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Items: 1 to 20 of 5034

1.

rs1491487104 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTT [Show Flanks]
    Chromosome:
    17:80140312 (GRCh38)
    17:78114112 (GRCh37)
    Canonical SPDI:
    NC_000017.11:80140312:CTT:CTTCTT
    Gene:
    EIF4A3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTTCTT=0./0 (ALFA)
    CTT=0.000049/6 (GnomAD)
    HGVS:
    2.

    rs1491423820 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      17:80147046 (GRCh38)
      17:78120845 (GRCh37)
      Canonical SPDI:
      NC_000017.11:80147044:CGC:C
      Gene:
      EIF4A3 (Varview)
      Functional Consequence:
      5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      -=0.000132/15 (GnomAD)
      HGVS:
      3.

      rs1491363726 has merged into rs926415042 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
        Chromosome:
        17:80134527 (GRCh38)
        17:78108326 (GRCh37)
        Canonical SPDI:
        NC_000017.11:80134517:AAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:80134517:AAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:80134517:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:80134517:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:80134517:AAAAAAAAAAAA:AAAAAAAAAAAAAA
        Gene:
        EIF4A3 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAA=0./0 (ALFA)
        A=0.125/1 (KOREAN)
        HGVS:
        NC_000017.11:g.80134527_80134529del, NC_000017.11:g.80134528_80134529del, NC_000017.11:g.80134529del, NC_000017.11:g.80134529dup, NC_000017.11:g.80134528_80134529dup, NC_000017.10:g.78108326_78108328del, NC_000017.10:g.78108327_78108328del, NC_000017.10:g.78108328del, NC_000017.10:g.78108328dup, NC_000017.10:g.78108327_78108328dup, NG_046916.1:g.17664_17666del, NG_046916.1:g.17665_17666del, NG_046916.1:g.17666del, NG_046916.1:g.17666dup, NG_046916.1:g.17665_17666dup, NM_014740.4:c.*970_*972del, NM_014740.4:c.*971_*972del, NM_014740.4:c.*972del, NM_014740.4:c.*972dup, NM_014740.4:c.*971_*972dup, NM_001411099.1:c.*970_*972del, NM_001411099.1:c.*971_*972del, NM_001411099.1:c.*972del, NM_001411099.1:c.*972dup, NM_001411099.1:c.*971_*972dup, NW_025791802.1:g.159233_159235del, NW_025791802.1:g.159234_159235del, NW_025791802.1:g.159235del, NW_025791802.1:g.159235dup, NW_025791802.1:g.159234_159235dup, XM_011525522.3:c.*970_*972del, XM_011525522.3:c.*971_*972del, XM_011525522.3:c.*972del, XM_011525522.3:c.*972dup, XM_011525522.3:c.*971_*972dup
        4.

        rs1491323731 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          17:80136809 (GRCh38)
          17:78110608 (GRCh37)
          Canonical SPDI:
          NC_000017.11:80136808:TG:
          Gene:
          EIF4A3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.00015/2 (TOMMO)
          HGVS:
          5.

          rs1491263140 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GAAAA [Show Flanks]
            Chromosome:
            17:80136809 (GRCh38)
            17:78110609 (GRCh37)
            Canonical SPDI:
            NC_000017.11:80136809:GAAAA:GAAAAGAAAA
            Gene:
            EIF4A3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GAAAAGAAAA=0.00008/1 (ALFA)
            GAAAA=0.00014/5 (GnomAD)
            HGVS:
            6.

            rs1491236038 has merged into rs555439908 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,TTTT,TTTTTT,TTTTTTTT [Show Flanks]
              Chromosome:
              17:80148858 (GRCh38)
              17:78122657 (GRCh37)
              Canonical SPDI:
              NC_000017.11:80148855:TTTT:TT,NC_000017.11:80148855:TTTT:TTTTTT,NC_000017.11:80148855:TTTT:TTTTTTTT,NC_000017.11:80148855:TTTT:TTTTTTTTTT
              Gene:
              EIF4A3 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              HGVS:
              7.

