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Items: 1 to 20 of 509

1.

rs1489789618 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:146867571 (GRCh38)
    4:147788723 (GRCh37)
    Canonical SPDI:
    NC_000004.12:146867570:T:C
    Gene:
    TTC29 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.146867571T>C, NC_000004.11:g.147788723T>C, NM_001300761.4:c.890A>G, NM_001300761.3:c.890A>G, NM_001300761.2:c.890A>G, NM_001300761.1:c.890A>G, NM_031956.4:c.812A>G, NM_031956.3:c.812A>G, NM_031956.2:c.812A>G, NR_133922.3:n.1021A>G, NR_133922.2:n.1021A>G, NR_133922.1:n.1043A>G, NM_001317806.3:c.812A>G, NM_001317806.2:c.812A>G, NM_001317806.1:c.812A>G, XM_006714339.3:c.704A>G, XM_006714339.2:c.704A>G, XM_006714339.1:c.704A>G, XM_011532310.3:c.890A>G, XM_011532310.2:c.890A>G, XM_011532310.1:c.890A>G, XM_006714335.2:c.890A>G, XM_006714335.1:c.890A>G, XM_005263270.2:c.890A>G, XM_005263270.1:c.890A>G, XM_006714336.2:c.890A>G, XM_006714336.1:c.890A>G, XM_047416240.1:c.890A>G, XM_047416241.1:c.890A>G, XM_047416242.1:c.890A>G, XM_047416243.1:c.890A>G, NP_001287690.1:p.Lys297Arg, NP_114162.2:p.Lys271Arg, NP_001304735.1:p.Lys271Arg, XP_006714402.1:p.Lys235Arg, XP_011530612.1:p.Lys297Arg, XP_006714398.1:p.Lys297Arg, XP_005263327.1:p.Lys297Arg, XP_006714399.1:p.Lys297Arg, XP_047272196.1:p.Lys297Arg, XP_047272197.1:p.Lys297Arg, XP_047272198.1:p.Lys297Arg, XP_047272199.1:p.Lys297Arg

    2.

    rs1489738488 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      4:146803680 (GRCh38)
      4:147724832 (GRCh37)
      Canonical SPDI:
      NC_000004.12:146803679:G:A,NC_000004.12:146803679:G:C
      Gene:
      TTC29 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,stop_gained,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
      Clinical significance:
      pathogenic
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.00004/1 (TOMMO)
      C=0.00034/1 (KOREAN)
      HGVS:
      NC_000004.12:g.146803680G>A, NC_000004.12:g.146803680G>C, NC_000004.11:g.147724832G>A, NC_000004.11:g.147724832G>C, NM_001300761.4:c.1185C>T, NM_001300761.4:c.1185C>G, NM_001300761.3:c.1185C>T, NM_001300761.3:c.1185C>G, NM_001300761.2:c.1185C>T, NM_001300761.2:c.1185C>G, NM_001300761.1:c.1185C>T, NM_001300761.1:c.1185C>G, NM_031956.4:c.1107C>T, NM_031956.4:c.1107C>G, NM_031956.3:c.1107C>T, NM_031956.3:c.1107C>G, NM_031956.2:c.1107C>T, NM_031956.2:c.1107C>G, NR_133922.3:n.1470C>T, NR_133922.3:n.1470C>G, NR_133922.2:n.1470C>T, NR_133922.2:n.1470C>G, NR_133922.1:n.1492C>T, NR_133922.1:n.1492C>G, NM_001317806.3:c.1107C>T, NM_001317806.3:c.1107C>G, NM_001317806.2:c.1107C>T, NM_001317806.2:c.1107C>G, NM_001317806.1:c.1107C>T, NM_001317806.1:c.1107C>G, XM_006714339.3:c.999C>T, XM_006714339.3:c.999C>G, XM_006714339.2:c.999C>T, XM_006714339.2:c.999C>G, XM_006714339.1:c.999C>T, XM_006714339.1:c.999C>G, XM_006714335.2:c.1185C>T, XM_006714335.2:c.1185C>G, XM_006714335.1:c.1185C>T, XM_006714335.1:c.1185C>G, XM_005263270.2:c.1185C>T, XM_005263270.2:c.1185C>G, XM_005263270.1:c.1185C>T, XM_005263270.1:c.1185C>G, XM_006714336.2:c.1185C>T, XM_006714336.2:c.1185C>G, XM_006714336.1:c.1185C>T, XM_006714336.1:c.1185C>G, XM_047416240.1:c.1185C>T, XM_047416240.1:c.1185C>G, XM_047416241.1:c.1185C>T, XM_047416241.1:c.1185C>G, XM_047416242.1:c.1185C>T, XM_047416242.1:c.1185C>G, NP_001287690.1:p.Tyr395Ter, NP_114162.2:p.Tyr369Ter, NP_001304735.1:p.Tyr369Ter, XP_006714402.1:p.Tyr333Ter, XP_006714398.1:p.Tyr395Ter, XP_005263327.1:p.Tyr395Ter, XP_006714399.1:p.Tyr395Ter, XP_047272196.1:p.Tyr395Ter, XP_047272197.1:p.Tyr395Ter, XP_047272198.1:p.Tyr395Ter

