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Items: 1 to 20 of 1268

1.

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

    2.

    rs1490298402 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:84183293 (GRCh38)
      16:84216899 (GRCh37)
      Canonical SPDI:
      NC_000016.10:84183292:G:A
      Gene:
      TAF1C (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.84183293G>A, NC_000016.9:g.84216899G>A, XM_006721325.4:c.362C>T, XM_006721325.3:c.362C>T, XM_006721325.2:c.362C>T, XM_006721325.1:c.362C>T, NM_005679.4:c.359C>T, NM_005679.3:c.359C>T, XM_006721326.4:c.362C>T, XM_006721326.3:c.362C>T, XM_006721326.2:c.362C>T, XM_006721326.1:c.362C>T, XM_005256226.4:c.359C>T, XM_005256226.3:c.359C>T, XM_005256226.2:c.359C>T, XM_005256226.1:c.359C>T, XM_005256227.4:c.158C>T, XM_005256227.3:c.158C>T, XM_005256227.2:c.158C>T, XM_005256227.1:c.158C>T, NM_139353.3:c.158C>T, NM_139353.2:c.158C>T, NM_001243156.2:c.359C>T, NM_001243156.1:c.359C>T, NM_001243159.2:c.-919C>T, NM_001243159.1:c.-919C>T, XM_017023845.2:c.359C>T, XM_017023845.1:c.359C>T, XM_017023847.2:c.158C>T, XM_017023847.1:c.158C>T, NM_001243160.2:c.-1104C>T, NM_001243160.1:c.-1104C>T, NM_001243157.2:c.-486C>T, NM_001243157.1:c.-486C>T, XP_006721388.1:p.Ala121Val, NP_005670.4:p.Ala120Val, XP_006721389.1:p.Ala121Val, XP_005256283.1:p.Ala120Val, XP_005256284.1:p.Ala53Val, NP_647610.3:p.Ala53Val, NP_001230085.2:p.Ala120Val, XP_016879334.1:p.Ala120Val, XP_016879336.1:p.Ala53Val

      3.

      rs1489835608 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:84182429 (GRCh38)
        16:84216035 (GRCh37)
        Canonical SPDI:
        NC_000016.10:84182428:G:A
        Gene:
        TAF1C (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,missense_variant
        HGVS:
        NC_000016.10:g.84182429G>A, NC_000016.9:g.84216035G>A, XM_006721325.4:c.497C>T, XM_006721325.3:c.497C>T, XM_006721325.2:c.497C>T, XM_006721325.1:c.497C>T, NM_005679.4:c.494C>T, NM_005679.3:c.494C>T, XM_006721326.4:c.497C>T, XM_006721326.3:c.497C>T, XM_006721326.2:c.497C>T, XM_006721326.1:c.497C>T, XM_005256226.4:c.494C>T, XM_005256226.3:c.494C>T, XM_005256226.2:c.494C>T, XM_005256226.1:c.494C>T, XM_005256227.4:c.293C>T, XM_005256227.3:c.293C>T, XM_005256227.2:c.293C>T, XM_005256227.1:c.293C>T, NM_139353.3:c.293C>T, NM_139353.2:c.293C>T, NM_001243156.2:c.494C>T, NM_001243156.1:c.494C>T, NM_001243159.2:c.-784C>T, NM_001243159.1:c.-784C>T, XM_017023845.2:c.494C>T, XM_017023845.1:c.494C>T, XM_017023847.2:c.293C>T, XM_017023847.1:c.293C>T, NM_001243160.2:c.-969C>T, NM_001243160.1:c.-969C>T, NM_001243157.2:c.-425C>T, NM_001243157.1:c.-425C>T, NM_001243158.2:c.-425C>T, NM_001243158.1:c.-425C>T, XP_006721388.1:p.Ala166Val, NP_005670.4:p.Ala165Val, XP_006721389.1:p.Ala166Val, XP_005256283.1:p.Ala165Val, XP_005256284.1:p.Ala98Val, NP_647610.3:p.Ala98Val, NP_001230085.2:p.Ala165Val, XP_016879334.1:p.Ala165Val, XP_016879336.1:p.Ala98Val

        4.

