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Items: 1 to 20 of 13746

1.

rs1491565260 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    3:53316596 (GRCh38)
    3:53350624 (GRCh37)
    Canonical SPDI:
    NC_000003.12:53316595:CT:
    Gene:
    DCP1A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000087/9 (GnomAD)
    HGVS:
    2.

    rs1491511464 has merged into rs71087077 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
      Chromosome:
      3:53330836 (GRCh38)
      3:53364863 (GRCh37)
      Canonical SPDI:
      NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:53330825:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
      Gene:
      DCP1A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      -=0.28763/172 (NorthernSweden)
      -=0.325/13 (GENOME_DK)
      -=0.37081/1857 (1000Genomes)
      HGVS:
      3.

      rs1491487644 has merged into rs200145954 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>-,ATAT,ATATAT [Show Flanks]
        Chromosome:
        3:53322481 (GRCh38)
        3:53356508 (GRCh37)
        Canonical SPDI:
        NC_000003.12:53322467:TATATATATATATAT:TATATATATATAT,NC_000003.12:53322467:TATATATATATATAT:TATATATATATATATAT,NC_000003.12:53322467:TATATATATATATAT:TATATATATATATATATAT
        Gene:
        DCP1A (Varview), LOC124909380 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATATATATATATATAT=0./0 (ALFA)
        TA=0.02509/421 (TOMMO)
        TA=0.05072/254 (1000Genomes)
        TA=0.05416/99 (Korea1K)
        HGVS:
        4.

        rs1491485608 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          3:53315758 (GRCh38)
          3:53349788 (GRCh37)
          Canonical SPDI:
          NC_000003.12:53315758::G
          Gene:
          DCP1A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.00004/1 (TOMMO)
          HGVS:
          5.

          rs1491473251 has merged into rs369209976 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
            Chromosome:
            3:53326986 (GRCh38)
            3:53361013 (GRCh37)
            Canonical SPDI:
            NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC
            Gene:
            DCP1A (Varview), LOC124909380 (Varview)
            Functional Consequence:
            intron_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCCCCCCC=0./0 (ALFA)
            -=0.185/111 (NorthernSweden)
            -=0.225/9 (GENOME_DK)
            HGVS:
            6.

            rs1491438387 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CA [Show Flanks]
              Chromosome:
              3:53322468 (GRCh38)
              3:53356496 (GRCh37)
              Canonical SPDI:
              NC_000003.12:53322468:A:ACA
              Gene:
              DCP1A (Varview), LOC124909380 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACA=0./0 (ALFA)
              AC=0.000007/1 (GnomAD)
              AC=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1491408020 has merged into rs369209976 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
                Chromosome:
                3:53326986 (GRCh38)
                3:53361013 (GRCh37)
                Canonical SPDI:
                NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:53326976:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC
                Gene:
                DCP1A (Varview), LOC124909380 (Varview)
                Functional Consequence:
                intron_variant,500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCCCCC=0./0 (ALFA)
                -=0.185/111 (NorthernSweden)
                -=0.225/9 (GENOME_DK)
                HGVS:
                8.

                rs1491388932 has merged into rs1359300693 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  3:53315768 (GRCh38)
                  3:53349797 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53315757:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  DCP1A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  T=0.00223/35 (TOMMO)
                  -=0.45801/829 (Korea1K)
                  HGVS:
                  NC_000003.12:g.53315768_53315771del, NC_000003.12:g.53315770_53315771del, NC_000003.12:g.53315771del, NC_000003.12:g.53315771dup, NC_000003.12:g.53315770_53315771dup, NC_000003.12:g.53315768_53315771dup, NC_000003.12:g.53315761_53315771dup, NC_000003.12:g.53315758_53315771dup, NC_000003.12:g.53315771_53315772insTTTTTTTTTTTTTTT, NW_004775426.1:g.164723_164726del, NW_004775426.1:g.164725_164726del, NW_004775426.1:g.164726del, NW_004775426.1:g.164726dup, NW_004775426.1:g.164725_164726dup, NW_004775426.1:g.164723_164726dup, NW_004775426.1:g.164716_164726dup, NW_004775426.1:g.164713_164726dup, NW_004775426.1:g.164726_164727insTTTTTTTTTTTTTTT, NC_000003.11:g.53349799dup, NC_000003.11:g.53349797_53349799del, NC_000003.11:g.53349799del, NC_000003.11:g.53349798_53349799dup, NC_000003.11:g.53349797_53349799dup, NC_000003.11:g.53349795_53349799dup, NC_000003.11:g.53349788_53349799dup, NC_000003.11:g.53349799_53349800insTTTTTTTTTTTTTTT, NC_000003.11:g.53349799_53349800insTTTTTTTTTTTTTTTT
                  9.

