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Items: 1 to 20 of 342

1.

rs1489454560 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    4:145514785 (GRCh38)
    4:146435937 (GRCh37)
    Canonical SPDI:
    NC_000004.12:145514784:C:A
    Gene:
    SMAD1 (Varview), SMAD1-AS1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000004.12:g.145514785C>A, NC_000004.11:g.146435937C>A, NG_042284.1:g.37987C>A, NM_005900.3:c.172C>A, NM_005900.2:c.172C>A, NM_001354811.1:c.172C>A, NM_001354816.1:c.172C>A, NM_001354817.1:c.172C>A, NM_001354813.1:c.172C>A, NM_001354814.1:c.172C>A, NM_001354812.1:c.172C>A, NM_001003688.1:c.172C>A, XM_011531962.3:c.172C>A, XM_011531962.2:c.172C>A, XM_011531962.1:c.172C>A, XM_011531964.3:c.172C>A, XM_011531964.2:c.172C>A, XM_011531964.1:c.172C>A, XM_047415689.1:c.172C>A, XM_047415688.1:c.172C>A, XM_047415691.1:c.172C>A, XM_047415690.1:c.172C>A, NR_126371.1:n.387G>T, NP_005891.1:p.Pro58Thr, NP_001341740.1:p.Pro58Thr, NP_001341745.1:p.Pro58Thr, NP_001341746.1:p.Pro58Thr, NP_001341742.1:p.Pro58Thr, NP_001341743.1:p.Pro58Thr, NP_001341741.1:p.Pro58Thr, NP_001003688.1:p.Pro58Thr, XP_011530264.1:p.Pro58Thr, XP_011530266.1:p.Pro58Thr, XP_047271645.1:p.Pro58Thr, XP_047271644.1:p.Pro58Thr, XP_047271647.1:p.Pro58Thr, XP_047271646.1:p.Pro58Thr

    2.

    rs1489391654 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:145542695 (GRCh38)
      4:146463847 (GRCh37)
      Canonical SPDI:
      NC_000004.12:145542694:G:A
      Gene:
      SMAD1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000028/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000004.12:g.145542695G>A, NC_000004.11:g.146463847G>A, NG_042284.1:g.65897G>A, NM_005900.3:c.772G>A, NM_005900.2:c.772G>A, NM_001354811.1:c.772G>A, NM_001354816.1:c.772G>A, NM_001354817.1:c.772G>A, NM_001354813.1:c.772G>A, NM_001354814.1:c.772G>A, NM_001354812.1:c.772G>A, NM_001003688.1:c.772G>A, XM_011531962.3:c.772G>A, XM_011531962.2:c.772G>A, XM_011531962.1:c.772G>A, XM_011531964.3:c.772G>A, XM_011531964.2:c.772G>A, XM_011531964.1:c.772G>A, XM_047415689.1:c.772G>A, XM_047415688.1:c.772G>A, XM_047415691.1:c.772G>A, XM_047415690.1:c.772G>A, NP_005891.1:p.Gly258Arg, NP_001341740.1:p.Gly258Arg, NP_001341745.1:p.Gly258Arg, NP_001341746.1:p.Gly258Arg, NP_001341742.1:p.Gly258Arg, NP_001341743.1:p.Gly258Arg, NP_001341741.1:p.Gly258Arg, NP_001003688.1:p.Gly258Arg, XP_011530264.1:p.Gly258Arg, XP_011530266.1:p.Gly258Arg, XP_047271645.1:p.Gly258Arg, XP_047271644.1:p.Gly258Arg, XP_047271647.1:p.Gly258Arg, XP_047271646.1:p.Gly258Arg

      3.

