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Items: 1 to 20 of 1000

1.

rs1491582164 has merged into rs35404098 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:6442877 (GRCh38)
    1:6502937 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ESPN (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.375/15 (GENOME_DK)
    HGVS:
    NC_000001.11:g.6442877_6442888del, NC_000001.11:g.6442882_6442888del, NC_000001.11:g.6442883_6442888del, NC_000001.11:g.6442884_6442888del, NC_000001.11:g.6442885_6442888del, NC_000001.11:g.6442886_6442888del, NC_000001.11:g.6442887_6442888del, NC_000001.11:g.6442888del, NC_000001.11:g.6442888dup, NC_000001.11:g.6442887_6442888dup, NC_000001.11:g.6442886_6442888dup, NC_000001.11:g.6442885_6442888dup, NC_000001.11:g.6442883_6442888dup, NC_000001.10:g.6502937_6502948del, NC_000001.10:g.6502942_6502948del, NC_000001.10:g.6502943_6502948del, NC_000001.10:g.6502944_6502948del, NC_000001.10:g.6502945_6502948del, NC_000001.10:g.6502946_6502948del, NC_000001.10:g.6502947_6502948del, NC_000001.10:g.6502948del, NC_000001.10:g.6502948dup, NC_000001.10:g.6502947_6502948dup, NC_000001.10:g.6502946_6502948dup, NC_000001.10:g.6502945_6502948dup, NC_000001.10:g.6502943_6502948dup, NG_015866.1:g.23090_23101del, NG_015866.1:g.23095_23101del, NG_015866.1:g.23096_23101del, NG_015866.1:g.23097_23101del, NG_015866.1:g.23098_23101del, NG_015866.1:g.23099_23101del, NG_015866.1:g.23100_23101del, NG_015866.1:g.23101del, NG_015866.1:g.23101dup, NG_015866.1:g.23100_23101dup, NG_015866.1:g.23099_23101dup, NG_015866.1:g.23098_23101dup, NG_015866.1:g.23096_23101dup

    2.

    rs1491571077 has merged into rs896238206 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACA>-,CA,CACACA [Show Flanks]
      Chromosome:
      1:6445110 (GRCh38)
      1:6505170 (GRCh37)
      Canonical SPDI:
      NC_000001.11:6445099:CACACACACACACA:CACACACACA,NC_000001.11:6445099:CACACACACACACA:CACACACACACA,NC_000001.11:6445099:CACACACACACACA:CACACACACACACACA
      Gene:
      ESPN (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACACACACACA=0./0 (ALFA)
      -=0.00004/1 (TOMMO)
      CA=0.00943/2 (Vietnamese)
      -=0.00983/18 (Korea1K)
      HGVS:

      3.

      rs1491415981 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        1:6431629 (GRCh38)
        1:6491690 (GRCh37)
        Canonical SPDI:
        NC_000001.11:6431629::C
        Gene:
        ESPN (Varview), MIR4252 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.00004/1 (TOMMO)
        HGVS:

        4.