                  rs1491352492 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    3:53344150 (GRCh38)
                    3:53378177 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:53344149:AG:
                    Gene:
                    DCP1A (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1491306732 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AC>- [Show Flanks]
                      Chromosome:
                      3:53326976 (GRCh38)
                      3:53361003 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:53326975:AC:
                      Gene:
                      DCP1A (Varview), LOC124909380 (Varview)
                      Functional Consequence:
                      intron_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00017/2 (ALFA)
                      HGVS:
                      11.

                      rs1491283767 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CTT [Show Flanks]
                        Chromosome:
                        3:53314668 (GRCh38)
                        3:53348699 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:53314668:TT:TTCTT
                        Gene:
                        DCP1A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTCTT=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491224878 has merged into rs1211486616 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          3:53315543 (GRCh38)
                          3:53349572 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53315534:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          DCP1A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAA=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.53315543_53315557del, NC_000003.12:g.53315545_53315557del, NC_000003.12:g.53315546_53315557del, NC_000003.12:g.53315547_53315557del, NC_000003.12:g.53315549_53315557del, NC_000003.12:g.53315550_53315557del, NC_000003.12:g.53315551_53315557del, NC_000003.12:g.53315552_53315557del, NC_000003.12:g.53315553_53315557del, NC_000003.12:g.53315554_53315557del, NC_000003.12:g.53315555_53315557del, NC_000003.12:g.53315556_53315557del, NC_000003.12:g.53315557del, NC_000003.12:g.53315557dup, NC_000003.12:g.53315556_53315557dup, NC_000003.12:g.53315555_53315557dup, NC_000003.12:g.53315554_53315557dup, NC_000003.12:g.53315553_53315557dup, NC_000003.12:g.53315552_53315557dup, NC_000003.12:g.53315551_53315557dup, NC_000003.12:g.53315549_53315557dup, NW_004775426.1:g.164498_164512del, NW_004775426.1:g.164500_164512del, NW_004775426.1:g.164501_164512del, NW_004775426.1:g.164502_164512del, NW_004775426.1:g.164504_164512del, NW_004775426.1:g.164505_164512del, NW_004775426.1:g.164506_164512del, NW_004775426.1:g.164507_164512del, NW_004775426.1:g.164508_164512del, NW_004775426.1:g.164509_164512del, NW_004775426.1:g.164510_164512del, NW_004775426.1:g.164511_164512del, NW_004775426.1:g.164512del, NW_004775426.1:g.164512dup, NW_004775426.1:g.164511_164512dup, NW_004775426.1:g.164510_164512dup, NW_004775426.1:g.164509_164512dup, NW_004775426.1:g.164508_164512dup, NW_004775426.1:g.164507_164512dup, NW_004775426.1:g.164506_164512dup, NW_004775426.1:g.164504_164512dup, NC_000003.11:g.53349572_53349586del, NC_000003.11:g.53349574_53349586del, NC_000003.11:g.53349575_53349586del, NC_000003.11:g.53349576_53349586del, NC_000003.11:g.53349578_53349586del, NC_000003.11:g.53349579_53349586del, NC_000003.11:g.53349580_53349586del, NC_000003.11:g.53349581_53349586del, NC_000003.11:g.53349582_53349586del, NC_000003.11:g.53349583_53349586del, NC_000003.11:g.53349584_53349586del, NC_000003.11:g.53349585_53349586del, NC_000003.11:g.53349586del, NC_000003.11:g.53349586dup, NC_000003.11:g.53349585_53349586dup, NC_000003.11:g.53349584_53349586dup, NC_000003.11:g.53349583_53349586dup, NC_000003.11:g.53349582_53349586dup, NC_000003.11:g.53349581_53349586dup, NC_000003.11:g.53349580_53349586dup, NC_000003.11:g.53349578_53349586dup
                          13.

