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Items: 1 to 20 of 103971

1.

rs1049181 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    15:80186247 (GRCh38)
    15:80478589 (GRCh37)
    Canonical SPDI:
    NC_000015.10:80186246:A:C
    Gene:
    FAH (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by cluster
    MAF:
    A=0./0 (SGDP_PRJ)
    C=0.0027/5 (Korea1K)
    C=0.1124/563 (1000Genomes)
    A=0.5/1 (Siberian)
    HGVS:
    2.

    rs3210172 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:80186249 (GRCh38)
      15:80478591 (GRCh37)
      Canonical SPDI:
      NC_000015.10:80186248:C:T
      Gene:
      FAH (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000008/2 (GnomAD_exomes)
      T=0.000011/1 (ExAC)
      T=0.11242/563 (1000Genomes)
      C=0.5/1 (Siberian)
      HGVS:
      3.

      rs3833768 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C,CA,CAA,CAATA [Show Flanks]
        Chromosome:
        11:119300340 (GRCh38)
        11:119171051 (GRCh37)
        Canonical SPDI:
        NC_000011.10:119300340::C,NC_000011.10:119300340::CA,NC_000011.10:119300340::CAA,NC_000011.10:119300340::CAATA
        Gene:
        CBL (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Clinical significance:
        likely-benign,uncertain-significance
        Validated:
        by frequency,by cluster
        MAF:
        C=0.2067/124 (NorthernSweden)
        CA=0.2304/1154 (1000Genomes)
        C=0.25/10 (GENOME_DK)
        C=0.2551/1143 (Estonian)
        C=0.4034/739 (Korea1K)
        HGVS:
        4.

        rs4149158 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TTTA>- [Show Flanks]
          Chromosome:
          12:20815732 (GRCh38)
          12:20968666 (GRCh37)
          Canonical SPDI:
          NC_000012.12:20815731:TTTA:
          Gene:
          SLCO1B3 (Varview), SLCO1B3-SLCO1B7 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.156561/1384 (ALFA)
          -=0.141509/30 (Vietnamese)
          -=0.15356/31904 (GnomAD_exomes)
          -=0.162842/298 (Korea1K)
          -=0.184105/922 (1000Genomes)
          -=0.219894/25695 (ExAC)
          -=0.230683/7189 (GnomAD)
          -=0.266667/160 (NorthernSweden)
          -=0.275/11 (GENOME_DK)
          -=0.285268/1278 (Estonian)
          HGVS:
          5.

          rs5871740 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G,GAG,GTCG,TCG [Show Flanks]
            Chromosome:
            5:140552044 (GRCh38)
            5:139931630 (GRCh37)
            Canonical SPDI:
            NC_000005.10:140552044::G,NC_000005.10:140552044::GAG,NC_000005.10:140552044::GTCG,NC_000005.10:140552044::TCG
            Gene:
            SRA1 (Varview)
            Functional Consequence:
            intron_variant,inframe_insertion,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by cluster
            MAF:
            G=0.37563/11344 (GnomAD)
            G=0.38833/233 (NorthernSweden)
            G=0.39687/1778 (Estonian)
            -=0.40175/736 (Korea1K)
            G=0.43411/2174 (1000Genomes)
            HGVS:
            NC_000005.10:g.140552044_140552045insG, NC_000005.10:g.140552044_140552045insGAG, NC_000005.10:g.140552044_140552045insGTCG, NC_000005.10:g.140552044_140552045insTCG, NC_000005.9:g.139931629_139931630insG, NC_000005.9:g.139931629_139931630insGAG, NC_000005.9:g.139931629_139931630insGTCG, NC_000005.9:g.139931629_139931630insTCG, NG_031847.1:g.11049_11050insC, NG_031847.1:g.11049_11050insCTC, NG_031847.1:g.11049_11050insCGAC, NG_031847.1:g.11049_11050insCGA, NM_001035235.3:c.327_328insC, NM_001035235.3:c.327_328insCTC, NM_001035235.3:c.327_328insCGAC, NM_001035235.3:c.327_328insCGA, NR_045586.1:n.992_993insC, NR_045586.1:n.992_993insCTC, NR_045586.1:n.992_993insCGAC, NR_045586.1:n.992_993insCGA, NR_045587.1:n.450_451insC, NR_045587.1:n.450_451insCTC, NR_045587.1:n.450_451insCGAC, NR_045587.1:n.450_451insCGA, NP_001030312.2:p.Val110fs, NP_001030312.2:p.Val110_Met111insLeu, NP_001030312.2:p.Val110fs, NP_001030312.2:p.Val110_Met111insArg
            6.

