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Items: 1 to 20 of 1000

1.

rs1491553988 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    1:45638430 (GRCh38)
    1:46104103 (GRCh37)
    Canonical SPDI:
    NC_000001.11:45638430:A:AA
    Gene:
    GPBP1L1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1491516949 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>G [Show Flanks]
      Chromosome:
      1:45669624 (GRCh38)
      1:46135296 (GRCh37)
      Canonical SPDI:
      NC_000001.11:45669623:CT:G
      Gene:
      GPBP1L1 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:

      3.

      rs1491497903 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        1:45628007 (GRCh38)
        1:46093680 (GRCh37)
        Canonical SPDI:
        NC_000001.11:45628007:G:GG
        Gene:
        GPBP1L1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0./0 (ALFA)
        G=0.000058/8 (GnomAD)
        G=0.000064/17 (TOPMED)
        HGVS:

        4.

        rs1491475818 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          1:45677341 (GRCh38)
          1:46143013 (GRCh37)
          Canonical SPDI:
          NC_000001.11:45677340:GA:
          Gene:
          GPBP1L1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000019/2 (GnomAD)
          HGVS:

          5.

          rs1491467168 has merged into rs764606358 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:45683216 (GRCh38)
            1:46148888 (GRCh37)
            Canonical SPDI:
            NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45683203:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            GPBP1L1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.000049/13 (TOPMED)
            HGVS:
            NC_000001.11:g.45683216_45683231del, NC_000001.11:g.45683217_45683231del, NC_000001.11:g.45683218_45683231del, NC_000001.11:g.45683219_45683231del, NC_000001.11:g.45683220_45683231del, NC_000001.11:g.45683221_45683231del, NC_000001.11:g.45683222_45683231del, NC_000001.11:g.45683223_45683231del, NC_000001.11:g.45683224_45683231del, NC_000001.11:g.45683225_45683231del, NC_000001.11:g.45683226_45683231del, NC_000001.11:g.45683227_45683231del, NC_000001.11:g.45683228_45683231del, NC_000001.11:g.45683229_45683231del, NC_000001.11:g.45683230_45683231del, NC_000001.11:g.45683231del, NC_000001.11:g.45683231dup, NC_000001.11:g.45683230_45683231dup, NC_000001.11:g.45683229_45683231dup, NC_000001.11:g.45683228_45683231dup, NC_000001.11:g.45683227_45683231dup, NC_000001.11:g.45683226_45683231dup, NC_000001.11:g.45683225_45683231dup, NC_000001.11:g.45683223_45683231dup, NC_000001.11:g.45683221_45683231dup, NC_000001.11:g.45683231_45683232insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.46148888_46148903del, NC_000001.10:g.46148889_46148903del, NC_000001.10:g.46148890_46148903del, NC_000001.10:g.46148891_46148903del, NC_000001.10:g.46148892_46148903del, NC_000001.10:g.46148893_46148903del, NC_000001.10:g.46148894_46148903del, NC_000001.10:g.46148895_46148903del, NC_000001.10:g.46148896_46148903del, NC_000001.10:g.46148897_46148903del, NC_000001.10:g.46148898_46148903del, NC_000001.10:g.46148899_46148903del, NC_000001.10:g.46148900_46148903del, NC_000001.10:g.46148901_46148903del, NC_000001.10:g.46148902_46148903del, NC_000001.10:g.46148903del, NC_000001.10:g.46148903dup, NC_000001.10:g.46148902_46148903dup, NC_000001.10:g.46148901_46148903dup, NC_000001.10:g.46148900_46148903dup, NC_000001.10:g.46148899_46148903dup, NC_000001.10:g.46148898_46148903dup, NC_000001.10:g.46148897_46148903dup, NC_000001.10:g.46148895_46148903dup, NC_000001.10:g.46148893_46148903dup, NC_000001.10:g.46148903_46148904insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491393376 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              1:45684258 (GRCh38)
              1:46149930 (GRCh37)
              Canonical SPDI:
              NC_000001.11:45684257:CA:
              Gene:
              GPBP1L1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00017/2 (ALFA)
              -=0.00167/40 (TOMMO)
              HGVS:

              7.

              rs1491385616 has merged into rs60435928 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                1:45639584 (GRCh38)
                1:46105256 (GRCh37)
                Canonical SPDI:
                NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45639574:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                GPBP1L1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                HGVS:

                8.

                rs1491329475 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  1:45683204 (GRCh38)
                  1:46148877 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:45683204::C
                  Gene:
                  GPBP1L1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.0001/4 (GnomAD)
                  HGVS:

                  9.