        rs1489732213 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:84181382 (GRCh38)
          16:84214988 (GRCh37)
          Canonical SPDI:
          NC_000016.10:84181381:G:A
          Gene:
          TAF1C (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000016.10:g.84181382G>A, NC_000016.9:g.84214988G>A, XM_006721325.4:c.1191C>T, XM_006721325.3:c.1191C>T, XM_006721325.2:c.1191C>T, XM_006721325.1:c.1191C>T, NM_005679.4:c.1188C>T, NM_005679.3:c.1188C>T, XM_006721326.4:c.1113C>T, XM_006721326.3:c.1113C>T, XM_006721326.2:c.1113C>T, XM_006721326.1:c.1113C>T, XM_005256226.4:c.1188C>T, XM_005256226.3:c.1188C>T, XM_005256226.2:c.1188C>T, XM_005256226.1:c.1188C>T, XM_005256227.4:c.987C>T, XM_005256227.3:c.987C>T, XM_005256227.2:c.987C>T, XM_005256227.1:c.987C>T, NM_139353.3:c.909C>T, NM_139353.2:c.909C>T, NM_001243156.2:c.1110C>T, NM_001243156.1:c.1110C>T, NM_001243159.2:c.-40C>T, NM_001243159.1:c.-40C>T, XM_017023845.2:c.1110C>T, XM_017023845.1:c.1110C>T, XM_017023847.2:c.909C>T, XM_017023847.1:c.909C>T, NM_001243160.2:c.-225C>T, NM_001243160.1:c.-225C>T, NM_001243157.2:c.192C>T, NM_001243157.1:c.192C>T, NM_001243158.2:c.192C>T, NM_001243158.1:c.192C>T

          5.

          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

            6.

            rs1487530361 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:84182230 (GRCh38)
              16:84215836 (GRCh37)
              Canonical SPDI:
              NC_000016.10:84182229:G:A
              Gene:
              TAF1C (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.84182230G>A, NC_000016.9:g.84215836G>A, XM_006721325.4:c.696C>T, XM_006721325.3:c.696C>T, XM_006721325.2:c.696C>T, XM_006721325.1:c.696C>T, NM_005679.4:c.693C>T, NM_005679.3:c.693C>T, XM_006721326.4:c.696C>T, XM_006721326.3:c.696C>T, XM_006721326.2:c.696C>T, XM_006721326.1:c.696C>T, XM_005256226.4:c.693C>T, XM_005256226.3:c.693C>T, XM_005256226.2:c.693C>T, XM_005256226.1:c.693C>T, XM_005256227.4:c.492C>T, XM_005256227.3:c.492C>T, XM_005256227.2:c.492C>T, XM_005256227.1:c.492C>T, NM_139353.3:c.492C>T, NM_139353.2:c.492C>T, NM_001243156.2:c.693C>T, NM_001243156.1:c.693C>T, NM_001243159.2:c.-585C>T, NM_001243159.1:c.-585C>T, XM_017023845.2:c.693C>T, XM_017023845.1:c.693C>T, XM_017023847.2:c.492C>T, XM_017023847.1:c.492C>T, NM_001243160.2:c.-770C>T, NM_001243160.1:c.-770C>T, NM_001243157.2:c.-226C>T, NM_001243157.1:c.-226C>T, NM_001243158.2:c.-226C>T, NM_001243158.1:c.-226C>T

              7.