      rs1483794229 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:145546749 (GRCh38)
        4:146467901 (GRCh37)
        Canonical SPDI:
        NC_000004.12:145546748:T:C
        Gene:
        SMAD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000008/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1483244170 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          4:145514640 (GRCh38)
          4:146435792 (GRCh37)
          Canonical SPDI:
          NC_000004.12:145514639:T:A
          Gene:
          SMAD1 (Varview), SMAD1-AS1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.145514640T>A, NC_000004.11:g.146435792T>A, NG_042284.1:g.37842T>A, NM_005900.3:c.27T>A, NM_005900.2:c.27T>A, NM_001354811.1:c.27T>A, NM_001354816.1:c.27T>A, NM_001354817.1:c.27T>A, NM_001354813.1:c.27T>A, NM_001354814.1:c.27T>A, NM_001354812.1:c.27T>A, NM_001003688.1:c.27T>A, XM_011531962.3:c.27T>A, XM_011531962.2:c.27T>A, XM_011531962.1:c.27T>A, XM_011531964.3:c.27T>A, XM_011531964.2:c.27T>A, XM_011531964.1:c.27T>A, XM_047415689.1:c.27T>A, XM_047415688.1:c.27T>A, XM_047415691.1:c.27T>A, XM_047415690.1:c.27T>A, NR_126371.1:n.532A>T, NP_005891.1:p.Phe9Leu, NP_001341740.1:p.Phe9Leu, NP_001341745.1:p.Phe9Leu, NP_001341746.1:p.Phe9Leu, NP_001341742.1:p.Phe9Leu, NP_001341743.1:p.Phe9Leu, NP_001341741.1:p.Phe9Leu, NP_001003688.1:p.Phe9Leu, XP_011530264.1:p.Phe9Leu, XP_011530266.1:p.Phe9Leu, XP_047271645.1:p.Phe9Leu, XP_047271644.1:p.Phe9Leu, XP_047271647.1:p.Phe9Leu, XP_047271646.1:p.Phe9Leu

          5.

          rs1473823248 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:145546767 (GRCh38)
            4:146467919 (GRCh37)
            Canonical SPDI:
            NC_000004.12:145546766:C:T
            Gene:
            SMAD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1471708147 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              4:145539989 (GRCh38)
              4:146461141 (GRCh37)
              Canonical SPDI:
              NC_000004.12:145539988:C:G
              Gene:
              SMAD1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.145539989C>G, NC_000004.11:g.146461141C>G, NG_042284.1:g.63191C>G, NM_005900.3:c.586C>G, NM_005900.2:c.586C>G, NM_001354811.1:c.586C>G, NM_001354816.1:c.586C>G, NM_001354817.1:c.586C>G, NM_001354813.1:c.586C>G, NM_001354814.1:c.586C>G, NM_001354812.1:c.586C>G, NM_001003688.1:c.586C>G, XM_011531962.3:c.586C>G, XM_011531962.2:c.586C>G, XM_011531962.1:c.586C>G, XM_011531964.3:c.586C>G, XM_011531964.2:c.586C>G, XM_011531964.1:c.586C>G, XM_047415689.1:c.586C>G, XM_047415688.1:c.586C>G, XM_047415691.1:c.586C>G, XM_047415690.1:c.586C>G, NM_015583.1:c.223C>G, NP_005891.1:p.Pro196Ala, NP_001341740.1:p.Pro196Ala, NP_001341745.1:p.Pro196Ala, NP_001341746.1:p.Pro196Ala, NP_001341742.1:p.Pro196Ala, NP_001341743.1:p.Pro196Ala, NP_001341741.1:p.Pro196Ala, NP_001003688.1:p.Pro196Ala, XP_011530264.1:p.Pro196Ala, XP_011530266.1:p.Pro196Ala, XP_047271645.1:p.Pro196Ala, XP_047271644.1:p.Pro196Ala, XP_047271647.1:p.Pro196Ala, XP_047271646.1:p.Pro196Ala

              7.