                  rs1491276168 has merged into rs55857116 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    1:45683761 (GRCh38)
                    1:46149433 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45683751:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    GPBP1L1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAA=0./0 (ALFA)
                    -=0.3982/1994 (1000Genomes)
                    HGVS:
                    NC_000001.11:g.45683761_45683772del, NC_000001.11:g.45683762_45683772del, NC_000001.11:g.45683763_45683772del, NC_000001.11:g.45683764_45683772del, NC_000001.11:g.45683765_45683772del, NC_000001.11:g.45683766_45683772del, NC_000001.11:g.45683767_45683772del, NC_000001.11:g.45683768_45683772del, NC_000001.11:g.45683769_45683772del, NC_000001.11:g.45683770_45683772del, NC_000001.11:g.45683771_45683772del, NC_000001.11:g.45683772del, NC_000001.11:g.45683772dup, NC_000001.11:g.45683771_45683772dup, NC_000001.11:g.45683770_45683772dup, NC_000001.11:g.45683769_45683772dup, NC_000001.11:g.45683765_45683772dup, NC_000001.10:g.46149433_46149444del, NC_000001.10:g.46149434_46149444del, NC_000001.10:g.46149435_46149444del, NC_000001.10:g.46149436_46149444del, NC_000001.10:g.46149437_46149444del, NC_000001.10:g.46149438_46149444del, NC_000001.10:g.46149439_46149444del, NC_000001.10:g.46149440_46149444del, NC_000001.10:g.46149441_46149444del, NC_000001.10:g.46149442_46149444del, NC_000001.10:g.46149443_46149444del, NC_000001.10:g.46149444del, NC_000001.10:g.46149444dup, NC_000001.10:g.46149443_46149444dup, NC_000001.10:g.46149442_46149444dup, NC_000001.10:g.46149441_46149444dup, NC_000001.10:g.46149437_46149444dup

                    10.

                    rs1491264455 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      1:45684259 (GRCh38)
                      1:46149932 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:45684259:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA
                      Gene:
                      GPBP1L1 (Varview)
                      Functional Consequence:
                      intron_variant
                      HGVS:

                      11.

                      rs1491212032 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CAAAA [Show Flanks]
                        Chromosome:
                        1:45627736 (GRCh38)
                        1:46093409 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:45627736:AAAA:AAAACAAAA
                        Gene:
                        GPBP1L1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAACAAAA=0./0 (ALFA)
                        AAAAC=0.000004/1 (TOPMED)
                        AAAAC=0.000016/2 (GnomAD)
                        HGVS:
                        NC_000001.11:g.45627737_45627740A[4]CAAAA[1], NC_000001.10:g.46093409_46093412A[4]CAAAA[1], NM_021639.5:c.*516_*519T[4]GTTTT[1], NM_021639.4:c.*516_*519T[4]GTTTT[1], XM_017002019.3:c.*516_*519T[4]GTTTT[1], XM_017002019.2:c.*516_*519T[4]GTTTT[1], XM_017002019.1:c.*516_*519T[4]GTTTT[1], XM_024448806.2:c.*516_*519T[4]GTTTT[1], XM_024448806.1:c.*516_*519T[4]GTTTT[1], XM_024448810.2:c.*516_*519T[4]GTTTT[1], XM_024448810.1:c.*516_*519T[4]GTTTT[1], XM_024448809.2:c.*516_*519T[4]GTTTT[1], XM_024448809.1:c.*516_*519T[4]GTTTT[1], XM_024448808.2:c.*516_*519T[4]GTTTT[1], XM_024448808.1:c.*516_*519T[4]GTTTT[1], XM_047427059.1:c.*516_*519T[4]GTTTT[1], XM_047427069.1:c.*516_*519T[4]GTTTT[1], XM_047427070.1:c.*516_*519T[4]GTTTT[1], XM_047427067.1:c.*516_*519T[4]GTTTT[1], XM_047427066.1:c.*516_*519T[4]GTTTT[1], XM_047427075.1:c.*516_*519T[4]GTTTT[1], XM_047427077.1:c.*516_*519T[4]GTTTT[1], XM_047427076.1:c.*516_*519T[4]GTTTT[1]

                        12.

                        rs1491205189 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          1:45627723 (GRCh38)
                          1:46093396 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:45627723:G:GG
                          Gene:
                          GPBP1L1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          G=0.00001/1 (GnomAD)
                          HGVS:

                          13.