                          rs1491141486 has merged into rs1167830951 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            3:53314673 (GRCh38)
                            3:53348703 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:53314667:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            DCP1A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTT=0./0 (ALFA)
                            -=0.000079/21 (TOPMED)
                            HGVS:
                            NC_000003.12:g.53314673_53314689del, NC_000003.12:g.53314675_53314689del, NC_000003.12:g.53314676_53314689del, NC_000003.12:g.53314677_53314689del, NC_000003.12:g.53314678_53314689del, NC_000003.12:g.53314679_53314689del, NC_000003.12:g.53314680_53314689del, NC_000003.12:g.53314681_53314689del, NC_000003.12:g.53314682_53314689del, NC_000003.12:g.53314683_53314689del, NC_000003.12:g.53314684_53314689del, NC_000003.12:g.53314685_53314689del, NC_000003.12:g.53314686_53314689del, NC_000003.12:g.53314687_53314689del, NC_000003.12:g.53314688_53314689del, NC_000003.12:g.53314689del, NC_000003.12:g.53314689dup, NC_000003.12:g.53314688_53314689dup, NC_000003.12:g.53314687_53314689dup, NC_000003.12:g.53314686_53314689dup, NC_000003.12:g.53314685_53314689dup, NC_000003.12:g.53314684_53314689dup, NC_000003.12:g.53314683_53314689dup, NC_000003.12:g.53314682_53314689dup, NC_000003.12:g.53314681_53314689dup, NC_000003.12:g.53314680_53314689dup, NC_000003.12:g.53314679_53314689dup, NC_000003.12:g.53314678_53314689dup, NC_000003.12:g.53314677_53314689dup, NC_000003.12:g.53314676_53314689dup, NC_000003.12:g.53314675_53314689dup, NC_000003.12:g.53314674_53314689dup, NC_000003.12:g.53314673_53314689dup, NC_000003.12:g.53314671_53314689dup, NC_000003.12:g.53314689_53314690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.53314689_53314690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775426.1:g.163628_163644del, NW_004775426.1:g.163630_163644del, NW_004775426.1:g.163631_163644del, NW_004775426.1:g.163632_163644del, NW_004775426.1:g.163633_163644del, NW_004775426.1:g.163634_163644del, NW_004775426.1:g.163635_163644del, NW_004775426.1:g.163636_163644del, NW_004775426.1:g.163637_163644del, NW_004775426.1:g.163638_163644del, NW_004775426.1:g.163639_163644del, NW_004775426.1:g.163640_163644del, NW_004775426.1:g.163641_163644del, NW_004775426.1:g.163642_163644del, NW_004775426.1:g.163643_163644del, NW_004775426.1:g.163644del, NW_004775426.1:g.163644dup, NW_004775426.1:g.163643_163644dup, NW_004775426.1:g.163642_163644dup, NW_004775426.1:g.163641_163644dup, NW_004775426.1:g.163640_163644dup, NW_004775426.1:g.163639_163644dup, NW_004775426.1:g.163638_163644dup, NW_004775426.1:g.163637_163644dup, NW_004775426.1:g.163636_163644dup, NW_004775426.1:g.163635_163644dup, NW_004775426.1:g.163634_163644dup, NW_004775426.1:g.163633_163644dup, NW_004775426.1:g.163632_163644dup, NW_004775426.1:g.163631_163644dup, NW_004775426.1:g.163630_163644dup, NW_004775426.1:g.163629_163644dup, NW_004775426.1:g.163628_163644dup, NW_004775426.1:g.163626_163644dup, NW_004775426.1:g.163644_163645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004775426.1:g.163644_163645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.53348718dup, NC_000003.11:g.53348703_53348718del, NC_000003.11:g.53348705_53348718del, NC_000003.11:g.53348706_53348718del, NC_000003.11:g.53348707_53348718del, NC_000003.11:g.53348708_53348718del, NC_000003.11:g.53348709_53348718del, NC_000003.11:g.53348710_53348718del, NC_000003.11:g.53348711_53348718del, NC_000003.11:g.53348712_53348718del, NC_000003.11:g.53348713_53348718del, NC_000003.11:g.53348714_53348718del, NC_000003.11:g.53348715_53348718del, NC_000003.11:g.53348716_53348718del, NC_000003.11:g.53348717_53348718del, NC_000003.11:g.53348718del, NC_000003.11:g.53348717_53348718dup, NC_000003.11:g.53348716_53348718dup, NC_000003.11:g.53348715_53348718dup, NC_000003.11:g.53348714_53348718dup, NC_000003.11:g.53348713_53348718dup, NC_000003.11:g.53348712_53348718dup, NC_000003.11:g.53348711_53348718dup, NC_000003.11:g.53348710_53348718dup, NC_000003.11:g.53348709_53348718dup, NC_000003.11:g.53348708_53348718dup, NC_000003.11:g.53348707_53348718dup, NC_000003.11:g.53348706_53348718dup, NC_000003.11:g.53348705_53348718dup, NC_000003.11:g.53348704_53348718dup, NC_000003.11:g.53348703_53348718dup, NC_000003.11:g.53348702_53348718dup, NC_000003.11:g.53348701_53348718dup, NC_000003.11:g.53348699_53348718dup, NC_000003.11:g.53348718_53348719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.53348718_53348719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            14.