              rs1466114055 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:145514618 (GRCh38)
                4:146435770 (GRCh37)
                Canonical SPDI:
                NC_000004.12:145514617:A:G
                Gene:
                SMAD1 (Varview), SMAD1-AS1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.145514618A>G, NC_000004.11:g.146435770A>G, NG_042284.1:g.37820A>G, NM_005900.3:c.5A>G, NM_005900.2:c.5A>G, NM_001354811.1:c.5A>G, NM_001354816.1:c.5A>G, NM_001354817.1:c.5A>G, NM_001354813.1:c.5A>G, NM_001354814.1:c.5A>G, NM_001354812.1:c.5A>G, NM_001003688.1:c.5A>G, XM_011531962.3:c.5A>G, XM_011531962.2:c.5A>G, XM_011531962.1:c.5A>G, XM_011531964.3:c.5A>G, XM_011531964.2:c.5A>G, XM_011531964.1:c.5A>G, XM_047415689.1:c.5A>G, XM_047415688.1:c.5A>G, XM_047415691.1:c.5A>G, XM_047415690.1:c.5A>G, NR_126371.1:n.554T>C, NP_005891.1:p.Asn2Ser, NP_001341740.1:p.Asn2Ser, NP_001341745.1:p.Asn2Ser, NP_001341746.1:p.Asn2Ser, NP_001341742.1:p.Asn2Ser, NP_001341743.1:p.Asn2Ser, NP_001341741.1:p.Asn2Ser, NP_001003688.1:p.Asn2Ser, XP_011530264.1:p.Asn2Ser, XP_011530266.1:p.Asn2Ser, XP_047271645.1:p.Asn2Ser, XP_047271644.1:p.Asn2Ser, XP_047271647.1:p.Asn2Ser, XP_047271646.1:p.Asn2Ser

                8.

                rs1459921879 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  4:145514737 (GRCh38)
                  4:146435889 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:145514736:A:T
                  Gene:
                  SMAD1 (Varview), SMAD1-AS1 (Varview)
                  Functional Consequence:
                  stop_gained,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by cluster
                  HGVS:
                  NC_000004.12:g.145514737A>T, NC_000004.11:g.146435889A>T, NG_042284.1:g.37939A>T, NM_005900.3:c.124A>T, NM_005900.2:c.124A>T, NM_001354811.1:c.124A>T, NM_001354816.1:c.124A>T, NM_001354817.1:c.124A>T, NM_001354813.1:c.124A>T, NM_001354814.1:c.124A>T, NM_001354812.1:c.124A>T, NM_001003688.1:c.124A>T, XM_011531962.3:c.124A>T, XM_011531962.2:c.124A>T, XM_011531962.1:c.124A>T, XM_011531964.3:c.124A>T, XM_011531964.2:c.124A>T, XM_011531964.1:c.124A>T, XM_047415689.1:c.124A>T, XM_047415688.1:c.124A>T, XM_047415691.1:c.124A>T, XM_047415690.1:c.124A>T, NR_126371.1:n.435T>A, NP_005891.1:p.Lys42Ter, NP_001341740.1:p.Lys42Ter, NP_001341745.1:p.Lys42Ter, NP_001341746.1:p.Lys42Ter, NP_001341742.1:p.Lys42Ter, NP_001341743.1:p.Lys42Ter, NP_001341741.1:p.Lys42Ter, NP_001003688.1:p.Lys42Ter, XP_011530264.1:p.Lys42Ter, XP_011530266.1:p.Lys42Ter, XP_047271645.1:p.Lys42Ter, XP_047271644.1:p.Lys42Ter, XP_047271647.1:p.Lys42Ter, XP_047271646.1:p.Lys42Ter

                  9.

                  rs1457839327 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:145557881 (GRCh38)
                    4:146479033 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:145557880:A:C
                    Gene:
                    SMAD1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.145557881A>C, NC_000004.11:g.146479033A>C, NG_042284.1:g.81083A>C, NM_005900.3:c.1345A>C, NM_005900.2:c.1345A>C, NM_001354811.1:c.1345A>C, NM_001354816.1:c.1345A>C, NM_001354817.1:c.1345A>C, NM_001354813.1:c.1345A>C, NM_001354814.1:c.1345A>C, NM_001354812.1:c.1345A>C, NM_001003688.1:c.1345A>C, XM_011531962.3:c.1345A>C, XM_011531962.2:c.1345A>C, XM_011531962.1:c.1345A>C, XM_011531964.3:c.1345A>C, XM_011531964.2:c.1345A>C, XM_011531964.1:c.1345A>C, XM_047415689.1:c.1345A>C, XM_047415688.1:c.1345A>C, XM_047415691.1:c.1345A>C, XM_047415690.1:c.1345A>C, NP_005891.1:p.Lys449Gln, NP_001341740.1:p.Lys449Gln, NP_001341745.1:p.Lys449Gln, NP_001341746.1:p.Lys449Gln, NP_001341742.1:p.Lys449Gln, NP_001341743.1:p.Lys449Gln, NP_001341741.1:p.Lys449Gln, NP_001003688.1:p.Lys449Gln, XP_011530264.1:p.Lys449Gln, XP_011530266.1:p.Lys449Gln, XP_047271645.1:p.Lys449Gln, XP_047271644.1:p.Lys449Gln, XP_047271647.1:p.Lys449Gln, XP_047271646.1:p.Lys449Gln

