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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491583126 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    7:21943728 (GRCh38)
    7:21983347 (GRCh37)
    Canonical SPDI:
    NC_000007.14:21943728::A
    Gene:
    CDCA7L (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491554815 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      7:21930697 (GRCh38)
      7:21970315 (GRCh37)
      Canonical SPDI:
      NC_000007.14:21930696:CA:
      Gene:
      CDCA7L (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00076/9 (ALFA)
      -=0.0077/115 (TOMMO)
      HGVS:
      3.

      rs1491553254 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TACCGAGGGAGCTAAGAGAGGTTATACACCT [Show Flanks]
        Chromosome:
        7:21903653 (GRCh38)
        7:21943272 (GRCh37)
        Canonical SPDI:
        NC_000007.14:21903653:AGAGAGGTTATACACCT:AGAGAGGTTATACACCTTACCGAGGGAGCTAAGAGAGGTTATACACCT
        Gene:
        CDCA7L (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        AGAGAGGTTATACACCTTACCGAGGGAGCTA=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1491508777 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTTCCTTCCATTTCTGTCA [Show Flanks]
          Chromosome:
          7:21902703 (GRCh38)
          7:21942322 (GRCh37)
          Canonical SPDI:
          NC_000007.14:21902703:GTTCCTTCCATTTCTGTCA:GTTCCTTCCATTTCTGTCAGTTCCTTCCATTTCTGTCA
          Gene:
          CDCA7L (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTTCCTTCCATTTCTGTCAGTTCCTTCCATTTCTGTCA=0./0 (ALFA)
          GTTCCTTCCATTTCTGTCA=0.000004/1 (TOPMED)
          GTTCCTTCCATTTCTGTCA=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1491476082 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            GG>-
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491446921 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              7:21903658 (GRCh38)
              7:21943276 (GRCh37)
              Canonical SPDI:
              NC_000007.14:21903652:GAGAGAG:GAGAG
              Gene:
              CDCA7L (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GAGAG=0./0 (ALFA)
              HGVS:
              7.
              8.

              rs1491286846 has merged into rs3062638 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                7:21939972 (GRCh38)
                7:21979590 (GRCh37)
                Canonical SPDI:
                NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21939963:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                CDCA7L (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000007.14:g.21939972_21939984del, NC_000007.14:g.21939974_21939984del, NC_000007.14:g.21939975_21939984del, NC_000007.14:g.21939977_21939984del, NC_000007.14:g.21939978_21939984del, NC_000007.14:g.21939979_21939984del, NC_000007.14:g.21939980_21939984del, NC_000007.14:g.21939981_21939984del, NC_000007.14:g.21939982_21939984del, NC_000007.14:g.21939983_21939984del, NC_000007.14:g.21939984del, NC_000007.14:g.21939984dup, NC_000007.14:g.21939983_21939984dup, NC_000007.14:g.21939984_21939985insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.21939984_21939985insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.21979590_21979602del, NC_000007.13:g.21979592_21979602del, NC_000007.13:g.21979593_21979602del, NC_000007.13:g.21979595_21979602del, NC_000007.13:g.21979596_21979602del, NC_000007.13:g.21979597_21979602del, NC_000007.13:g.21979598_21979602del, NC_000007.13:g.21979599_21979602del, NC_000007.13:g.21979600_21979602del, NC_000007.13:g.21979601_21979602del, NC_000007.13:g.21979602del, NC_000007.13:g.21979602dup, NC_000007.13:g.21979601_21979602dup, NC_000007.13:g.21979602_21979603insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.21979602_21979603insAAAAAAAAAAAAAAAAAAAAAAAAAAA
                9.

                rs1491234420 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  7:21916514 (GRCh38)
                  7:21956132 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:21916513:TA:
                  Gene:
                  CDCA7L (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00003/1 (GnomAD)
                  HGVS:
                  10.

                  rs1491173315 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GAGATTCCACAATCATCTA [Show Flanks]
                    Chromosome:
                    7:21902416 (GRCh38)
                    7:21942035 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:21902416:AGAGATTCCACAATCATCTA:AGAGATTCCACAATCATCTAGAGATTCCACAATCATCTA
                    Gene:
                    CDCA7L (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGAGATTCCACAATCATCTAGAGATTCCACAATCATCTA=0.000071/1 (ALFA)
                    AGAGATTCCACAATCATCT=0.000008/2 (TOPMED)
                    AGAGATTCCACAATCATCT=0.000014/2 (GnomAD)
                    HGVS:
                    11.