                            rs1491138755 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->AC [Show Flanks]
                              Chromosome:
                              3:53326977 (GRCh38)
                              3:53361005 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:53326977:C:CAC
                              Gene:
                              DCP1A (Varview), LOC124909380 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CAC=0./0 (ALFA)
                              CA=0.00008/7 (GnomAD)
                              HGVS:
                              15.

                              rs1491127693 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                3:53315534 (GRCh38)
                                3:53349563 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:53315533:CA:
                                Gene:
                                DCP1A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00008/1 (ALFA)
                                HGVS:
                                16.

                                rs1491048437 has merged into rs11451581 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  3:53323872 (GRCh38)
                                  3:53357899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:53323861:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  DCP1A (Varview), LOC124909380 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAAA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  A=0.475/19 (GENOME_DK)
                                  HGVS:
                                  NC_000003.12:g.53323872_53323882del, NC_000003.12:g.53323877_53323882del, NC_000003.12:g.53323878_53323882del, NC_000003.12:g.53323879_53323882del, NC_000003.12:g.53323880_53323882del, NC_000003.12:g.53323881_53323882del, NC_000003.12:g.53323882del, NC_000003.12:g.53323882dup, NC_000003.12:g.53323881_53323882dup, NC_000003.12:g.53323880_53323882dup, NC_000003.12:g.53323879_53323882dup, NC_000003.12:g.53323878_53323882dup, NC_000003.12:g.53323876_53323882dup, NC_000003.12:g.53323875_53323882dup, NC_000003.11:g.53357899_53357909del, NC_000003.11:g.53357904_53357909del, NC_000003.11:g.53357905_53357909del, NC_000003.11:g.53357906_53357909del, NC_000003.11:g.53357907_53357909del, NC_000003.11:g.53357908_53357909del, NC_000003.11:g.53357909del, NC_000003.11:g.53357909dup, NC_000003.11:g.53357908_53357909dup, NC_000003.11:g.53357907_53357909dup, NC_000003.11:g.53357906_53357909dup, NC_000003.11:g.53357905_53357909dup, NC_000003.11:g.53357903_53357909dup, NC_000003.11:g.53357902_53357909dup, NW_004775426.1:g.172827_172837del, NW_004775426.1:g.172832_172837del, NW_004775426.1:g.172833_172837del, NW_004775426.1:g.172834_172837del, NW_004775426.1:g.172835_172837del, NW_004775426.1:g.172836_172837del, NW_004775426.1:g.172837del, NW_004775426.1:g.172837dup, NW_004775426.1:g.172836_172837dup, NW_004775426.1:g.172835_172837dup, NW_004775426.1:g.172834_172837dup, NW_004775426.1:g.172833_172837dup, NW_004775426.1:g.172831_172837dup, NW_004775426.1:g.172830_172837dup
                                  17.

                                  rs1490991472 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:53293798 (GRCh38)
                                    3:53327828 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:53293797:C:A
                                    Gene:
                                    DCP1A (Varview), LOC107986087 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490974501 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:53308333 (GRCh38)
                                      3:53342363 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:53308332:T:C
                                      Gene:
                                      DCP1A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490905140 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:53323793 (GRCh38)
                                        3:53357820 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:53323792:C:T
                                        Gene:
                                        DCP1A (Varview), LOC124909380 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000008/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490877503 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:53337151 (GRCh38)
                                          3:53371178 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:53337150:G:A
                                          Gene:
                                          DCP1A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000026/7 (TOPMED)
                                          HGVS:

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