                          rs1491192512 has merged into rs377286844 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
                            Chromosome:
                            1:45627739 (GRCh38)
                            1:46093411 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:45627735:AAAAAAAAA:AAA,NC_000001.11:45627735:AAAAAAAAA:AAAAA,NC_000001.11:45627735:AAAAAAAAA:AAAAAAA,NC_000001.11:45627735:AAAAAAAAA:AAAAAAAA,NC_000001.11:45627735:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:45627735:AAAAAAAAA:AAAAAAAAAAA,NC_000001.11:45627735:AAAAAAAAA:AAAAAAAAAAAAA
                            Gene:
                            GPBP1L1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAA=0./0 (ALFA)
                            A=0.00056/1 (Korea1K)
                            A=0.00273/43 (TOMMO)
                            HGVS:
                            NC_000001.11:g.45627739_45627744del, NC_000001.11:g.45627741_45627744del, NC_000001.11:g.45627743_45627744del, NC_000001.11:g.45627744del, NC_000001.11:g.45627744dup, NC_000001.11:g.45627743_45627744dup, NC_000001.11:g.45627741_45627744dup, NC_000001.10:g.46093411_46093416del, NC_000001.10:g.46093413_46093416del, NC_000001.10:g.46093415_46093416del, NC_000001.10:g.46093416del, NC_000001.10:g.46093416dup, NC_000001.10:g.46093415_46093416dup, NC_000001.10:g.46093413_46093416dup, NM_021639.5:c.*515_*520del, NM_021639.5:c.*517_*520del, NM_021639.5:c.*519_*520del, NM_021639.5:c.*520del, NM_021639.5:c.*520dup, NM_021639.5:c.*519_*520dup, NM_021639.5:c.*517_*520dup, NM_021639.4:c.*515_*520del, NM_021639.4:c.*517_*520del, NM_021639.4:c.*519_*520del, NM_021639.4:c.*520del, NM_021639.4:c.*520dup, NM_021639.4:c.*519_*520dup, NM_021639.4:c.*517_*520dup, XM_017002019.3:c.*515_*520del, XM_017002019.3:c.*517_*520del, XM_017002019.3:c.*519_*520del, XM_017002019.3:c.*520del, XM_017002019.3:c.*520dup, XM_017002019.3:c.*519_*520dup, XM_017002019.3:c.*517_*520dup, XM_017002019.2:c.*515_*520del, XM_017002019.2:c.*517_*520del, XM_017002019.2:c.*519_*520del, XM_017002019.2:c.*520del, XM_017002019.2:c.*520dup, XM_017002019.2:c.*519_*520dup, XM_017002019.2:c.*517_*520dup, XM_017002019.1:c.*515_*520del, XM_017002019.1:c.*517_*520del, XM_017002019.1:c.*519_*520del, XM_017002019.1:c.*520del, XM_017002019.1:c.*520dup, XM_017002019.1:c.*519_*520dup, XM_017002019.1:c.*517_*520dup, XM_024448806.2:c.*515_*520del, XM_024448806.2:c.*517_*520del, XM_024448806.2:c.*519_*520del, XM_024448806.2:c.*520del, XM_024448806.2:c.*520dup, XM_024448806.2:c.*519_*520dup, XM_024448806.2:c.*517_*520dup, XM_024448806.1:c.*515_*520del, XM_024448806.1:c.*517_*520del, XM_024448806.1:c.*519_*520del, XM_024448806.1:c.*520del, XM_024448806.1:c.*520dup, XM_024448806.1:c.*519_*520dup, XM_024448806.1:c.*517_*520dup, XM_024448810.2:c.*515_*520del, XM_024448810.2:c.