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Items: 1 to 20 of 1000

1.

rs1491579983 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    17:303754 (GRCh38)
    17:153545 (GRCh37)
    Canonical SPDI:
    NC_000017.11:303752:GAG:G
    Gene:
    RPH3AL (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.00017/2 (ALFA)
    HGVS:

    2.

    rs1491576515 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TCTA,TCTATCTA,TCTATCTATCTA,TCTATCTATCTATCTA,TCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTA [Show Flanks]
      Chromosome:
      17:324698 (GRCh38)
      17:174490 (GRCh37)
      Canonical SPDI:
      NC_000017.11:324698:CTA:CTATCTA,NC_000017.11:324698:CTA:CTATCTATCTA,NC_000017.11:324698:CTA:CTATCTATCTATCTA,NC_000017.11:324698:CTA:CTATCTATCTATCTATCTA,NC_000017.11:324698:CTA:CTATCTATCTATCTATCTATCTA,NC_000017.11:324698:CTA:CTATCTATCTATCTATCTATCTATCTA
      Gene:
      RPH3AL (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTATCTATCTA=0./0 (ALFA)
      HGVS:
      NC_000017.11:g.324701_324702insTCTA, NC_000017.11:g.324701_324702insTCTATCTA, NC_000017.11:g.324702TCTA[3], NC_000017.11:g.324702TCTA[4], NC_000017.11:g.324702TCTA[5], NC_000017.11:g.324702TCTA[6], NC_000017.10:g.174492_174493insTCTA, NC_000017.10:g.174492_174493insTCTATCTA, NC_000017.10:g.174493TCTA[3], NC_000017.10:g.174493TCTA[4], NC_000017.10:g.174493TCTA[5], NC_000017.10:g.174493TCTA[6], NG_023031.1:g.33144_33145insATAG, NG_023031.1:g.33144_33145insATAGATAG, NG_023031.1:g.33145ATAG[3], NG_023031.1:g.33145ATAG[4], NG_023031.1:g.33145ATAG[5], NG_023031.1:g.33145ATAG[6], NW_003315952.3:g.296136_296137insTCTA, NW_003315952.3:g.296136_296137insTCTATCTA, NW_003315952.3:g.296137TCTA[3], NW_003315952.3:g.296137TCTA[4], NW_003315952.3:g.296137TCTA[5], NW_003315952.3:g.296137TCTA[6], NW_004070872.2:g.264699_264700insTCTA, NW_004070872.2:g.264699_264700insTCTATCTA, NW_004070872.2:g.264700TCTA[3], NW_004070872.2:g.264700TCTA[4], NW_004070872.2:g.264700TCTA[5], NW_004070872.2:g.264700TCTA[6], NT_187662.1:g.77939_77940insATAG, NT_187662.1:g.77939_77940insATAGATAG, NT_187662.1:g.77940ATAG[3], NT_187662.1:g.77940ATAG[4], NT_187662.1:g.77940ATAG[5], NT_187662.1:g.77940ATAG[6]

      3.

      rs1491561924 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        17:304987 (GRCh38)
        17:154778 (GRCh37)
        Canonical SPDI:
        NC_000017.11:304986:GA:
        Gene:
        RPH3AL (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.00019/8 (GnomAD)
        -=0.01259/7 (NorthernSweden)
        HGVS:

        4.

        rs1491552872 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          17:303753 (GRCh38)
          17:153545 (GRCh37)
          Canonical SPDI:
          NC_000017.11:303753::C
          Gene:
          RPH3AL (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.00005/1 (TOMMO)
          HGVS:

          5.

          rs1491552607 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            17:241055 (GRCh38)
            17:90846 (GRCh37)
            Canonical SPDI:
            NC_000017.11:241054:CA:
            Gene:
            RPH3AL (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00211/25 (ALFA)
            HGVS:

            6.

            rs1491527567 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GT [Show Flanks]
              Chromosome:
              17:268554 (GRCh38)
              17:118346 (GRCh37)
              Canonical SPDI:
              NC_000017.11:268554:T:TGT
              Gene:
              RPH3AL (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TGT=0./0 (ALFA)
              TG=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491527374 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->TTA
                Chromosome:
                no mapping
                Canonical SPDI:

                8.