            rs10628712 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->GG,GGA [Show Flanks]
              Chromosome:
              1:237794327 (GRCh38)
              1:237957628 (GRCh37)
              Canonical SPDI:
              NC_000001.11:237794327::GG,NC_000001.11:237794327::GGA
              Gene:
              RYR2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by cluster
              MAF:
              -=0.24667/148 (NorthernSweden)
              -=0.25/10 (GENOME_DK)
              -=0.2522/1263 (1000Genomes)
              -=0.27557/1234 (Estonian)
              -=0.33198/1231 (TWINSUK)
              -=0.33336/10064 (GnomAD)
              -=0.33861/1305 (ALSPAC)
              HGVS:
              7.

              rs11480415 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,AA,AAA [Show Flanks]
                Chromosome:
                20:50935242 (GRCh38)
                20:49551780 (GRCh37)
                Canonical SPDI:
                NC_000020.11:50935242::A,NC_000020.11:50935242::AA,NC_000020.11:50935242::AAA
                Gene:
                DPM1 (Varview), ADNP-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Clinical significance:
                benign,benign-likely-benign,likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.0296/265 (ALFA)
                AA=0.0262/131 (1000Genomes)
                A=0.0336/20 (NorthernSweden)
                HGVS:
                8.

                rs11575897 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  Y:2787139 (GRCh38)
                  Y:2655180 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:2787138:G:A
                  Gene:
                  SRY (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.03763/1783 (ALFA)
                  A=0./0 (Daghestan)
                  G=0./0 (SGDP_PRJ)
                  A=0.00223/2 (ChromosomeY)
                  A=0.00521/321 (GnomAD_exomes)
                  A=0.00865/186 (ExAC)
                  A=0.01784/22 (1000Genomes)
                  A=0.34571/484 (KOREAN)
                  HGVS:
                  9.

                  rs55820479 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    GA>- [Show Flanks]
                    Chromosome:
                    17:43112724 (GRCh38)
                    17:41264741 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43112723:GA:
                    Gene:
                    BRCA1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by cluster
                    MAF:
                    -=0.26756/160 (NorthernSweden)
                    -=0.31878/584 (Korea1K)
                    -=0.325/13 (GENOME_DK)
                    -=0.4368/13547 (GnomAD)
                    -=0.49481/2478 (1000Genomes)
                    HGVS:
                    10.

                    rs55894244 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TT,TTT,TTTT [Show Flanks]
                      Chromosome:
                      8:15766099 (GRCh38)
                      8:15623609 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:15766099::TT,NC_000008.11:15766099::TTT,NC_000008.11:15766099::TTTT
                      Gene:
                      TUSC3 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by cluster
                      MAF:
                      TT=0.02293/42 (Korea1K)
                      TT=0.05189/11 (Vietnamese)
                      TT=0.11482/575 (1000Genomes)
                      TT=0.125/1 (KOREAN)
                      TT=0.22645/7067 (GnomAD)
                      TT=0.26833/161 (NorthernSweden)
                      TT=0.29969/1155 (ALSPAC)
                      TT=0.31715/1176 (TWINSUK)
                      TT=0.33437/1498 (Estonian)
                      TT=0.475/19 (GENOME_DK)
                      HGVS:
                      11.

