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Items: 1 to 20 of 10152

1.

rs1491561549 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TAAAAAAAAAAAAAAAAAAAAAA
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491553733 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      14:70564736 (GRCh38)
      14:71031453 (GRCh37)
      Canonical SPDI:
      NC_000014.9:70564735:AT:
      Gene:
      ADAM20 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      -=0.000008/1 (GnomAD)
      HGVS:

      3.

      rs1491539987 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        14:70564764 (GRCh38)
        14:71031481 (GRCh37)
        Canonical SPDI:
        NC_000014.9:70564763:TA:
        Gene:
        ADAM20 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000027/3 (GnomAD)
        HGVS:

        4.

        rs1491425764 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          14:70557751 (GRCh38)
          14:71024468 (GRCh37)
          Canonical SPDI:
          NC_000014.9:70557750:AT:
          Gene:
          ADAM20 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.00004/1 (TOMMO)
          HGVS:

          5.

          rs1491425527 has merged into rs57636164 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            14:70522260 (GRCh38)
            14:70988977 (GRCh37)
            Canonical SPDI:
            NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70522248:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            ADAM20 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000014.9:g.70522260_70522267del, NC_000014.9:g.70522261_70522267del, NC_000014.9:g.70522262_70522267del, NC_000014.9:g.70522263_70522267del, NC_000014.9:g.70522264_70522267del, NC_000014.9:g.70522265_70522267del, NC_000014.9:g.70522266_70522267del, NC_000014.9:g.70522267del, NC_000014.9:g.70522267dup, NC_000014.9:g.70522266_70522267dup, NC_000014.9:g.70522265_70522267dup, NC_000014.9:g.70522264_70522267dup, NC_000014.9:g.70522263_70522267dup, NC_000014.9:g.70522259_70522267dup, NC_000014.8:g.70988977_70988984del, NC_000014.8:g.70988978_70988984del, NC_000014.8:g.70988979_70988984del, NC_000014.8:g.70988980_70988984del, NC_000014.8:g.70988981_70988984del, NC_000014.8:g.70988982_70988984del, NC_000014.8:g.70988983_70988984del, NC_000014.8:g.70988984del, NC_000014.8:g.70988984dup, NC_000014.8:g.70988983_70988984dup, NC_000014.8:g.70988982_70988984dup, NC_000014.8:g.70988981_70988984dup, NC_000014.8:g.70988980_70988984dup, NC_000014.8:g.70988976_70988984dup

            6.

            rs1491372097 has merged into rs3080273 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              14:70564745 (GRCh38)
              14:71031462 (GRCh37)
              Canonical SPDI:
              NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:70564736:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              ADAM20 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              T=0.325/13 (GENOME_DK)
              HGVS:
              NC_000014.9:g.70564745_70564764del, NC_000014.9:g.70564748_70564764del, NC_000014.9:g.70564749_70564764del, NC_000014.9:g.70564751_70564764del, NC_000014.9:g.70564752_70564764del, NC_000014.9:g.70564753_70564764del, NC_000014.9:g.70564754_70564764del, NC_000014.9:g.70564755_70564764del, NC_000014.9:g.70564756_70564764del, NC_000014.9:g.70564757_70564764del, NC_000014.9:g.70564758_70564764del, NC_000014.9:g.70564759_70564764del, NC_000014.9:g.70564760_70564764del, NC_000014.9:g.70564761_70564764del, NC_000014.9:g.70564762_70564764del, NC_000014.9:g.70564763_70564764del, NC_000014.9:g.70564764del, NC_000014.9:g.70564764dup, NC_000014.9:g.70564763_70564764dup, NC_000014.9:g.70564762_70564764dup, NC_000014.9:g.70564761_70564764dup, NC_000014.8:g.71031462_71031481del, NC_000014.8:g.71031465_71031481del, NC_000014.8:g.71031466_71031481del, NC_000014.8:g.71031468_71031481del, NC_000014.8:g.71031469_71031481del, NC_000014.8:g.71031470_71031481del, NC_000014.8:g.71031471_71031481del, NC_000014.8:g.71031472_71031481del, NC_000014.8:g.71031473_71031481del, NC_000014.8:g.71031474_71031481del, NC_000014.8:g.71031475_71031481del, NC_000014.8:g.71031476_71031481del, NC_000014.8:g.71031477_71031481del, NC_000014.8:g.71031478_71031481del, NC_000014.8:g.71031479_71031481del, NC_000014.8:g.71031480_71031481del, NC_000014.8:g.71031481del, NC_000014.8:g.71031481dup, NC_000014.8:g.71031480_71031481dup, NC_000014.8:g.71031479_71031481dup, NC_000014.8:g.71031478_71031481dup, XM_005268151.4:c.-9155_-9136del, XM_005268151.4:c.-9152_-9136del, XM_005268151.4:c.-9151_-9136del, XM_005268151.4:c.-9149_-9136del, XM_005268151.4:c.-9148_-9136del, XM_005268151.4:c.-9147_-9136del, XM_005268151.4:c.-9146_-9136del, XM_005268151.4:c.-9145_-9136del, XM_005268151.4:c.-9144_-9136del, XM_005268151.4:c.-9143_-9136del, XM_005268151.4:c.-9142_-9136del, XM_005268151.4:c.-9141_-9136del, XM_005268151.4:c.-9140_-9136del, XM_005268151.4:c.-9139_-9136del, XM_005268151.4:c.-9138_-9136del, XM_005268151.4:c.-9137_-9136del, XM_005268151.4:c.-9136del, XM_005268151.4:c.-9136dup, XM_005268151.4:c.-9137_-9136dup, XM_005268151.4:c.-9138_-9136dup, XM_005268151.4:c.-9139_-9136dup, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9137_-9136dup, XM_005268151.3:c.-9140_-9136dup, XM_005268151.3:c.-9141_-9136dup, XM_005268151.3:c.-9136_-9135insAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005268151.3:c.-9136_-9135insAAAAAAAAAAAAAAAAAAAAAAAAAA