                rs1491511965 has merged into rs1334599844 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>-,GG [Show Flanks]
                  Chromosome:
                  17:305094 (GRCh38)
                  17:154885 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:305093:GGGGG:GGGG,NC_000017.11:305093:GGGGG:GGGGGG
                  Gene:
                  RPH3AL (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GGGGGG=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491510168 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    17:321775 (GRCh38)
                    17:171566 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:321771:ACACA:ACA
                    Gene:
                    RPH3AL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACA=0./0 (ALFA)
                    -=0.00003/8 (TOPMED)
                    -=0.000156/1 (1000Genomes)
                    HGVS:

                    10.

                    rs1491487337 has merged into rs56752848 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                      Chromosome:
                      17:251988 (GRCh38)
                      17:101779 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
                      Gene:
                      RPH3AL (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTT=0./0 (ALFA)
                      T=0.1312/657 (1000Genomes)
                      T=0.225/9 (GENOME_DK)
                      HGVS:
                      NC_000017.11:g.251988_251990del, NC_000017.11:g.251989_251990del, NC_000017.11:g.251990del, NC_000017.11:g.251990dup, NC_000017.11:g.251989_251990dup, NC_000017.10:g.101779_101781del, NC_000017.10:g.101780_101781del, NC_000017.10:g.101781del, NC_000017.10:g.101781dup, NC_000017.10:g.101780_101781dup, NG_023031.1:g.105864_105866del, NG_023031.1:g.105865_105866del, NG_023031.1:g.105866del, NG_023031.1:g.105866dup, NG_023031.1:g.105865_105866dup, NW_003315952.3:g.203499dup, NW_003315952.3:g.203498_203499del, NW_003315952.3:g.203499del, NW_003315952.3:g.203498_203499dup, NW_003315952.3:g.203497_203499dup, NW_004070872.2:g.191986_191988del, NW_004070872.2:g.191987_191988del, NW_004070872.2:g.191988del, NW_004070872.2:g.191988dup, NW_004070872.2:g.191987_191988dup, NW_003315952.2:g.101669dup, NW_003315952.2:g.101668_101669del, NW_003315952.2:g.101669del, NW_003315952.2:g.101668_101669dup, NW_003315952.2:g.101667_101669dup

                      11.

                      rs1491469398 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AG>- [Show Flanks]
                        Chromosome:
                        17:303547 (GRCh38)
                        17:153338 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:303545:GAG:G
                        Gene:
                        RPH3AL (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        -=0.000009/1 (GnomAD)
                        HGVS:

                        12.

                        rs1491466040 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          17:385852 (GRCh38)
                          17:235644 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:385852::A
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.00008/1 (ALFA)
                          HGVS:

                          13.

                          rs1491392332 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GC>- [Show Flanks]
                            Chromosome:
                            17:324698 (GRCh38)
                            17:174489 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:324697:GC:
                            Gene:
                            RPH3AL (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.000448/2 (ALFA)
                            -=0.000058/8 (GnomAD)
                            HGVS:

                            14.

                            rs1491390370 has merged into rs56752848 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                              Chromosome:
                              17:251988 (GRCh38)
                              17:101779 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:251976:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
                              Gene:
                              RPH3AL (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTTT=0./0 (ALFA)
                              T=0.1312/657 (1000Genomes)
                              T=0.225/9 (GENOME_DK)
                              HGVS:
                              NC_000017.11:g.251988_251990del, NC_000017.11:g.251989_251990del, NC_000017.11:g.251990del, NC_000017.11:g.251990dup, NC_000017.11:g.251989_251990dup, NC_000017.10:g.101779_101781del, NC_000017.10:g.101780_101781del, NC_000017.10:g.101781del, NC_000017.10:g.101781dup, NC_000017.10:g.101780_101781dup, NG_023031.1:g.105864_105866del, NG_023031.1:g.105865_105866del, NG_023031.1:g.105866del, NG_023031.1:g.105866dup, NG_023031.1:g.105865_105866dup, NW_003315952.3:g.203499dup, NW_003315952.3:g.203498_203499del, NW_003315952.3:g.203499del, NW_003315952.3:g.203498_203499dup, NW_003315952.3:g.203497_203499dup, NW_004070872.2:g.191986_191988del, NW_004070872.2:g.191987_191988del, NW_004070872.2:g.191988del, NW_004070872.2:g.191988dup, NW_004070872.2:g.191987_191988dup, NW_003315952.2:g.101669dup, NW_003315952.2:g.101668_101669del, NW_003315952.2:g.101669del, NW_003315952.2:g.101668_101669dup, NW_003315952.2:g.101667_101669dup

                              15.