*517_*520del, XM_024448810.2:c.*519_*520del, XM_024448810.2:c.*520del, XM_024448810.2:c.*520dup, XM_024448810.2:c.*519_*520dup, XM_024448810.2:c.*517_*520dup, XM_024448810.1:c.*515_*520del, XM_024448810.1:c.*517_*520del, XM_024448810.1:c.*519_*520del, XM_024448810.1:c.*520del, XM_024448810.1:c.*520dup, XM_024448810.1:c.*519_*520dup, XM_024448810.1:c.*517_*520dup, XM_024448809.2:c.*515_*520del, XM_024448809.2:c.*517_*520del, XM_024448809.2:c.*519_*520del, XM_024448809.2:c.*520del, XM_024448809.2:c.*520dup, XM_024448809.2:c.*519_*520dup, XM_024448809.2:c.*517_*520dup, XM_024448809.1:c.*515_*520del, XM_024448809.1:c.*517_*520del, XM_024448809.1:c.*519_*520del, XM_024448809.1:c.*520del, XM_024448809.1:c.*520dup, XM_024448809.1:c.*519_*520dup, XM_024448809.1:c.*517_*520dup, XM_024448808.2:c.*515_*520del, XM_024448808.2:c.*517_*520del, XM_024448808.2:c.*519_*520del, XM_024448808.2:c.*520del, XM_024448808.2:c.*520dup, XM_024448808.2:c.*519_*520dup, XM_024448808.2:c.*517_*520dup, XM_024448808.1:c.*515_*520del, XM_024448808.1:c.*517_*520del, XM_024448808.1:c.*519_*520del, XM_024448808.1:c.*520del, XM_024448808.1:c.*520dup, XM_024448808.1:c.*519_*520dup, XM_024448808.1:c.*517_*520dup, XM_047427059.1:c.*515_*520del, XM_047427059.1:c.*517_*520del, XM_047427059.1:c.*519_*520del, XM_047427059.1:c.*520del, XM_047427059.1:c.*520dup, XM_047427059.1:c.*519_*520dup, XM_047427059.1:c.*517_*520dup, XM_047427069.1:c.*515_*520del, XM_047427069.1:c.*517_*520del, XM_047427069.1:c.*519_*520del, XM_047427069.1:c.*520del, XM_047427069.1:c.*520dup, XM_047427069.1:c.*519_*520dup, XM_047427069.1:c.*517_*520dup, XM_047427070.1:c.*515_*520del, XM_047427070.1:c.*517_*520del, XM_047427070.1:c.*519_*520del, XM_047427070.1:c.*520del, XM_047427070.1:c.*520dup, XM_047427070.1:c.*519_*520dup, XM_047427070.1:c.*517_*520dup, XM_047427067.1:c.*515_*520del, XM_047427067.1:c.*517_*520del, XM_047427067.1:c.*519_*520del, XM_047427067.1:c.*520del, XM_047427067.1:c.*520dup, XM_047427067.1:c.*519_*520dup, XM_047427067.1:c.*517_*520dup, XM_047427066.1:c.*515_*520del, XM_047427066.1:c.*517_*520del, XM_047427066.1:c.*519_*520del, XM_047427066.1:c.*520del, XM_047427066.1:c.*520dup, XM_047427066.1:c.*519_*520dup, XM_047427066.1:c.*517_*520dup, XM_047427075.1:c.*515_*520del, XM_047427075.1:c.*517_*520del, XM_047427075.1:c.*519_*520del, XM_047427075.1:c.*520del, XM_047427075.1:c.*520dup, XM_047427075.1:c.*519_*520dup, XM_047427075.1:c.*517_*520dup, XM_047427077.1:c.*515_*520del, XM_047427077.1:c.*517_*520del, XM_047427077.1:c.*519_*520del, XM_047427077.1:c.*520del, XM_047427077.1:c.*520dup, XM_047427077.1:c.*519_*520dup, XM_047427077.1:c.*517_*520dup, XM_047427076.1:c.*515_*520del, XM_047427076.1:c.*517_*520del, XM_047427076.1:c.*519_*520del, XM_047427076.1:c.*520del, XM_047427076.1:c.*520dup, XM_047427076.1:c.*519_*520dup, XM_047427076.1:c.*517_*520dup