              rs1491189032 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CT,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                17:80148856 (GRCh38)
                17:78122656 (GRCh37)
                Canonical SPDI:
                NC_000017.11:80148856:T:TCT,NC_000017.11:80148856:T:TGT,NC_000017.11:80148856:T:TGTGT,NC_000017.11:80148856:T:TGTGTGT,NC_000017.11:80148856:T:TGTGTGTGT,NC_000017.11:80148856:T:TGTGTGTGTGT,NC_000017.11:80148856:T:TGTGTGTGTGTGT,NC_000017.11:80148856:T:TGTGTGTGTGTGTGT
                Gene:
                EIF4A3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TGT=0./0 (ALFA)
                HGVS:
                NC_000017.11:g.80148857_80148858insCT, NC_000017.11:g.80148857_80148858insGT, NC_000017.11:g.80148857_80148858insGTGT, NC_000017.11:g.80148858GT[3], NC_000017.11:g.80148858GT[4], NC_000017.11:g.80148858GT[5], NC_000017.11:g.80148858GT[6], NC_000017.11:g.80148858GT[7], NC_000017.10:g.78122656_78122657insCT, NC_000017.10:g.78122656_78122657insGT, NC_000017.10:g.78122656_78122657insGTGT, NC_000017.10:g.78122657GT[3], NC_000017.10:g.78122657GT[4], NC_000017.10:g.78122657GT[5], NC_000017.10:g.78122657GT[6], NC_000017.10:g.78122657GT[7], NG_046916.1:g.3327_3328insGA, NG_046916.1:g.3327_3328insCA, NG_046916.1:g.3327_3328insCACA, NG_046916.1:g.3328CA[3], NG_046916.1:g.3328CA[4], NG_046916.1:g.3328CA[5], NG_046916.1:g.3328CA[6], NG_046916.1:g.3328CA[7], NW_025791802.1:g.173563_173564insCT, NW_025791802.1:g.173563_173564insGT, NW_025791802.1:g.173563_173564insGTGT, NW_025791802.1:g.173564GT[3], NW_025791802.1:g.173564GT[4], NW_025791802.1:g.173564GT[5], NW_025791802.1:g.173564GT[6], NW_025791802.1:g.173564GT[7]
                8.

                rs1491097105 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GC>- [Show Flanks]
                  Chromosome:
                  17:80140312 (GRCh38)
                  17:78114111 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:80140311:GC:
                  Gene:
                  EIF4A3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491060641 has merged into rs3035988 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    17:80136825 (GRCh38)
                    17:78110624 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:80136810:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    EIF4A3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAAA=0./0 (ALFA)
                    A=0.4459/2233 (1000Genomes)
                    HGVS:
                    NC_000017.11:g.80136825_80136827del, NC_000017.11:g.80136826_80136827del, NC_000017.11:g.80136827del, NC_000017.11:g.80136827dup, NC_000017.11:g.80136826_80136827dup, NC_000017.11:g.80136825_80136827dup, NC_000017.11:g.80136824_80136827dup, NC_000017.11:g.80136823_80136827dup, NC_000017.11:g.80136822_80136827dup, NC_000017.11:g.80136821_80136827dup, NC_000017.11:g.80136820_80136827dup, NC_000017.11:g.80136817_80136827dup, NC_000017.10:g.78110624_78110626del, NC_000017.10:g.78110625_78110626del, NC_000017.10:g.78110626del, NC_000017.10:g.78110626dup, NC_000017.10:g.78110625_78110626dup, NC_000017.10:g.78110624_78110626dup, NC_000017.10:g.78110623_78110626dup, NC_000017.10:g.78110622_78110626dup, NC_000017.10:g.78110621_78110626dup, NC_000017.10:g.78110620_78110626dup, NC_000017.10:g.78110619_78110626dup, NC_000017.10:g.78110616_78110626dup, NG_046916.1:g.15371_15373del, NG_046916.1:g.15372_15373del, NG_046916.1:g.15373del, NG_046916.1:g.15373dup, NG_046916.1:g.15372_15373dup, NG_046916.1:g.15371_15373dup, NG_046916.1:g.15370_15373dup, NG_046916.1:g.15369_15373dup, NG_046916.1:g.15368_15373dup, NG_046916.1:g.15367_15373dup, NG_046916.1:g.15366_15373dup, NG_046916.1:g.15363_15373dup, NW_025791802.1:g.161531_161533del, NW_025791802.1:g.161532_161533del, NW_025791802.1:g.161533del, NW_025791802.1:g.161533dup, NW_025791802.1:g.161532_161533dup, NW_025791802.1:g.161531_161533dup, NW_025791802.1:g.161530_161533dup, NW_025791802.1:g.161529_161533dup, NW_025791802.1:g.161528_161533dup, NW_025791802.1:g.161527_161533dup, NW_025791802.1:g.161526_161533dup, NW_025791802.1:g.161523_161533dup
                    10.

                    rs1490916438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      17:80145953 (GRCh38)
                      17:78119752 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:80145952:C:A,NC_000017.11:80145952:C:G
                      Gene:
                      EIF4A3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490903985 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:80138172 (GRCh38)
                        17:78111971 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:80138171:C:G
                        Gene:
                        EIF4A3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1490873082 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:80151401 (GRCh38)
                          17:78125200 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:80151400:C:T
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000042/11 (TOPMED)
                          T=0.000043/6 (GnomAD)
                          HGVS:
                          13.