                              rs1491386101 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C,GC [Show Flanks]
                                Chromosome:
                                17:303822 (GRCh38)
                                17:153614 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:303822::C,NC_000017.11:303822::GC
                                Gene:
                                RPH3AL (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.00017/2 (ALFA)
                                HGVS:

                                16.

                                rs1491379922 has merged into rs57086885 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AATAATAATAATAATAATAATAATAATAAT>-,AAT,AATAAT,AATAATAAT,AATAATAATAAT,AATAATAATAATAAT,AATAATAATAATAATAAT,AATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT [Show Flanks]
                                  Chromosome:
                                  17:241071 (GRCh38)
                                  17:90862 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT,NC_000017.11:241055:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAT
                                  Gene:
                                  RPH3AL (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AATAATAATAATAAT=0./0 (ALFA)
                                  AATAATAATAATAATAATAAT=0./0 (GENOME_DK)
                                  AATAATAATAATAATAATAAT=0.1554/778 (1000Genomes)
                                  AATAATAATAATAATAATAAT=0.179/690 (ALSPAC)
                                  HGVS:
                                  NC_000017.11:g.241056AAT[5], NC_000017.11:g.241056AAT[6], NC_000017.11:g.241056AAT[7], NC_000017.11:g.241056AAT[8], NC_000017.11:g.241056AAT[9], NC_000017.11:g.241056AAT[10], NC_000017.11:g.241056AAT[11], NC_000017.11:g.241056AAT[12], NC_000017.11:g.241056AAT[13], NC_000017.11:g.241056AAT[14], NC_000017.11:g.241056AAT[16], NC_000017.11:g.241056AAT[17], NC_000017.11:g.241056AAT[18], NC_000017.11:g.241056AAT[19], NC_000017.11:g.241056AAT[20], NC_000017.11:g.241056AAT[21], NC_000017.10:g.90847AAT[5], NC_000017.10:g.90847AAT[6], NC_000017.10:g.90847AAT[7], NC_000017.10:g.90847AAT[8], NC_000017.10:g.90847AAT[9], NC_000017.10:g.90847AAT[10], NC_000017.10:g.90847AAT[11], NC_000017.10:g.90847AAT[12], NC_000017.10:g.90847AAT[13], NC_000017.10:g.90847AAT[14], NC_000017.10:g.90847AAT[16], NC_000017.10:g.90847AAT[17], NC_000017.10:g.90847AAT[18], NC_000017.10:g.90847AAT[19], NC_000017.10:g.90847AAT[20], NC_000017.10:g.90847AAT[21], NG_023031.1:g.116743ATT[5], NG_023031.1:g.116743ATT[6], NG_023031.1:g.116743ATT[7], NG_023031.1:g.116743ATT[8], NG_023031.1:g.116743ATT[9], NG_023031.1:g.116743ATT[10], NG_023031.1:g.116743ATT[11], NG_023031.1:g.116743ATT[12], NG_023031.1:g.116743ATT[13], NG_023031.1:g.116743ATT[14], NG_023031.1:g.116743ATT[16], NG_023031.1:g.116743ATT[17], NG_023031.1:g.116743ATT[18], NG_023031.1:g.116743ATT[19], NG_023031.1:g.116743ATT[20], NG_023031.1:g.116743ATT[21], NW_003315952.3:g.192878AAT[15], NW_003315952.3:g.192878AAT[5], NW_003315952.3:g.192878AAT[6], NW_003315952.3:g.192878AAT[7], NW_003315952.3:g.192878AAT[9], NW_003315952.3:g.192878AAT[10], NW_003315952.3:g.192878AAT[11], NW_003315952.3:g.192878AAT[12], NW_003315952.3:g.192878AAT[13], NW_003315952.3:g.192878AAT[14], NW_003315952.3:g.192878AAT[16], NW_003315952.3:g.192878AAT[17], NW_003315952.3:g.192878AAT[18], NW_003315952.3:g.192878AAT[19], NW_003315952.3:g.192878AAT[20], NW_003315952.3:g.192878AAT[21], NW_004070872.2:g.181054AAT[5], NW_004070872.2:g.181054AAT[6], NW_004070872.2:g.181054AAT[7], NW_004070872.2:g.181054AAT[8], NW_004070872.2:g.181054AAT[9], NW_004070872.2:g.181054AAT[10], NW_004070872.2:g.181054AAT[11], NW_004070872.2:g.181054AAT[12], NW_004070872.2:g.181054AAT[13], NW_004070872.2:g.181054AAT[14], NW_004070872.2:g.181054AAT[16], NW_004070872.2:g.181054AAT[17], NW_004070872.2:g.181054AAT[18], NW_004070872.2:g.181054AAT[19], NW_004070872.2:g.181054AAT[20], NW_004070872.2:g.181054AAT[21]

                                  17.