      3.

      rs1489058804 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        4:146937660 (GRCh38)
        4:147858812 (GRCh37)
        Canonical SPDI:
        NC_000004.12:146937659:T:A,NC_000004.12:146937659:T:C
        Gene:
        TTC29 (Varview), LOC105377473 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by cluster
        HGVS:
        NC_000004.12:g.146937660T>A, NC_000004.12:g.146937660T>C, NC_000004.11:g.147858812T>A, NC_000004.11:g.147858812T>C, NM_001300761.4:c.188A>T, NM_001300761.4:c.188A>G, NM_001300761.3:c.188A>T, NM_001300761.3:c.188A>G, NM_001300761.2:c.188A>T, NM_001300761.2:c.188A>G, NM_001300761.1:c.188A>T, NM_001300761.1:c.188A>G, NM_031956.4:c.110A>T, NM_031956.4:c.110A>G, NM_031956.3:c.110A>T, NM_031956.3:c.110A>G, NM_031956.2:c.110A>T, NM_031956.2:c.110A>G, NR_133922.3:n.319A>T, NR_133922.3:n.319A>G, NR_133922.2:n.319A>T, NR_133922.2:n.319A>G, NR_133922.1:n.341A>T, NR_133922.1:n.341A>G, NM_001317806.3:c.110A>T, NM_001317806.3:c.110A>G, NM_001317806.2:c.110A>T, NM_001317806.2:c.110A>G, NM_001317806.1:c.110A>T, NM_001317806.1:c.110A>G, XM_006714339.3:c.188A>T, XM_006714339.3:c.188A>G, XM_006714339.2:c.188A>T, XM_006714339.2:c.188A>G, XM_006714339.1:c.188A>T, XM_006714339.1:c.188A>G, XM_011532310.3:c.188A>T, XM_011532310.3:c.188A>G, XM_011532310.2:c.188A>T, XM_011532310.2:c.188A>G, XM_011532310.1:c.188A>T, XM_011532310.1:c.188A>G, XM_006714335.2:c.188A>T, XM_006714335.2:c.188A>G, XM_006714335.1:c.188A>T, XM_006714335.1:c.188A>G, XM_005263270.2:c.188A>T, XM_005263270.2:c.188A>G, XM_005263270.1:c.188A>T, XM_005263270.1:c.188A>G, XM_006714336.2:c.188A>T, XM_006714336.2:c.188A>G, XM_006714336.1:c.188A>T, XM_006714336.1:c.188A>G, XM_047416240.1:c.188A>T, XM_047416240.1:c.188A>G, XM_047416241.1:c.188A>T, XM_047416241.1:c.188A>G, XM_047416242.1:c.188A>T, XM_047416242.1:c.188A>G, XM_047416243.1:c.188A>T, XM_047416243.1:c.188A>G, NP_001287690.1:p.Glu63Val, NP_001287690.1:p.Glu63Gly, NP_114162.2:p.Glu37Val, NP_114162.2:p.Glu37Gly, NP_001304735.1:p.Glu37Val, NP_001304735.1:p.Glu37Gly, XP_006714402.1:p.Glu63Val, XP_006714402.1:p.Glu63Gly, XP_011530612.1:p.Glu63Val, XP_011530612.1:p.Glu63Gly, XP_006714398.1:p.Glu63Val, XP_006714398.1:p.Glu63Gly, XP_005263327.1:p.Glu63Val, XP_005263327.1:p.Glu63Gly, XP_006714399.1:p.Glu63Val, XP_006714399.1:p.Glu63Gly, XP_047272196.1:p.Glu63Val, XP_047272196.1:p.Glu63Gly, XP_047272197.1:p.Glu63Val, XP_047272197.1:p.Glu63Gly, XP_047272198.1:p.Glu63Val, XP_047272198.1:p.Glu63Gly, XP_047272199.1:p.Glu63Val, XP_047272199.1:p.Glu63Gly

        4.