              rs1487153657 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                16:84179125 (GRCh38)
                16:84212731 (GRCh37)
                Canonical SPDI:
                NC_000016.10:84179124:G:A,NC_000016.10:84179124:G:C
                Gene:
                TAF1C (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,stop_gained
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.84179125G>A, NC_000016.10:g.84179125G>C, NC_000016.9:g.84212731G>A, NC_000016.9:g.84212731G>C, NG_021174.2:g.38819G>A, NG_021174.2:g.38819G>C, NG_021174.1:g.38867G>A, NG_021174.1:g.38867G>C, XM_006721325.4:c.2429C>T, XM_006721325.4:c.2429C>G, XM_006721325.3:c.2429C>T, XM_006721325.3:c.2429C>G, XM_006721325.2:c.2429C>T, XM_006721325.2:c.2429C>G, XM_006721325.1:c.2429C>T, XM_006721325.1:c.2429C>G, NM_005679.4:c.2426C>T, NM_005679.4:c.2426C>G, NM_005679.3:c.2426C>T, NM_005679.3:c.2426C>G, XM_006721326.4:c.2351C>T, XM_006721326.4:c.2351C>G, XM_006721326.3:c.2351C>T, XM_006721326.3:c.2351C>G, XM_006721326.2:c.2351C>T, XM_006721326.2:c.2351C>G, XM_006721326.1:c.2351C>T, XM_006721326.1:c.2351C>G, XM_005256226.4:c.2426C>T, XM_005256226.4:c.2426C>G, XM_005256226.3:c.2426C>T, XM_005256226.3:c.2426C>G, XM_005256226.2:c.2426C>T, XM_005256226.2:c.2426C>G, XM_005256226.1:c.2426C>T, XM_005256226.1:c.2426C>G, XM_005256227.4:c.2225C>T, XM_005256227.4:c.2225C>G, XM_005256227.3:c.2225C>T, XM_005256227.3:c.2225C>G, XM_005256227.2:c.2225C>T, XM_005256227.2:c.2225C>G, XM_005256227.1:c.2225C>T, XM_005256227.1:c.2225C>G, NM_139353.3:c.2144C>T, NM_139353.3:c.2144C>G, NM_139353.2:c.2144C>T, NM_139353.2:c.2144C>G, NM_001243156.2:c.2348C>T, NM_001243156.2:c.2348C>G, NM_001243156.1:c.2348C>T, NM_001243156.1:c.2348C>G, NM_001243159.2:c.1199C>T, NM_001243159.2:c.1199C>G, NM_001243159.1:c.1199C>T, NM_001243159.1:c.1199C>G, XM_017023845.2:c.2348C>T, XM_017023845.2:c.2348C>G, XM_017023845.1:c.2348C>T, XM_017023845.1:c.2348C>G, XM_017023847.2:c.2147C>T, XM_017023847.2:c.2147C>G, XM_017023847.1:c.2147C>T, XM_017023847.1:c.2147C>G, NM_001243160.2:c.995C>T, NM_001243160.2:c.995C>G, NM_001243160.1:c.995C>T, NM_001243160.1:c.995C>G, NM_001243157.2:c.1430C>T, NM_001243157.2:c.1430C>G, NM_001243157.1:c.1430C>T, NM_001243157.1:c.1430C>G, NM_001243158.2:c.1430C>T, NM_001243158.2:c.1430C>G, NM_001243158.1:c.1430C>T, NM_001243158.1:c.1430C>G, XP_006721388.1:p.Ser810Leu, XP_006721388.1:p.Ser810Ter, NP_005670.4:p.Ser809Leu, NP_005670.4:p.Ser809Ter, XP_006721389.1:p.Ser784Leu, XP_006721389.1:p.Ser784Ter, XP_005256283.1:p.Ser809Leu, XP_005256283.1:p.Ser809Ter, XP_005256284.1:p.Ser742Leu, XP_005256284.1:p.Ser742Ter, NP_647610.3:p.Ser715Leu, NP_647610.3:p.Ser715Ter, NP_001230085.2:p.Ser783Leu, NP_001230085.2:p.Ser783Ter, NP_001230088.1:p.Ser400Leu, NP_001230088.1:p.Ser400Ter, XP_016879334.1:p.Ser783Leu, XP_016879334.1:p.Ser783Ter, XP_016879336.1:p.Ser716Leu, XP_016879336.1:p.Ser716Ter, NP_001230089.1:p.Ser332Leu, NP_001230089.1:p.Ser332Ter, NP_001230086.1:p.Ser477Leu, NP_001230086.1:p.Ser477Ter, NP_001230087.1:p.Ser477Leu, NP_001230087.1:p.Ser477Ter

                8.

                rs1486618951 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:84180318 (GRCh38)
                  16:84213924 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:84180317:G:A,NC_000016.10:84180317:G:C
                  Gene:
                  TAF1C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000016.10:g.84180318G>A, NC_000016.10:g.84180318G>C, NC_000016.9:g.84213924G>A, NC_000016.9:g.84213924G>C, XM_006721325.4:c.1416C>T, XM_006721325.4:c.1416C>G, XM_006721325.3:c.1416C>T, XM_006721325.3:c.1416C>G, XM_006721325.2:c.1416C>T, XM_006721325.2:c.1416C>G, XM_006721325.1:c.1416C>T, XM_006721325.1:c.1416C>G, NM_005679.4:c.1413C>T, NM_005679.4:c.1413C>G, NM_005679.3:c.1413C>T, NM_005679.3:c.1413C>G, XM_006721326.4:c.1338C>T, XM_006721326.4:c.1338C>G, XM_006721326.3:c.1338C>T, XM_006721326.3:c.1338C>G, XM_006721326.2:c.1338C>T, XM_006721326.2:c.1338C>G, XM_006721326.1:c.1338C>T, XM_006721326.1:c.1338C>G, XM_005256226.4:c.1413C>T, XM_005256226.4:c.1413C>G, XM_005256226.3:c.1413C>T, XM_005256226.3:c.1413C>G, XM_005256226.2:c.1413C>T, XM_005256226.2:c.1413C>G, XM_005256226.1:c.1413C>T, XM_005256226.1:c.1413C>G, XM_005256227.4:c.1212C>T, XM_005256227.4:c.1212C>G, XM_005256227.3:c.1212C>T, XM_005256227.3:c.1212C>G, XM_005256227.2:c.1212C>T, XM_005256227.2:c.1212C>G, XM_005256227.1:c.1212C>T, XM_005256227.1:c.1212C>G, NM_139353.3:c.1134C>T, NM_139353.3:c.1134C>G, NM_139353.2:c.1134C>T, NM_139353.2:c.1134C>G, NM_001243156.2:c.1335C>T, NM_001243156.2:c.1335C>G, NM_001243156.1:c.1335C>T, NM_001243156.1:c.1335C>G, NM_001243159.2:c.186C>T, NM_001243159.2:c.186C>G, NM_001243159.1:c.186C>T, NM_001243159.1:c.186C>G, XM_017023845.2:c.1335C>T, XM_017023845.2:c.1335C>G, XM_017023845.1:c.1335C>T, XM_017023845.1:c.1335C>G, XM_017023847.2:c.1134C>T, XM_017023847.2:c.1134C>G, XM_017023847.1:c.1134C>T, XM_017023847.1:c.1134C>G, NM_001243160.2:c.-16C>T, NM_001243160.2:c.-16C>G, NM_001243160.1:c.-16C>T, NM_001243160.1:c.-16C>G, NM_001243157.2:c.417C>T, NM_001243157.2:c.417C>G, NM_001243157.1:c.417C>T, NM_001243157.1:c.417C>G, NM_001243158.2:c.417C>T, NM_001243158.2:c.417C>G, NM_001243158.1:c.417C>T, NM_001243158.1:c.417C>G