                                  rs1491378944 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    ->CTTTTTTT
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:

                                    18.

                                    rs1491375705 has merged into rs56048443 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      17:240249 (GRCh38)
                                      17:90040 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:240237:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      RPH3AL (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAA=0./0 (ALFA)
                                      AA=0.3704/1855 (1000Genomes)
                                      HGVS:
                                      NC_000017.11:g.240249_240252del, NC_000017.11:g.240250_240252del, NC_000017.11:g.240251_240252del, NC_000017.11:g.240252del, NC_000017.11:g.240252dup, NC_000017.11:g.240251_240252dup, NC_000017.11:g.240250_240252dup, NC_000017.11:g.240249_240252dup, NC_000017.11:g.240248_240252dup, NC_000017.11:g.240247_240252dup, NC_000017.11:g.240246_240252dup, NC_000017.11:g.240245_240252dup, NC_000017.11:g.240244_240252dup, NC_000017.11:g.240243_240252dup, NC_000017.10:g.90040_90043del, NC_000017.10:g.90041_90043del, NC_000017.10:g.90042_90043del, NC_000017.10:g.90043del, NC_000017.10:g.90043dup, NC_000017.10:g.90042_90043dup, NC_000017.10:g.90041_90043dup, NC_000017.10:g.90040_90043dup, NC_000017.10:g.90039_90043dup, NC_000017.10:g.90038_90043dup, NC_000017.10:g.90037_90043dup, NC_000017.10:g.90036_90043dup, NC_000017.10:g.90035_90043dup, NC_000017.10:g.90034_90043dup, NG_023031.1:g.117602_117605del, NG_023031.1:g.117603_117605del, NG_023031.1:g.117604_117605del, NG_023031.1:g.117605del, NG_023031.1:g.117605dup, NG_023031.1:g.117604_117605dup, NG_023031.1:g.117603_117605dup, NG_023031.1:g.117602_117605dup, NG_023031.1:g.117601_117605dup, NG_023031.1:g.117600_117605dup, NG_023031.1:g.117599_117605dup, NG_023031.1:g.117598_117605dup, NG_023031.1:g.117597_117605dup, NG_023031.1:g.117596_117605dup, NW_003315952.3:g.192073_192074dup, NW_003315952.3:g.192073_192074del, NW_003315952.3:g.192074del, NW_003315952.3:g.192074dup, NW_003315952.3:g.192072_192074dup, NW_003315952.3:g.192071_192074dup, NW_003315952.3:g.192070_192074dup, NW_003315952.3:g.192069_192074dup, NW_003315952.3:g.192068_192074dup, NW_003315952.3:g.192067_192074dup, NW_003315952.3:g.192066_192074dup, NW_003315952.3:g.192065_192074dup, NW_003315952.3:g.192064_192074dup, NW_003315952.3:g.192063_192074dup, NW_004070872.2:g.180247_180250del, NW_004070872.2:g.180248_180250del, NW_004070872.2:g.180249_180250del, NW_004070872.2:g.180250del, NW_004070872.2:g.180250dup, NW_004070872.2:g.180249_180250dup, NW_004070872.2:g.180248_180250dup, NW_004070872.2:g.180247_180250dup, NW_004070872.2:g.180246_180250dup, NW_004070872.2:g.180245_180250dup, NW_004070872.2:g.180244_180250dup, NW_004070872.2:g.180243_180250dup, NW_004070872.2:g.180242_180250dup, NW_004070872.2:g.180241_180250dup

                                      19.

                                      rs1491370125 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        17:241720 (GRCh38)
                                        17:91512 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:241720:C:CC
                                        Gene:
                                        RPH3AL (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CC=0./0 (ALFA)
                                        C=0.01337/1257 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491364398 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->ATGT [Show Flanks]
                                          Chromosome:
                                          17:266204 (GRCh38)
                                          17:115996 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:266204:TGT:TGTATGT
                                          Gene:
                                          RPH3AL (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TGTATGT=0./0 (ALFA)
                                          TGTA=0.00002/2 (GnomAD)
                                          HGVS:

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