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Items: 1 to 20 of 13158

1.

rs1491572151 has merged into rs759964791 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    22:31640586 (GRCh38)
    22:32036572 (GRCh37)
    Canonical SPDI:
    NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31640575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    PISD (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000022.11:g.31640586_31640598del, NC_000022.11:g.31640587_31640598del, NC_000022.11:g.31640588_31640598del, NC_000022.11:g.31640589_31640598del, NC_000022.11:g.31640590_31640598del, NC_000022.11:g.31640591_31640598del, NC_000022.11:g.31640592_31640598del, NC_000022.11:g.31640593_31640598del, NC_000022.11:g.31640594_31640598del, NC_000022.11:g.31640595_31640598del, NC_000022.11:g.31640596_31640598del, NC_000022.11:g.31640597_31640598del, NC_000022.11:g.31640598del, NC_000022.11:g.31640598dup, NC_000022.11:g.31640597_31640598dup, NC_000022.11:g.31640596_31640598dup, NC_000022.11:g.31640595_31640598dup, NC_000022.11:g.31640594_31640598dup, NC_000022.11:g.31640593_31640598dup, NC_000022.11:g.31640592_31640598dup, NC_000022.11:g.31640591_31640598dup, NC_000022.11:g.31640590_31640598dup, NC_000022.11:g.31640589_31640598dup, NC_000022.11:g.31640588_31640598dup, NC_000022.11:g.31640587_31640598dup, NC_000022.11:g.31640584_31640598dup, NC_000022.11:g.31640581_31640598dup, NC_000022.11:g.31640598_31640599insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.31640598_31640599insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32036572_32036584del, NC_000022.10:g.32036573_32036584del, NC_000022.10:g.32036574_32036584del, NC_000022.10:g.32036575_32036584del, NC_000022.10:g.32036576_32036584del, NC_000022.10:g.32036577_32036584del, NC_000022.10:g.32036578_32036584del, NC_000022.10:g.32036579_32036584del, NC_000022.10:g.32036580_32036584del, NC_000022.10:g.32036581_32036584del, NC_000022.10:g.32036582_32036584del, NC_000022.10:g.32036583_32036584del, NC_000022.10:g.32036584del, NC_000022.10:g.32036584dup, NC_000022.10:g.32036583_32036584dup, NC_000022.10:g.32036582_32036584dup, NC_000022.10:g.32036581_32036584dup, NC_000022.10:g.32036580_32036584dup, NC_000022.10:g.32036579_32036584dup, NC_000022.10:g.32036578_32036584dup, NC_000022.10:g.32036577_32036584dup, NC_000022.10:g.32036576_32036584dup, NC_000022.10:g.32036575_32036584dup, NC_000022.10:g.32036574_32036584dup, NC_000022.10:g.32036573_32036584dup, NC_000022.10:g.32036570_32036584dup, NC_000022.10:g.32036567_32036584dup, NC_000022.10:g.32036584_32036585insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32036584_32036585insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050741.1:g.26977_26989del, NG_050741.1:g.26978_26989del, NG_050741.1:g.26979_26989del, NG_050741.1:g.26980_26989del, NG_050741.1:g.26981_26989del, NG_050741.1:g.26982_26989del, NG_050741.1:g.26983_26989del, NG_050741.1:g.26984_26989del, NG_050741.1:g.26985_26989del, NG_050741.1:g.26986_26989del, NG_050741.1:g.26987_26989del, NG_050741.1:g.26988_26989del, NG_050741.1:g.26989del, NG_050741.1:g.26989dup, NG_050741.1:g.26988_26989dup, NG_050741.1:g.26987_26989dup, NG_050741.1:g.26986_26989dup, NG_050741.1:g.26985_26989dup, NG_050741.1:g.26984_26989dup, NG_050741.1:g.26983_26989dup, NG_050741.1:g.26982_26989dup, NG_050741.1:g.26981_26989dup, NG_050741.1:g.26980_26989dup, NG_050741.1:g.26979_26989dup, NG_050741.1:g.26978_26989dup, NG_050741.1:g.26975_26989dup, NG_050741.1:g.26972_26989dup, NG_050741.1:g.26989_26990insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050741.1:g.26989_26990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491547739 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      22:31640904 (GRCh38)
      22:32036890 (GRCh37)
      Canonical SPDI:
      NC_000022.11:31640903:TG:
      Gene:
      PISD (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000009/1 (GnomAD)
      HGVS:
      3.

