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Items: 1 to 20 of 239

1.

rs1487113873 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    18:3457756 (GRCh38)
    18:3457754 (GRCh37)
    Canonical SPDI:
    NC_000018.10:3457755:C:G
    Gene:
    TGIF1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000018.10:g.3457756C>G, NC_000018.9:g.3457754C>G, NG_007447.2:g.50683C>G, NM_170695.5:c.575C>G, NM_170695.4:c.1022C>G, NM_170695.3:c.1022C>G, NM_003244.4:c.635C>G, NM_003244.3:c.635C>G, NM_173207.4:c.677C>G, NM_173207.3:c.677C>G, NM_173207.2:c.677C>G, NM_173210.4:c.575C>G, NM_173210.3:c.575C>G, NM_173210.2:c.575C>G, NM_173208.3:c.635C>G, NM_173208.2:c.635C>G, NM_173209.3:c.575C>G, NM_173209.2:c.575C>G, NM_174886.3:c.575C>G, NM_174886.2:c.575C>G, NM_001278686.3:c.575C>G, NM_001278686.2:c.575C>G, NM_001278686.1:c.575C>G, NM_001278684.2:c.635C>G, NM_001278684.1:c.635C>G, NM_001278682.2:c.644C>G, NM_001278682.1:c.644C>G, NM_173211.2:c.575C>G, NM_173211.1:c.575C>G, NM_001374397.1:c.575C>G, NM_001374396.1:c.575C>G, NP_733796.3:p.Ser192Cys, NP_003235.1:p.Ser212Cys, NP_775299.1:p.Ser226Cys, NP_775302.1:p.Ser192Cys, NP_775300.1:p.Ser212Cys, NP_775301.1:p.Ser192Cys, NP_777480.1:p.Ser192Cys, NP_001265615.1:p.Ser192Cys, NP_001265613.1:p.Ser212Cys, NP_001265611.1:p.Ser215Cys, NP_775303.1:p.Ser192Cys, NP_001361326.1:p.Ser192Cys, NP_001361325.1:p.Ser192Cys

    2.

    rs1480410365 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      18:3457539 (GRCh38)
      18:3457537 (GRCh37)
      Canonical SPDI:
      NC_000018.10:3457538:C:G
      Gene:
      TGIF1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000018.10:g.3457539C>G, NC_000018.9:g.3457537C>G, NG_007447.2:g.50466C>G, NM_170695.5:c.358C>G, NM_170695.4:c.805C>G, NM_170695.3:c.805C>G, NM_003244.4:c.418C>G, NM_003244.3:c.418C>G, NM_173207.4:c.460C>G, NM_173207.3:c.460C>G, NM_173207.2:c.460C>G, NM_173210.4:c.358C>G, NM_173210.3:c.358C>G, NM_173210.2:c.358C>G, NM_173208.3:c.418C>G, NM_173208.2:c.418C>G, NM_173209.3:c.358C>G, NM_173209.2:c.358C>G, NM_174886.3:c.358C>G, NM_174886.2:c.358C>G, NM_001278686.3:c.358C>G, NM_001278686.2:c.358C>G, NM_001278686.1:c.358C>G, NM_001278684.2:c.418C>G, NM_001278684.1:c.418C>G, NM_001278682.2:c.427C>G, NM_001278682.1:c.427C>G, NM_173211.2:c.358C>G, NM_173211.1:c.358C>G, NM_001374397.1:c.358C>G, NM_001374396.1:c.358C>G, NP_733796.3:p.Pro120Ala, NP_003235.1:p.Pro140Ala, NP_775299.1:p.Pro154Ala, NP_775302.1:p.Pro120Ala, NP_775300.1:p.Pro140Ala, NP_775301.1:p.Pro120Ala, NP_777480.1:p.Pro120Ala, NP_001265615.1:p.Pro120Ala, NP_001265613.1:p.Pro140Ala, NP_001265611.1:p.Pro143Ala, NP_775303.1:p.Pro120Ala, NP_001361326.1:p.Pro120Ala, NP_001361325.1:p.Pro120Ala

      3.