        rs1487163628 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          4:146909058 (GRCh38)
          4:147830210 (GRCh37)
          Canonical SPDI:
          NC_000004.12:146909057:T:C
          Gene:
          TTC29 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000004.12:g.146909058T>C, NC_000004.11:g.147830210T>C, NM_001300761.4:c.446A>G, NM_001300761.3:c.446A>G, NM_001300761.2:c.446A>G, NM_001300761.1:c.446A>G, NM_031956.4:c.368A>G, NM_031956.3:c.368A>G, NM_031956.2:c.368A>G, NR_133922.3:n.577A>G, NR_133922.2:n.577A>G, NR_133922.1:n.599A>G, NM_001317806.3:c.368A>G, NM_001317806.2:c.368A>G, NM_001317806.1:c.368A>G, XM_006714339.3:c.446A>G, XM_006714339.2:c.446A>G, XM_006714339.1:c.446A>G, XM_011532310.3:c.446A>G, XM_011532310.2:c.446A>G, XM_011532310.1:c.446A>G, XM_006714335.2:c.446A>G, XM_006714335.1:c.446A>G, XM_005263270.2:c.446A>G, XM_005263270.1:c.446A>G, XM_006714336.2:c.446A>G, XM_006714336.1:c.446A>G, XM_047416240.1:c.446A>G, XM_047416241.1:c.446A>G, XM_047416242.1:c.446A>G, XM_047416243.1:c.446A>G, NP_001287690.1:p.Tyr149Cys, NP_114162.2:p.Tyr123Cys, NP_001304735.1:p.Tyr123Cys, XP_006714402.1:p.Tyr149Cys, XP_011530612.1:p.Tyr149Cys, XP_006714398.1:p.Tyr149Cys, XP_005263327.1:p.Tyr149Cys, XP_006714399.1:p.Tyr149Cys, XP_047272196.1:p.Tyr149Cys, XP_047272197.1:p.Tyr149Cys, XP_047272198.1:p.Tyr149Cys, XP_047272199.1:p.Tyr149Cys

          5.

          rs1487151849 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:146833807 (GRCh38)
            4:147754959 (GRCh37)
            Canonical SPDI:
            NC_000004.12:146833806:T:C
            Gene:
            TTC29 (Varview), LOC105377474 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.146833807T>C, NC_000004.11:g.147754959T>C, NM_001300761.4:c.1054A>G, NM_001300761.3:c.1054A>G, NM_001300761.2:c.1054A>G, NM_001300761.1:c.1054A>G, NM_031956.4:c.976A>G, NM_031956.3:c.976A>G, NM_031956.2:c.976A>G, NR_133922.3:n.1185A>G, NR_133922.2:n.1185A>G, NR_133922.1:n.1207A>G, NM_001317806.3:c.976A>G, NM_001317806.2:c.976A>G, NM_001317806.1:c.976A>G, XM_006714339.3:c.868A>G, XM_006714339.2:c.868A>G, XM_006714339.1:c.868A>G, XM_006714335.2:c.1054A>G, XM_006714335.1:c.1054A>G, XM_005263270.2:c.1054A>G, XM_005263270.1:c.1054A>G, XM_006714336.2:c.1054A>G, XM_006714336.1:c.1054A>G, XM_047416240.1:c.1054A>G, XM_047416241.1:c.1054A>G, XM_047416242.1:c.1054A>G, XM_047416243.1:c.1054A>G, NP_001287690.1:p.Ser352Gly, NP_114162.2:p.Ser326Gly, NP_001304735.1:p.Ser326Gly, XP_006714402.1:p.Ser290Gly, XP_006714398.1:p.Ser352Gly, XP_005263327.1:p.Ser352Gly, XP_006714399.1:p.Ser352Gly, XP_047272196.1:p.Ser352Gly, XP_047272197.1:p.Ser352Gly, XP_047272198.1:p.Ser352Gly, XP_047272199.1:p.Arg352Gly

            6.

            rs1484778355 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:146820154 (GRCh38)
              4:147741306 (GRCh37)
              Canonical SPDI:
              NC_000004.12:146820153:T:C
              Gene:
              TTC29 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000004.12:g.146820154T>C, NC_000004.11:g.147741306T>C, NM_001300761.4:c.1150A>G, NM_001300761.3:c.1150A>G, NM_001300761.2:c.1150A>G, NM_001300761.1:c.1150A>G, NM_031956.4:c.1072A>G, NM_031956.3:c.1072A>G, NM_031956.2:c.1072A>G, NR_133922.3:n.1435A>G, NR_133922.2:n.1435A>G, NR_133922.1:n.1457A>G, NM_001317806.3:c.1072A>G, NM_001317806.2:c.1072A>G, NM_001317806.1:c.1072A>G, XM_006714339.3:c.964A>G, XM_006714339.2:c.964A>G, XM_006714339.1:c.964A>G, XM_006714335.2:c.1150A>G, XM_006714335.1:c.1150A>G, XM_005263270.2:c.1150A>G, XM_005263270.1:c.1150A>G, XM_006714336.2:c.1150A>G, XM_006714336.1:c.1150A>G, XM_047416240.1:c.1150A>G, XM_047416241.1:c.1150A>G, XM_047416242.1:c.1150A>G, NP_001287690.1:p.Thr384Ala, NP_114162.2:p.Thr358Ala, NP_001304735.1:p.Thr358Ala, XP_006714402.1:p.Thr322Ala, XP_006714398.1:p.Thr384Ala, XP_005263327.1:p.Thr384Ala, XP_006714399.1:p.Thr384Ala, XP_047272196.1:p.Thr384Ala, XP_047272197.1:p.Thr384Ala, XP_047272198.1:p.Thr384Ala

