1203121del, NC_000023.11:g.1203113_1203121del, NC_000023.11:g.1203114_1203121del, NC_000023.11:g.1203115_1203121del, NC_000023.11:g.1203116_1203121del, NC_000023.11:g.1203117_1203121del, NC_000023.11:g.1203118_1203121del, NC_000023.11:g.1203119_1203121del, NC_000023.11:g.1203120_1203121del, NC_000023.11:g.1203121del, NC_000023.11:g.1203121dup, NC_000023.11:g.1203120_1203121dup, NC_000023.11:g.1203119_1203121dup, NC_000023.11:g.1203118_1203121dup, NC_000023.11:g.1203117_1203121dup, NC_000023.11:g.1203114_1203121dup, NC_000023.10:g.1321985_1321987dup, NC_000023.10:g.1321974_1321987del, NC_000023.10:g.1321975_1321987del, NC_000023.10:g.1321976_1321987del, NC_000023.10:g.1321977_1321987del, NC_000023.10:g.1321978_1321987del, NC_000023.10:g.1321979_1321987del, NC_000023.10:g.1321980_1321987del, NC_000023.10:g.1321982_1321987del, NC_000023.10:g.1321983_1321987del, NC_000023.10:g.1321984_1321987del, NC_000023.10:g.1321985_1321987del, NC_000023.10:g.1321986_1321987del, NC_000023.10:g.1321987del, NC_000023.10:g.1321987dup, NC_000023.10:g.1321986_1321987dup, NC_000023.10:g.1321984_1321987dup, NC_000023.10:g.1321983_1321987dup, NC_000023.10:g.1321982_1321987dup, NC_000023.10:g.1321981_1321987dup, NC_000023.10:g.1321980_1321987dup, NC_000023.10:g.1321977_1321987dup
            7.

            rs1491495555 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C,CTCTCCCCTCCCCTTCCCCCC [Show Flanks]
              Chromosome:
              Y:1213055 (GRCh38)
              Y:1281949 (GRCh37)
              Canonical SPDI:
              NC_000024.10:1213055:CCCCC:CCCCCC,NC_000024.10:1213055:CCCCC:CCCCCCTCTCCCCTCCCCTTCCCCCC
              Gene:
              CRLF2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CCCCCCTCTCCCCTCCCCTTCCCCCC=0./0 (ALFA)
              HGVS:
              8.

              rs1491495186 has merged into rs1371518156 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTT>-,TT,TTT,TTTTTT [Show Flanks]
                Chromosome:
                Y:1192693 (GRCh38)
                Y:0 (GRCh37)
                Canonical SPDI:
                NC_000024.10:1192691:TTTTT:T,NC_000024.10:1192691:TTTTT:TTT,NC_000024.10:1192691:TTTTT:TTTT,NC_000024.10:1192691:TTTTT:TTTTTTT
                Gene:
                CRLF2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                -=0.000045/12 (TOPMED)
                HGVS:
                9.