        rs1491408114 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GC>- [Show Flanks]
          Chromosome:
          1:6430326 (GRCh38)
          1:6490386 (GRCh37)
          Canonical SPDI:
          NC_000001.11:6430325:GC:
          Gene:
          ESPN (Varview), MIR4252 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1491261191 has merged into rs760363517 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:6431640 (GRCh38)
            1:6491700 (GRCh37)
            Canonical SPDI:
            NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            ESPN (Varview), MIR4252 (Varview)
            Functional Consequence:
            2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.6431640_6431653del, NC_000001.11:g.6431641_6431653del, NC_000001.11:g.6431642_6431653del, NC_000001.11:g.6431643_6431653del, NC_000001.11:g.6431644_6431653del, NC_000001.11:g.6431645_6431653del, NC_000001.11:g.6431646_6431653del, NC_000001.11:g.6431647_6431653del, NC_000001.11:g.6431648_6431653del, NC_000001.11:g.6431649_6431653del, NC_000001.11:g.6431650_6431653del, NC_000001.11:g.6431651_6431653del, NC_000001.11:g.6431652_6431653del, NC_000001.11:g.6431653del, NC_000001.11:g.6431653dup, NC_000001.11:g.6431652_6431653dup, NC_000001.11:g.6431651_6431653dup, NC_000001.11:g.6431650_6431653dup, NC_000001.11:g.6431649_6431653dup, NC_000001.11:g.6431648_6431653dup, NC_000001.11:g.6431645_6431653dup, NC_000001.11:g.6431643_6431653dup, NC_000001.11:g.6431642_6431653dup, NC_000001.11:g.6431630_6431653dup, NC_000001.11:g.6431629_6431653dup, NC_000001.10:g.6491700_6491713del, NC_000001.10:g.6491701_6491713del, NC_000001.10:g.6491702_6491713del, NC_000001.10:g.6491703_6491713del, NC_000001.10:g.6491704_6491713del, NC_000001.10:g.6491705_6491713del, NC_000001.10:g.6491706_6491713del, NC_000001.10:g.6491707_6491713del, NC_000001.10:g.6491708_6491713del, NC_000001.10:g.6491709_6491713del, NC_000001.10:g.6491710_6491713del, NC_000001.10:g.6491711_6491713del, NC_000001.10:g.6491712_6491713del, NC_000001.10:g.6491713del, NC_000001.10:g.6491713dup, NC_000001.10:g.6491712_6491713dup, NC_000001.10:g.6491711_6491713dup, NC_000001.10:g.6491710_6491713dup, NC_000001.10:g.6491709_6491713dup, NC_000001.10:g.6491708_6491713dup, NC_000001.10:g.6491705_6491713dup, NC_000001.10:g.6491703_6491713dup, NC_000001.10:g.6491702_6491713dup, NC_000001.10:g.6491690_6491713dup, NC_000001.10:g.6491689_6491713dup, NG_015866.1:g.11853_11866del, NG_015866.1:g.11854_11866del, NG_015866.1:g.11855_11866del, NG_015866.1:g.11856_11866del, NG_015866.1:g.11857_11866del, NG_015866.1:g.11858_11866del, NG_015866.1:g.11859_11866del, NG_015866.1:g.11860_11866del, NG_015866.1:g.11861_11866del, NG_015866.1:g.11862_11866del, NG_015866.1:g.11863_11866del, NG_015866.1:g.11864_11866del, NG_015866.1:g.11865_11866del, NG_015866.1:g.11866del, NG_015866.1:g.11866dup, NG_015866.1:g.11865_11866dup, NG_015866.1:g.11864_11866dup, NG_015866.1:g.11863_11866dup, NG_015866.1:g.11862_11866dup, NG_015866.1:g.11861_11866dup, NG_015866.1:g.11858_11866dup, NG_015866.1:g.11856_11866dup, NG_015866.1:g.11855_11866dup, NG_015866.1:g.11843_11866dup, NG_015866.1:g.11842_11866dup

            6.

            rs1491159151 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C,G [Show Flanks]
              Chromosome:
              1:6443187 (GRCh38)
              1:6503248 (GRCh37)
              Canonical SPDI:
              NC_000001.11:6443187::C,NC_000001.11:6443187::G
              Gene:
              ESPN (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.00004/1 (TOMMO)
              HGVS:

              7.

              rs1491114036 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                1:6442867 (GRCh38)
                1:6502927 (GRCh37)
                Canonical SPDI:
                NC_000001.11:6442866:CA:
                Gene:
                ESPN (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:

                8.

                rs1490967054 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:6430971 (GRCh38)
                  1:6491031 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:6430970:G:A,NC_000001.11:6430970:G:T
                  Gene:
                  ESPN (Varview), MIR4252 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490951186 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:6431859 (GRCh38)
                    1:6491919 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:6431858:A:G
                    Gene:
                    ESPN (Varview), MIR4252 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490838446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:6457802 (GRCh38)
                      1:6517862 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:6457801:A:G
                      Gene:
                      ESPN (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000021/3 (GnomAD)
                      G=0.000023/6 (TOPMED)
                      HGVS:

                      11.