              7.

              rs1479795386 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:146874909 (GRCh38)
                4:147796061 (GRCh37)
                Canonical SPDI:
                NC_000004.12:146874908:A:G
                Gene:
                TTC29 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1479435031 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:146867499 (GRCh38)
                  4:147788651 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:146867498:G:A
                  Gene:
                  TTC29 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  HGVS:
                  NC_000004.12:g.146867499G>A, NC_000004.11:g.147788651G>A, NM_001300761.4:c.962C>T, NM_001300761.3:c.962C>T, NM_001300761.2:c.962C>T, NM_001300761.1:c.962C>T, NM_031956.4:c.884C>T, NM_031956.3:c.884C>T, NM_031956.2:c.884C>T, NR_133922.3:n.1093C>T, NR_133922.2:n.1093C>T, NR_133922.1:n.1115C>T, NM_001317806.3:c.884C>T, NM_001317806.2:c.884C>T, NM_001317806.1:c.884C>T, XM_006714339.3:c.776C>T, XM_006714339.2:c.776C>T, XM_006714339.1:c.776C>T, XM_011532310.3:c.962C>T, XM_011532310.2:c.962C>T, XM_011532310.1:c.962C>T, XM_006714335.2:c.962C>T, XM_006714335.1:c.962C>T, XM_005263270.2:c.962C>T, XM_005263270.1:c.962C>T, XM_006714336.2:c.962C>T, XM_006714336.1:c.962C>T, XM_047416240.1:c.962C>T, XM_047416241.1:c.962C>T, XM_047416242.1:c.962C>T, XM_047416243.1:c.962C>T, NP_001287690.1:p.Thr321Ile, NP_114162.2:p.Thr295Ile, NP_001304735.1:p.Thr295Ile, XP_006714402.1:p.Thr259Ile, XP_011530612.1:p.Thr321Ile, XP_006714398.1:p.Thr321Ile, XP_005263327.1:p.Thr321Ile, XP_006714399.1:p.Thr321Ile, XP_047272196.1:p.Thr321Ile, XP_047272197.1:p.Thr321Ile, XP_047272198.1:p.Thr321Ile, XP_047272199.1:p.Thr321Ile

                  9.

                  rs1479374556 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:146803631 (GRCh38)
                    4:147724783 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:146803630:C:T
                    Gene:
                    TTC29 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000004.12:g.146803631C>T, NC_000004.11:g.147724783C>T, NM_001300761.4:c.1234G>A, NM_001300761.3:c.1234G>A, NM_001300761.2:c.1234G>A, NM_001300761.1:c.1234G>A, NM_031956.4:c.1156G>A, NM_031956.3:c.1156G>A, NM_031956.2:c.1156G>A, NR_133922.3:n.1519G>A, NR_133922.2:n.1519G>A, NR_133922.1:n.1541G>A, NM_001317806.3:c.1156G>A, NM_001317806.2:c.1156G>A, NM_001317806.1:c.1156G>A, XM_006714339.3:c.1048G>A, XM_006714339.2:c.1048G>A, XM_006714339.1:c.1048G>A, XM_006714335.2:c.1234G>A, XM_006714335.1:c.1234G>A, XM_005263270.2:c.1234G>A, XM_005263270.1:c.1234G>A, XM_006714336.2:c.1234G>A, XM_006714336.1:c.1234G>A, XM_047416240.1:c.1234G>A, XM_047416241.1:c.1234G>A, XM_047416242.1:c.1234G>A, NP_001287690.1:p.Glu412Lys, NP_114162.2:p.Glu386Lys, NP_001304735.1:p.Glu386Lys, XP_006714402.1:p.Glu350Lys, XP_006714398.1:p.Glu412Lys, XP_005263327.1:p.Glu412Lys, XP_006714399.1:p.Glu412Lys, XP_047272196.1:p.Glu412Lys, XP_047272197.1:p.Glu412Lys, XP_047272198.1:p.Glu412Lys

                    10.

                    rs1476277078 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:146939822 (GRCh38)
                      4:147860974 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:146939821:G:A
                      Gene:
                      TTC29 (Varview), LOC105377473 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.146939822G>A, NC_000004.11:g.147860974G>A, NM_001300761.4:c.152C>T, NM_001300761.3:c.152C>T, NM_001300761.2:c.152C>T, NM_001300761.1:c.152C>T, NM_031956.4:c.74C>T, NM_031956.3:c.74C>T, NM_031956.2:c.74C>T, NR_133922.3:n.283C>T, NR_133922.2:n.283C>T, NR_133922.1:n.305C>T, NM_001317806.3:c.74C>T, NM_001317806.2:c.74C>T, NM_001317806.1:c.74C>T, XM_006714339.3:c.152C>T, XM_006714339.2:c.152C>T, XM_006714339.1:c.152C>T, XM_011532310.3:c.152C>T, XM_011532310.2:c.152C>T, XM_011532310.1:c.152C>T, XM_006714335.2:c.152C>T, XM_006714335.1:c.152C>T, XM_005263270.2:c.152C>T, XM_005263270.1:c.152C>T, XM_006714336.2:c.152C>T, XM_006714336.1:c.152C>T, XM_047416240.1:c.152C>T, XM_047416241.1:c.152C>T, XM_047416242.1:c.152C>T, XM_047416243.1:c.152C>T, NP_001287690.1:p.Ser51Phe, NP_114162.2:p.Ser25Phe, NP_001304735.1:p.Ser25Phe, XP_006714402.1:p.Ser51Phe, XP_011530612.1:p.Ser51Phe, XP_006714398.1:p.Ser51Phe, XP_005263327.1:p.Ser51Phe, XP_006714399.1:p.Ser51Phe, XP_047272196.1:p.Ser51Phe, XP_047272197.1:p.Ser51Phe, XP_047272198.1:p.Ser51Phe, XP_047272199.1:p.Ser51Phe