                rs1491440516 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TTTG,TTTGTG,TTTTG,TTTTTATATTCTTTCTTTTTTTCCCA,TTTTTG,TTTTTGGG,TTTTTTGG [Show Flanks]
                  Chromosome:
                  Y:1197110 (GRCh38)
                  Y:1265228 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:1197110::TTTG,NC_000024.10:1197110::TTTGTG,NC_000024.10:1197110::TTTTG,NC_000024.10:1197110::TTTTTATATTCTTTCTTTTTTTCCCA,NC_000024.10:1197110::TTTTTG,NC_000024.10:1197110::TTTTTGGG,NC_000024.10:1197110::TTTTTTGG
                  Gene:
                  CRLF2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTG=0./0 (ALFA)
                  TTTTTG=0.00021/6 (TOMMO)
                  HGVS:
                  NC_000024.10:g.1197110_1197111insTTTG, NC_000024.10:g.1197110_1197111insTTTGTG, NC_000024.10:g.1197110_1197111insTTTTG, NC_000024.10:g.1197110_1197111insTTTTTATATTCTTTCTTTTTTTCCCA, NC_000024.10:g.1197110_1197111insTTTTTG, NC_000024.10:g.1197110_1197111insTTTTTGGG, NC_000024.10:g.1197110_1197111insTTTTTTGG, NC_000024.9:g.1265227_1265228insTTTG, NC_000024.9:g.1265227_1265228insTTTGTG, NC_000024.9:g.1265227_1265228insTTTTG, NC_000024.9:g.1265227_1265228insTTTTTATATTCTTTCTTTTTTTCCCA, NC_000024.9:g.1265227_1265228insTTTTTG, NC_000024.9:g.1265227_1265228insTTTTTGGG, NC_000024.9:g.1265227_1265228insTTTTTTGG, NG_034237.1:g.20613_20614insCAAA, NG_034237.1:g.20613_20614insCACAAA, NG_034237.1:g.20613_20614insCAAAA, NG_034237.1:g.20613_20614insTGGGAAAAAAAGAAAGAATATAAAAA, NG_034237.1:g.20613_20614insCAAAAA, NG_034237.1:g.20613_20614insCCCAAAAA, NG_034237.1:g.20613_20614insCCAAAAAA, NC_000023.11:g.1197110_1197111insTTTG, NC_000023.11:g.1197110_1197111insTTTGTG, NC_000023.11:g.1197110_1197111insTTTTG, NC_000023.11:g.1197110_1197111insTTTTTATATTCTTTCTTTTTTTCCCA, NC_000023.11:g.1197110_1197111insTTTTTG, NC_000023.11:g.1197110_1197111insTTTTTGGG, NC_000023.11:g.1197110_1197111insTTTTTTGG, NC_000023.10:g.1315227_1315228insTTTG, NC_000023.10:g.1315227_1315228insTTTGTG, NC_000023.10:g.1315227_1315228insTTTTG, NC_000023.10:g.1315227_1315228insTTTTTATATTCTTTCTTTTTTTCCCA, NC_000023.10:g.1315227_1315228insTTTTTG, NC_000023.10:g.1315227_1315228insTTTTTGGG, NC_000023.10:g.1315227_1315228insTTTTTTGG
                  10.

                  rs1491436117 has merged into rs1176813644 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    Y:1193789 (GRCh38)
                    Y:6 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:1193781:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    CRLF2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000024.10:g.1193789_1193803del, NC_000024.10:g.1193790_1193803del, NC_000024.10:g.1193792_1193803del, NC_000024.10:g.1193793_1193803del, NC_000024.10:g.1193794_1193803del, NC_000024.10:g.1193795_1193803del, NC_000024.10:g.1193796_1193803del, NC_000024.10:g.1193797_1193803del, NC_000024.10:g.1193798_1193803del, NC_000024.10:g.1193799_1193803del, NC_000024.10:g.1193800_1193803del, NC_000024.10:g.1193801_1193803del, NC_000024.10:g.1193802_1193803del, NC_000024.10:g.1193803del, NC_000024.10:g.1193803dup, NC_000024.10:g.1193802_1193803dup, NC_000024.10:g.1193801_1193803dup, NC_000024.10:g.1193800_1193803dup, NC_000024.10:g.1193799_1193803dup, NC_000024.10:g.1193798_1193803dup, NC_000024.10:g.1193797_1193803dup, NC_000024.10:g.1193796_1193803dup, NC_000024.10:g.1193795_1193803dup, NC_000024.10:g.1193794_1193803dup, NG_034237.1:g.23928_23942del, NG_034237.1:g.23929_23942del, NG_034237.1:g.23931_23942del, NG_034237.1:g.23932_23942del, NG_034237.1:g.23933_23942del, NG_034237.1:g.23934_23942del, NG_034237.1:g.23935_23942del, NG_034237.1:g.23936_23942del, NG_034237.1:g.23937_23942del, NG_034237.1:g.23938_23942del, NG_034237.1:g.23939_23942del, NG_034237.1:g.23940_23942del, NG_034237.1:g.23941_23942del, NG_034237.1:g.23942del, NG_034237.1:g.23942dup, NG_034237.1:g.23941_23942dup, NG_034237.1:g.23940_23942dup, NG_034237.1:g.23939_23942dup, NG_034237.1:g.23938_23942dup, NG_034237.1:g.23937_23942dup, NG_034237.1:g.23936_23942dup, NG_034237.1:g.23935_23942dup, NG_034237.1:g.23934_23942dup, NG_034237.1:g.23933_23942dup, NC_000023.11:g.1193789_1193803del, NC_000023.11:g.1193790_1193803del, NC_000023.11:g.1193792_1193803del, NC_000023.11:g.1193793_1193803del, NC_000023.11:g.1193794_1193803del, NC_000023.11:g.1193795_1193803del, NC_000023.11:g.1193796_1193803del, NC_000023.11:g.1193797_1193803del, NC_000023.11:g.1193798_1193803del, NC_000023.11:g.1193799_1193803del, NC_000023.11:g.1193800_1193803del, NC_000023.11:g.1193801_1193803del, NC_000023.11:g.1193802_1193803del, NC_000023.11:g.1193803del, NC_000023.11:g.1193803dup, NC_000023.11:g.1193802_1193803dup, NC_000023.11:g.1193801_1193803dup, NC_000023.11:g.1193800_1193803dup, NC_000023.11:g.1193799_1193803dup, NC_000023.11:g.1193798_1193803dup, NC_000023.11:g.1193797_1193803dup, NC_000023.11:g.1193796_1193803dup, NC_000023.11:g.1193795_1193803dup, NC_000023.11:g.1193794_1193803dup
                    11.

