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Items: 1 to 20 of 1000

1.

rs1491091091 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    11:18603952 (GRCh38)
    11:18625499 (GRCh37)
    Canonical SPDI:
    NC_000011.10:18603949:AGAG:AG
    Gene:
    SPTY2D1OS (Varview)
    Functional Consequence:
    downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AGAG=0.00008/1 (ALFA)
    -=0.00002/1 (GnomAD)
    HGVS:
    2.

    rs1491078213 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      11:18605259 (GRCh38)
      11:18626806 (GRCh37)
      Canonical SPDI:
      NC_000011.10:18605255:AGAGA:AGA
      Gene:
      SPTY2D1OS (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      AGA=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491059471 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->AG [Show Flanks]
        Chromosome:
        11:18605256 (GRCh38)
        11:18626804 (GRCh37)
        Canonical SPDI:
        NC_000011.10:18605256::AG
        Gene:
        SPTY2D1OS (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        AG=0./0 (ALFA)
        AG=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490964715 has merged into rs761246126 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          11:18603930 (GRCh38)
          11:18625477 (GRCh37)
          Canonical SPDI:
          NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:18603917:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SPTY2D1OS (Varview)
          Functional Consequence:
          intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          -=0./0 (ALSPAC)
          -=0./0 (TWINSUK)
          HGVS:
          NC_000011.10:g.18603930_18603944del, NC_000011.10:g.18603931_18603944del, NC_000011.10:g.18603932_18603944del, NC_000011.10:g.18603933_18603944del, NC_000011.10:g.18603934_18603944del, NC_000011.10:g.18603935_18603944del, NC_000011.10:g.18603936_18603944del, NC_000011.10:g.18603937_18603944del, NC_000011.10:g.18603938_18603944del, NC_000011.10:g.18603939_18603944del, NC_000011.10:g.18603940_18603944del, NC_000011.10:g.18603941_18603944del, NC_000011.10:g.18603942_18603944del, NC_000011.10:g.18603943_18603944del, NC_000011.10:g.18603944del, NC_000011.10:g.18603944dup, NC_000011.10:g.18603943_18603944dup, NC_000011.10:g.18603942_18603944dup, NC_000011.10:g.18603941_18603944dup, NC_000011.10:g.18603940_18603944dup, NC_000011.10:g.18603939_18603944dup, NC_000011.10:g.18603938_18603944dup, NC_000011.10:g.18603937_18603944dup, NC_000011.10:g.18603935_18603944dup, NC_000011.9:g.18625477_18625491del, NC_000011.9:g.18625478_18625491del, NC_000011.9:g.18625479_18625491del, NC_000011.9:g.18625480_18625491del, NC_000011.9:g.18625481_18625491del, NC_000011.9:g.18625482_18625491del, NC_000011.9:g.18625483_18625491del, NC_000011.9:g.18625484_18625491del, NC_000011.9:g.18625485_18625491del, NC_000011.9:g.18625486_18625491del, NC_000011.9:g.18625487_18625491del, NC_000011.9:g.18625488_18625491del, NC_000011.9:g.18625489_18625491del, NC_000011.9:g.18625490_18625491del, NC_000011.9:g.18625491del, NC_000011.9:g.18625491dup, NC_000011.9:g.18625490_18625491dup, NC_000011.9:g.18625489_18625491dup, NC_000011.9:g.18625488_18625491dup, NC_000011.9:g.18625487_18625491dup, NC_000011.9:g.18625486_18625491dup, NC_000011.9:g.18625485_18625491dup, NC_000011.9:g.18625484_18625491dup, NC_000011.9:g.18625482_18625491dup
          5.

          rs1490824676 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            11:18607724 (GRCh38)
            11:18629271 (GRCh37)
            Canonical SPDI:
            NC_000011.10:18607723:A:T
            Gene:
            SPTY2D1 (Varview), SPTY2D1OS (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490808843 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              11:18610649 (GRCh38)
              11:18632196 (GRCh37)
              Canonical SPDI:
              NC_000011.10:18610648:G:C
              Gene:
              SPTY2D1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000009/1 (GnomAD)
              C=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1490730674 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:18610313 (GRCh38)
                11:18631860 (GRCh37)
                Canonical SPDI:
                NC_000011.10:18610312:G:A
                Gene:
                SPTY2D1 (Varview), SPTY2D1OS (Varview)
                Functional Consequence:
                downstream_transcript_variant,intron_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490628537 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  11:18604612 (GRCh38)
                  11:18626159 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:18604609:AGAG:AG
                  Gene:
                  SPTY2D1OS (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AGAG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000022/3 (GnomAD)
                  -=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1490615646 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:18606847 (GRCh38)
                    11:18628394 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:18606846:G:A
                    Gene:
                    SPTY2D1 (Varview), SPTY2D1OS (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490145717 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      11:18604131 (GRCh38)
                      11:18625678 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:18604130:T:A,NC_000011.10:18604130:T:C
                      Gene:
                      SPTY2D1OS (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489654182 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        11:18601624 (GRCh38)
                        11:18623171 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:18601623:G:A,NC_000011.10:18601623:G:C
                        Gene:
                        SPTY2D1OS (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489508323 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          11:18602709 (GRCh38)
                          11:18624256 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:18602708:A:G,NC_000011.10:18602708:A:T
                          Gene:
                          SPTY2D1OS (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00099/15 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000342/1 (KOREAN)
                          T=0.003348/15 (Estonian)
                          HGVS:
                          13.