                      11.

                      rs1475782548 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:146903682 (GRCh38)
                        4:147824834 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:146903681:A:G
                        Gene:
                        TTC29 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000004.12:g.146903682A>G, NC_000004.11:g.147824834A>G, NM_001300761.4:c.526T>C, NM_001300761.3:c.526T>C, NM_001300761.2:c.526T>C, NM_001300761.1:c.526T>C, NM_031956.4:c.448T>C, NM_031956.3:c.448T>C, NM_031956.2:c.448T>C, NR_133922.3:n.657T>C, NR_133922.2:n.657T>C, NR_133922.1:n.679T>C, NM_001317806.3:c.448T>C, NM_001317806.2:c.448T>C, NM_001317806.1:c.448T>C, XM_011532310.3:c.526T>C, XM_011532310.2:c.526T>C, XM_011532310.1:c.526T>C, XM_006714335.2:c.526T>C, XM_006714335.1:c.526T>C, XM_005263270.2:c.526T>C, XM_005263270.1:c.526T>C, XM_006714336.2:c.526T>C, XM_006714336.1:c.526T>C, XM_047416240.1:c.526T>C, XM_047416241.1:c.526T>C, XM_047416242.1:c.526T>C, XM_047416243.1:c.526T>C, NP_001287690.1:p.Phe176Leu, NP_114162.2:p.Phe150Leu, NP_001304735.1:p.Phe150Leu, XP_011530612.1:p.Phe176Leu, XP_006714398.1:p.Phe176Leu, XP_005263327.1:p.Phe176Leu, XP_006714399.1:p.Phe176Leu, XP_047272196.1:p.Phe176Leu, XP_047272197.1:p.Phe176Leu, XP_047272198.1:p.Phe176Leu, XP_047272199.1:p.Phe176Leu

                        12.

                        rs1475535404 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:146820231 (GRCh38)
                          4:147741383 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:146820230:T:C
                          Gene:
                          TTC29 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.146820231T>C, NC_000004.11:g.147741383T>C, NM_001300761.4:c.1073A>G, NM_001300761.3:c.1073A>G, NM_001300761.2:c.1073A>G, NM_001300761.1:c.1073A>G, NM_031956.4:c.995A>G, NM_031956.3:c.995A>G, NM_031956.2:c.995A>G, NR_133922.3:n.1358A>G, NR_133922.2:n.1358A>G, NR_133922.1:n.1380A>G, NM_001317806.3:c.995A>G, NM_001317806.2:c.995A>G, NM_001317806.1:c.995A>G, XM_006714339.3:c.887A>G, XM_006714339.2:c.887A>G, XM_006714339.1:c.887A>G, XM_006714335.2:c.1073A>G, XM_006714335.1:c.1073A>G, XM_005263270.2:c.1073A>G, XM_005263270.1:c.1073A>G, XM_006714336.2:c.1073A>G, XM_006714336.1:c.1073A>G, XM_047416240.1:c.1073A>G, XM_047416241.1:c.1073A>G, XM_047416242.1:c.1073A>G, XM_047416243.1:c.*57A>G, NP_001287690.1:p.Glu358Gly, NP_114162.2:p.Glu332Gly, NP_001304735.1:p.Glu332Gly, XP_006714402.1:p.Glu296Gly, XP_006714398.1:p.Glu358Gly, XP_005263327.1:p.Glu358Gly, XP_006714399.1:p.Glu358Gly, XP_047272196.1:p.Glu358Gly, XP_047272197.1:p.Glu358Gly, XP_047272198.1:p.Glu358Gly

                          13.