      rs1480247337 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        18:3457593 (GRCh38)
        18:3457591 (GRCh37)
        Canonical SPDI:
        NC_000018.10:3457592:C:A,NC_000018.10:3457592:C:T
        Gene:
        TGIF1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_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_000018.10:g.3457593C>A, NC_000018.10:g.3457593C>T, NC_000018.9:g.3457591C>A, NC_000018.9:g.3457591C>T, NG_007447.2:g.50520C>A, NG_007447.2:g.50520C>T, NM_170695.5:c.412C>A, NM_170695.5:c.412C>T, NM_170695.4:c.859C>A, NM_170695.4:c.859C>T, NM_170695.3:c.859C>A, NM_170695.3:c.859C>T, NM_003244.4:c.472C>A, NM_003244.4:c.472C>T, NM_003244.3:c.472C>A, NM_003244.3:c.472C>T, NM_173207.4:c.514C>A, NM_173207.4:c.514C>T, NM_173207.3:c.514C>A, NM_173207.3:c.514C>T, NM_173207.2:c.514C>A, NM_173207.2:c.514C>T, NM_173210.4:c.412C>A, NM_173210.4:c.412C>T, NM_173210.3:c.412C>A, NM_173210.3:c.412C>T, NM_173210.2:c.412C>A, NM_173210.2:c.412C>T, NM_173208.3:c.472C>A, NM_173208.3:c.472C>T, NM_173208.2:c.472C>A, NM_173208.2:c.472C>T, NM_173209.3:c.412C>A, NM_173209.3:c.412C>T, NM_173209.2:c.412C>A, NM_173209.2:c.412C>T, NM_174886.3:c.412C>A, NM_174886.3:c.412C>T, NM_174886.2:c.412C>A, NM_174886.2:c.412C>T, NM_001278686.3:c.412C>A, NM_001278686.3:c.412C>T, NM_001278686.2:c.412C>A, NM_001278686.2:c.412C>T, NM_001278686.1:c.412C>A, NM_001278686.1:c.412C>T, NM_001278684.2:c.472C>A, NM_001278684.2:c.472C>T, NM_001278684.1:c.472C>A, NM_001278684.1:c.472C>T, NM_001278682.2:c.481C>A, NM_001278682.2:c.481C>T, NM_001278682.1:c.481C>A, NM_001278682.1:c.481C>T, NM_173211.2:c.412C>A, NM_173211.2:c.412C>T, NM_173211.1:c.412C>A, NM_173211.1:c.412C>T, NM_001374397.1:c.412C>A, NM_001374397.1:c.412C>T, NM_001374396.1:c.412C>A, NM_001374396.1:c.412C>T, NP_733796.3:p.Pro138Thr, NP_733796.3:p.Pro138Ser, NP_003235.1:p.Pro158Thr, NP_003235.1:p.Pro158Ser, NP_775299.1:p.Pro172Thr, NP_775299.1:p.Pro172Ser, NP_775302.1:p.Pro138Thr, NP_775302.1:p.Pro138Ser, NP_775300.1:p.Pro158Thr, NP_775300.1:p.Pro158Ser, NP_775301.1:p.Pro138Thr, NP_775301.1:p.Pro138Ser, NP_777480.1:p.Pro138Thr, NP_777480.1:p.Pro138Ser, NP_001265615.1:p.Pro138Thr, NP_001265615.1:p.Pro138Ser, NP_001265613.1:p.Pro158Thr, NP_001265613.1:p.Pro158Ser, NP_001265611.1:p.Pro161Thr, NP_001265611.1:p.Pro161Ser, NP_775303.1:p.Pro138Thr, NP_775303.1:p.Pro138Ser, NP_001361326.1:p.Pro138Thr, NP_001361326.1:p.Pro138Ser, NP_001361325.1:p.Pro138Thr, NP_001361325.1:p.Pro138Ser

        4.

        rs1479858750 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          18:3456404 (GRCh38)
          18:3456402 (GRCh37)
          Canonical SPDI:
          NC_000018.10:3456403:A:G
          Gene:
          TGIF1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000018.10:g.3456404A>G, NC_000018.9:g.3456402A>G, NG_007447.2:g.49331A>G, NM_170695.5:c.7A>G, NM_170695.4:c.454A>G, NM_170695.3:c.454A>G, NM_003244.4:c.67A>G, NM_003244.3:c.67A>G, NM_173207.4:c.109A>G, NM_173207.3:c.109A>G, NM_173207.2:c.109A>G, NM_173210.4:c.7A>G, NM_173210.3:c.7A>G, NM_173210.2:c.7A>G, NM_173208.3:c.67A>G, NM_173208.2:c.67A>G, NM_173209.3:c.7A>G, NM_173209.2:c.7A>G, NM_174886.3:c.7A>G, NM_174886.2:c.7A>G, NM_001278686.3:c.7A>G, NM_001278686.2:c.7A>G, NM_001278686.1:c.7A>G, NM_001278684.2:c.67A>G, NM_001278684.1:c.67A>G, NM_001278682.2:c.76A>G, NM_001278682.1:c.76A>G, NM_173211.2:c.7A>G, NM_173211.1:c.7A>G, NM_001374397.1:c.7A>G, NM_001374396.1:c.7A>G, NP_733796.3:p.Ile3Val, NP_003235.1:p.Ile23Val, NP_775299.1:p.Ile37Val, NP_775302.1:p.Ile3Val, NP_775300.1:p.Ile23Val, NP_775301.1:p.Ile3Val, NP_777480.1:p.Ile3Val, NP_001265615.1:p.Ile3Val, NP_001265613.1:p.Ile23Val, NP_001265611.1:p.Ile26Val, NP_775303.1:p.Ile3Val, NP_001361326.1:p.Ile3Val, NP_001361325.1:p.Ile3Val