                      rs1490829599 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:6430035 (GRCh38)
                        1:6490095 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:6430034:G:A
                        Gene:
                        ESPN (Varview), MIR4252 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490741688 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          1:6451587 (GRCh38)
                          1:6511647 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:6451586:T:G
                          Gene:
                          ESPN (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490694049 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            1:6458790 (GRCh38)
                            1:6518850 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:6458789:T:C,NC_000001.11:6458789:T:G
                            Gene:
                            ESPN (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490675674 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:6457343 (GRCh38)
                              1:6517403 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:6457342:G:A
                              Gene:
                              ESPN (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490437165 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:6445485 (GRCh38)
                                1:6505545 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:6445484:C:G
                                Gene:
                                ESPN (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0./0 (KOREAN)
                                G=0.000007/1 (GnomAD)
                                G=0.000212/4 (TOMMO)
                                HGVS:

                                16.

                                rs1490420248 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,T [Show Flanks]
                                  Chromosome:
                                  1:6424640 (GRCh38)
                                  1:6484700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:6424639:A:C,NC_000001.11:6424639:A:T
                                  Gene:
                                  ESPN (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  C=0.000035/1 (TOMMO)
                                  T=0.000044/6 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490288945 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    1:6451006 (GRCh38)
                                    1:6511066 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:6451005:G:
                                    Gene:
                                    ESPN (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490265040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:6448728 (GRCh38)
                                      1:6508788 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:6448727:G:A,NC_000001.11:6448727:G:T
                                      Gene:
                                      ESPN (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.6448728G>A, NC_000001.11:g.6448728G>T, NC_000001.10:g.6508788G>A, NC_000001.10:g.6508788G>T, NG_015866.1:g.28941G>A, NG_015866.1:g.28941G>T, NM_031475.3:c.1552G>A, NM_031475.3:c.1552G>T, NM_031475.2:c.1552G>A, NM_031475.2:c.1552G>T, NM_001367474.1:c.1552G>A, NM_001367474.1:c.1552G>T, NM_001367473.1:c.1552G>A, NM_001367473.1:c.1552G>T, XM_011542238.4:c.*74G>A, XM_011542238.4:c.*74G>T, XM_011542238.3:c.*74G>A, XM_011542238.3:c.*74G>T, XM_011542238.2:c.*74G>A, XM_011542238.2:c.*74G>T, XM_011542238.1:c.*74G>A, XM_011542238.1:c.*74G>T, XM_011542233.3:c.934G>A, XM_011542233.3:c.934G>T, XM_011542233.2:c.1156G>A, XM_011542233.2:c.1156G>T, XM_011542233.1:c.1156G>A, XM_011542233.1:c.1156G>T, XM_017002433.2:c.1552G>A, XM_017002433.2:c.1552G>T, XM_017002433.1:c.1552G>A, XM_017002433.1:c.1552G>T, XM_011542231.1:c.1552G>A, XM_011542231.1:c.1552G>T, XM_011542232.1:c.1552G>A, XM_011542232.1:c.1552G>T, XM_047431542.1:c.-57G>A, XM_047431542.1:c.-57G>T, XM_047431551.1:c.-57G>A, XM_047431551.1:c.-57G>T, XM_047431549.1:c.-57G>A, XM_047431549.1:c.-57G>T, NP_113663.2:p.Asp518Asn, NP_113663.2:p.Asp518Tyr, NP_001354403.1:p.Asp518Asn, NP_001354403.1:p.Asp518Tyr, NP_001354402.1:p.Asp518Asn, NP_001354402.1:p.Asp518Tyr, XP_011540535.2:p.Asp312Asn, XP_011540535.2:p.Asp312Tyr, XP_016857922.1:p.Asp518Asn, XP_016857922.1:p.Asp518Tyr, XP_011540533.1:p.Asp518Asn, XP_011540533.1:p.Asp518Tyr, XP_011540534.1:p.Asp518Asn, XP_011540534.1:p.Asp518Tyr

                                      19.

                                      rs1490258789 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:6424181 (GRCh38)
                                        1:6484241 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:6424180:C:T
                                        Gene:
                                        ESPN (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490245302 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:6437547 (GRCh38)
                                          1:6497607 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:6437546:G:A
                                          Gene:
                                          ESPN (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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