                    10.

                    rs1455775916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:145557861 (GRCh38)
                      4:146479013 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:145557860:G:A
                      Gene:
                      SMAD1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.145557861G>A, NC_000004.11:g.146479013G>A, NG_042284.1:g.81063G>A, NM_005900.3:c.1325G>A, NM_005900.2:c.1325G>A, NM_001354811.1:c.1325G>A, NM_001354816.1:c.1325G>A, NM_001354817.1:c.1325G>A, NM_001354813.1:c.1325G>A, NM_001354814.1:c.1325G>A, NM_001354812.1:c.1325G>A, NM_001003688.1:c.1325G>A, XM_011531962.3:c.1325G>A, XM_011531962.2:c.1325G>A, XM_011531962.1:c.1325G>A, XM_011531964.3:c.1325G>A, XM_011531964.2:c.1325G>A, XM_011531964.1:c.1325G>A, XM_047415689.1:c.1325G>A, XM_047415688.1:c.1325G>A, XM_047415691.1:c.1325G>A, XM_047415690.1:c.1325G>A, NP_005891.1:p.Gly442Asp, NP_001341740.1:p.Gly442Asp, NP_001341745.1:p.Gly442Asp, NP_001341746.1:p.Gly442Asp, NP_001341742.1:p.Gly442Asp, NP_001341743.1:p.Gly442Asp, NP_001341741.1:p.Gly442Asp, NP_001003688.1:p.Gly442Asp, XP_011530264.1:p.Gly442Asp, XP_011530266.1:p.Gly442Asp, XP_047271645.1:p.Gly442Asp, XP_047271644.1:p.Gly442Asp, XP_047271647.1:p.Gly442Asp, XP_047271646.1:p.Gly442Asp

                      11.

                      rs1451531477 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:145514973 (GRCh38)
                        4:146436125 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:145514972:C:A
                        Gene:
                        SMAD1 (Varview), SMAD1-AS1 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1451132964 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          4:145553801 (GRCh38)
                          4:146474953 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:145553800:G:T
                          Gene:
                          SMAD1 (Varview)
                          Functional Consequence:
                          missense_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:
                          NC_000004.12:g.145553801G>T, NC_000004.11:g.146474953G>T, NG_042284.1:g.77003G>T, NM_005900.3:c.1015G>T, NM_005900.2:c.1015G>T, NM_001354811.1:c.1015G>T, NM_001354816.1:c.1015G>T, NM_001354817.1:c.1015G>T, NM_001354813.1:c.1015G>T, NM_001354814.1:c.1015G>T, NM_001354812.1:c.1015G>T, NM_001003688.1:c.1015G>T, XM_011531962.3:c.1015G>T, XM_011531962.2:c.1015G>T, XM_011531962.1:c.1015G>T, XM_011531964.3:c.1015G>T, XM_011531964.2:c.1015G>T, XM_011531964.1:c.1015G>T, XM_047415689.1:c.1015G>T, XM_047415688.1:c.1015G>T, XM_047415691.1:c.1015G>T, XM_047415690.1:c.1015G>T, NP_005891.1:p.Val339Phe, NP_001341740.1:p.Val339Phe, NP_001341745.1:p.Val339Phe, NP_001341746.1:p.Val339Phe, NP_001341742.1:p.Val339Phe, NP_001341743.1:p.Val339Phe, NP_001341741.1:p.Val339Phe, NP_001003688.1:p.Val339Phe, XP_011530264.1:p.Val339Phe, XP_011530266.1:p.Val339Phe, XP_047271645.1:p.Val339Phe, XP_047271644.1:p.Val339Phe, XP_047271647.1:p.Val339Phe, XP_047271646.1:p.Val339Phe

                          13.