                  9.

                  rs1485920276 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    16:84181398 (GRCh38)
                    16:84215004 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:84181397:G:A,NC_000016.10:84181397:G:T
                    Gene:
                    TAF1C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.84181398G>A, NC_000016.10:g.84181398G>T, NC_000016.9:g.84215004G>A, NC_000016.9:g.84215004G>T, XM_006721325.4:c.1175C>T, XM_006721325.4:c.1175C>A, XM_006721325.3:c.1175C>T, XM_006721325.3:c.1175C>A, XM_006721325.2:c.1175C>T, XM_006721325.2:c.1175C>A, XM_006721325.1:c.1175C>T, XM_006721325.1:c.1175C>A, NM_005679.4:c.1172C>T, NM_005679.4:c.1172C>A, NM_005679.3:c.1172C>T, NM_005679.3:c.1172C>A, XM_006721326.4:c.1097C>T, XM_006721326.4:c.1097C>A, XM_006721326.3:c.1097C>T, XM_006721326.3:c.1097C>A, XM_006721326.2:c.1097C>T, XM_006721326.2:c.1097C>A, XM_006721326.1:c.1097C>T, XM_006721326.1:c.1097C>A, XM_005256226.4:c.1172C>T, XM_005256226.4:c.1172C>A, XM_005256226.3:c.1172C>T, XM_005256226.3:c.1172C>A, XM_005256226.2:c.1172C>T, XM_005256226.2:c.1172C>A, XM_005256226.1:c.1172C>T, XM_005256226.1:c.1172C>A, XM_005256227.4:c.971C>T, XM_005256227.4:c.971C>A, XM_005256227.3:c.971C>T, XM_005256227.3:c.971C>A, XM_005256227.2:c.971C>T, XM_005256227.2:c.971C>A, XM_005256227.1:c.971C>T, XM_005256227.1:c.971C>A, NM_139353.3:c.893C>T, NM_139353.3:c.893C>A, NM_139353.2:c.893C>T, NM_139353.2:c.893C>A, NM_001243156.2:c.1094C>T, NM_001243156.2:c.1094C>A, NM_001243156.1:c.1094C>T, NM_001243156.1:c.1094C>A, NM_001243159.2:c.-56C>T, NM_001243159.2:c.-56C>A, NM_001243159.1:c.-56C>T, NM_001243159.1:c.-56C>A, XM_017023845.2:c.1094C>T, XM_017023845.2:c.1094C>A, XM_017023845.1:c.1094C>T, XM_017023845.1:c.1094C>A, XM_017023847.2:c.893C>T, XM_017023847.2:c.893C>A, XM_017023847.1:c.893C>T, XM_017023847.1:c.893C>A, NM_001243160.2:c.-241C>T, NM_001243160.2:c.-241C>A, NM_001243160.1:c.-241C>T, NM_001243160.1:c.-241C>A, NM_001243157.2:c.176C>T, NM_001243157.2:c.176C>A, NM_001243157.1:c.176C>T, NM_001243157.1:c.176C>A, NM_001243158.2:c.176C>T, NM_001243158.2:c.176C>A, NM_001243158.1:c.176C>T, NM_001243158.1:c.176C>A, XP_006721388.1:p.Ala392Val, XP_006721388.1:p.Ala392Glu, NP_005670.4:p.Ala391Val, NP_005670.4:p.Ala391Glu, XP_006721389.1:p.Ala366Val, XP_006721389.1:p.Ala366Glu, XP_005256283.1:p.Ala391Val, XP_005256283.1:p.Ala391Glu, XP_005256284.1:p.Ala324Val, XP_005256284.1:p.Ala324Glu, NP_647610.3:p.Ala298Val, NP_647610.3:p.Ala298Glu, NP_001230085.2:p.Ala365Val, NP_001230085.2:p.Ala365Glu, XP_016879334.1:p.Ala365Val, XP_016879334.1:p.Ala365Glu, XP_016879336.1:p.Ala298Val, XP_016879336.1:p.Ala298Glu, NP_001230086.1:p.Ala59Val, NP_001230086.1:p.Ala59Glu, NP_001230087.1:p.Ala59Val, NP_001230087.1:p.Ala59Glu

