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Links from Gene

Items: 1 to 20 of 5147

1.

rs1491529556 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    12:76858240 (GRCh38)
    12:77252020 (GRCh37)
    Canonical SPDI:
    NC_000012.12:76858239:TG:
    Gene:
    CSRP2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.00242/40 (TOMMO)
    HGVS:
    2.

    rs1491525456 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      12:76877978 (GRCh38)
      12:77271758 (GRCh37)
      Canonical SPDI:
      NC_000012.12:76877977:CA:
      Gene:
      CSRP2 (Varview), LOC124902971 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.028265/461 (ALFA)
      -=0.000039/1 (TOMMO)
      -=0.082136/526 (1000Genomes)
      -=0.101554/13280 (GnomAD)
      -=0.118333/71 (NorthernSweden)
      -=0.140633/542 (ALSPAC)
      -=0.142665/529 (TWINSUK)
      -=0.275/11 (GENOME_DK)
      HGVS:
      3.

      rs1491487437 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        12:76870976 (GRCh38)
        12:77264757 (GRCh37)
        Canonical SPDI:
        NC_000012.12:76870976::G
        Gene:
        CSRP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1491462884 has merged into rs1224671978 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          12:76861377 (GRCh38)
          12:77255157 (GRCh37)
          Canonical SPDI:
          NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
          Gene:
          CSRP2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          5.

          rs1491417867 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            12:76861381 (GRCh38)
            12:77255161 (GRCh37)
            Canonical SPDI:
            NC_000012.12:76861380:TA:
            Gene:
            CSRP2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.001963/32 (ALFA)
            -=0.001107/2 (Korea1K)
            -=0.009413/156 (TOMMO)
            -=0.01351/1776 (GnomAD)
            HGVS:
            6.

            rs1491390125 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              12:76863828 (GRCh38)
              12:77257608 (GRCh37)
              Canonical SPDI:
              NC_000012.12:76863826:ATA:A
              Gene:
              CSRP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1491382153 has merged into rs33997080 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                12:76867344 (GRCh38)
                12:77261124 (GRCh37)
                Canonical SPDI:
                NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                CSRP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAA=0./0 (ALFA)
                AA=0.4405/2206 (1000Genomes)
                HGVS:
                NC_000012.12:g.76867344_76867358del, NC_000012.12:g.76867345_76867358del, NC_000012.12:g.76867346_76867358del, NC_000012.12:g.76867347_76867358del, NC_000012.12:g.76867349_76867358del, NC_000012.12:g.76867350_76867358del, NC_000012.12:g.76867351_76867358del, NC_000012.12:g.76867352_76867358del, NC_000012.12:g.76867354_76867358del, NC_000012.12:g.76867355_76867358del, NC_000012.12:g.76867356_76867358del, NC_000012.12:g.76867357_76867358del, NC_000012.12:g.76867358del, NC_000012.12:g.76867358dup, NC_000012.12:g.76867357_76867358dup, NC_000012.12:g.76867356_76867358dup, NC_000012.11:g.77261124_77261138del, NC_000012.11:g.77261125_77261138del, NC_000012.11:g.77261126_77261138del, NC_000012.11:g.77261127_77261138del, NC_000012.11:g.77261129_77261138del, NC_000012.11:g.77261130_77261138del, NC_000012.11:g.77261131_77261138del, NC_000012.11:g.77261132_77261138del, NC_000012.11:g.77261134_77261138del, NC_000012.11:g.77261135_77261138del, NC_000012.11:g.77261136_77261138del, NC_000012.11:g.77261137_77261138del, NC_000012.11:g.77261138del, NC_000012.11:g.77261138dup, NC_000012.11:g.77261137_77261138dup, NC_000012.11:g.77261136_77261138dup
                8.

                rs1491367163 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  12:76867332 (GRCh38)
                  12:77261112 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:76867331:TA:
                  Gene:
                  CSRP2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00008/1 (ALFA)
                  -=0.00004/1 (TOMMO)
                  -=0.0002/17 (GnomAD)
                  HGVS:
                  9.