                          rs1451013268 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:145539972 (GRCh38)
                            4:146461124 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:145539971:G:A
                            Gene:
                            SMAD1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.145539972G>A, NC_000004.11:g.146461124G>A, NG_042284.1:g.63174G>A, NM_005900.3:c.569G>A, NM_005900.2:c.569G>A, NM_001354811.1:c.569G>A, NM_001354816.1:c.569G>A, NM_001354817.1:c.569G>A, NM_001354813.1:c.569G>A, NM_001354814.1:c.569G>A, NM_001354812.1:c.569G>A, NM_001003688.1:c.569G>A, XM_011531962.3:c.569G>A, XM_011531962.2:c.569G>A, XM_011531962.1:c.569G>A, XM_011531964.3:c.569G>A, XM_011531964.2:c.569G>A, XM_011531964.1:c.569G>A, XM_047415689.1:c.569G>A, XM_047415688.1:c.569G>A, XM_047415691.1:c.569G>A, XM_047415690.1:c.569G>A, NM_015583.1:c.206G>A, NP_005891.1:p.Ser190Asn, NP_001341740.1:p.Ser190Asn, NP_001341745.1:p.Ser190Asn, NP_001341746.1:p.Ser190Asn, NP_001341742.1:p.Ser190Asn, NP_001341743.1:p.Ser190Asn, NP_001341741.1:p.Ser190Asn, NP_001003688.1:p.Ser190Asn, XP_011530264.1:p.Ser190Asn, XP_011530266.1:p.Ser190Asn, XP_047271645.1:p.Ser190Asn, XP_047271644.1:p.Ser190Asn, XP_047271647.1:p.Ser190Asn, XP_047271646.1:p.Ser190Asn

                            14.

                            rs1447739675 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              4:145514783 (GRCh38)
                              4:146435935 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:145514782:G:T
                              Gene:
                              SMAD1 (Varview), SMAD1-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.145514783G>T, NC_000004.11:g.146435935G>T, NG_042284.1:g.37985G>T, NM_005900.3:c.170G>T, NM_005900.2:c.170G>T, NM_001354811.1:c.170G>T, NM_001354816.1:c.170G>T, NM_001354817.1:c.170G>T, NM_001354813.1:c.170G>T, NM_001354814.1:c.170G>T, NM_001354812.1:c.170G>T, NM_001003688.1:c.170G>T, XM_011531962.3:c.170G>T, XM_011531962.2:c.170G>T, XM_011531962.1:c.170G>T, XM_011531964.3:c.170G>T, XM_011531964.2:c.170G>T, XM_011531964.1:c.170G>T, XM_047415689.1:c.170G>T, XM_047415688.1:c.170G>T, XM_047415691.1:c.170G>T, XM_047415690.1:c.170G>T, NR_126371.1:n.389C>A, NP_005891.1:p.Cys57Phe, NP_001341740.1:p.Cys57Phe, NP_001341745.1:p.Cys57Phe, NP_001341746.1:p.Cys57Phe, NP_001341742.1:p.Cys57Phe, NP_001341743.1:p.Cys57Phe, NP_001341741.1:p.Cys57Phe, NP_001003688.1:p.Cys57Phe, XP_011530264.1:p.Cys57Phe, XP_011530266.1:p.Cys57Phe, XP_047271645.1:p.Cys57Phe, XP_047271644.1:p.Cys57Phe, XP_047271647.1:p.Cys57Phe, XP_047271646.1:p.Cys57Phe

                              15.