                    10.

                    rs1485043061 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      16:84179951 (GRCh38)
                      16:84213557 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:84179950:G:T
                      Gene:
                      TAF1C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      T=0.000071/1 (TOMMO)
                      HGVS:
                      NC_000016.10:g.84179951G>T, NC_000016.9:g.84213557G>T, XM_006721325.4:c.1697C>A, XM_006721325.3:c.1697C>A, XM_006721325.2:c.1697C>A, XM_006721325.1:c.1697C>A, NM_005679.4:c.1694C>A, NM_005679.3:c.1694C>A, XM_006721326.4:c.1619C>A, XM_006721326.3:c.1619C>A, XM_006721326.2:c.1619C>A, XM_006721326.1:c.1619C>A, XM_005256226.4:c.1694C>A, XM_005256226.3:c.1694C>A, XM_005256226.2:c.1694C>A, XM_005256226.1:c.1694C>A, XM_005256227.4:c.1493C>A, XM_005256227.3:c.1493C>A, XM_005256227.2:c.1493C>A, XM_005256227.1:c.1493C>A, NM_139353.3:c.1412C>A, NM_139353.2:c.1412C>A, NM_001243156.2:c.1616C>A, NM_001243156.1:c.1616C>A, NM_001243159.2:c.467C>A, NM_001243159.1:c.467C>A, XM_017023845.2:c.1616C>A, XM_017023845.1:c.1616C>A, XM_017023847.2:c.1415C>A, XM_017023847.1:c.1415C>A, NM_001243160.2:c.263C>A, NM_001243160.1:c.263C>A, NM_001243157.2:c.698C>A, NM_001243157.1:c.698C>A, NM_001243158.2:c.698C>A, NM_001243158.1:c.698C>A, XP_006721388.1:p.Thr566Asn, NP_005670.4:p.Thr565Asn, XP_006721389.1:p.Thr540Asn, XP_005256283.1:p.Thr565Asn, XP_005256284.1:p.Thr498Asn, NP_647610.3:p.Thr471Asn, NP_001230085.2:p.Thr539Asn, NP_001230088.1:p.Thr156Asn, XP_016879334.1:p.Thr539Asn, XP_016879336.1:p.Thr472Asn, NP_001230089.1:p.Thr88Asn, NP_001230086.1:p.Thr233Asn, NP_001230087.1:p.Thr233Asn

                      11.

                      rs1484603477 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        16:84183287 (GRCh38)
                        16:84216893 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:84183286:A:C
                        Gene:
                        TAF1C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.84183287A>C, NC_000016.9:g.84216893A>C, XM_006721325.4:c.368T>G, XM_006721325.3:c.368T>G, XM_006721325.2:c.368T>G, XM_006721325.1:c.368T>G, NM_005679.4:c.365T>G, NM_005679.3:c.365T>G, XM_006721326.4:c.368T>G, XM_006721326.3:c.368T>G, XM_006721326.2:c.368T>G, XM_006721326.1:c.368T>G, XM_005256226.4:c.365T>G, XM_005256226.3:c.365T>G, XM_005256226.2:c.365T>G, XM_005256226.1:c.365T>G, XM_005256227.4:c.164T>G, XM_005256227.3:c.164T>G, XM_005256227.2:c.164T>G, XM_005256227.1:c.164T>G, NM_139353.3:c.164T>G, NM_139353.2:c.164T>G, NM_001243156.2:c.365T>G, NM_001243156.1:c.365T>G, NM_001243159.2:c.-913T>G, NM_001243159.1:c.-913T>G, XM_017023845.2:c.365T>G, XM_017023845.1:c.365T>G, XM_017023847.2:c.164T>G, XM_017023847.1:c.164T>G, NM_001243160.2:c.-1098T>G, NM_001243160.1:c.-1098T>G, NM_001243157.2:c.-480T>G, NM_001243157.1:c.-480T>G, XP_006721388.1:p.Leu123Arg, NP_005670.4:p.Leu122Arg, XP_006721389.1:p.Leu123Arg, XP_005256283.1:p.Leu122Arg, XP_005256284.1:p.Leu55Arg, NP_647610.3:p.Leu55Arg, NP_001230085.2:p.Leu122Arg, XP_016879334.1:p.Leu122Arg, XP_016879336.1:p.Leu55Arg

                        12.