              7.

              rs1491329192 has merged into rs577264085 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                14:70536959 (GRCh38)
                14:71003676 (GRCh37)
                Canonical SPDI:
                NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70536944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                ADAM20 (Varview), LOC105370556 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                HGVS:

                8.

                rs1491245800 has merged into rs60331759 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  14:70553539 (GRCh38)
                  14:71020256 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70553525:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  ADAM20 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  NC_000014.9:g.70553539_70553548del, NC_000014.9:g.70553541_70553548del, NC_000014.9:g.70553543_70553548del, NC_000014.9:g.70553544_70553548del, NC_000014.9:g.70553545_70553548del, NC_000014.9:g.70553546_70553548del, NC_000014.9:g.70553547_70553548del, NC_000014.9:g.70553548del, NC_000014.9:g.70553548dup, NC_000014.9:g.70553547_70553548dup, NC_000014.9:g.70553546_70553548dup, NC_000014.9:g.70553545_70553548dup, NC_000014.9:g.70553544_70553548dup, NC_000014.9:g.70553543_70553548dup, NC_000014.9:g.70553542_70553548dup, NC_000014.9:g.70553541_70553548dup, NC_000014.9:g.70553540_70553548dup, NC_000014.9:g.70553539_70553548dup, NC_000014.9:g.70553537_70553548dup, NC_000014.9:g.70553535_70553548dup, NC_000014.9:g.70553526_70553548A[31]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.70553526_70553548A[28]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.70553526_70553548AAAAAAAAAAAAAAAAAAAAAAAAC[2]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.71020256_71020265del, NC_000014.8:g.71020258_71020265del, NC_000014.8:g.71020260_71020265del, NC_000014.8:g.71020261_71020265del, NC_000014.8:g.71020262_71020265del, NC_000014.8:g.71020263_71020265del, NC_000014.8:g.71020264_71020265del, NC_000014.8:g.71020265del, NC_000014.8:g.71020265dup, NC_000014.8:g.71020264_71020265dup, NC_000014.8:g.71020263_71020265dup, NC_000014.8:g.71020262_71020265dup, NC_000014.8:g.71020261_71020265dup, NC_000014.8:g.71020260_71020265dup, NC_000014.8:g.71020259_71020265dup, NC_000014.8:g.71020258_71020265dup, NC_000014.8:g.71020257_71020265dup, NC_000014.8:g.71020256_71020265dup, NC_000014.8:g.71020254_71020265dup, NC_000014.8:g.71020252_71020265dup, NC_000014.8:g.71020243_71020265A[31]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.71020243_71020265A[28]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.71020243_71020265AAAAAAAAAAAAAAAAAAAAAAAAC[2]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]

                  9.

                  rs1491193403 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    14:70564764 (GRCh38)
                    14:71031482 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:70564764:A:AA
                    Gene:
                    ADAM20 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1491175354 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      14:70536944 (GRCh38)
                      14:71003661 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:70536943:CA:
                      Gene:
                      ADAM20 (Varview), LOC105370556 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1490993383 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        14:70557956 (GRCh38)
                        14:71024673 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:70557955:C:
                        Gene:
                        ADAM20 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1490883740 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          14:70540314 (GRCh38)
                          14:71007031 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:70540313:T:A
                          Gene:
                          ADAM20 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490862079 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:70522404 (GRCh38)
                            14:70989121 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:70522403:A:G
                            Gene:
                            ADAM20 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490703393 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:70561404 (GRCh38)
                              14:71028121 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:70561403:T:C
                              Gene:
                              ADAM20 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:

                              15.

                              rs1490655937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                14:70533802 (GRCh38)
                                14:71000519 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:70533801:G:C
                                Gene:
                                ADAM20 (Varview), LOC105370556 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490655200 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:70526073 (GRCh38)
                                  14:70992790 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:70526072:T:C
                                  Gene:
                                  ADAM20 (Varview), LOC105370556 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490451757 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    14:70556651 (GRCh38)
                                    14:71023368 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:70556650:T:A
                                    Gene:
                                    ADAM20 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490392521 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      14:70539949 (GRCh38)
                                      14:71006666 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:70539948:G:T
                                      Gene:
                                      ADAM20 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490246809 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        14:70564041 (GRCh38)
                                        14:71030758 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:70564040:G:A,NC_000014.9:70564040:G:C
                                        Gene:
                                        ADAM20 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000026/7 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490216889 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          14:70562592 (GRCh38)
                                          14:71029309 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:70562591:G:A,NC_000014.9:70562591:G:C
                                          Gene:
                                          ADAM20 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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