                    rs1491422134 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T,TCCTTT,TCCTTTCTTT,TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,TCTTT,TCTTTCCTTT,TCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,TCTTTCTTT,TCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,TCTTTCTTTCTTT,TCTTTCTTTCTTTCTTT,TCTTTCTTTCTTTCTTTCTTT,TCTTTCTTTCTTTCTTTCTTTCTTT,TCTTTCTTTCTTTCTTTCTTTCTTTCTTT,TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,TCTTTCTTTT,TCTTTCTTTTT,TCTTTT,TT [Show Flanks]
                      Chromosome:
                      Y:1191346 (GRCh38)
                      Y:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:1191346:TT:TTT,NC_000024.10:1191346:TT:TTTCCTTT,NC_000024.10:1191346:TT:TTTCCTTTCTTT,NC_000024.10:1191346:TT:TTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCCTTT,NC_000024.10:1191346:TT:TTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTT,NC_000024.10:1191346:TT:TTTCTTTCTTTTT,NC_000024.10:1191346:TT:TTTCTTTT,NC_000024.10:1191346:TT:TTTT
                      Gene:
                      CRLF2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTCTTT=0./0 (ALFA)
                      HGVS:
                      NC_000024.10:g.1191348dup, NC_000024.10:g.1191348_1191349insTCCTTT, NC_000024.10:g.1191348_1191349insTCCTTTCTTT, NC_000024.10:g.1191348_1191349insTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT, NC_000024.10:g.1191348_1191349insTCTTT, NC_000024.10:g.1191347_1191348TTTC[2]CTTT[1], NC_000024.10:g.1191347_1191348TTTC[2]CTTT[10], NC_000024.10:g.1191347_1191348TTTC[2]TTT[1], NC_000024.10:g.1191347_1191348TTTC[3]CTTT[9], NC_000024.10:g.1191347_1191348TTTC[3]TTT[1], NC_000024.10:g.1191347_1191348TTTC[4]TTT[1], NC_000024.10:g.1191347_1191348TTTC[5]TTT[1], NC_000024.10:g.1191347_1191348TTTC[6]TTT[1], NC_000024.10:g.1191347_1191348TTTC[7]TTT[1], NC_000024.10:g.1191347_1191348TTTC[8]TTT[1], NC_000024.10:g.1191347_1191348TTTC[2]T[4], NC_000024.10:g.1191347_1191348TTTC[2]T[5], NC_000024.10:g.1191348_1191349insTCTTTT, NC_000024.10:g.1191347_1191348dup, NG_034237.1:g.26377dup, NG_034237.1:g.26377_26378insAGGAAA, NG_034237.1:g.26376_26377AAAG[2]GAAA[1], NG_034237.1:g.26376_26377AAAG[9]GAAA[1], NG_034237.1:g.26377_26378insAGAAA, NG_034237.1:g.26377_26378insAGGAAAGAAA, NG_034237.1:g.26376_26377AAAG[10]GAAA[2], NG_034237.1:g.26376_26377AAAG[2]AAA[1], NG_034237.1:g.26376_26377AAAG[9]GAAA[3], NG_034237.1:g.26376_26377AAAG[3]AAA[1], NG_034237.1:g.26376_26377AAAG[4]AAA[1], NG_034237.1:g.26376_26377AAAG[5]AAA[1], NG_034237.1:g.26376_26377AAAG[6]AAA[1], NG_034237.1:g.26376_26377AAAG[7]AAA[1], NG_034237.1:g.26376_26377AAAG[8]AAA[1], NG_034237.1:g.26376_26377A[4]GAAA[2], NG_034237.1:g.26376_26377A[5]GAAA[2], NG_034237.1:g.26376_26377A[4]GAAA[1], NG_034237.1:g.26376_26377dup, NC_000023.11:g.1191348dup, NC_000023.11:g.1191348_1191349insTCCTTT, NC_000023.11:g.1191348_1191349insTCCTTTCTTT, NC_000023.11:g.1191348_1191349insTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT, NC_000023.11:g.1191348_1191349insTCTTT, NC_000023.11:g.1191347_1191348TTTC[2]CTTT[1], NC_000023.11:g.1191347_1191348TTTC[2]CTTT[10], NC_000023.11:g.1191347_1191348TTTC[2]TTT[1], NC_000023.11:g.1191347_1191348TTTC[3]CTTT[9], NC_000023.11:g.1191347_1191348TTTC[3]TTT[1], NC_000023.11:g.1191347_1191348TTTC[4]TTT[1], NC_000023.11:g.1191347_1191348TTTC[5]TTT[1], NC_000023.11:g.1191347_1191348TTTC[6]TTT[1], NC_000023.11:g.1191347_1191348TTTC[7]TTT[1], NC_000023.11:g.1191347_1191348TTTC[8]TTT[1], NC_000023.11:g.1191347_1191348TTTC[2]T[4], NC_000023.11:g.1191347_1191348TTTC[2]T[5], NC_000023.11:g.1191348_1191349insTCTTTT, NC_000023.11:g.1191347_1191348dup
                      12.

