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Items: 1 to 20 of 270

1.

rs1488967936 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:36579879 (GRCh38)
    15:36872080 (GRCh37)
    Canonical SPDI:
    NC_000015.10:36579878:C:T
    Gene:
    CDIN1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000015.10:g.36579879C>T, NC_000015.9:g.36872080C>T, NG_034055.1:g.5277C>T, NM_001130010.3:c.19C>T, NM_001130010.2:c.19C>T, NM_001130010.1:c.19C>T, NM_001321761.2:c.19C>T, NM_001321761.1:c.19C>T, NM_001321759.2:c.19C>T, NM_001321759.1:c.19C>T, NM_001321756.2:c.-230C>T, NM_001321756.1:c.-230C>T, NM_001321760.2:c.19C>T, NM_001321760.1:c.19C>T, NM_001321758.2:c.19C>T, NM_001321758.1:c.19C>T, NM_001321757.2:c.-385C>T, NM_001321757.1:c.-385C>T, NM_001290233.2:c.19C>T, NM_001290233.1:c.19C>T, XM_017022676.2:c.19C>T, XM_017022676.1:c.19C>T, XM_017022677.2:c.19C>T, XM_017022677.1:c.19C>T, XM_047433174.1:c.-331C>T, XM_047433171.1:c.19C>T, XM_047433172.1:c.19C>T, XM_047433175.1:c.19C>T, XR_007064491.1:n.254C>T, XM_047433173.1:c.19C>T, XR_007064492.1:n.254C>T, NP_001123482.1:p.Gln7Ter, NP_001308690.1:p.Gln7Ter, NP_001308688.1:p.Gln7Ter, NP_001308689.1:p.Gln7Ter, NP_001308687.1:p.Gln7Ter, NP_001277162.1:p.Gln7Ter, XP_016878165.1:p.Gln7Ter, XP_016878166.1:p.Gln7Ter, XP_047289127.1:p.Gln7Ter, XP_047289128.1:p.Gln7Ter, XP_047289131.1:p.Gln7Ter, XP_047289129.1:p.Gln7Ter

    2.

    rs1485498898 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:36697378 (GRCh38)
      15:36989579 (GRCh37)
      Canonical SPDI:
      NC_000015.10:36697377:C:T
      Gene:
      CDIN1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1484507860 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        15:36808452 (GRCh38)
        15:37100653 (GRCh37)
        Canonical SPDI:
        NC_000015.10:36808451:G:C,NC_000015.10:36808451:G:T
        Gene:
        CDIN1 (Varview), CSNK1A1P1 (Varview)
        Functional Consequence:
        stop_lost,3_prime_UTR_variant,intron_variant,terminator_codon_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        T=0.000008/2 (GnomAD_exomes)
        C=0.000014/2 (GnomAD)
        HGVS:
        NC_000015.10:g.36808452G>C, NC_000015.10:g.36808452G>T, NC_000015.9:g.37100653G>C, NC_000015.9:g.37100653G>T, NG_034055.1:g.233850G>C, NG_034055.1:g.233850G>T, NM_032499.6:c.551G>C, NM_032499.6:c.551G>T, NM_032499.5:c.551G>C, NM_032499.5:c.551G>T, NM_032499.4:c.551G>C, NM_032499.4:c.551G>T, NM_001130010.3:c.845G>C, NM_001130010.3:c.845G>T, NM_001130010.2:c.845G>C, NM_001130010.2:c.845G>T, NM_001130010.1:c.845G>C, NM_001130010.1:c.845G>T, NM_001321761.2:c.863G>C, NM_001321761.2:c.863G>T, NM_001321761.1:c.863G>C, NM_001321761.1:c.863G>T, NM_001321759.2:c.845G>C, NM_001321759.2:c.845G>T, NM_001321759.1:c.845G>C, NM_001321759.1:c.845G>T, NM_001321756.2:c.551G>C, NM_001321756.2:c.551G>T, NM_001321756.1:c.551G>C, NM_001321756.1:c.551G>T, NM_001321760.2:c.*112G>C, NM_001321760.2:c.*112G>T, NM_001321760.1:c.*112G>C, NM_001321760.1:c.*112G>T, NM_001321758.2:c.734G>C, NM_001321758.2:c.734G>T, NM_001321758.1:c.734G>C, NM_001321758.1:c.734G>T, NM_001290232.2:c.551G>C, NM_001290232.2:c.551G>T, NM_001290232.1:c.551G>C, NM_001290232.1:c.551G>T, NM_001321757.2:c.476G>C, NM_001321757.2:c.476G>T, NM_001321757.1:c.476G>C, NM_001321757.1:c.476G>T, XM_017022676.2:c.647G>C, XM_017022676.2:c.647G>T, XM_017022676.1:c.647G>C, XM_017022676.1:c.647G>T, XM_017022677.2:c.647G>C, XM_017022677.2:c.647G>T, XM_017022677.1:c.647G>C, XM_017022677.1:c.647G>T, XM_047433174.1:c.551G>C, XM_047433174.1:c.551G>T, XM_047433176.1:c.476G>C, XM_047433176.1:c.476G>T, NP_115888.1:p.Ter184Ser, NP_115888.1:p.Ter184Leu, NP_001123482.1:p.Ter282Ser, NP_001123482.1:p.Ter282Leu, NP_001308690.1:p.Ter288Ser, NP_001308690.1:p.Ter288Leu, NP_001308688.1:p.Ter282Ser, NP_001308688.1:p.Ter282Leu, NP_001308685.1:p.Ter184Ser, NP_001308685.1:p.Ter184Leu, NP_001308687.1:p.Ter245Ser, NP_001308687.1:p.Ter245Leu, NP_001277161.1:p.Ter184Ser, NP_001277161.1:p.Ter184Leu, NP_001308686.1:p.Ter159Ser, NP_001308686.1:p.Ter159Leu, XP_016878165.1:p.Ter216Ser, XP_016878165.1:p.Ter216Leu, XP_016878166.1:p.Ter216Ser, XP_016878166.1:p.Ter216Leu, XP_047289130.1:p.Ter184Ser, XP_047289130.1:p.Ter184Leu, XP_047289132.1:p.Ter159Ser, XP_047289132.1:p.Ter159Leu