          5.

          rs1479267151 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            18:3456530 (GRCh38)
            18:3456528 (GRCh37)
            Canonical SPDI:
            NC_000018.10:3456529:G:C
            Gene:
            TGIF1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.3456530G>C, NC_000018.9:g.3456528G>C, NG_007447.2:g.49457G>C, NM_170695.5:c.133G>C, NM_170695.4:c.580G>C, NM_170695.3:c.580G>C, NM_003244.4:c.193G>C, NM_003244.3:c.193G>C, NM_173207.4:c.235G>C, NM_173207.3:c.235G>C, NM_173207.2:c.235G>C, NM_173210.4:c.133G>C, NM_173210.3:c.133G>C, NM_173210.2:c.133G>C, NM_173208.3:c.193G>C, NM_173208.2:c.193G>C, NM_173209.3:c.133G>C, NM_173209.2:c.133G>C, NM_174886.3:c.133G>C, NM_174886.2:c.133G>C, NM_001278686.3:c.133G>C, NM_001278686.2:c.133G>C, NM_001278686.1:c.133G>C, NM_001278684.2:c.193G>C, NM_001278684.1:c.193G>C, NM_001278682.2:c.202G>C, NM_001278682.1:c.202G>C, NM_173211.2:c.133G>C, NM_173211.1:c.133G>C, NM_001374397.1:c.133G>C, NM_001374396.1:c.133G>C, NP_733796.3:p.Glu45Gln, NP_003235.1:p.Glu65Gln, NP_775299.1:p.Glu79Gln, NP_775302.1:p.Glu45Gln, NP_775300.1:p.Glu65Gln, NP_775301.1:p.Glu45Gln, NP_777480.1:p.Glu45Gln, NP_001265615.1:p.Glu45Gln, NP_001265613.1:p.Glu65Gln, NP_001265611.1:p.Glu68Gln, NP_775303.1:p.Glu45Gln, NP_001361326.1:p.Glu45Gln, NP_001361325.1:p.Glu45Gln

            6.

            rs1478445900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:3457508 (GRCh38)
              18:3457506 (GRCh37)
              Canonical SPDI:
              NC_000018.10:3457507:C:T
              Gene:
              TGIF1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1478419371 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                18:3457767 (GRCh38)
                18:3457765 (GRCh37)
                Canonical SPDI:
                NC_000018.10:3457766:C:G,NC_000018.10:3457766:C:T
                Gene:
                TGIF1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000018.10:g.3457767C>G, NC_000018.10:g.3457767C>T, NC_000018.9:g.3457765C>G, NC_000018.9:g.3457765C>T, NG_007447.2:g.50694C>G, NG_007447.2:g.50694C>T, NM_170695.5:c.586C>G, NM_170695.5:c.586C>T, NM_170695.4:c.1033C>G, NM_170695.4:c.1033C>T, NM_170695.3:c.1033C>G, NM_170695.3:c.1033C>T, NM_003244.4:c.646C>G, NM_003244.4:c.646C>T, NM_003244.3:c.646C>G, NM_003244.3:c.646C>T, NM_173207.4:c.688C>G, NM_173207.4:c.688C>T, NM_173207.3:c.688C>G, NM_173207.3:c.688C>T, NM_173207.2:c.688C>G, NM_173207.2:c.688C>T, NM_173210.4:c.586C>G, NM_173210.4:c.586C>T, NM_173210.3:c.586C>G, NM_173210.3:c.586C>T, NM_173210.2:c.586C>G, NM_173210.2:c.586C>T, NM_173208.3:c.646C>G, NM_173208.3:c.646C>T, NM_173208.2:c.646C>G, NM_173208.2:c.646C>T, NM_173209.3:c.586C>G, NM_173209.3:c.586C>T, NM_173209.2:c.586C>G, NM_173209.2:c.586C>T, NM_174886.3:c.586C>G, NM_174886.3:c.586C>T, NM_174886.2:c.586C>G, NM_174886.2:c.586C>T, NM_001278686.3:c.586C>G, NM_001278686.3:c.586C>T, NM_001278686.2:c.586C>G, NM_001278686.2:c.586C>T, NM_001278686.1:c.586C>G, NM_001278686.1:c.586C>T, NM_001278684.2:c.646C>G, NM_001278684.2:c.646C>T, NM_001278684.1:c.646C>G, NM_001278684.1:c.646C>T, NM_001278682.2:c.655C>G, NM_001278682.2:c.655C>T, NM_001278682.1:c.655C>G, NM_001278682.1:c.655C>T, NM_173211.2:c.586C>G, NM_173211.2:c.586C>T, NM_173211.1:c.586C>G, NM_173211.1:c.586C>T, NM_001374397.1:c.586C>G, NM_001374397.1:c.586C>T, NM_001374396.1:c.586C>G, NM_001374396.1:c.586C>T, NP_733796.3:p.Pro196Ala, NP_733796.3:p.Pro196Ser, NP_003235.1:p.Pro216Ala, NP_003235.1:p.Pro216Ser, NP_775299.1:p.Pro230Ala, NP_775299.1:p.Pro230Ser, NP_775302.1:p.Pro196Ala, NP_775302.1:p.Pro196Ser, NP_775300.1:p.Pro216Ala, NP_775300.1:p.Pro216Ser, NP_775301.1:p.Pro196Ala, NP_775301.1:p.Pro196Ser, NP_777480.1:p.Pro196Ala, NP_777480.1:p.Pro196Ser, NP_001265615.1:p.Pro196Ala, NP_001265615.1:p.Pro196Ser, NP_001265613.1:p.Pro216Ala, NP_001265613.1:p.Pro216Ser, NP_001265611.1:p.Pro219Ala, NP_001265611.1:p.Pro219Ser, NP_775303.1:p.Pro196Ala, NP_775303.1:p.Pro196Ser, NP_001361326.1:p.Pro196Ala, NP_001361326.1:p.Pro196Ser, NP_001361325.1:p.Pro196Ala, NP_001361325.1:p.Pro196Ser