                  rs1491363201 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TTG,TTTAAG [Show Flanks]
                    Chromosome:
                    12:76858240 (GRCh38)
                    12:77252021 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:76858240::TTG,NC_000012.12:76858240::TTTAAG
                    Gene:
                    CSRP2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TTG=0./0 (ALFA)
                    TTTAAG=0.00007/2 (TOMMO)
                    HGVS:
                    10.

                    rs1491357234 has merged into rs398020213 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      12:76870987 (GRCh38)
                      12:77264767 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      CSRP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAA=0./0 (ALFA)
                      HGVS:
                      NC_000012.12:g.76870987_76871000del, NC_000012.12:g.76870988_76871000del, NC_000012.12:g.76870989_76871000del, NC_000012.12:g.76870990_76871000del, NC_000012.12:g.76870991_76871000del, NC_000012.12:g.76870992_76871000del, NC_000012.12:g.76870993_76871000del, NC_000012.12:g.76870994_76871000del, NC_000012.12:g.76870995_76871000del, NC_000012.12:g.76870996_76871000del, NC_000012.12:g.76870997_76871000del, NC_000012.12:g.76870998_76871000del, NC_000012.12:g.76870999_76871000del, NC_000012.12:g.76871000del, NC_000012.12:g.76871000dup, NC_000012.12:g.76870999_76871000dup, NC_000012.12:g.76870998_76871000dup, NC_000012.12:g.76870997_76871000dup, NC_000012.12:g.76870996_76871000dup, NC_000012.12:g.76870995_76871000dup, NC_000012.12:g.76870994_76871000dup, NC_000012.12:g.76870993_76871000dup, NC_000012.12:g.76870991_76871000dup, NC_000012.12:g.76870988_76871000dup, NC_000012.12:g.76870983_76871000dup, NC_000012.11:g.77264767_77264780del, NC_000012.11:g.77264768_77264780del, NC_000012.11:g.77264769_77264780del, NC_000012.11:g.77264770_77264780del, NC_000012.11:g.77264771_77264780del, NC_000012.11:g.77264772_77264780del, NC_000012.11:g.77264773_77264780del, NC_000012.11:g.77264774_77264780del, NC_000012.11:g.77264775_77264780del, NC_000012.11:g.77264776_77264780del, NC_000012.11:g.77264777_77264780del, NC_000012.11:g.77264778_77264780del, NC_000012.11:g.77264779_77264780del, NC_000012.11:g.77264780del, NC_000012.11:g.77264780dup, NC_000012.11:g.77264779_77264780dup, NC_000012.11:g.77264778_77264780dup, NC_000012.11:g.77264777_77264780dup, NC_000012.11:g.77264776_77264780dup, NC_000012.11:g.77264775_77264780dup, NC_000012.11:g.77264774_77264780dup, NC_000012.11:g.77264773_77264780dup, NC_000012.11:g.77264771_77264780dup, NC_000012.11:g.77264768_77264780dup, NC_000012.11:g.77264763_77264780dup
                      11.

                      rs1491298169 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->GCACAC
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491212854 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->TA,TAA,TTA,TTTA [Show Flanks]
                          Chromosome:
                          12:76861381 (GRCh38)
                          12:77255162 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:76861381::TA,NC_000012.12:76861381::TAA,NC_000012.12:76861381::TTA,NC_000012.12:76861381::TTTA
                          Gene:
                          CSRP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TAA=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491122023 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->A,ATA,ATATA,ATATATA,G [Show Flanks]
                            Chromosome:
                            12:76861367 (GRCh38)
                            12:77255148 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:76861367::A,NC_000012.12:76861367::ATA,NC_000012.12:76861367::ATATA,NC_000012.12:76861367::ATATATA,NC_000012.12:76861367::G
                            Gene:
                            CSRP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATA=0./0 (ALFA)
                            ATATATA=0.000008/2 (TOPMED)
                            A=0.004105/69 (TOMMO)
                            A=0.008909/16 (Korea1K)
                            A=0.015094/8 (NorthernSweden)
                            HGVS:
                            14.