                        rs1483468488 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:84181934 (GRCh38)
                          16:84215540 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:84181933:G:A
                          Gene:
                          TAF1C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1483382469 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            16:84179506 (GRCh38)
                            16:84213112 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:84179505:A:C
                            Gene:
                            TAF1C (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.84179506A>C, NC_000016.9:g.84213112A>C, NG_021174.2:g.39200A>C, NG_021174.1:g.39248A>C, XM_006721325.4:c.2048T>G, XM_006721325.3:c.2048T>G, XM_006721325.2:c.2048T>G, XM_006721325.1:c.2048T>G, NM_005679.4:c.2045T>G, NM_005679.3:c.2045T>G, XM_006721326.4:c.1970T>G, XM_006721326.3:c.1970T>G, XM_006721326.2:c.1970T>G, XM_006721326.1:c.1970T>G, XM_005256226.4:c.2045T>G, XM_005256226.3:c.2045T>G, XM_005256226.2:c.2045T>G, XM_005256226.1:c.2045T>G, XM_005256227.4:c.1844T>G, XM_005256227.3:c.1844T>G, XM_005256227.2:c.1844T>G, XM_005256227.1:c.1844T>G, NM_139353.3:c.1763T>G, NM_139353.2:c.1763T>G, NM_001243156.2:c.1967T>G, NM_001243156.1:c.1967T>G, NM_001243159.2:c.818T>G, NM_001243159.1:c.818T>G, XM_017023845.2:c.1967T>G, XM_017023845.1:c.1967T>G, XM_017023847.2:c.1766T>G, XM_017023847.1:c.1766T>G, NM_001243160.2:c.614T>G, NM_001243160.1:c.614T>G, NM_001243157.2:c.1049T>G, NM_001243157.1:c.1049T>G, NM_001243158.2:c.1049T>G, NM_001243158.1:c.1049T>G, XP_006721388.1:p.Leu683Arg, NP_005670.4:p.Leu682Arg, XP_006721389.1:p.Leu657Arg, XP_005256283.1:p.Leu682Arg, XP_005256284.1:p.Leu615Arg, NP_647610.3:p.Leu588Arg, NP_001230085.2:p.Leu656Arg, NP_001230088.1:p.Leu273Arg, XP_016879334.1:p.Leu656Arg, XP_016879336.1:p.Leu589Arg, NP_001230089.1:p.Leu205Arg, NP_001230086.1:p.Leu350Arg, NP_001230087.1:p.Leu350Arg

                            14.

                            rs1483290701 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              16:84181910 (GRCh38)
                              16:84215516 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:84181909:G:A,NC_000016.10:84181909:G:C
                              Gene:
                              TAF1C (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.84181910G>A, NC_000016.10:g.84181910G>C, NC_000016.9:g.84215516G>A, NC_000016.9:g.84215516G>C, XM_006721325.4:c.873C>T, XM_006721325.4:c.873C>G, XM_006721325.3:c.873C>T, XM_006721325.3:c.873C>G, XM_006721325.2:c.873C>T, XM_006721325.2:c.873C>G, XM_006721325.1:c.873C>T, XM_006721325.1:c.873C>G, NM_005679.4:c.870C>T, NM_005679.4:c.870C>G, NM_005679.3:c.870C>T, NM_005679.3:c.870C>G, XM_005256226.4:c.870C>T, XM_005256226.4:c.870C>G, XM_005256226.3:c.870C>T, XM_005256226.3:c.870C>G, XM_005256226.2:c.870C>T, XM_005256226.2:c.870C>G, XM_005256226.1:c.870C>T, XM_005256226.1:c.870C>G, XM_005256227.4:c.669C>T, XM_005256227.4:c.669C>G, XM_005256227.3:c.669C>T, XM_005256227.3:c.669C>G, XM_005256227.2:c.669C>T, XM_005256227.2:c.669C>G, XM_005256227.1:c.669C>T, XM_005256227.1:c.669C>G, XP_006721388.1:p.His291Gln, NP_005670.4:p.His290Gln, XP_005256283.1:p.His290Gln, XP_005256284.1:p.His223Gln

                              15.

                              rs1482816883 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:84181448 (GRCh38)
                                16:84215054 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:84181447:G:A
                                Gene:
                                TAF1C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                A=0.000016/4 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.84181448G>A, NC_000016.9:g.84215054G>A, XM_006721325.4:c.1125C>T, XM_006721325.3:c.1125C>T, XM_006721325.2:c.1125C>T, XM_006721325.1:c.1125C>T, NM_005679.4:c.1122C>T, NM_005679.3:c.1122C>T, XM_006721326.4:c.1047C>T, XM_006721326.3:c.1047C>T, XM_006721326.2:c.1047C>T, XM_006721326.1:c.1047C>T, XM_005256226.4:c.1122C>T, XM_005256226.3:c.1122C>T, XM_005256226.2:c.1122C>T, XM_005256226.1:c.1122C>T, XM_005256227.4:c.921C>T, XM_005256227.3:c.921C>T, XM_005256227.2:c.921C>T, XM_005256227.1:c.921C>T, NM_139353.3:c.843C>T, NM_139353.2:c.843C>T, NM_001243156.2:c.1044C>T, NM_001243156.1:c.1044C>T, NM_001243159.2:c.-106C>T, NM_001243159.1:c.-106C>T, XM_017023845.2:c.1044C>T, XM_017023845.1:c.1044C>T, XM_017023847.2:c.843C>T, XM_017023847.1:c.843C>T, NM_001243160.2:c.-291C>T, NM_001243160.1:c.-291C>T, NM_001243157.2:c.126C>T, NM_001243157.1:c.126C>T, NM_001243158.2:c.126C>T, NM_001243158.1:c.126C>T