                    rs1491172272 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      7:21939963 (GRCh38)
                      7:21979581 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:21939962:CA:
                      Gene:
                      CDCA7L (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00008/1 (ALFA)
                      HGVS:
                      12.

                      rs1491155782 has merged into rs71557529 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        7:21916524 (GRCh38)
                        7:21956142 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21916514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        CDCA7L (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        AAA=0.0216/108 (1000Genomes)
                        HGVS:
                        NC_000007.14:g.21916524_21916538del, NC_000007.14:g.21916525_21916538del, NC_000007.14:g.21916526_21916538del, NC_000007.14:g.21916527_21916538del, NC_000007.14:g.21916528_21916538del, NC_000007.14:g.21916529_21916538del, NC_000007.14:g.21916530_21916538del, NC_000007.14:g.21916531_21916538del, NC_000007.14:g.21916532_21916538del, NC_000007.14:g.21916533_21916538del, NC_000007.14:g.21916534_21916538del, NC_000007.14:g.21916535_21916538del, NC_000007.14:g.21916536_21916538del, NC_000007.14:g.21916537_21916538del, NC_000007.14:g.21916538del, NC_000007.14:g.21916538dup, NC_000007.14:g.21916537_21916538dup, NC_000007.14:g.21916536_21916538dup, NC_000007.14:g.21916535_21916538dup, NC_000007.14:g.21916534_21916538dup, NC_000007.14:g.21916531_21916538dup, NC_000007.14:g.21916522_21916538dup, NC_000007.14:g.21916519_21916538dup, NC_000007.14:g.21916518_21916538dup, NC_000007.13:g.21956142_21956156del, NC_000007.13:g.21956143_21956156del, NC_000007.13:g.21956144_21956156del, NC_000007.13:g.21956145_21956156del, NC_000007.13:g.21956146_21956156del, NC_000007.13:g.21956147_21956156del, NC_000007.13:g.21956148_21956156del, NC_000007.13:g.21956149_21956156del, NC_000007.13:g.21956150_21956156del, NC_000007.13:g.21956151_21956156del, NC_000007.13:g.21956152_21956156del, NC_000007.13:g.21956153_21956156del, NC_000007.13:g.21956154_21956156del, NC_000007.13:g.21956155_21956156del, NC_000007.13:g.21956156del, NC_000007.13:g.21956156dup, NC_000007.13:g.21956155_21956156dup, NC_000007.13:g.21956154_21956156dup, NC_000007.13:g.21956153_21956156dup, NC_000007.13:g.21956152_21956156dup, NC_000007.13:g.21956149_21956156dup, NC_000007.13:g.21956140_21956156dup, NC_000007.13:g.21956137_21956156dup, NC_000007.13:g.21956136_21956156dup
                        13.

                        rs1491082418 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          7:21939983 (GRCh38)
                          7:21979602 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:21939983::C
                          Gene:
                          CDCA7L (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000009/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490832335 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            7:21933154 (GRCh38)
                            7:21972772 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:21933153:G:A,NC_000007.14:21933153:G:T
                            Gene:
                            CDCA7L (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            A=0.000071/2 (TOMMO)
                            HGVS:
                            15.

                            rs1490827192 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:21939214 (GRCh38)
                              7:21978832 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:21939213:T:C
                              Gene:
                              CDCA7L (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              C=0.000342/1 (KOREAN)
                              HGVS:
                              16.

                              rs1490781984 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                7:21931508 (GRCh38)
                                7:21971126 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:21931507:C:G
                                Gene:
                                CDCA7L (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                17.

                                rs1490742430 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:21902538 (GRCh38)
                                  7:21942156 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:21902537:T:C
                                  Gene:
                                  CDCA7L (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490677819 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    7:21907213 (GRCh38)
                                    7:21946831 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:21907212:A:C,NC_000007.14:21907212:A:G
                                    Gene:
                                    CDCA7L (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490636519 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      7:21911510 (GRCh38)
                                      7:21951128 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:21911509:G:T
                                      Gene:
                                      CDCA7L (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490631088 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        7:21912408 (GRCh38)
                                        7:21952026 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:21912407:G:C
                                        Gene:
                                        CDCA7L (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

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