                          rs1489368671 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            11:18605577 (GRCh38)
                            11:18627125 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:18605577:T:TT
                            Gene:
                            SPTY2D1OS (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TT=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489157250 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              11:18601301 (GRCh38)
                              11:18622848 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:18601300:G:C
                              Gene:
                              SPTY2D1OS (Varview), LOC112268073 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489127606 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:18600437 (GRCh38)
                                11:18621984 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:18600436:A:G
                                Gene:
                                SPTY2D1OS (Varview), LOC112268073 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488727838 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:18608806 (GRCh38)
                                  11:18630353 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:18608805:T:C
                                  Gene:
                                  SPTY2D1 (Varview), SPTY2D1OS (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488625425 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    11:18607701 (GRCh38)
                                    11:18629248 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:18607700:A:C
                                    Gene:
                                    SPTY2D1 (Varview), SPTY2D1OS (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488598123 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:18600422 (GRCh38)
                                      11:18621969 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:18600421:C:G
                                      Gene:
                                      SPTY2D1OS (Varview), LOC112268073 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487874497 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:18601136 (GRCh38)
                                        11:18622683 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:18601135:C:A
                                        Gene:
                                        SPTY2D1OS (Varview), LOC112268073 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487677656 has merged into rs35434256 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          11:18598422 (GRCh38)
                                          11:18619969 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:18598411:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          SPTY2D1OS (Varview), LOC112268073 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          HGVS:
                                          NC_000011.10:g.18598422_18598437del, NC_000011.10:g.18598423_18598437del, NC_000011.10:g.18598424_18598437del, NC_000011.10:g.18598427_18598437del, NC_000011.10:g.18598428_18598437del, NC_000011.10:g.18598429_18598437del, NC_000011.10:g.18598430_18598437del, NC_000011.10:g.18598431_18598437del, NC_000011.10:g.18598432_18598437del, NC_000011.10:g.18598433_18598437del, NC_000011.10:g.18598434_18598437del, NC_000011.10:g.18598435_18598437del, NC_000011.10:g.18598436_18598437del, NC_000011.10:g.18598437del, NC_000011.10:g.18598437dup, NC_000011.10:g.18598436_18598437dup, NC_000011.10:g.18598435_18598437dup, NC_000011.10:g.18598434_18598437dup, NC_000011.10:g.18598433_18598437dup, NC_000011.10:g.18598432_18598437dup, NC_000011.10:g.18598429_18598437dup, NC_000011.10:g.18598428_18598437dup, NC_000011.10:g.18598427_18598437dup, NC_000011.10:g.18598424_18598437dup, NC_000011.10:g.18598437_18598438insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.18598437_18598438insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.18598412_18598437A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.18619969_18619984del, NC_000011.9:g.18619970_18619984del, NC_000011.9:g.18619971_18619984del, NC_000011.9:g.18619974_18619984del, NC_000011.9:g.18619975_18619984del, NC_000011.9:g.18619976_18619984del, NC_000011.9:g.18619977_18619984del, NC_000011.9:g.18619978_18619984del, NC_000011.9:g.18619979_18619984del, NC_000011.9:g.18619980_18619984del, NC_000011.9:g.18619981_18619984del, NC_000011.9:g.18619982_18619984del, NC_000011.9:g.18619983_18619984del, NC_000011.9:g.18619984del, NC_000011.9:g.18619984dup, NC_000011.9:g.18619983_18619984dup, NC_000011.9:g.18619982_18619984dup, NC_000011.9:g.18619981_18619984dup, NC_000011.9:g.18619980_18619984dup, NC_000011.9:g.18619979_18619984dup, NC_000011.9:g.18619976_18619984dup, NC_000011.9:g.18619975_18619984dup, NC_000011.9:g.18619974_18619984dup, NC_000011.9:g.18619971_18619984dup, NC_000011.9:g.18619984_18619985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.18619984_18619985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.18619959_18619984A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

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