                8.

                rs1474958210 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  18:3457931 (GRCh38)
                  18:3457930 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:3457931:A:AA
                  Gene:
                  TGIF1 (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000018.10:g.3457932dup, NC_000018.9:g.3457930dup, NG_007447.2:g.50859dup, NM_170695.5:c.751dup, NM_170695.4:c.1198dup, NM_170695.3:c.1198dup, NM_003244.4:c.811dup, NM_003244.3:c.811dup, NM_173207.4:c.853dup, NM_173207.3:c.853dup, NM_173207.2:c.853dup, NM_173210.4:c.751dup, NM_173210.3:c.751dup, NM_173210.2:c.751dup, NM_173208.3:c.811dup, NM_173208.2:c.811dup, NM_173209.3:c.751dup, NM_173209.2:c.751dup, NM_174886.3:c.751dup, NM_174886.2:c.751dup, NM_001278686.3:c.751dup, NM_001278686.2:c.751dup, NM_001278686.1:c.751dup, NM_001278684.2:c.811dup, NM_001278684.1:c.811dup, NM_001278682.2:c.820dup, NM_001278682.1:c.820dup, NM_173211.2:c.751dup, NM_173211.1:c.751dup, NM_001374397.1:c.751dup, NM_001374396.1:c.751dup, NP_733796.3:p.Thr251fs, NP_003235.1:p.Thr271fs, NP_775299.1:p.Thr285fs, NP_775302.1:p.Thr251fs, NP_775300.1:p.Thr271fs, NP_775301.1:p.Thr251fs, NP_777480.1:p.Thr251fs, NP_001265615.1:p.Thr251fs, NP_001265613.1:p.Thr271fs, NP_001265611.1:p.Thr274fs, NP_775303.1:p.Thr251fs, NP_001361326.1:p.Thr251fs, NP_001361325.1:p.Thr251fs

                  9.

                  rs1471865538 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    18:3457646 (GRCh38)
                    18:3457644 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:3457645:T:C
                    Gene:
                    TGIF1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1462481902 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      18:3456377 (GRCh38)
                      18:3456375 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:3456376:G:A
                      Gene:
                      TGIF1 (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.3456377G>A, NC_000018.9:g.3456375G>A, NG_007447.2:g.49304G>A, NM_170695.5:c.-21G>A, NM_170695.4:c.427G>A, NM_170695.3:c.427G>A, NM_003244.4:c.40G>A, NM_003244.3:c.40G>A, NM_173207.4:c.82G>A, NM_173207.3:c.82G>A, NM_173207.2:c.82G>A, NM_173210.4:c.-21G>A, NM_173210.3:c.-21G>A, NM_173210.2:c.-21G>A, NM_173208.3:c.40G>A, NM_173208.2:c.40G>A, NM_173209.3:c.-21G>A, NM_173209.2:c.-21G>A, NM_174886.3:c.-21G>A, NM_174886.2:c.-21G>A, NM_001278686.3:c.-21G>A, NM_001278686.2:c.-21G>A, NM_001278686.1:c.-21G>A, NM_001278684.2:c.40G>A, NM_001278684.1:c.40G>A, NM_001278682.2:c.49G>A, NM_001278682.1:c.49G>A, NM_173211.2:c.-21G>A, NM_173211.1:c.-21G>A, NM_001374397.1:c.-21G>A, NM_001374396.1:c.-21G>A, NP_003235.1:p.Glu14Lys, NP_775299.1:p.Glu28Lys, NP_775300.1:p.Glu14Lys, NP_001265613.1:p.Glu14Lys, NP_001265611.1:p.Glu17Lys

                      11.