      rs1491462103 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTTTT [Show Flanks]
        Chromosome:
        22:31666744 (GRCh38)
        22:32062731 (GRCh37)
        Canonical SPDI:
        NC_000022.11:31666744:TTTT:TTTTCTTTT
        Validated:
        by frequency,by alfa
        MAF:
        TTTTCTTTT=0./0 (ALFA)
        HGVS:
        4.

        rs1491449376 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          22:31634834 (GRCh38)
          22:32030820 (GRCh37)
          Canonical SPDI:
          NC_000022.11:31634833:CA:
          Gene:
          PISD (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491393566 has merged into rs66885164 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
            Chromosome:
            22:31663013 (GRCh38)
            22:32058999 (GRCh37)
            Canonical SPDI:
            NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:31663001:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
            Gene:
            PISD (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            T=0.1278/474 (TWINSUK)
            T=0.1334/514 (ALSPAC)
            HGVS:
            6.

            rs1491388414 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CG>- [Show Flanks]
              Chromosome:
              22:31624756 (GRCh38)
              22:32020742 (GRCh37)
              Canonical SPDI:
              NC_000022.11:31624755:CG:
              Gene:
              PISD (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.009439/35 (TWINSUK)
              -=0.012455/48 (ALSPAC)
              HGVS:
              8.

              rs1491297371 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                22:31640574 (GRCh38)
                22:32036561 (GRCh37)
                Canonical SPDI:
                NC_000022.11:31640574:G:GG
                Gene:
                PISD (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                GG=0./0 (ALFA)
                HGVS:
                9.

                rs1491255030 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CT [Show Flanks]
                  Chromosome:
                  22:31663002 (GRCh38)
                  22:32058989 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:31663002:T:TCT
                  Gene:
                  PISD (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TCT=0./0 (ALFA)
                  TC=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1491192003 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    22:31655316 (GRCh38)
                    22:32051302 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:31655315:CT:
                    Gene:
                    PISD (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000015/2 (GnomAD)
                    HGVS:
                    11.