                      rs56102017 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C,CA,GCACA,GCATGGCGCA,GGCATGGCGCA [Show Flanks]
                        Chromosome:
                        4:6291031 (GRCh38)
                        4:6292759 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:6291031::C,NC_000004.12:6291031::CA,NC_000004.12:6291031::GCACA,NC_000004.12:6291031::GCATGGCGCA,NC_000004.12:6291031::GGCATGGCGCA
                        Gene:
                        WFS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.2877/1441 (1000Genomes)
                        -=0.4166/1863 (Estonian)
                        -=0.4367/262 (NorthernSweden)
                        HGVS:
                        12.

                        rs56722042 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->AAT,AT,T [Show Flanks]
                          Chromosome:
                          11:119300341 (GRCh38)
                          11:119171052 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:119300341::AAT,NC_000011.10:119300341::AT,NC_000011.10:119300341::T
                          Gene:
                          CBL (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          AT=0.20667/124 (NorthernSweden)
                          T=0.23043/1154 (1000Genomes)
                          AT=0.24009/7379 (GnomAD)
                          AAT=0.24919/924 (TWINSUK)
                          AT=0.25/10 (GENOME_DK)
                          AAT=0.25039/965 (ALSPAC)
                          AT=0.25513/1143 (Estonian)
                          AT=0.40338/739 (Korea1K)
                          HGVS:
                          13.

                          rs60451214 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CTGT,GT [Show Flanks]
                            Chromosome:
                            7:148409385 (GRCh38)
                            7:148106478 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:148409385:T:TCTGT,NC_000007.14:148409385:T:TGT
                            Gene:
                            CNTNAP2 (Varview), LOC105375554 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                            Clinical significance:
                            uncertain-significance,benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TGT=0.347306/2585 (ALFA)
                            -=0.349554/1566 (Estonian)
                            -=0.413266/12517 (GnomAD)
                            -=0.425/17 (GENOME_DK)
                            -=0.431667/259 (NorthernSweden)
                            -=0.452077/2264 (1000Genomes)
                            -=0.485718/56218 (ExAC)
                            HGVS:
                            14.

                            rs61946965 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              13:32353471 (GRCh38)
                              13:32927608 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:32353470:A:G,NC_000013.11:32353470:A:T
                              Gene:
                              BRCA2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.0038/11 (KOREAN)
                              G=0.2422/1213 (1000Genomes)
                              HGVS:
                              15.

                              rs72268642 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TT,TTAT,TTGT,TTTT [Show Flanks]
                                Chromosome:
                                7:148409383 (GRCh38)
                                7:148106476 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:148409383:T:TTT,NC_000007.14:148409383:T:TTTAT,NC_000007.14:148409383:T:TTTGT,NC_000007.14:148409383:T:TTTTT
                                Gene:
                                CNTNAP2 (Varview), LOC105375554 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTT=0.399471/6040 (ALFA)
                                TT=0.293035/59553 (GnomAD_exomes)
                                -=0.349777/1567 (Estonian)
                                -=0.42083/12906 (GnomAD)
                                -=0.425/17 (GENOME_DK)
                                -=0.431667/259 (NorthernSweden)
                                -=0.452077/2264 (1000Genomes)
                                HGVS:
                                16.