                                16.

                                rs1482696578 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:84179537 (GRCh38)
                                  16:84213143 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:84179536:C:T
                                  Gene:
                                  TAF1C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000016.10:g.84179537C>T, NC_000016.9:g.84213143C>T, NG_021174.2:g.39231C>T, NG_021174.1:g.39279C>T, XM_006721325.4:c.2017G>A, XM_006721325.3:c.2017G>A, XM_006721325.2:c.2017G>A, XM_006721325.1:c.2017G>A, NM_005679.4:c.2014G>A, NM_005679.3:c.2014G>A, XM_006721326.4:c.1939G>A, XM_006721326.3:c.1939G>A, XM_006721326.2:c.1939G>A, XM_006721326.1:c.1939G>A, XM_005256226.4:c.2014G>A, XM_005256226.3:c.2014G>A, XM_005256226.2:c.2014G>A, XM_005256226.1:c.2014G>A, XM_005256227.4:c.1813G>A, XM_005256227.3:c.1813G>A, XM_005256227.2:c.1813G>A, XM_005256227.1:c.1813G>A, NM_139353.3:c.1732G>A, NM_139353.2:c.1732G>A, NM_001243156.2:c.1936G>A, NM_001243156.1:c.1936G>A, NM_001243159.2:c.787G>A, NM_001243159.1:c.787G>A, XM_017023845.2:c.1936G>A, XM_017023845.1:c.1936G>A, XM_017023847.2:c.1735G>A, XM_017023847.1:c.1735G>A, NM_001243160.2:c.583G>A, NM_001243160.1:c.583G>A, NM_001243157.2:c.1018G>A, NM_001243157.1:c.1018G>A, NM_001243158.2:c.1018G>A, NM_001243158.1:c.1018G>A, XP_006721388.1:p.Glu673Lys, NP_005670.4:p.Glu672Lys, XP_006721389.1:p.Glu647Lys, XP_005256283.1:p.Glu672Lys, XP_005256284.1:p.Glu605Lys, NP_647610.3:p.Glu578Lys, NP_001230085.2:p.Glu646Lys, NP_001230088.1:p.Glu263Lys, XP_016879334.1:p.Glu646Lys, XP_016879336.1:p.Glu579Lys, NP_001230089.1:p.Glu195Lys, NP_001230086.1:p.Glu340Lys, NP_001230087.1:p.Glu340Lys

                                  17.

                                  rs1482422187 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:84182018 (GRCh38)
                                    16:84215624 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:84182017:T:C
                                    Gene:
                                    TAF1C (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000061/2 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.84182018T>C, NC_000016.9:g.84215624T>C, XM_006721325.4:c.765A>G, XM_006721325.3:c.765A>G, XM_006721325.2:c.765A>G, XM_006721325.1:c.765A>G, NM_005679.4:c.762A>G, NM_005679.3:c.762A>G, XM_006721326.4:c.765A>G, XM_006721326.3:c.765A>G, XM_006721326.2:c.765A>G, XM_006721326.1:c.765A>G, XM_005256226.4:c.762A>G, XM_005256226.3:c.762A>G, XM_005256226.2:c.762A>G, XM_005256226.1:c.762A>G, XM_005256227.4:c.561A>G, XM_005256227.3:c.561A>G, XM_005256227.2:c.561A>G, XM_005256227.1:c.561A>G, NM_139353.3:c.561A>G, NM_139353.2:c.561A>G, NM_001243156.2:c.762A>G, NM_001243156.1:c.762A>G, NM_001243159.2:c.-516A>G, NM_001243159.1:c.-516A>G, XM_017023845.2:c.762A>G, XM_017023845.1:c.762A>G, XM_017023847.2:c.561A>G, XM_017023847.1:c.561A>G, NM_001243160.2:c.-701A>G, NM_001243160.1:c.-701A>G, NM_001243157.2:c.-157A>G, NM_001243157.1:c.-157A>G, NM_001243158.2:c.-157A>G, NM_001243158.1:c.-157A>G

                                    18.