                    rs1491183738 has merged into rs113975217 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      22:31666752 (GRCh38)
                      22:32062738 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:31666743:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000022.11:g.31666752_31666764del, NC_000022.11:g.31666753_31666764del, NC_000022.11:g.31666754_31666764del, NC_000022.11:g.31666755_31666764del, NC_000022.11:g.31666756_31666764del, NC_000022.11:g.31666757_31666764del, NC_000022.11:g.31666758_31666764del, NC_000022.11:g.31666759_31666764del, NC_000022.11:g.31666760_31666764del, NC_000022.11:g.31666761_31666764del, NC_000022.11:g.31666762_31666764del, NC_000022.11:g.31666763_31666764del, NC_000022.11:g.31666764del, NC_000022.11:g.31666764dup, NC_000022.11:g.31666763_31666764dup, NC_000022.11:g.31666762_31666764dup, NC_000022.11:g.31666761_31666764dup, NC_000022.11:g.31666760_31666764dup, NC_000022.11:g.31666759_31666764dup, NC_000022.11:g.31666758_31666764dup, NC_000022.11:g.31666757_31666764dup, NC_000022.11:g.31666756_31666764dup, NC_000022.11:g.31666755_31666764dup, NC_000022.11:g.31666754_31666764dup, NC_000022.11:g.31666753_31666764dup, NC_000022.11:g.31666752_31666764dup, NC_000022.11:g.31666751_31666764dup, NC_000022.11:g.31666750_31666764dup, NC_000022.11:g.31666749_31666764dup, NC_000022.11:g.31666747_31666764dup, NC_000022.11:g.31666746_31666764dup, NC_000022.11:g.31666745_31666764dup, NC_000022.11:g.31666744_31666764dup, NC_000022.11:g.31666764_31666765insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.31666764_31666765insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.31666764_31666765insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32062738_32062750del, NC_000022.10:g.32062739_32062750del, NC_000022.10:g.32062740_32062750del, NC_000022.10:g.32062741_32062750del, NC_000022.10:g.32062742_32062750del, NC_000022.10:g.32062743_32062750del, NC_000022.10:g.32062744_32062750del, NC_000022.10:g.32062745_32062750del, NC_000022.10:g.32062746_32062750del, NC_000022.10:g.32062747_32062750del, NC_000022.10:g.32062748_32062750del, NC_000022.10:g.32062749_32062750del, NC_000022.10:g.32062750del, NC_000022.10:g.32062750dup, NC_000022.10:g.32062749_32062750dup, NC_000022.10:g.32062748_32062750dup, NC_000022.10:g.32062747_32062750dup, NC_000022.10:g.32062746_32062750dup, NC_000022.10:g.32062745_32062750dup, NC_000022.10:g.32062744_32062750dup, NC_000022.10:g.32062743_32062750dup, NC_000022.10:g.32062742_32062750dup, NC_000022.10:g.32062741_32062750dup, NC_000022.10:g.32062740_32062750dup, NC_000022.10:g.32062739_32062750dup, NC_000022.10:g.32062738_32062750dup, NC_000022.10:g.32062737_32062750dup, NC_000022.10:g.32062736_32062750dup, NC_000022.10:g.32062735_32062750dup, NC_000022.10:g.32062733_32062750dup, NC_000022.10:g.32062732_32062750dup, NC_000022.10:g.32062731_32062750dup, NC_000022.10:g.32062730_32062750dup, NC_000022.10:g.32062750_32062751insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32062750_32062751insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32062750_32062751insTTTTTTTTTTTTTTTTTTTTTTTT, NG_050741.1:g.809_821del, NG_050741.1:g.810_821del, NG_050741.1:g.811_821del, NG_050741.1:g.812_821del, NG_050741.1:g.813_821del, NG_050741.1:g.814_821del, NG_050741.1:g.815_821del, NG_050741.1:g.816_821del, NG_050741.1:g.817_821del, NG_050741.1:g.818_821del, NG_050741.1:g.819_821del, NG_050741.1:g.820_821del, NG_050741.1:g.821del, NG_050741.1:g.821dup, NG_050741.1:g.820_821dup, NG_050741.1:g.819_821dup, NG_050741.1:g.818_821dup, NG_050741.1:g.817_821dup, NG_050741.1:g.816_821dup, NG_050741.1:g.815_821dup, NG_050741.1:g.814_821dup, NG_050741.1:g.813_821dup, NG_050741.1:g.812_821dup, NG_050741.1:g.811_821dup, NG_050741.1:g.810_821dup, NG_050741.1:g.809_821dup, NG_050741.1:g.808_821dup, NG_050741.1:g.807_821dup, NG_050741.1:g.806_821dup, NG_050741.1:g.804_821dup, NG_050741.1:g.803_821dup, NG_050741.1:g.802_821dup, NG_050741.1:g.801_821dup, NG_050741.1:g.821_822insAAAAAAAAAAAAAAAAAAAAAA, NG_050741.1:g.821_822insAAAAAAAAAAAAAAAAAAAAAAA, NG_050741.1:g.821_822insAAAAAAAAAAAAAAAAAAAAAAAA
                      12.

