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Items: 1 to 20 of 9932

1.

rs1491564450 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A [Show Flanks]
    Chromosome:
    16:20041260 (GRCh38)
    16:20052582 (GRCh37)
    Canonical SPDI:
    NC_000016.10:20041258:AAAA:A,NC_000016.10:20041258:AAAA:AA
    Gene:
    GPR139 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0./0 (ALFA)
    HGVS:
    2.

    rs1491542604 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->GG [Show Flanks]
      Chromosome:
      16:20041259 (GRCh38)
      16:20052582 (GRCh37)
      Canonical SPDI:
      NC_000016.10:20041259::GG
      Gene:
      GPR139 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      GG=0.00134/6 (GnomAD)
      HGVS:
      3.

      rs1491532287 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GAAAAA [Show Flanks]
        Chromosome:
        16:20051063 (GRCh38)
        16:20062386 (GRCh37)
        Canonical SPDI:
        NC_000016.10:20051063:AAAAA:AAAAAGAAAAA
        Gene:
        GPR139 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAGAAAAA=0./0 (ALFA)
        AAAAAG=0.0003/5 (GnomAD)
        HGVS:
        4.

        rs1491507012 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          16:20052788 (GRCh38)
          16:20064110 (GRCh37)
          Canonical SPDI:
          NC_000016.10:20052787:CA:
          Gene:
          GPR139 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1491488276 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->GAGAGAGAGGAGAGAGAGAGAGAGAGAGAG
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491478870 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GA>- [Show Flanks]
              Chromosome:
              16:20061214 (GRCh38)
              16:20072536 (GRCh37)
              Canonical SPDI:
              NC_000016.10:20061213:GA:
              Gene:
              GPR139 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000671/3 (ALFA)
              -=0.000035/1 (TOMMO)
              -=0.001879/255 (GnomAD)
              HGVS:
              7.

              rs1491375906 has merged into rs3041359 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                16:20051072 (GRCh38)
                16:20062394 (GRCh37)
                Canonical SPDI:
                NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                GPR139 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000016.10:g.20051072_20051075del, NC_000016.10:g.20051073_20051075del, NC_000016.10:g.20051074_20051075del, NC_000016.10:g.20051075del, NC_000016.10:g.20051075dup, NC_000016.10:g.20051074_20051075dup, NC_000016.10:g.20051073_20051075dup, NC_000016.10:g.20051072_20051075dup, NC_000016.10:g.20051071_20051075dup, NC_000016.10:g.20051070_20051075dup, NC_000016.10:g.20051069_20051075dup, NC_000016.10:g.20051068_20051075dup, NC_000016.10:g.20051067_20051075dup, NC_000016.10:g.20051066_20051075dup, NC_000016.10:g.20051065_20051075dup, NC_000016.10:g.20051064_20051075dup, NC_000016.10:g.20051075_20051076insAAAAAAAAAAAAAA, NC_000016.9:g.20062394_20062397del, NC_000016.9:g.20062395_20062397del, NC_000016.9:g.20062396_20062397del, NC_000016.9:g.20062397del, NC_000016.9:g.20062397dup, NC_000016.9:g.20062396_20062397dup, NC_000016.9:g.20062395_20062397dup, NC_000016.9:g.20062394_20062397dup, NC_000016.9:g.20062393_20062397dup, NC_000016.9:g.20062392_20062397dup, NC_000016.9:g.20062391_20062397dup, NC_000016.9:g.20062390_20062397dup, NC_000016.9:g.20062389_20062397dup, NC_000016.9:g.20062388_20062397dup, NC_000016.9:g.20062387_20062397dup, NC_000016.9:g.20062386_20062397dup, NC_000016.9:g.20062397_20062398insAAAAAAAAAAAAAA
                8.

                rs1491371555 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  16:20065877 (GRCh38)
                  16:20077199 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:20065876:CA:
                  Gene:
                  GPR139 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  HGVS:
                  9.

                  rs1491368145 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    16:20053841 (GRCh38)
                    16:20065164 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:20053841:C:CC
                    Gene:
                    GPR139 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CC=0.000071/1 (ALFA)
                    C=0.000132/35 (TOPMED)
                    C=0.000134/17 (GnomAD)
                    HGVS:
                    10.

                    rs1491325193 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TC>- [Show Flanks]
                      Chromosome:
                      16:20053841 (GRCh38)
                      16:20065163 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:20053840:TC:
                      Gene:
                      GPR139 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491316338 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GT [Show Flanks]
                        Chromosome:
                        16:20061059 (GRCh38)
                        16:20072382 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:20061059:T:TGT
                        Gene:
                        GPR139 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGT=0./0 (ALFA)
                        TG=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491292579 has merged into rs58567910 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          16:20061075 (GRCh38)
                          16:20072397 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Gene:
                          GPR139 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGTGT=0./0 (ALFA)
                          -=0.0034/13 (ALSPAC)
                          HGVS:
                          13.

