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Items: 1 to 20 of 23125

1.

rs1491583068 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GCGC>-,GC,GCGCGC,GCGCGCGC [Show Flanks]
    Chromosome:
    22:44327238 (GRCh38)
    22:44723118 (GRCh37)
    Canonical SPDI:
    NC_000022.11:44327235:GCGCGC:GC,NC_000022.11:44327235:GCGCGC:GCGC,NC_000022.11:44327235:GCGCGC:GCGCGCGC,NC_000022.11:44327235:GCGCGC:GCGCGCGCGC
    Gene:
    SHISAL1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GC=0./0 (ALFA)
    -=0.00004/1 (TOMMO)
    HGVS:

    2.

    rs1491547355 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      22:44289496 (GRCh38)
      22:44685376 (GRCh37)
      Canonical SPDI:
      NC_000022.11:44289494:TTT:T
      Gene:
      SHISAL1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      -=0.000036/5 (GnomAD)
      -=0.000064/17 (TOPMED)
      HGVS:

      3.

      rs1491542372 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GG,GGTAGG [Show Flanks]
        Chromosome:
        22:44266529 (GRCh38)
        22:44662410 (GRCh37)
        Canonical SPDI:
        NC_000022.11:44266529:G:GGG,NC_000022.11:44266529:G:GGGTAGG
        Gene:
        SHISAL1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGG=0./0 (ALFA)
        GG=0.00246/4 (Korea1K)
        GG=0.00821/109 (TOMMO)
        HGVS:

        4.

        rs1491525380 has merged into rs922017518 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          22:44263087 (GRCh38)
          22:44658967 (GRCh37)
          Canonical SPDI:
          NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:44263079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SHISAL1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000022.11:g.44263087_44263099del, NC_000022.11:g.44263088_44263099del, NC_000022.11:g.44263090_44263099del, NC_000022.11:g.44263091_44263099del, NC_000022.11:g.44263092_44263099del, NC_000022.11:g.44263093_44263099del, NC_000022.11:g.44263094_44263099del, NC_000022.11:g.44263095_44263099del, NC_000022.11:g.44263096_44263099del, NC_000022.11:g.44263097_44263099del, NC_000022.11:g.44263098_44263099del, NC_000022.11:g.44263099del, NC_000022.11:g.44263099dup, NC_000022.11:g.44263098_44263099dup, NC_000022.11:g.44263097_44263099dup, NC_000022.11:g.44263096_44263099dup, NC_000022.11:g.44263095_44263099dup, NC_000022.11:g.44263094_44263099dup, NC_000022.11:g.44263093_44263099dup, NC_000022.11:g.44263092_44263099dup, NC_000022.11:g.44263091_44263099dup, NC_000022.11:g.44263089_44263099dup, NC_000022.10:g.44658967_44658979del, NC_000022.10:g.44658968_44658979del, NC_000022.10:g.44658970_44658979del, NC_000022.10:g.44658971_44658979del, NC_000022.10:g.44658972_44658979del, NC_000022.10:g.44658973_44658979del, NC_000022.10:g.44658974_44658979del, NC_000022.10:g.44658975_44658979del, NC_000022.10:g.44658976_44658979del, NC_000022.10:g.44658977_44658979del, NC_000022.10:g.44658978_44658979del, NC_000022.10:g.44658979del, NC_000022.10:g.44658979dup, NC_000022.10:g.44658978_44658979dup, NC_000022.10:g.44658977_44658979dup, NC_000022.10:g.44658976_44658979dup, NC_000022.10:g.44658975_44658979dup, NC_000022.10:g.44658974_44658979dup, NC_000022.10:g.44658973_44658979dup, NC_000022.10:g.44658972_44658979dup, NC_000022.10:g.44658971_44658979dup, NC_000022.10:g.44658969_44658979dup

          5.

          rs1491501955 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            22:44302339 (GRCh38)
            22:44698219 (GRCh37)
            Canonical SPDI:
            NC_000022.11:44302338:CA:
            Gene:
            SHISAL1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.03633/431 (ALFA)
            -=0.00135/63 (GnomAD)
            -=0.01068/301 (TOMMO)
            HGVS:

            6.

            rs1491492793 has merged into rs879356618 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
              Chromosome:
              22:44269486 (GRCh38)
              22:44665366 (GRCh37)
              Canonical SPDI:
              NC_000022.11:44269474:CACACACACACACACACAC:CACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000022.11:44269474:CACACACACACACACACAC:CACACACACACACACACACACACAC
              Gene:
              SHISAL1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACACACACAC=0./0 (ALFA)
              -=0.00167/1 (NorthernSweden)
              HGVS:

              7.

