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Items: 1 to 20 of 8495

1.

rs1491571331 has merged into rs370854107 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTGCCTTGAGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    5:454884 (GRCh38)
    5:454999 (GRCh37)
    Canonical SPDI:
    NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGCCTTGAGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:454868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    EXOC3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    TT=0.4473/2240 (1000Genomes)
    -=0.5/20 (GENOME_DK)
    HGVS:
    NC_000005.10:g.454884_454888del, NC_000005.10:g.454886_454888del, NC_000005.10:g.454887_454888del, NC_000005.10:g.454888del, NC_000005.10:g.454888dup, NC_000005.10:g.454887_454888dup, NC_000005.10:g.454886_454888dup, NC_000005.10:g.454869_454888T[23]GCCTTGAGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.454885_454888dup, NC_000005.10:g.454884_454888dup, NC_000005.10:g.454883_454888dup, NC_000005.10:g.454882_454888dup, NC_000005.10:g.454880_454888dup, NC_000005.10:g.454869_454888T[64]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.454999_455003del, NC_000005.9:g.455001_455003del, NC_000005.9:g.455002_455003del, NC_000005.9:g.455003del, NC_000005.9:g.455003dup, NC_000005.9:g.455002_455003dup, NC_000005.9:g.455001_455003dup, NC_000005.9:g.454984_455003T[23]GCCTTGAGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.455000_455003dup, NC_000005.9:g.454999_455003dup, NC_000005.9:g.454998_455003dup, NC_000005.9:g.454997_455003dup, NC_000005.9:g.454995_455003dup, NC_000005.9:g.454984_455003T[64]CTTTTTTTTTTTTTTTTTTTTTTTT[1]

    2.

    rs1491509816 has merged into rs35612609 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT [Show Flanks]
      Chromosome:
      5:459193 (GRCh38)
      5:459308 (GRCh37)
      Canonical SPDI:
      NC_000005.10:459180:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:459180:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:459180:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:459180:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
      Gene:
      EXOC3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0.0002/1 (ALFA)
      T=0.3696/1851 (1000Genomes)
      HGVS:

      3.

      rs1491486583 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        5:470135 (GRCh38)
        5:470250 (GRCh37)
        Canonical SPDI:
        NC_000005.10:470133:GTG:G
        Gene:
        SLC9A3 (Varview), PP7080 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:

        4.

        rs1491471214 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          5:454868 (GRCh38)
          5:454983 (GRCh37)
          Canonical SPDI:
          NC_000005.10:454867:AT:
          Gene:
          EXOC3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000015/1 (GnomAD)
          HGVS:

          5.

          rs1491309431 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            5:455388 (GRCh38)
            5:455504 (GRCh37)
            Canonical SPDI:
            NC_000005.10:455388:GGGG:GGGGG
            Gene:
            EXOC3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGG=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491279247 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              5:455388 (GRCh38)
              5:455503 (GRCh37)
              Canonical SPDI:
              NC_000005.10:455387:AG:
              Gene:
              EXOC3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000035/1 (TOMMO)
              HGVS:

              7.

              rs1491202054 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>C [Show Flanks]
                Chromosome:
                5:459181 (GRCh38)
                5:459296 (GRCh37)
                Canonical SPDI:
                NC_000005.10:459180:TT:C
                Gene:
                EXOC3 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:

                8.

                rs1491093944 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  5:470134 (GRCh38)
                  5:470250 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:470134:T:TT
                  Gene:
                  SLC9A3 (Varview), PP7080 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491073587 has merged into rs34225129 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TT>-,T,TTT,TTTT [Show Flanks]
                    Chromosome:
                    5:450802 (GRCh38)
                    5:450917 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:450790:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:450790:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:450790:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:450790:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                    Gene:
                    EXOC3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTTT=0./0 (ALFA)
                    T=0.073917/19565 (TOPMED)
                    T=0.2/8 (GENOME_DK)
                    HGVS:

                    10.