                            14.

                            rs1491162106 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GA>- [Show Flanks]
                              Chromosome:
                              1:45627724 (GRCh38)
                              1:46093396 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:45627722:AGA:A
                              Gene:
                              GPBP1L1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000084/1 (ALFA)
                              -=0.00002/2 (GnomAD)
                              HGVS:

                              15.

                              rs1491133225 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TC>- [Show Flanks]
                                Chromosome:
                                1:45669625 (GRCh38)
                                1:46135297 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:45669623:CTC:C
                                Gene:
                                GPBP1L1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000142/2 (ALFA)
                                -=0.000318/5 (TOMMO)
                                -=0.000348/92 (TOPMED)
                                -=0.000652/62 (GnomAD)
                                HGVS:

                                16.

                                rs1491126984 has merged into rs60624036 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  1:45684265 (GRCh38)
                                  1:46149937 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:45684258:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  GPBP1L1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAA=0./0 (ALFA)
                                  -=0.4685/2346 (1000Genomes)
                                  HGVS:
                                  NC_000001.11:g.45684265_45684277del, NC_000001.11:g.45684267_45684277del, NC_000001.11:g.45684268_45684277del, NC_000001.11:g.45684269_45684277del, NC_000001.11:g.45684270_45684277del, NC_000001.11:g.45684271_45684277del, NC_000001.11:g.45684272_45684277del, NC_000001.11:g.45684273_45684277del, NC_000001.11:g.45684274_45684277del, NC_000001.11:g.45684275_45684277del, NC_000001.11:g.45684276_45684277del, NC_000001.11:g.45684277del, NC_000001.11:g.45684277dup, NC_000001.11:g.45684276_45684277dup, NC_000001.11:g.45684275_45684277dup, NC_000001.11:g.45684274_45684277dup, NC_000001.11:g.45684273_45684277dup, NC_000001.11:g.45684272_45684277dup, NC_000001.11:g.45684268_45684277dup, NC_000001.11:g.45684267_45684277dup, NC_000001.11:g.45684264_45684277dup, NC_000001.11:g.45684263_45684277dup, NC_000001.11:g.45684262_45684277dup, NC_000001.11:g.45684259_45684277dup, NC_000001.11:g.45684277_45684278insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.45684277_45684278insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.45684277_45684278insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.45684277_45684278insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.45684277_45684278insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.46149937_46149949del, NC_000001.10:g.46149939_46149949del, NC_000001.10:g.46149940_46149949del, NC_000001.10:g.46149941_46149949del, NC_000001.10:g.46149942_46149949del, NC_000001.10:g.46149943_46149949del, NC_000001.10:g.46149944_46149949del, NC_000001.10:g.46149945_46149949del, NC_000001.10:g.46149946_46149949del, NC_000001.10:g.46149947_46149949del, NC_000001.10:g.46149948_46149949del, NC_000001.10:g.46149949del, NC_000001.10:g.46149949dup, NC_000001.10:g.46149948_46149949dup, NC_000001.10:g.46149947_46149949dup, NC_000001.10:g.46149946_46149949dup, NC_000001.10:g.46149945_46149949dup, NC_000001.10:g.46149944_46149949dup, NC_000001.10:g.46149940_46149949dup, NC_000001.10:g.46149939_46149949dup, NC_000001.10:g.46149936_46149949dup, NC_000001.10:g.46149935_46149949dup, NC_000001.10:g.46149934_46149949dup, NC_000001.10:g.46149931_46149949dup, NC_000001.10:g.46149949_46149950insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.46149949_46149950insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.46149949_46149950insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.46149949_46149950insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.46149949_46149950insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                                  17.

                                  rs1491125051 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    1:45638430 (GRCh38)
                                    1:46104102 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:45638429:CA:
                                    Gene:
                                    GPBP1L1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.00003/8 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1491109013 has merged into rs778113669 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      1:45647177 (GRCh38)
                                      1:46112849 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:45647166:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      GPBP1L1 (Varview), RPS15AP10 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.45647177_45647183del, NC_000001.11:g.45647180_45647183del, NC_000001.11:g.45647181_45647183del, NC_000001.11:g.45647182_45647183del, NC_000001.11:g.45647183del, NC_000001.11:g.45647183dup, NC_000001.11:g.45647182_45647183dup, NC_000001.11:g.45647181_45647183dup, NC_000001.11:g.45647180_45647183dup, NC_000001.11:g.45647179_45647183dup, NC_000001.11:g.45647178_45647183dup, NC_000001.11:g.45647177_45647183dup, NC_000001.11:g.45647176_45647183dup, NC_000001.11:g.45647174_45647183dup, NC_000001.11:g.45647173_45647183dup, NC_000001.11:g.45647170_45647183dup, NC_000001.11:g.45647169_45647183dup, NC_000001.10:g.46112849_46112855del, NC_000001.10:g.46112852_46112855del, NC_000001.10:g.46112853_46112855del, NC_000001.10:g.46112854_46112855del, NC_000001.10:g.46112855del, NC_000001.10:g.46112855dup, NC_000001.10:g.46112854_46112855dup, NC_000001.10:g.46112853_46112855dup, NC_000001.10:g.46112852_46112855dup, NC_000001.10:g.46112851_46112855dup, NC_000001.10:g.46112850_46112855dup, NC_000001.10:g.46112849_46112855dup, NC_000001.10:g.46112848_46112855dup, NC_000001.10:g.46112846_46112855dup, NC_000001.10:g.46112845_46112855dup, NC_000001.10:g.46112842_46112855dup, NC_000001.10:g.46112841_46112855dup

                                      19.

                                      rs1491094255 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GA [Show Flanks]
                                        Chromosome:
                                        1:45683752 (GRCh38)
                                        1:46149425 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:45683752:A:AGA
                                        Gene:
                                        GPBP1L1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        HGVS:

                                        20.

                                        rs1491087668 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          1:45684276 (GRCh38)
                                          1:46149949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:45684276::G
                                          Gene:
                                          GPBP1L1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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