              rs1491466041 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CA [Show Flanks]
                Chromosome:
                22:44261078 (GRCh38)
                22:44656959 (GRCh37)
                Canonical SPDI:
                NC_000022.11:44261078:A:ACA
                Gene:
                SHISAL1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                ACA=0./0 (ALFA)
                AC=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1491402816 has merged into rs56290835 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TATATATATATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATGTATATATATATATATATATATATATATA [Show Flanks]
                  Chromosome:
                  22:44261088 (GRCh38)
                  22:44656968 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000022.11:44261077:TATATATATATATATATATATA:TATATATATATATATATATATATATATATATATGTATATATATATATATATATATATATATA
                  Gene:
                  SHISAL1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATATATA=0./0 (ALFA)
                  TA=0.225/9 (GENOME_DK)
                  TA=0.3724/1865 (1000Genomes)
                  HGVS:
                  NC_000022.11:g.44261078TA[5], NC_000022.11:g.44261078TA[6], NC_000022.11:g.44261078TA[8], NC_000022.11:g.44261078TA[9], NC_000022.11:g.44261078TA[10], NC_000022.11:g.44261078TA[12], NC_000022.11:g.44261078TA[13], NC_000022.11:g.44261078TA[14], NC_000022.11:g.44261078TA[15], NC_000022.11:g.44261078TA[16], NC_000022.11:g.44261078TA[17], NC_000022.11:g.44261078TA[18], NC_000022.11:g.44261078TA[19], NC_000022.11:g.44261078TA[20], NC_000022.11:g.44261078TA[21], NC_000022.11:g.44261078TA[22], NC_000022.11:g.44261078TA[23], NC_000022.11:g.44261078TA[24], NC_000022.11:g.44261078TA[25], NC_000022.11:g.44261078TA[26], NC_000022.11:g.44261078TA[27], NC_000022.11:g.44261078TA[28], NC_000022.11:g.44261078TA[29], NC_000022.11:g.44261078TA[30], NC_000022.11:g.44261078TA[31], NC_000022.11:g.44261078TA[32], NC_000022.11:g.44261078TA[33], NC_000022.11:g.44261078TA[34], NC_000022.11:g.44261078_44261099TA[16]TGTATATATATATATATATATATATATATA[1], NC_000022.10:g.44656958TA[5], NC_000022.10:g.44656958TA[6], NC_000022.10:g.44656958TA[8], NC_000022.10:g.44656958TA[9], NC_000022.10:g.44656958TA[10], NC_000022.10:g.44656958TA[12], NC_000022.10:g.44656958TA[13], NC_000022.10:g.44656958TA[14], NC_000022.10:g.44656958TA[15], NC_000022.10:g.44656958TA[16], NC_000022.10:g.44656958TA[17], NC_000022.10:g.44656958TA[18], NC_000022.10:g.44656958TA[19], NC_000022.10:g.44656958TA[20], NC_000022.10:g.44656958TA[21], NC_000022.10:g.44656958TA[22], NC_000022.10:g.44656958TA[23], NC_000022.10:g.44656958TA[24], NC_000022.10:g.44656958TA[25], NC_000022.10:g.44656958TA[26], NC_000022.10:g.44656958TA[27], NC_000022.10:g.44656958TA[28], NC_000022.10:g.44656958TA[29], NC_000022.10:g.44656958TA[30], NC_000022.10:g.44656958TA[31], NC_000022.10:g.44656958TA[32], NC_000022.10:g.44656958TA[33], NC_000022.10:g.44656958TA[34], NC_000022.10:g.44656958_44656979TA[16]TGTATATATATATATATATATATATATATA[1]

                  9.

                  rs1491401272 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->CG,CGCG [Show Flanks]
                    Chromosome:
                    22:44327233 (GRCh38)
                    22:44723114 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:44327233:G:GCG,NC_000022.11:44327233:G:GCGCG
                    Gene:
                    SHISAL1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GCGCG=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491369173 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GA>- [Show Flanks]
                      Chromosome:
                      22:44259487 (GRCh38)
                      22:44655367 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:44259485:AGA:A
                      Gene:
                      SHISAL1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      -=0.000093/13 (GnomAD)
                      HGVS:

                      11.

                      rs1491346490 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        22:44245859 (GRCh38)
                        22:44641739 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:44245858:AT:
                        Gene:
                        SHISAL1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000049/13 (TOPMED)
                        -=0.00005/7 (GnomAD)
                        HGVS:

                        12.