                    rs1490991141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:457032 (GRCh38)
                      5:457147 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:457031:C:T
                      Gene:
                      EXOC3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490932103 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        5:464032 (GRCh38)
                        5:464147 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:464031:G:C
                        Gene:
                        EXOC3 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1490861342 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:455889 (GRCh38)
                          5:456004 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:455888:C:T
                          Gene:
                          EXOC3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490796832 has merged into rs11274307 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG>-,GCG,GCGGCG,GCGGCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG [Show Flanks]
                            Chromosome:
                            5:443234 (GRCh38)
                            5:443349 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,NC_000005.10:443229:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
                            Gene:
                            EXOC3 (Varview), EXOC3-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGCGGCG=0./0 (ALFA)
                            HGVS:
                            NC_000005.10:g.443231GCG[1], NC_000005.10:g.443231GCG[2], NC_000005.10:g.443231GCG[3], NC_000005.10:g.443231GCG[4], NC_000005.10:g.443231GCG[5], NC_000005.10:g.443231GCG[6], NC_000005.10:g.443231GCG[7], NC_000005.10:g.443231GCG[8], NC_000005.10:g.443231GCG[9], NC_000005.10:g.443231GCG[10], NC_000005.10:g.443231GCG[11], NC_000005.10:g.443231GCG[12], NC_000005.10:g.443231GCG[13], NC_000005.10:g.443231GCG[14], NC_000005.10:g.443231GCG[15], NC_000005.10:g.443231GCG[17], NC_000005.10:g.443231GCG[18], NC_000005.10:g.443231GCG[19], NC_000005.10:g.443231GCG[20], NC_000005.10:g.443231GCG[21], NC_000005.10:g.443231GCG[22], NC_000005.10:g.443231GCG[23], NC_000005.10:g.443231GCG[24], NC_000005.10:g.443231GCG[25], NC_000005.10:g.443231GCG[26], NC_000005.10:g.443231GCG[27], NC_000005.10:g.443231GCG[28], NC_000005.10:g.443231GCG[29], NC_000005.10:g.443231GCG[30], NC_000005.10:g.443231GCG[31], NC_000005.10:g.443231GCG[32], NC_000005.10:g.443231GCG[33], NC_000005.9:g.443346GCG[1], NC_000005.9:g.443346GCG[2], NC_000005.9:g.443346GCG[3], NC_000005.9:g.443346GCG[4], NC_000005.9:g.443346GCG[5], NC_000005.9:g.443346GCG[6], NC_000005.9:g.443346GCG[7], NC_000005.9:g.443346GCG[8], NC_000005.9:g.443346GCG[9], NC_000005.9:g.443346GCG[10], NC_000005.9:g.443346GCG[11], NC_000005.9:g.443346GCG[12], NC_000005.9:g.443346GCG[13], NC_000005.9:g.443346GCG[14], NC_000005.9:g.443346GCG[15], NC_000005.9:g.443346GCG[17], NC_000005.9:g.443346GCG[18], NC_000005.9:g.443346GCG[19], NC_000005.9:g.443346GCG[20], NC_000005.9:g.443346GCG[21], NC_000005.9:g.443346GCG[22], NC_000005.9:g.443346GCG[23], NC_000005.9:g.443346GCG[24], NC_000005.9:g.443346GCG[25], NC_000005.9:g.443346GCG[26], NC_000005.9:g.443346GCG[27], NC_000005.9:g.443346GCG[28], NC_000005.9:g.443346GCG[29], NC_000005.9:g.443346GCG[30], NC_000005.9:g.443346GCG[31], NC_000005.9:g.443346GCG[32], NC_000005.9:g.443346GCG[33], NM_007277.5:c.-116GCG[1], NM_007277.5:c.-116GCG[2], NM_007277.5:c.-116GCG[3], NM_007277.5:c.-116GCG[4], NM_007277.5:c.-116GCG[5], NM_007277.5:c.-116GCG[6], NM_007277.5:c.-116GCG[7], NM_007277.5:c.-116GCG[8], NM_007277.5:c.-116GCG[9], NM_007277.5:c.-116GCG[10], NM_007277.5:c.-116GCG[11], NM_007277.5:c.-116GCG[12], NM_007277.5:c.-116GCG[13], NM_007277.5:c.-116GCG[14], NM_007277.5:c.-116GCG[15], NM_007277.5:c.-116GCG[17], NM_007277.5:c.-116GCG[18], NM_007277.5:c.-116GCG[19], NM_007277.5:c.-116GCG[20], NM_007277.5:c.-116GCG[21], NM_007277.5:c.-116GCG[22], NM_007277.5:c.-116GCG[23], NM_007277.5:c.-116GCG[24], NM_007277.5:c.-116GCG[25], NM_007277.5:c.-116GCG[26], NM_007277.5:c.-116GCG[27], NM_007277.5:c.-116GCG[28], NM_007277.5:c.-116GCG[29], NM_007277.5:c.-116GCG[30], NM_007277.5:c.-116GCG[31], NM_007277.5:c.-116GCG[32], NM_007277.5:c.-116GCG[33], NM_007277.4:c.-116GCG[1], NM_007277.4:c.-116GCG[2], NM_007277.4:c.-116GCG[3], NM_007277.4:c.-116GCG[4], NM_007277.4:c.-116GCG[5], NM_007277.4:c.-116GCG[6], NM_007277.4:c.-116GCG[7], NM_007277.4:c.-116GCG[8], NM_007277.4:c.-116GCG[9], NM_007277.4:c.-116GCG[10], NM_007277.4:c.-116GCG[11], NM_007277.4:c.-116GCG[12], NM_007277.4:c.-116GCG[13], NM_007277.4:c.-116GCG[14], NM_007277.4:c.-116GCG[15], NM_007277.4:c.-116GCG[17], NM_007277.4:c.-116GCG[18], NM_007277.4:c.-116GCG[19], NM_007277.4:c.-116GCG[20], NM_007277.4:c.-116GCG[21], NM_007277.4:c.-116GCG[22], NM_007277.4:c.-116GCG[23], NM_007277.4:c.-116GCG[24], NM_007277.4:c.-116GCG[25], NM_007277.4:c.-116GCG[26], NM_007277.4:c.-116GCG[27], NM_007277.4:c.-116GCG[28], NM_007277.4:c.-116GCG[29], NM_007277.4:c.-116GCG[30], NM_007277.4:c.-116GCG[31], NM_007277.4:c.-116GCG[32], NM_007277.4:c.-116GCG[33], XM_047416683.1:c.-116GCG[1], XM_047416683.1:c.-116GCG[2], XM_047416683.1:c.-116GCG[3], XM_047416683.1:c.-116GCG[4], XM_047416683.1:c.-116GCG[5], XM_047416683.1:c.-116GCG[6], XM_047416683.1:c.-116GCG[7], XM_047416683.1:c.-116GCG[8], XM_047416683.1:c.-116GCG[9], XM_047416683.1:c.-116GCG[10], XM_047416683.1:c.-116GCG[11], XM_047416683.1:c.-116GCG[12], XM_047416683.1:c.-116GCG[13], XM_047416683.1:c.-116GCG[14], XM_047416683.1:c.-116GCG[15], XM_047416683.1:c.-116GCG[17], XM_047416683.1:c.-116GCG[18], XM_047416683.1:c.-116GCG[19], XM_047416683.1:c.-116GCG[20], XM_047416683.1:c.-116GCG[21], XM_047416683.1:c.-116GCG[22], XM_047416683.1:c.-116GCG[23], XM_047416683.1:c.-116GCG[24], XM_047416683.1:c.-116GCG[25], XM_047416683.1:c.-116GCG[26], XM_047416683.1:c.-116GCG[27], XM_047416683.1:c.-116GCG[28], XM_047416683.1:c.-116GCG[29], XM_047416683.1:c.-116GCG[30], XM_047416683.1:c.-116GCG[31], XM_047416683.1:c.-116GCG[32], XM_047416683.1:c.-116GCG[33]