                      rs1491127150 has merged into rs33999998 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        22:31634843 (GRCh38)
                        22:32030829 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:31634834:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        PISD (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000022.11:g.31634843_31634855del, NC_000022.11:g.31634844_31634855del, NC_000022.11:g.31634845_31634855del, NC_000022.11:g.31634846_31634855del, NC_000022.11:g.31634847_31634855del, NC_000022.11:g.31634848_31634855del, NC_000022.11:g.31634849_31634855del, NC_000022.11:g.31634850_31634855del, NC_000022.11:g.31634851_31634855del, NC_000022.11:g.31634852_31634855del, NC_000022.11:g.31634853_31634855del, NC_000022.11:g.31634854_31634855del, NC_000022.11:g.31634855del, NC_000022.11:g.31634855dup, NC_000022.11:g.31634854_31634855dup, NC_000022.11:g.31634853_31634855dup, NC_000022.11:g.31634852_31634855dup, NC_000022.11:g.31634850_31634855dup, NC_000022.11:g.31634849_31634855dup, NC_000022.11:g.31634843_31634855dup, NC_000022.11:g.31634835_31634855A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.32030829_32030841del, NC_000022.10:g.32030830_32030841del, NC_000022.10:g.32030831_32030841del, NC_000022.10:g.32030832_32030841del, NC_000022.10:g.32030833_32030841del, NC_000022.10:g.32030834_32030841del, NC_000022.10:g.32030835_32030841del, NC_000022.10:g.32030836_32030841del, NC_000022.10:g.32030837_32030841del, NC_000022.10:g.32030838_32030841del, NC_000022.10:g.32030839_32030841del, NC_000022.10:g.32030840_32030841del, NC_000022.10:g.32030841del, NC_000022.10:g.32030841dup, NC_000022.10:g.32030840_32030841dup, NC_000022.10:g.32030839_32030841dup, NC_000022.10:g.32030838_32030841dup, NC_000022.10:g.32030836_32030841dup, NC_000022.10:g.32030835_32030841dup, NC_000022.10:g.32030829_32030841dup, NC_000022.10:g.32030821_32030841A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_050741.1:g.32718_32730del, NG_050741.1:g.32719_32730del, NG_050741.1:g.32720_32730del, NG_050741.1:g.32721_32730del, NG_050741.1:g.32722_32730del, NG_050741.1:g.32723_32730del, NG_050741.1:g.32724_32730del, NG_050741.1:g.32725_32730del, NG_050741.1:g.32726_32730del, NG_050741.1:g.32727_32730del, NG_050741.1:g.32728_32730del, NG_050741.1:g.32729_32730del, NG_050741.1:g.32730del, NG_050741.1:g.32730dup, NG_050741.1:g.32729_32730dup, NG_050741.1:g.32728_32730dup, NG_050741.1:g.32727_32730dup, NG_050741.1:g.32725_32730dup, NG_050741.1:g.32724_32730dup, NG_050741.1:g.32718_32730dup, NG_050741.1:g.32710_32730T[45]CTTTTTTTTTTTTTTTTTTTTTTTT[1]
                        13.

                        rs1491090017 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          GT>-
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          14.

                          rs1491060112 has merged into rs370054504 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
                            Chromosome:
                            22:31652153 (GRCh38)
                            22:32048139 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:31652139:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000022.11:31652139:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000022.11:31652139:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000022.11:31652139:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
                            Gene:
                            PISD (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TGTGTGTGTGTGTGT=0./0 (ALFA)
                            TG=0.00779/130 (TOMMO)
                            TG=0.02315/5 (Vietnamese)
                            TG=0.05/2 (GENOME_DK)
                            TG=0.06049/271 (Estonian)
                            TG=0.06167/37 (NorthernSweden)
                            TG=0.07105/356 (1000Genomes)
                            HGVS:
                            15.

                            rs1491015031 has merged into rs144624624 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AG>-,AGAG [Show Flanks]
                              Chromosome:
                              22:31629383 (GRCh38)
                              22:32025369 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:31629381:GAG:G,NC_000022.11:31629381:GAG:GAGAG
                              Gene:
                              PISD (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GAGAG=0./0 (ALFA)
                              GA=0.15931/614 (ALSPAC)
                              GA=0.16232/162 (GoNL)
                              GA=0.16424/609 (TWINSUK)
                              GA=0.16833/101 (NorthernSweden)
                              GA=0.1889/946 (1000Genomes)
                              GA=0.25443/4261 (TOMMO)
                              GA=0.29967/549 (Korea1K)
                              HGVS:
                              16.

                              rs1491009420 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                22:31653058 (GRCh38)
                                22:32049045 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:31653058::C
                                Gene:
                                PISD (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000084/1 (ALFA)
                                C=0.000116/16 (GnomAD)
                                HGVS:
                                17.

                                rs1490989159 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTAGGATGGTACACGCTTATATTCCCAG>- [Show Flanks]
                                  Chromosome:
                                  22:31645263 (GRCh38)
                                  22:32041249 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:31645258:CCAGGTAGGATGGTACACGCTTATATTCCCAG:CCAG
                                  Gene:
                                  PISD (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCAG=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490946414 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    22:31666792 (GRCh38)
                                    22:32062778 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:31666791:G:C
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490898296 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:31620020 (GRCh38)
                                      22:32016006 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:31620019:C:T
                                      Gene:
                                      PISD (Varview)
                                      Functional Consequence:
                                      intron_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.

                                      rs1490787139 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:31644910 (GRCh38)
                                        22:32040896 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:31644909:G:A
                                        Gene:
                                        PISD (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:

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