                        rs1491297165 has merged into rs11473448 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          22:44266544 (GRCh38)
                          22:44662424 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:44266528:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Gene:
                          SHISAL1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGTGTGT=0./0 (ALFA)
                          HGVS:
                          NC_000022.11:g.44266530GT[7], NC_000022.11:g.44266530GT[8], NC_000022.11:g.44266530GT[9], NC_000022.11:g.44266530GT[10], NC_000022.11:g.44266530GT[11], NC_000022.11:g.44266530GT[12], NC_000022.11:g.44266530GT[13], NC_000022.11:g.44266530GT[14], NC_000022.11:g.44266530GT[16], NC_000022.11:g.44266530GT[17], NC_000022.11:g.44266530GT[18], NC_000022.11:g.44266530GT[19], NC_000022.11:g.44266530GT[20], NC_000022.11:g.44266530GT[21], NC_000022.11:g.44266530GT[22], NC_000022.11:g.44266530GT[23], NC_000022.11:g.44266530GT[24], NC_000022.11:g.44266530GT[25], NC_000022.11:g.44266530GT[26], NC_000022.11:g.44266530GT[27], NC_000022.11:g.44266530GT[28], NC_000022.11:g.44266530GT[29], NC_000022.11:g.44266530GT[30], NC_000022.11:g.44266530GT[31], NC_000022.10:g.44662410GT[7], NC_000022.10:g.44662410GT[8], NC_000022.10:g.44662410GT[9], NC_000022.10:g.44662410GT[10], NC_000022.10:g.44662410GT[11], NC_000022.10:g.44662410GT[12], NC_000022.10:g.44662410GT[13], NC_000022.10:g.44662410GT[14], NC_000022.10:g.44662410GT[16], NC_000022.10:g.44662410GT[17], NC_000022.10:g.44662410GT[18], NC_000022.10:g.44662410GT[19], NC_000022.10:g.44662410GT[20], NC_000022.10:g.44662410GT[21], NC_000022.10:g.44662410GT[22], NC_000022.10:g.44662410GT[23], NC_000022.10:g.44662410GT[24], NC_000022.10:g.44662410GT[25], NC_000022.10:g.44662410GT[26], NC_000022.10:g.44662410GT[27], NC_000022.10:g.44662410GT[28], NC_000022.10:g.44662410GT[29], NC_000022.10:g.44662410GT[30], NC_000022.10:g.44662410GT[31]

                          13.

                          rs1491273142 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->ATTT [Show Flanks]
                            Chromosome:
                            22:44253595 (GRCh38)
                            22:44649476 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:44253595:ATTT:ATTTATTT
                            Gene:
                            SHISAL1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            ATTT=0.000008/1 (GnomAD)
                            HGVS:

                            14.

                            rs1491269173 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->TTCT [Show Flanks]
                              Chromosome:
                              22:44245859 (GRCh38)
                              22:44641740 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:44245859:TCTTTCT:TCTTTCTTTCT
                              Gene:
                              SHISAL1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCTTTCTTTCT=0./0 (ALFA)
                              TCTT=0.000004/1 (TOPMED)
                              TCTT=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1491254793 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AC [Show Flanks]
                                Chromosome:
                                22:44327236 (GRCh38)
                                22:44723117 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:44327236:C:CAC
                                Gene:
                                SHISAL1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAC=0./0 (ALFA)
                                CA=0.000233/1 (Estonian)
                                CA=0.000255/27 (GnomAD)
                                HGVS:

                                16.

                                rs1491243176 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GATG [Show Flanks]
                                  Chromosome:
                                  22:44266527 (GRCh38)
                                  22:44662408 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:44266527:ATG:ATGGATG
                                  Gene:
                                  SHISAL1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  ATGGATG=0./0 (ALFA)
                                  ATGG=0.000035/4 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491212276 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TG>- [Show Flanks]
                                    Chromosome:
                                    22:44255619 (GRCh38)
                                    22:44651499 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:44255618:TG:
                                    Gene:
                                    SHISAL1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.00005/7 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491197188 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AT>- [Show Flanks]
                                      Chromosome:
                                      22:44266528 (GRCh38)
                                      22:44662408 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:44266526:TAT:T
                                      Gene:
                                      SHISAL1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000169/2 (ALFA)
                                      -=0.010672/1242 (GnomAD)
                                      -=0.014366/92 (1000Genomes)
                                      -=0.016031/262 (TOMMO)
                                      -=0.020197/37 (Korea1K)
                                      HGVS:

                                      19.

                                      rs1491178490 has merged into rs58825139 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        22:44253427 (GRCh38)
                                        22:44649307 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:44253425:TGT:T
                                        Gene:
                                        SHISAL1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.07343/871 (ALFA)
                                        -=0.01287/212 (TOMMO)
                                        -=0.08888/8841 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491163711 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          AA>-
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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