                      rs1459052854 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        18:3457554 (GRCh38)
                        18:3457552 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:3457553:A:G
                        Gene:
                        TGIF1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000018.10:g.3457554A>G, NC_000018.9:g.3457552A>G, NG_007447.2:g.50481A>G, NM_170695.5:c.373A>G, NM_170695.4:c.820A>G, NM_170695.3:c.820A>G, NM_003244.4:c.433A>G, NM_003244.3:c.433A>G, NM_173207.4:c.475A>G, NM_173207.3:c.475A>G, NM_173207.2:c.475A>G, NM_173210.4:c.373A>G, NM_173210.3:c.373A>G, NM_173210.2:c.373A>G, NM_173208.3:c.433A>G, NM_173208.2:c.433A>G, NM_173209.3:c.373A>G, NM_173209.2:c.373A>G, NM_174886.3:c.373A>G, NM_174886.2:c.373A>G, NM_001278686.3:c.373A>G, NM_001278686.2:c.373A>G, NM_001278686.1:c.373A>G, NM_001278684.2:c.433A>G, NM_001278684.1:c.433A>G, NM_001278682.2:c.442A>G, NM_001278682.1:c.442A>G, NM_173211.2:c.373A>G, NM_173211.1:c.373A>G, NM_001374397.1:c.373A>G, NM_001374396.1:c.373A>G, NP_733796.3:p.Thr125Ala, NP_003235.1:p.Thr145Ala, NP_775299.1:p.Thr159Ala, NP_775302.1:p.Thr125Ala, NP_775300.1:p.Thr145Ala, NP_775301.1:p.Thr125Ala, NP_777480.1:p.Thr125Ala, NP_001265615.1:p.Thr125Ala, NP_001265613.1:p.Thr145Ala, NP_001265611.1:p.Thr148Ala, NP_775303.1:p.Thr125Ala, NP_001361326.1:p.Thr125Ala, NP_001361325.1:p.Thr125Ala

                        12.

                        rs1455956172 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          18:3456553 (GRCh38)
                          18:3456551 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:3456552:C:G
                          Gene:
                          TGIF1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1452879489 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            18:3457465 (GRCh38)
                            18:3457463 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:3457464:C:A,NC_000018.10:3457464:C:G
                            Gene:
                            TGIF1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0./0 (KOREAN)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.3457465C>A, NC_000018.10:g.3457465C>G, NC_000018.9:g.3457463C>A, NC_000018.9:g.3457463C>G, NG_007447.2:g.50392C>A, NG_007447.2:g.50392C>G, NM_170695.5:c.284C>A, NM_170695.5:c.284C>G, NM_170695.4:c.731C>A, NM_170695.4:c.731C>G, NM_170695.3:c.731C>A, NM_170695.3:c.731C>G, NM_003244.4:c.344C>A, NM_003244.4:c.344C>G, NM_003244.3:c.344C>A, NM_003244.3:c.344C>G, NM_173207.4:c.386C>A, NM_173207.4:c.386C>G, NM_173207.3:c.386C>A, NM_173207.3:c.386C>G, NM_173207.2:c.386C>A, NM_173207.2:c.386C>G, NM_173210.4:c.284C>A, NM_173210.4:c.284C>G, NM_173210.3:c.284C>A, NM_173210.3:c.284C>G, NM_173210.2:c.284C>A, NM_173210.2:c.284C>G, NM_173208.3:c.344C>A, NM_173208.3:c.344C>G, NM_173208.2:c.344C>A, NM_173208.2:c.344C>G, NM_173209.3:c.284C>A, NM_173209.3:c.284C>G, NM_173209.2:c.284C>A, NM_173209.2:c.284C>G, NM_174886.3:c.284C>A, NM_174886.3:c.284C>G, NM_174886.2:c.284C>A, NM_174886.2:c.284C>G, NM_001278686.3:c.284C>A, NM_001278686.3:c.284C>G, NM_001278686.2:c.284C>A, NM_001278686.2:c.284C>G, NM_001278686.1:c.284C>A, NM_001278686.1:c.284C>G, NM_001278684.2:c.344C>A, NM_001278684.2:c.344C>G, NM_001278684.1:c.344C>A, NM_001278684.1:c.344C>G, NM_001278682.2:c.353C>A, NM_001278682.2:c.353C>G, NM_001278682.1:c.353C>A, NM_001278682.1:c.353C>G, NM_173211.2:c.284C>A, NM_173211.2:c.284C>G, NM_173211.1:c.284C>A, NM_173211.1:c.284C>G, NM_001374397.1:c.284C>A, NM_001374397.1:c.284C>G, NM_001374396.1:c.284C>A, NM_001374396.1:c.284C>G, NP_733796.3:p.Ala95Asp, NP_733796.3:p.Ala95Gly, NP_003235.1:p.Ala115Asp, NP_003235.1:p.Ala115Gly, NP_775299.1:p.Ala129Asp, NP_775299.1:p.Ala129Gly, NP_775302.1:p.Ala95Asp, NP_775302.1:p.Ala95Gly, NP_775300.1:p.Ala115Asp, NP_775300.1:p.Ala115Gly, NP_775301.1:p.Ala95Asp, NP_775301.1:p.Ala95Gly, NP_777480.1:p.Ala95Asp, NP_777480.1:p.Ala95Gly, NP_001265615.1:p.Ala95Asp, NP_001265615.1:p.Ala95Gly, NP_001265613.1:p.Ala115Asp, NP_001265613.1:p.Ala115Gly, NP_001265611.1:p.Ala118Asp, NP_001265611.1:p.Ala118Gly, NP_775303.1:p.Ala95Asp, NP_775303.1:p.Ala95Gly, NP_001361326.1:p.Ala95Asp, NP_001361326.1:p.Ala95Gly, NP_001361325.1:p.Ala95Asp, NP_001361325.1:p.Ala95Gly