                                rs76193255 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:12793948 (GRCh38)
                                  1:12854097 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:12793947:T:C
                                  Gene:
                                  PRAMEF1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.294124/2643 (ALFA)
                                  C=0.039326/21 (MGP)
                                  C=0.327476/1640 (1000Genomes)
                                  C=0.435185/94 (Qatari)
                                  C=0.476489/56767 (ExAC)
                                  C=0.484983/1421 (KOREAN)
                                  T=0.497778/224 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs104895062 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    12:913070 (GRCh38)
                                    12:1022236 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:913069:G:A,NC_000012.12:913069:G:T
                                    Gene:
                                    RAD52 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Clinical significance:
                                    not-provided
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.3974/1990 (1000Genomes)
                                    HGVS:
                                    NC_000012.12:g.913070G>A, NC_000012.12:g.913070G>T, NC_000012.11:g.1022236G>A, NC_000012.11:g.1022236G>T, NG_007984.3:g.165012G>A, NG_007984.3:g.165012G>T, NG_017078.2:g.81972C>T, NG_017078.2:g.81972C>A, NM_134424.4:c.*321C>T, NM_134424.4:c.*321C>A, NM_134424.3:c.*321C>T, NM_134424.3:c.*321C>A, NM_134424.2:c.*321C>T, NM_134424.2:c.*321C>A, NR_123713.1:n.1999C>T, NR_123713.1:n.1999C>A, NM_001297419.1:c.*321C>T, NM_001297419.1:c.*321C>A, NM_001297421.1:c.*321C>T, NM_001297421.1:c.*321C>A, XM_005253720.5:c.*321C>T, XM_005253720.5:c.*321C>A, XM_005253720.1:c.*321C>T, XM_005253720.1:c.*321C>A, XM_011520995.3:c.*321C>T, XM_011520995.3:c.*321C>A, XR_931522.2:n.1740C>T, XR_931522.2:n.1740C>A, XM_011520990.2:c.*321C>T, XM_011520990.2:c.*321C>A, XR_001748838.2:n.1819C>T, XR_001748838.2:n.1819C>A, XM_005253721.2:c.*321C>T, XM_005253721.2:c.*321C>A, XM_005253721.1:c.*321C>T, XM_005253721.1:c.*321C>A, XM_011520991.2:c.*321C>T, XM_011520991.2:c.*321C>A, XM_017019769.1:c.*321C>T, XM_017019769.1:c.*321C>A, XR_001748836.1:n.1720C>T, XR_001748836.1:n.1720C>A, XR_001748839.1:n.1717C>T, XR_001748839.1:n.1717C>A, XR_001748837.1:n.1717C>T, XR_001748837.1:n.1717C>A, XM_017019770.1:c.*321C>T, XM_017019770.1:c.*321C>A
                                    18.

                                    rs104895063 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      12:913071 (GRCh38)
                                      12:1022237 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:913070:G:C,NC_000012.12:913070:G:T
                                      Gene:
                                      RAD52 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Clinical significance:
                                      not-provided
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.3974/1990 (1000Genomes)
                                      HGVS:
                                      NC_000012.12:g.913071G>C, NC_000012.12:g.913071G>T, NC_000012.11:g.1022237G>C, NC_000012.11:g.1022237G>T, NG_007984.3:g.165013G>C, NG_007984.3:g.165013G>T, NG_017078.2:g.81971C>G, NG_017078.2:g.81971C>A, NM_134424.4:c.*320C>G, NM_134424.4:c.*320C>A, NM_134424.3:c.*320C>G, NM_134424.3:c.*320C>A, NM_134424.2:c.*320C>G, NM_134424.2:c.*320C>A, NR_123713.1:n.1998C>G, NR_123713.1:n.1998C>A, NM_001297419.1:c.*320C>G, NM_001297419.1:c.*320C>A, NM_001297421.1:c.*320C>G, NM_001297421.1:c.*320C>A, XM_005253720.5:c.*320C>G, XM_005253720.5:c.*320C>A, XM_005253720.1:c.*320C>G, XM_005253720.1:c.*320C>A, XM_011520995.3:c.*320C>G, XM_011520995.3:c.*320C>A, XR_931522.2:n.1739C>G, XR_931522.2:n.1739C>A, XM_011520990.2:c.*320C>G, XM_011520990.2:c.*320C>A, XR_001748838.2:n.1818C>G, XR_001748838.2:n.1818C>A, XM_005253721.2:c.*320C>G, XM_005253721.2:c.*320C>A, XM_005253721.1:c.*320C>G, XM_005253721.1:c.*320C>A, XM_011520991.2:c.*320C>G, XM_011520991.2:c.*320C>A, XM_017019769.1:c.*320C>G, XM_017019769.1:c.*320C>A, XR_001748836.1:n.1719C>G, XR_001748836.1:n.1719C>A, XR_001748839.1:n.1716C>G, XR_001748839.1:n.1716C>A, XR_001748837.1:n.1716C>G, XR_001748837.1:n.1716C>A, XM_017019770.1:c.*320C>G, XM_017019770.1:c.*320C>A
                                      19.