                              rs1446834454 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                4:145546717 (GRCh38)
                                4:146467869 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:145546716:G:A,NC_000004.12:145546716:G:T
                                Gene:
                                SMAD1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/2 (GnomAD_exomes)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000004.12:g.145546717G>A, NC_000004.12:g.145546717G>T, NC_000004.11:g.146467869G>A, NC_000004.11:g.146467869G>T, NG_042284.1:g.69919G>A, NG_042284.1:g.69919G>T, NM_005900.3:c.790G>A, NM_005900.3:c.790G>T, NM_005900.2:c.790G>A, NM_005900.2:c.790G>T, NM_001354811.1:c.790G>A, NM_001354811.1:c.790G>T, NM_001354816.1:c.790G>A, NM_001354816.1:c.790G>T, NM_001354817.1:c.790G>A, NM_001354817.1:c.790G>T, NM_001354813.1:c.790G>A, NM_001354813.1:c.790G>T, NM_001354814.1:c.790G>A, NM_001354814.1:c.790G>T, NM_001354812.1:c.790G>A, NM_001354812.1:c.790G>T, NM_001003688.1:c.790G>A, NM_001003688.1:c.790G>T, XM_011531962.3:c.790G>A, XM_011531962.3:c.790G>T, XM_011531962.2:c.790G>A, XM_011531962.2:c.790G>T, XM_011531962.1:c.790G>A, XM_011531962.1:c.790G>T, XM_011531964.3:c.790G>A, XM_011531964.3:c.790G>T, XM_011531964.2:c.790G>A, XM_011531964.2:c.790G>T, XM_011531964.1:c.790G>A, XM_011531964.1:c.790G>T, XM_047415689.1:c.790G>A, XM_047415689.1:c.790G>T, XM_047415688.1:c.790G>A, XM_047415688.1:c.790G>T, XM_047415691.1:c.790G>A, XM_047415691.1:c.790G>T, XM_047415690.1:c.790G>A, XM_047415690.1:c.790G>T, NP_005891.1:p.Ala264Thr, NP_005891.1:p.Ala264Ser, NP_001341740.1:p.Ala264Thr, NP_001341740.1:p.Ala264Ser, NP_001341745.1:p.Ala264Thr, NP_001341745.1:p.Ala264Ser, NP_001341746.1:p.Ala264Thr, NP_001341746.1:p.Ala264Ser, NP_001341742.1:p.Ala264Thr, NP_001341742.1:p.Ala264Ser, NP_001341743.1:p.Ala264Thr, NP_001341743.1:p.Ala264Ser, NP_001341741.1:p.Ala264Thr, NP_001341741.1:p.Ala264Ser, NP_001003688.1:p.Ala264Thr, NP_001003688.1:p.Ala264Ser, XP_011530264.1:p.Ala264Thr, XP_011530264.1:p.Ala264Ser, XP_011530266.1:p.Ala264Thr, XP_011530266.1:p.Ala264Ser, XP_047271645.1:p.Ala264Thr, XP_047271645.1:p.Ala264Ser, XP_047271644.1:p.Ala264Thr, XP_047271644.1:p.Ala264Ser, XP_047271647.1:p.Ala264Thr, XP_047271647.1:p.Ala264Ser, XP_047271646.1:p.Ala264Thr, XP_047271646.1:p.Ala264Ser

                                16.

                                rs1444311642 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  4:145514914 (GRCh38)
                                  4:146436066 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:145514913:C:A
                                  Gene:
                                  SMAD1 (Varview), SMAD1-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_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.145514914C>A, NC_000004.11:g.146436066C>A, NG_042284.1:g.38116C>A, NM_005900.3:c.301C>A, NM_005900.2:c.301C>A, NM_001354811.1:c.301C>A, NM_001354816.1:c.301C>A, NM_001354817.1:c.301C>A, NM_001354813.1:c.301C>A, NM_001354814.1:c.301C>A, NM_001354812.1:c.301C>A, NM_001003688.1:c.301C>A, XM_011531962.3:c.301C>A, XM_011531962.2:c.301C>A, XM_011531962.1:c.301C>A, XM_011531964.3:c.301C>A, XM_011531964.2:c.301C>A, XM_011531964.1:c.301C>A, XM_047415689.1:c.301C>A, XM_047415688.1:c.301C>A, XM_047415691.1:c.301C>A, XM_047415690.1:c.301C>A, NR_126371.1:n.258G>T, NP_005891.1:p.His101Asn, NP_001341740.1:p.His101Asn, NP_001341745.1:p.His101Asn, NP_001341746.1:p.His101Asn, NP_001341742.1:p.His101Asn, NP_001341743.1:p.His101Asn, NP_001341741.1:p.His101Asn, NP_001003688.1:p.His101Asn, XP_011530264.1:p.His101Asn, XP_011530266.1:p.His101Asn, XP_047271645.1:p.His101Asn, XP_047271644.1:p.His101Asn, XP_047271647.1:p.His101Asn, XP_047271646.1:p.His101Asn

                                  17.