                                    rs1481815172 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      16:84179201 (GRCh38)
                                      16:84212807 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:84179200:C:G
                                      Gene:
                                      TAF1C (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.00001/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.84179201C>G, NC_000016.9:g.84212807C>G, NG_021174.2:g.38895C>G, NG_021174.1:g.38943C>G, XM_006721325.4:c.2353G>C, XM_006721325.3:c.2353G>C, XM_006721325.2:c.2353G>C, XM_006721325.1:c.2353G>C, NM_005679.4:c.2350G>C, NM_005679.3:c.2350G>C, XM_006721326.4:c.2275G>C, XM_006721326.3:c.2275G>C, XM_006721326.2:c.2275G>C, XM_006721326.1:c.2275G>C, XM_005256226.4:c.2350G>C, XM_005256226.3:c.2350G>C, XM_005256226.2:c.2350G>C, XM_005256226.1:c.2350G>C, XM_005256227.4:c.2149G>C, XM_005256227.3:c.2149G>C, XM_005256227.2:c.2149G>C, XM_005256227.1:c.2149G>C, NM_139353.3:c.2068G>C, NM_139353.2:c.2068G>C, NM_001243156.2:c.2272G>C, NM_001243156.1:c.2272G>C, NM_001243159.2:c.1123G>C, NM_001243159.1:c.1123G>C, XM_017023845.2:c.2272G>C, XM_017023845.1:c.2272G>C, XM_017023847.2:c.2071G>C, XM_017023847.1:c.2071G>C, NM_001243160.2:c.919G>C, NM_001243160.1:c.919G>C, NM_001243157.2:c.1354G>C, NM_001243157.1:c.1354G>C, NM_001243158.2:c.1354G>C, NM_001243158.1:c.1354G>C, XP_006721388.1:p.Asp785His, NP_005670.4:p.Asp784His, XP_006721389.1:p.Asp759His, XP_005256283.1:p.Asp784His, XP_005256284.1:p.Asp717His, NP_647610.3:p.Asp690His, NP_001230085.2:p.Asp758His, NP_001230088.1:p.Asp375His, XP_016879334.1:p.Asp758His, XP_016879336.1:p.Asp691His, NP_001230089.1:p.Asp307His, NP_001230086.1:p.Asp452His, NP_001230087.1:p.Asp452His

                                      19.

                                      rs1481783555 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:84179584 (GRCh38)
                                        16:84213190 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:84179583:G: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./0 (GnomAD)
                                        C=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.84179584G>C, NC_000016.9:g.84213190G>C, NG_021174.2:g.39278G>C, NG_021174.1:g.39326G>C, XM_006721325.4:c.1970C>G, XM_006721325.3:c.1970C>G, XM_006721325.2:c.1970C>G, XM_006721325.1:c.1970C>G, NM_005679.4:c.1967C>G, NM_005679.3:c.1967C>G, XM_006721326.4:c.1892C>G, XM_006721326.3:c.1892C>G, XM_006721326.2:c.1892C>G, XM_006721326.1:c.1892C>G, XM_005256226.4:c.1967C>G, XM_005256226.3:c.1967C>G, XM_005256226.2:c.1967C>G, XM_005256226.1:c.1967C>G, XM_005256227.4:c.1766C>G, XM_005256227.3:c.1766C>G, XM_005256227.2:c.1766C>G, XM_005256227.1:c.1766C>G, NM_139353.3:c.1685C>G, NM_139353.2:c.1685C>G, NM_001243156.2:c.1889C>G, NM_001243156.1:c.1889C>G, NM_001243159.2:c.740C>G, NM_001243159.1:c.740C>G, XM_017023845.2:c.1889C>G, XM_017023845.1:c.1889C>G, XM_017023847.2:c.1688C>G, XM_017023847.1:c.1688C>G, NM_001243160.2:c.536C>G, NM_001243160.1:c.536C>G, NM_001243157.2:c.971C>G, NM_001243157.1:c.971C>G, NM_001243158.2:c.971C>G, NM_001243158.1:c.971C>G, XP_006721388.1:p.Pro657Arg, NP_005670.4:p.Pro656Arg, XP_006721389.1:p.Pro631Arg, XP_005256283.1:p.Pro656Arg, XP_005256284.1:p.Pro589Arg, NP_647610.3:p.Pro562Arg, NP_001230085.2:p.Pro630Arg, NP_001230088.1:p.Pro247Arg, XP_016879334.1:p.Pro630Arg, XP_016879336.1:p.Pro563Arg, NP_001230089.1:p.Pro179Arg, NP_001230086.1:p.Pro324Arg, NP_001230087.1:p.Pro324Arg

                                        20.

                                        rs1481489923 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:84184928 (GRCh38)
                                          16:84218534 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:84184927:C:T
                                          Gene:
                                          TAF1C (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000016/4 (GnomAD_exomes)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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