                          rs1472939249 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:146833890 (GRCh38)
                            4:147755042 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:146833889:T:C
                            Gene:
                            TTC29 (Varview), LOC105377474 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.146833890T>C, NC_000004.11:g.147755042T>C, NM_001300761.4:c.971A>G, NM_001300761.3:c.971A>G, NM_001300761.2:c.971A>G, NM_001300761.1:c.971A>G, NM_031956.4:c.893A>G, NM_031956.3:c.893A>G, NM_031956.2:c.893A>G, NR_133922.3:n.1102A>G, NR_133922.2:n.1102A>G, NR_133922.1:n.1124A>G, NM_001317806.3:c.893A>G, NM_001317806.2:c.893A>G, NM_001317806.1:c.893A>G, XM_006714339.3:c.785A>G, XM_006714339.2:c.785A>G, XM_006714339.1:c.785A>G, XM_006714335.2:c.971A>G, XM_006714335.1:c.971A>G, XM_005263270.2:c.971A>G, XM_005263270.1:c.971A>G, XM_006714336.2:c.971A>G, XM_006714336.1:c.971A>G, XM_047416240.1:c.971A>G, XM_047416241.1:c.971A>G, XM_047416242.1:c.971A>G, XM_047416243.1:c.971A>G, NP_001287690.1:p.Asp324Gly, NP_114162.2:p.Asp298Gly, NP_001304735.1:p.Asp298Gly, XP_006714402.1:p.Asp262Gly, XP_006714398.1:p.Asp324Gly, XP_005263327.1:p.Asp324Gly, XP_006714399.1:p.Asp324Gly, XP_047272196.1:p.Asp324Gly, XP_047272197.1:p.Asp324Gly, XP_047272198.1:p.Asp324Gly, XP_047272199.1:p.Asp324Gly

                            14.

                            rs1469691527 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              4:146874785 (GRCh38)
                              4:147795937 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:146874784:T:C,NC_000004.12:146874784:T:G
                              Gene:
                              TTC29 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000051/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000004.12:g.146874785T>C, NC_000004.12:g.146874785T>G, NC_000004.11:g.147795937T>C, NC_000004.11:g.147795937T>G, NM_001300761.4:c.808A>G, NM_001300761.4:c.808A>C, NM_001300761.3:c.808A>G, NM_001300761.3:c.808A>C, NM_001300761.2:c.808A>G, NM_001300761.2:c.808A>C, NM_001300761.1:c.808A>G, NM_001300761.1:c.808A>C, NM_031956.4:c.730A>G, NM_031956.4:c.730A>C, NM_031956.3:c.730A>G, NM_031956.3:c.730A>C, NM_031956.2:c.730A>G, NM_031956.2:c.730A>C, NR_133922.3:n.939A>G, NR_133922.3:n.939A>C, NR_133922.2:n.939A>G, NR_133922.2:n.939A>C, NR_133922.1:n.961A>G, NR_133922.1:n.961A>C, NM_001317806.3:c.730A>G, NM_001317806.3:c.730A>C, NM_001317806.2:c.730A>G, NM_001317806.2:c.730A>C, NM_001317806.1:c.730A>G, NM_001317806.1:c.730A>C, XM_006714339.3:c.622A>G, XM_006714339.3:c.622A>C, XM_006714339.2:c.622A>G, XM_006714339.2:c.622A>C, XM_006714339.1:c.622A>G, XM_006714339.1:c.622A>C, XM_011532310.3:c.808A>G, XM_011532310.3:c.808A>C, XM_011532310.2:c.808A>G, XM_011532310.2:c.808A>C, XM_011532310.1:c.808A>G, XM_011532310.1:c.808A>C, XM_006714335.2:c.808A>G, XM_006714335.2:c.808A>C, XM_006714335.1:c.808A>G, XM_006714335.1:c.808A>C, XM_005263270.2:c.808A>G, XM_005263270.2:c.808A>C, XM_005263270.1:c.808A>G, XM_005263270.1:c.808A>C, XM_006714336.2:c.808A>G, XM_006714336.2:c.808A>C, XM_006714336.1:c.808A>G, XM_006714336.1:c.808A>C, XM_047416240.1:c.808A>G, XM_047416240.1:c.808A>C, XM_047416241.1:c.808A>G, XM_047416241.1:c.808A>C, XM_047416242.1:c.808A>G, XM_047416242.1:c.808A>C, XM_047416243.1:c.808A>G, XM_047416243.1:c.808A>C, NP_001287690.1:p.Met270Val, NP_001287690.1:p.Met270Leu, NP_114162.2:p.Met244Val, NP_114162.2:p.Met244Leu, NP_001304735.1:p.Met244Val, NP_001304735.1:p.Met244Leu, XP_006714402.1:p.Met208Val, XP_006714402.1:p.Met208Leu, XP_011530612.1:p.Met270Val, XP_011530612.1:p.Met270Leu, XP_006714398.1:p.Met270Val, XP_006714398.1:p.Met270Leu, XP_005263327.1:p.Met270Val, XP_005263327.1:p.Met270Leu, XP_006714399.1:p.Met270Val, XP_006714399.1:p.Met270Leu, XP_047272196.1:p.Met270Val, XP_047272196.1:p.Met270Leu, XP_047272197.1:p.Met270Val, XP_047272197.1:p.Met270Leu, XP_047272198.1:p.Met270Val, XP_047272198.1:p.Met270Leu, XP_047272199.1:p.Met270Val, XP_047272199.1:p.Met270Leu

                              15.