                            14.

                            rs1443811956 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              18:3457651 (GRCh38)
                              18:3457649 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:3457650:C:G
                              Gene:
                              TGIF1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000018.10:g.3457651C>G, NC_000018.9:g.3457649C>G, NG_007447.2:g.50578C>G, NM_170695.5:c.470C>G, NM_170695.4:c.917C>G, NM_170695.3:c.917C>G, NM_003244.4:c.530C>G, NM_003244.3:c.530C>G, NM_173207.4:c.572C>G, NM_173207.3:c.572C>G, NM_173207.2:c.572C>G, NM_173210.4:c.470C>G, NM_173210.3:c.470C>G, NM_173210.2:c.470C>G, NM_173208.3:c.530C>G, NM_173208.2:c.530C>G, NM_173209.3:c.470C>G, NM_173209.2:c.470C>G, NM_174886.3:c.470C>G, NM_174886.2:c.470C>G, NM_001278686.3:c.470C>G, NM_001278686.2:c.470C>G, NM_001278686.1:c.470C>G, NM_001278684.2:c.530C>G, NM_001278684.1:c.530C>G, NM_001278682.2:c.539C>G, NM_001278682.1:c.539C>G, NM_173211.2:c.470C>G, NM_173211.1:c.470C>G, NM_001374397.1:c.470C>G, NM_001374396.1:c.470C>G, NP_733796.3:p.Thr157Ser, NP_003235.1:p.Thr177Ser, NP_775299.1:p.Thr191Ser, NP_775302.1:p.Thr157Ser, NP_775300.1:p.Thr177Ser, NP_775301.1:p.Thr157Ser, NP_777480.1:p.Thr157Ser, NP_001265615.1:p.Thr157Ser, NP_001265613.1:p.Thr177Ser, NP_001265611.1:p.Thr180Ser, NP_775303.1:p.Thr157Ser, NP_001361326.1:p.Thr157Ser, NP_001361325.1:p.Thr157Ser

                              15.

                              rs1427572371 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                18:3456407 (GRCh38)
                                18:3456405 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:3456406:C:A,NC_000018.10:3456406:C:G
                                Gene:
                                TGIF1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000018.10:g.3456407C>A, NC_000018.10:g.3456407C>G, NC_000018.9:g.3456405C>A, NC_000018.9:g.3456405C>G, NG_007447.2:g.49334C>A, NG_007447.2:g.49334C>G, NM_170695.5:c.10C>A, NM_170695.5:c.10C>G, NM_170695.4:c.457C>A, NM_170695.4:c.457C>G, NM_170695.3:c.457C>A, NM_170695.3:c.457C>G, NM_003244.4:c.70C>A, NM_003244.4:c.70C>G, NM_003244.3:c.70C>A, NM_003244.3:c.70C>G, NM_173207.4:c.112C>A, NM_173207.4:c.112C>G, NM_173207.3:c.112C>A, NM_173207.3:c.112C>G, NM_173207.2:c.112C>A, NM_173207.2:c.112C>G, NM_173210.4:c.10C>A, NM_173210.4:c.10C>G, NM_173210.3:c.10C>A, NM_173210.3:c.10C>G, NM_173210.2:c.10C>A, NM_173210.2:c.10C>G, NM_173208.3:c.70C>A, NM_173208.3:c.70C>G, NM_173208.2:c.70C>A, NM_173208.2:c.70C>G, NM_173209.3:c.10C>A, NM_173209.3:c.10C>G, NM_173209.2:c.10C>A, NM_173209.2:c.10C>G, NM_174886.3:c.10C>A, NM_174886.3:c.10C>G, NM_174886.2:c.10C>A, NM_174886.2:c.10C>G, NM_001278686.3:c.10C>A, NM_001278686.3:c.10C>G, NM_001278686.2:c.10C>A, NM_001278686.2:c.10C>G, NM_001278686.1:c.10C>A, NM_001278686.1:c.10C>G, NM_001278684.2:c.70C>A, NM_001278684.2:c.70C>G, NM_001278684.1:c.70C>A, NM_001278684.1:c.70C>G, NM_001278682.2:c.79C>A, NM_001278682.2:c.79C>G, NM_001278682.1:c.79C>A, NM_001278682.1:c.79C>G, NM_173211.2:c.10C>A, NM_173211.2:c.10C>G, NM_173211.1:c.10C>A, NM_173211.1:c.10C>G, NM_001374397.1:c.10C>A, NM_001374397.1:c.10C>G, NM_001374396.1:c.10C>A, NM_001374396.1:c.10C>G, NP_733796.3:p.Pro4Thr, NP_733796.3:p.Pro4Ala, NP_003235.1:p.Pro24Thr, NP_003235.1:p.Pro24Ala, NP_775299.1:p.Pro38Thr, NP_775299.1:p.Pro38Ala, NP_775302.1:p.Pro4Thr, NP_775302.1:p.Pro4Ala, NP_775300.1:p.Pro24Thr, NP_775300.1:p.Pro24Ala, NP_775301.1:p.Pro4Thr, NP_775301.1:p.Pro4Ala, NP_777480.1:p.Pro4Thr, NP_777480.1:p.Pro4Ala, NP_001265615.1:p.Pro4Thr, NP_001265615.1:p.Pro4Ala, NP_001265613.1:p.Pro24Thr, NP_001265613.1:p.Pro24Ala, NP_001265611.1:p.Pro27Thr, NP_001265611.1:p.Pro27Ala, NP_775303.1:p.Pro4Thr, NP_775303.1:p.Pro4Ala, NP_001361326.1:p.Pro4Thr, NP_001361326.1:p.Pro4Ala, NP_001361325.1:p.Pro4Thr, NP_001361325.1:p.Pro4Ala