                      rs1491421461 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        Y:1207422 (GRCh38)
                        Y:1276315 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:1207421:AT:
                        Gene:
                        CRLF2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.000007/1 (GnomAD)
                        -=0.000248/7 (TOMMO)
                        HGVS:
                        13.

                        rs1491393817 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          Y:1203095 (GRCh38)
                          Y:1271965 (GRCh37)
                          Canonical SPDI:
                          NC_000024.10:1203094:CA:
                          Gene:
                          CRLF2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.00067/8 (ALFA)
                          -=0.00069/19 (TOMMO)
                          HGVS:
                          14.

                          rs1491383356 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            Y:1193781 (GRCh38)
                            Y:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:1193780:CA:
                            Gene:
                            CRLF2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00017/2 (ALFA)
                            -=0.00042/11 (TOMMO)
                            HGVS:
                            15.

                            rs1491353238 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              Y:1207422 (GRCh38)
                              Y:1276316 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:1207422:TTTTTTT:TTTTTTTT
                              Gene:
                              CRLF2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTT=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000008/1 (GnomAD)
                              HGVS:
                              16.

                              rs1491353181 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                Y:1191346 (GRCh38)
                                Y:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:1191345:CT:
                                Gene:
                                CRLF2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00008/1 (ALFA)
                                HGVS:
                                17.

                                rs1491326105 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GTGG,GTGGATGGGTGG [Show Flanks]
                                  Chromosome:
                                  Y:1211361 (GRCh38)
                                  Y:1280255 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:1211361:TGG:TGGGTGG,NC_000024.10:1211361:TGG:TGGGTGGATGGGTGG
                                  Gene:
                                  CRLF2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TGGGTGGATGGGTGG=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1491227362 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    Y:1191316 (GRCh38)
                                    Y:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000024.10:1191316:C:CC
                                    Gene:
                                    CRLF2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0.00025/3 (ALFA)
                                    HGVS:
                                    19.

                                    rs1491216688 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C,CTTCC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC [Show Flanks]
                                      Chromosome:
                                      Y:1191352 (GRCh38)
                                      Y:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:1191352:C:CC,NC_000024.10:1191352:C:CCTTCC,NC_000024.10:1191352:C:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC
                                      Gene:
                                      CRLF2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CC=0.00008/1 (ALFA)
                                      HGVS:
                                      20.

                                      rs1491200591 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        Y:1191333 (GRCh38)
                                        Y:0 (GRCh37)
                                        Canonical SPDI:
                                        NC_000024.10:1191331:TCT:T
                                        Gene:
                                        CRLF2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.000045/5 (GnomAD)
                                        HGVS:

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