                          rs1490821044 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            17:80151012 (GRCh38)
                            17:78124811 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:80151011:G:
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000049/13 (TOPMED)
                            HGVS:
                            14.

                            rs1490520533 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:80150141 (GRCh38)
                              17:78123940 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:80150140:C:T
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490448740 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                17:80136351 (GRCh38)
                                17:78110150 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:80136350:G:T
                                Gene:
                                EIF4A3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1490427623 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:80136837 (GRCh38)
                                  17:78110636 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:80136836:C:G
                                  Gene:
                                  EIF4A3 (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:
                                  17.

                                  rs1490309242 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    T>G
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1490212176 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:80139266 (GRCh38)
                                      17:78113065 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:80139265:A:G
                                      Gene:
                                      EIF4A3 (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:
                                      19.

                                      rs1490196543 has merged into rs34707524 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        17:80140325 (GRCh38)
                                        17:78114124 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:80140313:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        EIF4A3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTT=0./0 (ALFA)
                                        -=0.476/2384 (1000Genomes)
                                        HGVS:
                                        NC_000017.11:g.80140325_80140331del, NC_000017.11:g.80140326_80140331del, NC_000017.11:g.80140327_80140331del, NC_000017.11:g.80140328_80140331del, NC_000017.11:g.80140329_80140331del, NC_000017.11:g.80140330_80140331del, NC_000017.11:g.80140331del, NC_000017.11:g.80140331dup, NC_000017.11:g.80140330_80140331dup, NC_000017.11:g.80140329_80140331dup, NC_000017.11:g.80140328_80140331dup, NC_000017.11:g.80140327_80140331dup, NC_000017.11:g.80140326_80140331dup, NC_000017.11:g.80140325_80140331dup, NC_000017.11:g.80140324_80140331dup, NC_000017.11:g.80140331_80140332insTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.78114124_78114130del, NC_000017.10:g.78114125_78114130del, NC_000017.10:g.78114126_78114130del, NC_000017.10:g.78114127_78114130del, NC_000017.10:g.78114128_78114130del, NC_000017.10:g.78114129_78114130del, NC_000017.10:g.78114130del, NC_000017.10:g.78114130dup, NC_000017.10:g.78114129_78114130dup, NC_000017.10:g.78114128_78114130dup, NC_000017.10:g.78114127_78114130dup, NC_000017.10:g.78114126_78114130dup, NC_000017.10:g.78114125_78114130dup, NC_000017.10:g.78114124_78114130dup, NC_000017.10:g.78114123_78114130dup, NC_000017.10:g.78114130_78114131insTTTTTTTTTTTTTTTTTTTT, NG_046916.1:g.11864_11870del, NG_046916.1:g.11865_11870del, NG_046916.1:g.11866_11870del, NG_046916.1:g.11867_11870del, NG_046916.1:g.11868_11870del, NG_046916.1:g.11869_11870del, NG_046916.1:g.11870del, NG_046916.1:g.11870dup, NG_046916.1:g.11869_11870dup, NG_046916.1:g.11868_11870dup, NG_046916.1:g.11867_11870dup, NG_046916.1:g.11866_11870dup, NG_046916.1:g.11865_11870dup, NG_046916.1:g.11864_11870dup, NG_046916.1:g.11863_11870dup, NG_046916.1:g.11870_11871insAAAAAAAAAAAAAAAAAAAA, NW_025791802.1:g.165031_165037del, NW_025791802.1:g.165032_165037del, NW_025791802.1:g.165033_165037del, NW_025791802.1:g.165034_165037del, NW_025791802.1:g.165035_165037del, NW_025791802.1:g.165036_165037del, NW_025791802.1:g.165037del, NW_025791802.1:g.165037dup, NW_025791802.1:g.165036_165037dup, NW_025791802.1:g.165035_165037dup, NW_025791802.1:g.165034_165037dup, NW_025791802.1:g.165033_165037dup, NW_025791802.1:g.165032_165037dup, NW_025791802.1:g.165031_165037dup, NW_025791802.1:g.165030_165037dup, NW_025791802.1:g.165037_165038insTTTTTTTTTTTTTTTTTTTT
                                        20.

                                        rs1490136395 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:80136236 (GRCh38)
                                          17:78110035 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:80136235:G:A
                                          Gene:
                                          EIF4A3 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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