                                  rs1434999063 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    4:145542653 (GRCh38)
                                    4:146463805 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:145542652:A:G,NC_000004.12:145542652:A:T
                                    Gene:
                                    SMAD1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.145542653A>G, NC_000004.12:g.145542653A>T, NC_000004.11:g.146463805A>G, NC_000004.11:g.146463805A>T, NG_042284.1:g.65855A>G, NG_042284.1:g.65855A>T, NM_005900.3:c.730A>G, NM_005900.3:c.730A>T, NM_005900.2:c.730A>G, NM_005900.2:c.730A>T, NM_001354811.1:c.730A>G, NM_001354811.1:c.730A>T, NM_001354816.1:c.730A>G, NM_001354816.1:c.730A>T, NM_001354817.1:c.730A>G, NM_001354817.1:c.730A>T, NM_001354813.1:c.730A>G, NM_001354813.1:c.730A>T, NM_001354814.1:c.730A>G, NM_001354814.1:c.730A>T, NM_001354812.1:c.730A>G, NM_001354812.1:c.730A>T, NM_001003688.1:c.730A>G, NM_001003688.1:c.730A>T, XM_011531962.3:c.730A>G, XM_011531962.3:c.730A>T, XM_011531962.2:c.730A>G, XM_011531962.2:c.730A>T, XM_011531962.1:c.730A>G, XM_011531962.1:c.730A>T, XM_011531964.3:c.730A>G, XM_011531964.3:c.730A>T, XM_011531964.2:c.730A>G, XM_011531964.2:c.730A>T, XM_011531964.1:c.730A>G, XM_011531964.1:c.730A>T, XM_047415689.1:c.730A>G, XM_047415689.1:c.730A>T, XM_047415688.1:c.730A>G, XM_047415688.1:c.730A>T, XM_047415691.1:c.730A>G, XM_047415691.1:c.730A>T, XM_047415690.1:c.730A>G, XM_047415690.1:c.730A>T, NP_005891.1:p.Thr244Ala, NP_005891.1:p.Thr244Ser, NP_001341740.1:p.Thr244Ala, NP_001341740.1:p.Thr244Ser, NP_001341745.1:p.Thr244Ala, NP_001341745.1:p.Thr244Ser, NP_001341746.1:p.Thr244Ala, NP_001341746.1:p.Thr244Ser, NP_001341742.1:p.Thr244Ala, NP_001341742.1:p.Thr244Ser, NP_001341743.1:p.Thr244Ala, NP_001341743.1:p.Thr244Ser, NP_001341741.1:p.Thr244Ala, NP_001341741.1:p.Thr244Ser, NP_001003688.1:p.Thr244Ala, NP_001003688.1:p.Thr244Ser, XP_011530264.1:p.Thr244Ala, XP_011530264.1:p.Thr244Ser, XP_011530266.1:p.Thr244Ala, XP_011530266.1:p.Thr244Ser, XP_047271645.1:p.Thr244Ala, XP_047271645.1:p.Thr244Ser, XP_047271644.1:p.Thr244Ala, XP_047271644.1:p.Thr244Ser, XP_047271647.1:p.Thr244Ala, XP_047271647.1:p.Thr244Ser, XP_047271646.1:p.Thr244Ala, XP_047271646.1:p.Thr244Ser

                                    18.

                                    rs1434190878 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:145539821 (GRCh38)
                                      4:146460973 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:145539820:G:A
                                      Gene:
                                      SMAD1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.145539821G>A, NC_000004.11:g.146460973G>A, NG_042284.1:g.63023G>A, NM_005900.3:c.418G>A, NM_005900.2:c.418G>A, NM_001354811.1:c.418G>A, NM_001354816.1:c.418G>A, NM_001354817.1:c.418G>A, NM_001354813.1:c.418G>A, NM_001354814.1:c.418G>A, NM_001354812.1:c.418G>A, NM_001003688.1:c.418G>A, XM_011531962.3:c.418G>A, XM_011531962.2:c.418G>A, XM_011531962.1:c.418G>A, XM_011531964.3:c.418G>A, XM_011531964.2:c.418G>A, XM_011531964.1:c.418G>A, XM_047415689.1:c.418G>A, XM_047415688.1:c.418G>A, XM_047415691.1:c.418G>A, XM_047415690.1:c.418G>A, NM_015583.1:c.55G>A, NP_005891.1:p.Val140Ile, NP_001341740.1:p.Val140Ile, NP_001341745.1:p.Val140Ile, NP_001341746.1:p.Val140Ile, NP_001341742.1:p.Val140Ile, NP_001341743.1:p.Val140Ile, NP_001341741.1:p.Val140Ile, NP_001003688.1:p.Val140Ile, XP_011530264.1:p.Val140Ile, XP_011530266.1:p.Val140Ile, XP_047271645.1:p.Val140Ile, XP_047271644.1:p.Val140Ile, XP_047271647.1:p.Val140Ile, XP_047271646.1:p.Val140Ile