                              rs1468971448 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:146909164 (GRCh38)
                                4:147830316 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:146909163:T:C
                                Gene:
                                TTC29 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.146909164T>C, NC_000004.11:g.147830316T>C, NM_001300761.4:c.340A>G, NM_001300761.3:c.340A>G, NM_001300761.2:c.340A>G, NM_001300761.1:c.340A>G, NM_031956.4:c.262A>G, NM_031956.3:c.262A>G, NM_031956.2:c.262A>G, NR_133922.3:n.471A>G, NR_133922.2:n.471A>G, NR_133922.1:n.493A>G, NM_001317806.3:c.262A>G, NM_001317806.2:c.262A>G, NM_001317806.1:c.262A>G, XM_006714339.3:c.340A>G, XM_006714339.2:c.340A>G, XM_006714339.1:c.340A>G, XM_011532310.3:c.340A>G, XM_011532310.2:c.340A>G, XM_011532310.1:c.340A>G, XM_006714335.2:c.340A>G, XM_006714335.1:c.340A>G, XM_005263270.2:c.340A>G, XM_005263270.1:c.340A>G, XM_006714336.2:c.340A>G, XM_006714336.1:c.340A>G, XM_047416240.1:c.340A>G, XM_047416241.1:c.340A>G, XM_047416242.1:c.340A>G, XM_047416243.1:c.340A>G, NP_001287690.1:p.Met114Val, NP_114162.2:p.Met88Val, NP_001304735.1:p.Met88Val, XP_006714402.1:p.Met114Val, XP_011530612.1:p.Met114Val, XP_006714398.1:p.Met114Val, XP_005263327.1:p.Met114Val, XP_006714399.1:p.Met114Val, XP_047272196.1:p.Met114Val, XP_047272197.1:p.Met114Val, XP_047272198.1:p.Met114Val, XP_047272199.1:p.Met114Val

                                16.

                                rs1468293279 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:146903696 (GRCh38)
                                  4:147824848 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:146903695:G:A
                                  Gene:
                                  TTC29 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,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)
                                  HGVS:
                                  NC_000004.12:g.146903696G>A, NC_000004.11:g.147824848G>A, NM_001300761.4:c.512C>T, NM_001300761.3:c.512C>T, NM_001300761.2:c.512C>T, NM_001300761.1:c.512C>T, NM_031956.4:c.434C>T, NM_031956.3:c.434C>T, NM_031956.2:c.434C>T, NR_133922.3:n.643C>T, NR_133922.2:n.643C>T, NR_133922.1:n.665C>T, NM_001317806.3:c.434C>T, NM_001317806.2:c.434C>T, NM_001317806.1:c.434C>T, XM_011532310.3:c.512C>T, XM_011532310.2:c.512C>T, XM_011532310.1:c.512C>T, XM_006714335.2:c.512C>T, XM_006714335.1:c.512C>T, XM_005263270.2:c.512C>T, XM_005263270.1:c.512C>T, XM_006714336.2:c.512C>T, XM_006714336.1:c.512C>T, XM_047416240.1:c.512C>T, XM_047416241.1:c.512C>T, XM_047416242.1:c.512C>T, XM_047416243.1:c.512C>T, NP_001287690.1:p.Ala171Val, NP_114162.2:p.Ala145Val, NP_001304735.1:p.Ala145Val, XP_011530612.1:p.Ala171Val, XP_006714398.1:p.Ala171Val, XP_005263327.1:p.Ala171Val, XP_006714399.1:p.Ala171Val, XP_047272196.1:p.Ala171Val, XP_047272197.1:p.Ala171Val, XP_047272198.1:p.Ala171Val, XP_047272199.1:p.Ala171Val

                                  17.

                                  rs1465913748 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    4:146707161 (GRCh38)
                                    4:147628313 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:146707160:A:C
                                    Gene:
                                    TTC29 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000006/1 (GnomAD_exomes)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1465060910 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:146803660 (GRCh38)
                                      4:147724812 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:146803659:C:T
                                      Gene:
                                      TTC29 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000004.12:g.146803660C>T, NC_000004.11:g.147724812C>T, NM_001300761.4:c.1205G>A, NM_001300761.3:c.1205G>A, NM_001300761.2:c.1205G>A, NM_001300761.1:c.1205G>A, NM_031956.4:c.1127G>A, NM_031956.3:c.1127G>A, NM_031956.2:c.1127G>A, NR_133922.3:n.1490G>A, NR_133922.2:n.1490G>A, NR_133922.1:n.1512G>A, NM_001317806.3:c.1127G>A, NM_001317806.2:c.1127G>A, NM_001317806.1:c.1127G>A, XM_006714339.3:c.1019G>A, XM_006714339.2:c.1019G>A, XM_006714339.1:c.1019G>A, XM_006714335.2:c.1205G>A, XM_006714335.1:c.1205G>A, XM_005263270.2:c.1205G>A, XM_005263270.1:c.1205G>A, XM_006714336.2:c.1205G>A, XM_006714336.1:c.1205G>A, XM_047416240.1:c.1205G>A, XM_047416241.1:c.1205G>A, XM_047416242.1:c.1205G>A, NP_001287690.1:p.Cys402Tyr, NP_114162.2:p.Cys376Tyr, NP_001304735.1:p.Cys376Tyr, XP_006714402.1:p.Cys340Tyr, XP_006714398.1:p.Cys402Tyr, XP_005263327.1:p.Cys402Tyr, XP_006714399.1:p.Cys402Tyr, XP_047272196.1:p.Cys402Tyr, XP_047272197.1:p.Cys402Tyr, XP_047272198.1:p.Cys402Tyr