                            rs1491107613 has merged into rs57542492 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                              Chromosome:
                              12:76869548 (GRCh38)
                              12:77263328 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                              Gene:
                              CSRP2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACACACACACACACAC=0./0 (ALFA)
                              HGVS:
                              NC_000012.12:g.76869530AC[9], NC_000012.12:g.76869530AC[10], NC_000012.12:g.76869530AC[11], NC_000012.12:g.76869530AC[12], NC_000012.12:g.76869530AC[13], NC_000012.12:g.76869530AC[14], NC_000012.12:g.76869530AC[15], NC_000012.12:g.76869530AC[16], NC_000012.12:g.76869530AC[17], NC_000012.12:g.76869530AC[18], NC_000012.12:g.76869530AC[19], NC_000012.12:g.76869530AC[20], NC_000012.12:g.76869530AC[21], NC_000012.12:g.76869530AC[22], NC_000012.12:g.76869530AC[23], NC_000012.12:g.76869530AC[24], NC_000012.12:g.76869530AC[26], NC_000012.12:g.76869530AC[27], NC_000012.12:g.76869530AC[28], NC_000012.12:g.76869530AC[29], NC_000012.12:g.76869530AC[30], NC_000012.12:g.76869530AC[31], NC_000012.12:g.76869530AC[32], NC_000012.12:g.76869530AC[33], NC_000012.12:g.76869530AC[34], NC_000012.12:g.76869530AC[35], NC_000012.12:g.76869530AC[36], NC_000012.12:g.76869530AC[37], NC_000012.12:g.76869530AC[38], NC_000012.12:g.76869530AC[39], NC_000012.12:g.76869530AC[40], NC_000012.12:g.76869530AC[41], NC_000012.12:g.76869530AC[42], NC_000012.12:g.76869530AC[43], NC_000012.12:g.76869530AC[44], NC_000012.12:g.76869530AC[47], NC_000012.12:g.76869530AC[49], NC_000012.11:g.77263310AC[9], NC_000012.11:g.77263310AC[10], NC_000012.11:g.77263310AC[11], NC_000012.11:g.77263310AC[12], NC_000012.11:g.77263310AC[13], NC_000012.11:g.77263310AC[14], NC_000012.11:g.77263310AC[15], NC_000012.11:g.77263310AC[16], NC_000012.11:g.77263310AC[17], NC_000012.11:g.77263310AC[18], NC_000012.11:g.77263310AC[19], NC_000012.11:g.77263310AC[20], NC_000012.11:g.77263310AC[21], NC_000012.11:g.77263310AC[22], NC_000012.11:g.77263310AC[23], NC_000012.11:g.77263310AC[24], NC_000012.11:g.77263310AC[26], NC_000012.11:g.77263310AC[27], NC_000012.11:g.77263310AC[28], NC_000012.11:g.77263310AC[29], NC_000012.11:g.77263310AC[30], NC_000012.11:g.77263310AC[31], NC_000012.11:g.77263310AC[32], NC_000012.11:g.77263310AC[33], NC_000012.11:g.77263310AC[34], NC_000012.11:g.77263310AC[35], NC_000012.11:g.77263310AC[36], NC_000012.11:g.77263310AC[37], NC_000012.11:g.77263310AC[38], NC_000012.11:g.77263310AC[39], NC_000012.11:g.77263310AC[40], NC_000012.11:g.77263310AC[41], NC_000012.11:g.77263310AC[42], NC_000012.11:g.77263310AC[43], NC_000012.11:g.77263310AC[44], NC_000012.11:g.77263310AC[47], NC_000012.11:g.77263310AC[49]
                              15.

                              rs1490764046 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:76872041 (GRCh38)
                                12:77265821 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:76872040:T:C
                                Gene:
                                CSRP2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490759807 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:76862893 (GRCh38)
                                  12:77256673 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:76862892:T:C
                                  Gene:
                                  CSRP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  17.

                                  rs1490590229 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    12:76874262 (GRCh38)
                                    12:77268042 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:76874261:T:A,NC_000012.12:76874261:T:G
                                    Gene:
                                    CSRP2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490488072 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      12:76866636 (GRCh38)
                                      12:77260416 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:76866635:A:C
                                      Gene:
                                      CSRP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490071025 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:76874325 (GRCh38)
                                        12:77268105 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:76874324:G:A
                                        Gene:
                                        CSRP2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489926439 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:76859683 (GRCh38)
                                          12:77253463 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:76859682:C:G
                                          Gene:
                                          CSRP2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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