                          rs1491259608 has merged into rs10534277 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            16:20068244 (GRCh38)
                            16:20079566 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            GPR139 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000016.10:g.20068244_20068258del, NC_000016.10:g.20068245_20068258del, NC_000016.10:g.20068246_20068258del, NC_000016.10:g.20068248_20068258del, NC_000016.10:g.20068249_20068258del, NC_000016.10:g.20068251_20068258del, NC_000016.10:g.20068252_20068258del, NC_000016.10:g.20068253_20068258del, NC_000016.10:g.20068254_20068258del, NC_000016.10:g.20068255_20068258del, NC_000016.10:g.20068256_20068258del, NC_000016.10:g.20068257_20068258del, NC_000016.10:g.20068258del, NC_000016.10:g.20068258dup, NC_000016.10:g.20068257_20068258dup, NC_000016.10:g.20068256_20068258dup, NC_000016.10:g.20068255_20068258dup, NC_000016.10:g.20068254_20068258dup, NC_000016.10:g.20068253_20068258dup, NC_000016.10:g.20068252_20068258dup, NC_000016.10:g.20068251_20068258dup, NC_000016.10:g.20068250_20068258dup, NC_000016.10:g.20068249_20068258dup, NC_000016.10:g.20068237_20068258A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20079566_20079580del, NC_000016.9:g.20079567_20079580del, NC_000016.9:g.20079568_20079580del, NC_000016.9:g.20079570_20079580del, NC_000016.9:g.20079571_20079580del, NC_000016.9:g.20079573_20079580del, NC_000016.9:g.20079574_20079580del, NC_000016.9:g.20079575_20079580del, NC_000016.9:g.20079576_20079580del, NC_000016.9:g.20079577_20079580del, NC_000016.9:g.20079578_20079580del, NC_000016.9:g.20079579_20079580del, NC_000016.9:g.20079580del, NC_000016.9:g.20079580dup, NC_000016.9:g.20079579_20079580dup, NC_000016.9:g.20079578_20079580dup, NC_000016.9:g.20079577_20079580dup, NC_000016.9:g.20079576_20079580dup, NC_000016.9:g.20079575_20079580dup, NC_000016.9:g.20079574_20079580dup, NC_000016.9:g.20079573_20079580dup, NC_000016.9:g.20079572_20079580dup, NC_000016.9:g.20079571_20079580dup, NC_000016.9:g.20079559_20079580A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1]
                            14.

                            rs1491253621 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->TATGGATG [Show Flanks]
                              Chromosome:
                              16:20061214 (GRCh38)
                              16:20072537 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:20061214:ATGGATG:ATGGATGTATGGATG
                              Gene:
                              GPR139 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              ATGGATGTATGGATG=0./0 (ALFA)
                              ATGGATGT=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491145681 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                16:20068236 (GRCh38)
                                16:20079558 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:20068235:CA:
                                Gene:
                                GPR139 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00042/5 (ALFA)
                                HGVS:
                                16.

                                rs1491078982 has merged into rs71146301 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ACAC>-,AC,ACACAC,ACACACAC,ACACACACACACAC [Show Flanks]
                                  Chromosome:
                                  16:20073302 (GRCh38)
                                  16:20084624 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:20073290:CACACACACACACAC:CACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACACACACACAC
                                  Gene:
                                  GPR139 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CACACACACACAC=0./0 (ALFA)
                                  -=0.00003/8 (TOPMED)
                                  CA=0.200679/1005 (1000Genomes)
                                  CA=0.24255/4062 (TOMMO)
                                  CA=0.325/13 (GENOME_DK)
                                  CA=0.365/219 (NorthernSweden)
                                  HGVS:
                                  17.

                                  rs1491036543 has merged into rs35022647 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TT>-,T,TTT,TTTT [Show Flanks]
                                    Chromosome:
                                    16:20038039 (GRCh38)
                                    16:20049361 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                                    Gene:
                                    GPR139 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTT=0./0 (ALFA)
                                    T=0.4257/1781 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1491018467 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CTCT>-,CT [Show Flanks]
                                      Chromosome:
                                      16:20072472 (GRCh38)
                                      16:20083794 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:20072468:TCTCTCT:TCT,NC_000016.10:20072468:TCTCTCT:TCTCT
                                      Gene:
                                      GPR139 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TCTCT=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490888391 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:20075462 (GRCh38)
                                        16:20086784 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:20075461:G:C
                                        Gene:
                                        GPR139 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490867391 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          16:20060884 (GRCh38)
                                          16:20072206 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:20060883:T:C
                                          Gene:
                                          GPR139 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000053/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000107/15 (GnomAD)
                                          C=0.000156/1 (1000Genomes)
                                          C=0.000223/1 (Estonian)
                                          HGVS:

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