                                16.

                                rs1423698716 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  18:3456400 (GRCh38)
                                  18:3456398 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:3456399:G:A
                                  Gene:
                                  TGIF1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,initiator_codon_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000018.10:g.3456400G>A, NC_000018.9:g.3456398G>A, NG_007447.2:g.49327G>A, NM_170695.5:c.3G>A, NM_170695.4:c.450G>A, NM_170695.3:c.450G>A, NM_003244.4:c.63G>A, NM_003244.3:c.63G>A, NM_173207.4:c.105G>A, NM_173207.3:c.105G>A, NM_173207.2:c.105G>A, NM_173210.4:c.3G>A, NM_173210.3:c.3G>A, NM_173210.2:c.3G>A, NM_173208.3:c.63G>A, NM_173208.2:c.63G>A, NM_173209.3:c.3G>A, NM_173209.2:c.3G>A, NM_174886.3:c.3G>A, NM_174886.2:c.3G>A, NM_001278686.3:c.3G>A, NM_001278686.2:c.3G>A, NM_001278686.1:c.3G>A, NM_001278684.2:c.63G>A, NM_001278684.1:c.63G>A, NM_001278682.2:c.72G>A, NM_001278682.1:c.72G>A, NM_173211.2:c.3G>A, NM_173211.1:c.3G>A, NM_001374397.1:c.3G>A, NM_001374396.1:c.3G>A, NP_733796.3:p.Met1Ile, NP_003235.1:p.Met21Ile, NP_775299.1:p.Met35Ile, NP_775302.1:p.Met1Ile, NP_775300.1:p.Met21Ile, NP_775301.1:p.Met1Ile, NP_777480.1:p.Met1Ile, NP_001265615.1:p.Met1Ile, NP_001265613.1:p.Met21Ile, NP_001265611.1:p.Met24Ile, NP_775303.1:p.Met1Ile, NP_001361326.1:p.Met1Ile, NP_001361325.1:p.Met1Ile

                                  17.

                                  rs1416584569 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:3457774 (GRCh38)
                                    18:3457772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:3457773:A:G
                                    Gene:
                                    TGIF1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.3457774A>G, NC_000018.9:g.3457772A>G, NG_007447.2:g.50701A>G, NM_170695.5:c.593A>G, NM_170695.4:c.1040A>G, NM_170695.3:c.1040A>G, NM_003244.4:c.653A>G, NM_003244.3:c.653A>G, NM_173207.4:c.695A>G, NM_173207.3:c.695A>G, NM_173207.2:c.695A>G, NM_173210.4:c.593A>G, NM_173210.3:c.593A>G, NM_173210.2:c.593A>G, NM_173208.3:c.653A>G, NM_173208.2:c.653A>G, NM_173209.3:c.593A>G, NM_173209.2:c.593A>G, NM_174886.3:c.593A>G, NM_174886.2:c.593A>G, NM_001278686.3:c.593A>G, NM_001278686.2:c.593A>G, NM_001278686.1:c.593A>G, NM_001278684.2:c.653A>G, NM_001278684.1:c.653A>G, NM_001278682.2:c.662A>G, NM_001278682.1:c.662A>G, NM_173211.2:c.593A>G, NM_173211.1:c.593A>G, NM_001374397.1:c.593A>G, NM_001374396.1:c.593A>G, NP_733796.3:p.Asp198Gly, NP_003235.1:p.Asp218Gly, NP_775299.1:p.Asp232Gly, NP_775302.1:p.Asp198Gly, NP_775300.1:p.Asp218Gly, NP_775301.1:p.Asp198Gly, NP_777480.1:p.Asp198Gly, NP_001265615.1:p.Asp198Gly, NP_001265613.1:p.Asp218Gly, NP_001265611.1:p.Asp221Gly, NP_775303.1:p.Asp198Gly, NP_001361326.1:p.Asp198Gly, NP_001361325.1:p.Asp198Gly