                                      rs111622470 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        21:43057954 (GRCh38)
                                        21:44478064 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:43057953:C:G,NC_000021.9:43057953:C:T
                                        Gene:
                                        CBS (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.01166/34 (KOREAN)
                                        T=0.01389/3 (Qatari)
                                        T=0.01474/420 (GnomAD)
                                        T=0.02017/101 (1000Genomes)
                                        C=0.5/4 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs111974433 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->ACT,CCT,TCCT [Show Flanks]
                                          Chromosome:
                                          6:116792602 (GRCh38)
                                          6:117113766 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:116792602:T:TACT,NC_000006.12:116792602:T:TCCT,NC_000006.12:116792602:T:TTCCT
                                          Gene:
                                          GPRC6A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,inframe_insertion,frameshift_variant
                                          Clinical significance:
                                          benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCCT=0.030272/269 (ALFA)
                                          TCC=0.009772/6 (Vietnamese)
                                          TCC=0.025/1 (GENOME_DK)
                                          TCC=0.046394/10048 (GnomAD_exomes)
                                          TCC=0.05692/255 (Estonian)
                                          TCC=0.06/36 (NorthernSweden)
                                          TCC=0.154445/4819 (GnomAD)
                                          TCC=0.159345/798 (1000Genomes)
                                          HGVS:
                                          NC_000006.12:g.116792603_116792604insACT, NC_000006.12:g.116792603_116792604insCCT, NC_000006.12:g.116792603_116792604insTCCT, NC_000006.11:g.117113766_117113767insACT, NC_000006.11:g.117113766_117113767insCCT, NC_000006.11:g.117113766_117113767insTCCT, NM_148963.3:c.2320_2321insGTA, NM_148963.3:c.2320_2321insGGA, NM_148963.3:c.2320_2321insGGAA, NM_148963.4:c.2320_2321insGTA, NM_148963.4:c.2320_2321insGGA, NM_148963.4:c.2320_2321insGGAA, NM_148963.2:c.2320_2321insGTA, NM_148963.2:c.2320_2321insGGA, NM_148963.2:c.2320_2321insGGAA, XM_017010475.1:c.2179_2180insGTA, XM_017010475.1:c.2179_2180insGGA, XM_017010475.1:c.2179_2180insGGAA, NM_001286355.1:c.2107_2108insGTA, NM_001286355.1:c.2107_2108insGGA, NM_001286355.1:c.2107_2108insGGAA, NM_001286354.1:c.1795_1796insGTA, NM_001286354.1:c.1795_1796insGGA, NM_001286354.1:c.1795_1796insGGAA, NP_683766.2:p.Lys774_Tyr775insSer, NP_683766.2:p.Lys774_Tyr775insArg, NP_683766.2:p.Lys774fs, XP_016865964.1:p.Lys727_Tyr728insSer, XP_016865964.1:p.Lys727_Tyr728insArg, XP_016865964.1:p.Lys727fs, NP_001273284.1:p.Lys703_Tyr704insSer, NP_001273284.1:p.Lys703_Tyr704insArg, NP_001273284.1:p.Lys703fs, NP_001273283.1:p.Lys599_Tyr600insSer, NP_001273283.1:p.Lys599_Tyr600insArg, NP_001273283.1:p.Lys599fs

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