                                      19.

                                      rs1431189199 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:145539915 (GRCh38)
                                        4:146461067 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:145539914:C:T
                                        Gene:
                                        SMAD1 (Varview)
                                        Functional Consequence:
                                        missense_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)
                                        T=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.145539915C>T, NC_000004.11:g.146461067C>T, NG_042284.1:g.63117C>T, NM_005900.3:c.512C>T, NM_005900.2:c.512C>T, NM_001354811.1:c.512C>T, NM_001354816.1:c.512C>T, NM_001354817.1:c.512C>T, NM_001354813.1:c.512C>T, NM_001354814.1:c.512C>T, NM_001354812.1:c.512C>T, NM_001003688.1:c.512C>T, XM_011531962.3:c.512C>T, XM_011531962.2:c.512C>T, XM_011531962.1:c.512C>T, XM_011531964.3:c.512C>T, XM_011531964.2:c.512C>T, XM_011531964.1:c.512C>T, XM_047415689.1:c.512C>T, XM_047415688.1:c.512C>T, XM_047415691.1:c.512C>T, XM_047415690.1:c.512C>T, NM_015583.1:c.149C>T, NP_005891.1:p.Thr171Ile, NP_001341740.1:p.Thr171Ile, NP_001341745.1:p.Thr171Ile, NP_001341746.1:p.Thr171Ile, NP_001341742.1:p.Thr171Ile, NP_001341743.1:p.Thr171Ile, NP_001341741.1:p.Thr171Ile, NP_001003688.1:p.Thr171Ile, XP_011530264.1:p.Thr171Ile, XP_011530266.1:p.Thr171Ile, XP_047271645.1:p.Thr171Ile, XP_047271644.1:p.Thr171Ile, XP_047271647.1:p.Thr171Ile, XP_047271646.1:p.Thr171Ile

                                        20.

                                        rs1427144576 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:145514651 (GRCh38)
                                          4:146435803 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:145514650:C:T
                                          Gene:
                                          SMAD1 (Varview), SMAD1-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.145514651C>T, NC_000004.11:g.146435803C>T, NG_042284.1:g.37853C>T, NM_005900.3:c.38C>T, NM_005900.2:c.38C>T, NM_001354811.1:c.38C>T, NM_001354816.1:c.38C>T, NM_001354817.1:c.38C>T, NM_001354813.1:c.38C>T, NM_001354814.1:c.38C>T, NM_001354812.1:c.38C>T, NM_001003688.1:c.38C>T, XM_011531962.3:c.38C>T, XM_011531962.2:c.38C>T, XM_011531962.1:c.38C>T, XM_011531964.3:c.38C>T, XM_011531964.2:c.38C>T, XM_011531964.1:c.38C>T, XM_047415689.1:c.38C>T, XM_047415688.1:c.38C>T, XM_047415691.1:c.38C>T, XM_047415690.1:c.38C>T, NR_126371.1:n.521G>A, NP_005891.1:p.Ala13Val, NP_001341740.1:p.Ala13Val, NP_001341745.1:p.Ala13Val, NP_001341746.1:p.Ala13Val, NP_001341742.1:p.Ala13Val, NP_001341743.1:p.Ala13Val, NP_001341741.1:p.Ala13Val, NP_001003688.1:p.Ala13Val, XP_011530264.1:p.Ala13Val, XP_011530266.1:p.Ala13Val, XP_047271645.1:p.Ala13Val, XP_047271644.1:p.Ala13Val, XP_047271647.1:p.Ala13Val, XP_047271646.1:p.Ala13Val

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