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Items: 1 to 20 of 4404

1.

rs1490968770 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:84182072 (GRCh38)
    16:84215678 (GRCh37)
    Canonical SPDI:
    NC_000016.10:84182071:T:C
    Gene:
    TAF1C (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1490748419 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      16:84180809 (GRCh38)
      16:84214415 (GRCh37)
      Canonical SPDI:
      NC_000016.10:84180808:C:G
      Gene:
      TAF1C (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      3.

      rs1490692273 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        16:84179242 (GRCh38)
        16:84212848 (GRCh37)
        Canonical SPDI:
        NC_000016.10:84179241:T:C
        Gene:
        TAF1C (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000005/1 (GnomAD_exomes)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000016.10:g.84179242T>C, NC_000016.9:g.84212848T>C, NG_021174.2:g.38936T>C, NG_021174.1:g.38984T>C, XM_006721325.4:c.2312A>G, XM_006721325.3:c.2312A>G, XM_006721325.2:c.2312A>G, XM_006721325.1:c.2312A>G, NM_005679.4:c.2309A>G, NM_005679.3:c.2309A>G, XM_006721326.4:c.2234A>G, XM_006721326.3:c.2234A>G, XM_006721326.2:c.2234A>G, XM_006721326.1:c.2234A>G, XM_005256226.4:c.2309A>G, XM_005256226.3:c.2309A>G, XM_005256226.2:c.2309A>G, XM_005256226.1:c.2309A>G, XM_005256227.4:c.2108A>G, XM_005256227.3:c.2108A>G, XM_005256227.2:c.2108A>G, XM_005256227.1:c.2108A>G, NM_139353.3:c.2027A>G, NM_139353.2:c.2027A>G, NM_001243156.2:c.2231A>G, NM_001243156.1:c.2231A>G, NM_001243159.2:c.1082A>G, NM_001243159.1:c.1082A>G, XM_017023845.2:c.2231A>G, XM_017023845.1:c.2231A>G, XM_017023847.2:c.2030A>G, XM_017023847.1:c.2030A>G, NM_001243160.2:c.878A>G, NM_001243160.1:c.878A>G, NM_001243157.2:c.1313A>G, NM_001243157.1:c.1313A>G, NM_001243158.2:c.1313A>G, NM_001243158.1:c.1313A>G, XP_006721388.1:p.Glu771Gly, NP_005670.4:p.Glu770Gly, XP_006721389.1:p.Glu745Gly, XP_005256283.1:p.Glu770Gly, XP_005256284.1:p.Glu703Gly, NP_647610.3:p.Glu676Gly, NP_001230085.2:p.Glu744Gly, NP_001230088.1:p.Glu361Gly, XP_016879334.1:p.Glu744Gly, XP_016879336.1:p.Glu677Gly, NP_001230089.1:p.Glu293Gly, NP_001230086.1:p.Glu438Gly, NP_001230087.1:p.Glu438Gly
        4.

        rs1490591612 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:84185247 (GRCh38)
          16:84218853 (GRCh37)
          Canonical SPDI:
          NC_000016.10:84185246:C:T
          Gene:
          TAF1C (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490520213 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:84186781 (GRCh38)
            16:84220387 (GRCh37)
            Canonical SPDI:
            NC_000016.10:84186780:T:C
            Gene:
            TAF1C (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0./0 (KOREAN)
            C=0.00005/7 (GnomAD)
            C=0.00006/16 (TOPMED)
            T=0.5/2 (SGDP_PRJ)
            HGVS:
            6.

            rs1490313644 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:84182173 (GRCh38)
              16:84215779 (GRCh37)
              Canonical SPDI:
              NC_000016.10:84182172:G:A
              Gene:
              TAF1C (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1490102365 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                16:84184348 (GRCh38)
                16:84217954 (GRCh37)
                Canonical SPDI:
                NC_000016.10:84184347:T:C,NC_000016.10:84184347:T:G
                Gene:
                TAF1C (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000023/6 (TOPMED)
                HGVS:
                9.

                rs1490028739 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:84185983 (GRCh38)
                  16:84219589 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:84185982:A:G
                  Gene:
                  TAF1C (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  12.

                  rs1489686782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:84185271 (GRCh38)
                    16:84218877 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:84185270:C:T
                    Gene:
                    TAF1C (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    13.

                    rs1489636301 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:84184198 (GRCh38)
                      16:84217804 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:84184197:A:G
                      Gene:
                      TAF1C (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      15.

                      rs1489430984 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:84182093 (GRCh38)
                        16:84215699 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:84182092:T:C
                        Gene:
                        TAF1C (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        16.

                        rs1489426242 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          16:84183616 (GRCh38)
                          16:84217222 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:84183615:A:T
                          Gene:
                          TAF1C (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          17.

                          rs1489321967 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:84180012 (GRCh38)
                            16:84213618 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:84180011:C:T
                            Gene:
                            TAF1C (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000016.10:g.84180012C>T, NC_000016.9:g.84213618C>T, XM_006721325.4:c.1636G>A, XM_006721325.3:c.1636G>A, XM_006721325.2:c.1636G>A, XM_006721325.1:c.1636G>A, NM_005679.4:c.1633G>A, NM_005679.3:c.1633G>A, XM_006721326.4:c.1558G>A, XM_006721326.3:c.1558G>A, XM_006721326.2:c.1558G>A, XM_006721326.1:c.1558G>A, XM_005256226.4:c.1633G>A, XM_005256226.3:c.1633G>A, XM_005256226.2:c.1633G>A, XM_005256226.1:c.1633G>A, XM_005256227.4:c.1432G>A, XM_005256227.3:c.1432G>A, XM_005256227.2:c.1432G>A, XM_005256227.1:c.1432G>A, NM_139353.3:c.1351G>A, NM_139353.2:c.1351G>A, NM_001243156.2:c.1555G>A, NM_001243156.1:c.1555G>A, NM_001243159.2:c.406G>A, NM_001243159.1:c.406G>A, XM_017023845.2:c.1555G>A, XM_017023845.1:c.1555G>A, XM_017023847.2:c.1354G>A, XM_017023847.1:c.1354G>A, NM_001243160.2:c.202G>A, NM_001243160.1:c.202G>A, NM_001243157.2:c.637G>A, NM_001243157.1:c.637G>A, NM_001243158.2:c.637G>A, NM_001243158.1:c.637G>A, XP_006721388.1:p.Ala546Thr, NP_005670.4:p.Ala545Thr, XP_006721389.1:p.Ala520Thr, XP_005256283.1:p.Ala545Thr, XP_005256284.1:p.Ala478Thr, NP_647610.3:p.Ala451Thr, NP_001230085.2:p.Ala519Thr, NP_001230088.1:p.Ala136Thr, XP_016879334.1:p.Ala519Thr, XP_016879336.1:p.Ala452Thr, NP_001230089.1:p.Ala68Thr, NP_001230086.1:p.Ala213Thr, NP_001230087.1:p.Ala213Thr
                            18.

                            rs1489284058 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              16:84185274 (GRCh38)
                              16:84218880 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:84185273:C:A
                              Gene:
                              TAF1C (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000224/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000223/1 (Estonian)
                              HGVS:
                              19.

                              rs1489167167 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:84182468 (GRCh38)
                                16:84216074 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:84182467:C:T
                                Gene:
                                TAF1C (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                20.

                                rs1488960171 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  16:84187790 (GRCh38)
                                  16:84221396 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:84187789:A:G
                                  Gene:
                                  TAF1C (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:

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