                            14.

                            rs1490790321 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TTTTTTTG>- [Show Flanks]
                              Chromosome:
                              5:441523 (GRCh38)
                              5:441638 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:441522:TTTTTTTG:
                              Gene:
                              EXOC3 (Varview), EXOC3-AS1 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.00077/19 (TOMMO)
                              HGVS:

                              15.

                              rs1490559834 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                CAGCGAAGGCGGAGGGGGCGGCGG>-
                                Chromosome:
                                no mapping
                                Canonical SPDI:

                                16.

                                rs1490243315 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  5:469510 (GRCh38)
                                  5:469625 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:469509:A:C,NC_000005.10:469509:A:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.000008/1 (GnomAD)
                                  G=0.017112/50 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1490236022 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:441636 (GRCh38)
                                    5:441751 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:441635:C:T
                                    Gene:
                                    EXOC3 (Varview), EXOC3-AS1 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490214655 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:448888 (GRCh38)
                                      5:449003 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:448887:A:G
                                      Gene:
                                      EXOC3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490114429 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        5:456727 (GRCh38)
                                        5:456842 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:456726:G:A,NC_000005.10:456726:G:C
                                        Gene:
                                        EXOC3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489916799 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CAC>- [Show Flanks]
                                          Chromosome:
                                          5:454470 (GRCh38)
                                          5:454585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:454467:ACCAC:AC
                                          Gene:
                                          EXOC3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AC=0./0 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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