                                    18.

                                    rs1404905719 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      18:3457907 (GRCh38)
                                      18:3457905 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:3457906:A:G
                                      Gene:
                                      TGIF1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1399375899 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        18:3456546 (GRCh38)
                                        18:3456544 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:3456545:T:C
                                        Gene:
                                        TGIF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.3456546T>C, NC_000018.9:g.3456544T>C, NG_007447.2:g.49473T>C, NM_170695.5:c.149T>C, NM_170695.4:c.596T>C, NM_170695.3:c.596T>C, NM_003244.4:c.209T>C, NM_003244.3:c.209T>C, NM_173207.4:c.251T>C, NM_173207.3:c.251T>C, NM_173207.2:c.251T>C, NM_173210.4:c.149T>C, NM_173210.3:c.149T>C, NM_173210.2:c.149T>C, NM_173208.3:c.209T>C, NM_173208.2:c.209T>C, NM_173209.3:c.149T>C, NM_173209.2:c.149T>C, NM_174886.3:c.149T>C, NM_174886.2:c.149T>C, NM_001278686.3:c.149T>C, NM_001278686.2:c.149T>C, NM_001278686.1:c.149T>C, NM_001278684.2:c.209T>C, NM_001278684.1:c.209T>C, NM_001278682.2:c.218T>C, NM_001278682.1:c.218T>C, NM_173211.2:c.149T>C, NM_173211.1:c.149T>C, NM_001374397.1:c.149T>C, NM_001374396.1:c.149T>C, NP_733796.3:p.Leu50Ser, NP_003235.1:p.Leu70Ser, NP_775299.1:p.Leu84Ser, NP_775302.1:p.Leu50Ser, NP_775300.1:p.Leu70Ser, NP_775301.1:p.Leu50Ser, NP_777480.1:p.Leu50Ser, NP_001265615.1:p.Leu50Ser, NP_001265613.1:p.Leu70Ser, NP_001265611.1:p.Leu73Ser, NP_775303.1:p.Leu50Ser, NP_001361326.1:p.Leu50Ser, NP_001361325.1:p.Leu50Ser

                                        20.

                                        rs1388523073 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          18:3457386 (GRCh38)
                                          18:3457384 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:3457385:G:C
                                          Gene:
                                          TGIF1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000018.10:g.3457386G>C, NC_000018.9:g.3457384G>C, NG_007447.2:g.50313G>C, NM_170695.5:c.205G>C, NM_170695.4:c.652G>C, NM_170695.3:c.652G>C, NM_003244.4:c.265G>C, NM_003244.3:c.265G>C, NM_173207.4:c.307G>C, NM_173207.3:c.307G>C, NM_173207.2:c.307G>C, NM_173210.4:c.205G>C, NM_173210.3:c.205G>C, NM_173210.2:c.205G>C, NM_173208.3:c.265G>C, NM_173208.2:c.265G>C, NM_173209.3:c.205G>C, NM_173209.2:c.205G>C, NM_174886.3:c.205G>C, NM_174886.2:c.205G>C, NM_001278686.3:c.205G>C, NM_001278686.2:c.205G>C, NM_001278686.1:c.205G>C, NM_001278684.2:c.265G>C, NM_001278684.1:c.265G>C, NM_001278682.2:c.274G>C, NM_001278682.1:c.274G>C, NM_173211.2:c.205G>C, NM_173211.1:c.205G>C, NM_001374397.1:c.205G>C, NM_001374396.1:c.205G>C, NP_733796.3:p.Ala69Pro, NP_003235.1:p.Ala89Pro, NP_775299.1:p.Ala103Pro, NP_775302.1:p.Ala69Pro, NP_775300.1:p.Ala89Pro, NP_775301.1:p.Ala69Pro, NP_777480.1:p.Ala69Pro, NP_001265615.1:p.Ala69Pro, NP_001265613.1:p.Ala89Pro, NP_001265611.1:p.Ala92Pro, NP_775303.1:p.Ala69Pro, NP_001361326.1:p.Ala69Pro, NP_001361325.1:p.Ala69Pro

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