                                      19.

                                      rs1463604298 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        4:146874928 (GRCh38)
                                        4:147796080 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:146874927:CC:C
                                        Gene:
                                        TTC29 (Varview)
                                        Functional Consequence:
                                        splice_acceptor_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        -=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1462881132 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          4:146939880 (GRCh38)
                                          4:147861032 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:146939879:G:A,NC_000004.12:146939879:G:C
                                          Gene:
                                          TTC29 (Varview), LOC105377473 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000028/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.146939880G>A, NC_000004.12:g.146939880G>C, NC_000004.11:g.147861032G>A, NC_000004.11:g.147861032G>C, NM_001300761.4:c.94C>T, NM_001300761.4:c.94C>G, NM_001300761.3:c.94C>T, NM_001300761.3:c.94C>G, NM_001300761.2:c.94C>T, NM_001300761.2:c.94C>G, NM_001300761.1:c.94C>T, NM_001300761.1:c.94C>G, NM_031956.4:c.16C>T, NM_031956.4:c.16C>G, NM_031956.3:c.16C>T, NM_031956.3:c.16C>G, NM_031956.2:c.16C>T, NM_031956.2:c.16C>G, NR_133922.3:n.225C>T, NR_133922.3:n.225C>G, NR_133922.2:n.225C>T, NR_133922.2:n.225C>G, NR_133922.1:n.247C>T, NR_133922.1:n.247C>G, NM_001317806.3:c.16C>T, NM_001317806.3:c.16C>G, NM_001317806.2:c.16C>T, NM_001317806.2:c.16C>G, NM_001317806.1:c.16C>T, NM_001317806.1:c.16C>G, XM_006714339.3:c.94C>T, XM_006714339.3:c.94C>G, XM_006714339.2:c.94C>T, XM_006714339.2:c.94C>G, XM_006714339.1:c.94C>T, XM_006714339.1:c.94C>G, XM_011532310.3:c.94C>T, XM_011532310.3:c.94C>G, XM_011532310.2:c.94C>T, XM_011532310.2:c.94C>G, XM_011532310.1:c.94C>T, XM_011532310.1:c.94C>G, XM_006714335.2:c.94C>T, XM_006714335.2:c.94C>G, XM_006714335.1:c.94C>T, XM_006714335.1:c.94C>G, XM_005263270.2:c.94C>T, XM_005263270.2:c.94C>G, XM_005263270.1:c.94C>T, XM_005263270.1:c.94C>G, XM_006714336.2:c.94C>T, XM_006714336.2:c.94C>G, XM_006714336.1:c.94C>T, XM_006714336.1:c.94C>G, XM_047416240.1:c.94C>T, XM_047416240.1:c.94C>G, XM_047416241.1:c.94C>T, XM_047416241.1:c.94C>G, XM_047416242.1:c.94C>T, XM_047416242.1:c.94C>G, XM_047416243.1:c.94C>T, XM_047416243.1:c.94C>G, NP_001287690.1:p.Pro32Ser, NP_001287690.1:p.Pro32Ala, NP_114162.2:p.Pro6Ser, NP_114162.2:p.Pro6Ala, NP_001304735.1:p.Pro6Ser, NP_001304735.1:p.Pro6Ala, XP_006714402.1:p.Pro32Ser, XP_006714402.1:p.Pro32Ala, XP_011530612.1:p.Pro32Ser, XP_011530612.1:p.Pro32Ala, XP_006714398.1:p.Pro32Ser, XP_006714398.1:p.Pro32Ala, XP_005263327.1:p.Pro32Ser, XP_005263327.1:p.Pro32Ala, XP_006714399.1:p.Pro32Ser, XP_006714399.1:p.Pro32Ala, XP_047272196.1:p.Pro32Ser, XP_047272196.1:p.Pro32Ala, XP_047272197.1:p.Pro32Ser, XP_047272197.1:p.Pro32Ala, XP_047272198.1:p.Pro32Ser, XP_047272198.1:p.Pro32Ala, XP_047272199.1:p.Pro32Ser, XP_047272199.1:p.Pro32Ala

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