        4.

        rs1483243679 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:36644313 (GRCh38)
          15:36936514 (GRCh37)
          Canonical SPDI:
          NC_000015.10:36644312:A:G
          Gene:
          CDIN1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          HGVS:
          NC_000015.10:g.36644313A>G, NC_000015.9:g.36936514A>G, NG_034055.1:g.69711A>G, NM_032499.6:c.-158A>G, NM_032499.5:c.-158A>G, NM_032499.4:c.-158A>G, NM_001130010.3:c.137A>G, NM_001130010.2:c.137A>G, NM_001130010.1:c.137A>G, NM_001321761.2:c.137A>G, NM_001321761.1:c.137A>G, NM_001321759.2:c.137A>G, NM_001321759.1:c.137A>G, NM_001321760.2:c.137A>G, NM_001321760.1:c.137A>G, NM_001290232.2:c.-158A>G, NM_001290232.1:c.-158A>G, NM_001321757.2:c.-267A>G, NM_001321757.1:c.-267A>G, NM_001290233.2:c.137A>G, NM_001290233.1:c.137A>G, XM_017022676.2:c.137A>G, XM_017022676.1:c.137A>G, XM_017022677.2:c.137A>G, XM_017022677.1:c.137A>G, XM_047433174.1:c.-158A>G, XM_047433171.1:c.137A>G, XM_047433172.1:c.137A>G, XM_047433175.1:c.137A>G, XR_007064491.1:n.372A>G, XM_047433173.1:c.137A>G, XR_007064492.1:n.372A>G, NP_001123482.1:p.Gln46Arg, NP_001308690.1:p.Gln46Arg, NP_001308688.1:p.Gln46Arg, NP_001308689.1:p.Gln46Arg, NP_001277162.1:p.Gln46Arg, XP_016878165.1:p.Gln46Arg, XP_016878166.1:p.Gln46Arg, XP_047289127.1:p.Gln46Arg, XP_047289128.1:p.Gln46Arg, XP_047289131.1:p.Gln46Arg, XP_047289129.1:p.Gln46Arg

          5.

          rs1482822945 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:36808405 (GRCh38)
            15:37100606 (GRCh37)
            Canonical SPDI:
            NC_000015.10:36808404:A:G
            Gene:
            CDIN1 (Varview), CSNK1A1P1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
            HGVS:

            6.

            rs1482294199 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:36654155 (GRCh38)
              15:36946356 (GRCh37)
              Canonical SPDI:
              NC_000015.10:36654154:T:C
              Gene:
              CDIN1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_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_000015.10:g.36654155T>C, NC_000015.9:g.36946356T>C, NG_034055.1:g.79553T>C, NM_032499.6:c.-25T>C, NM_032499.5:c.-25T>C, NM_032499.4:c.-25T>C, NM_001130010.3:c.270T>C, NM_001130010.2:c.270T>C, NM_001130010.1:c.270T>C, NM_001321761.2:c.270T>C, NM_001321761.1:c.270T>C, NM_001321759.2:c.270T>C, NM_001321759.1:c.270T>C, NM_001321756.2:c.-25T>C, NM_001321756.1:c.-25T>C, NM_001321760.2:c.270T>C, NM_001321760.1:c.270T>C, NM_001321758.2:c.159T>C, NM_001321758.1:c.159T>C, NM_001290232.2:c.-25T>C, NM_001290232.1:c.-25T>C, NM_001321757.2:c.-134T>C, NM_001321757.1:c.-134T>C, NM_001290233.2:c.270T>C, NM_001290233.1:c.270T>C, XM_017022676.2:c.270T>C, XM_017022676.1:c.270T>C, XM_017022677.2:c.270T>C, XM_017022677.1:c.270T>C, XM_047433174.1:c.-25T>C, XM_047433171.1:c.270T>C, XM_047433172.1:c.270T>C, XM_047433175.1:c.270T>C, XR_007064491.1:n.505T>C, XM_047433173.1:c.270T>C, XR_007064492.1:n.505T>C

              7.

              rs1482205707 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                15:36808364 (GRCh38)
                15:37100565 (GRCh37)
                Canonical SPDI:
                NC_000015.10:36808363:C:A,NC_000015.10:36808363:C:G
                Gene:
                CDIN1 (Varview), CSNK1A1P1 (Varview)
                Functional Consequence:
                missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.36808364C>A, NC_000015.10:g.36808364C>G, NC_000015.9:g.37100565C>A, NC_000015.9:g.37100565C>G, NG_034055.1:g.233762C>A, NG_034055.1:g.233762C>G, NM_032499.6:c.463C>A, NM_032499.6:c.463C>G, NM_032499.5:c.463C>A, NM_032499.5:c.463C>G, NM_032499.4:c.463C>A, NM_032499.4:c.463C>G, NM_001130010.3:c.757C>A, NM_001130010.3:c.757C>G, NM_001130010.2:c.757C>A, NM_001130010.2:c.757C>G, NM_001130010.1:c.757C>A, NM_001130010.1:c.757C>G, NM_001321761.2:c.775C>A, NM_001321761.2:c.775C>G, NM_001321761.1:c.775C>A, NM_001321761.1:c.775C>G, NM_001321759.2:c.757C>A, NM_001321759.2:c.757C>G, NM_001321759.1:c.757C>A, NM_001321759.1:c.757C>G, NM_001321756.2:c.463C>A, NM_001321756.2:c.463C>G, NM_001321756.1:c.463C>A, NM_001321756.1:c.463C>G, NM_001321760.2:c.*24C>A, NM_001321760.2:c.*24C>G, NM_001321760.1:c.*24C>A, NM_001321760.1:c.*24C>G, NM_001321758.2:c.646C>A, NM_001321758.2:c.646C>G, NM_001321758.1:c.646C>A, NM_001321758.1:c.646C>G, NM_001290232.2:c.463C>A, NM_001290232.2:c.463C>G, NM_001290232.1:c.463C>A, NM_001290232.1:c.463C>G, NM_001321757.2:c.388C>A, NM_001321757.2:c.388C>G, NM_001321757.1:c.388C>A, NM_001321757.1:c.388C>G, XM_017022676.2:c.559C>A, XM_017022676.2:c.559C>G, XM_017022676.1:c.559C>A, XM_017022676.1:c.559C>G, XM_017022677.2:c.559C>A, XM_017022677.2:c.559C>G, XM_017022677.1:c.559C>A, XM_017022677.1:c.559C>G, XM_047433174.1:c.463C>A, XM_047433174.1:c.463C>G, XM_047433176.1:c.388C>A, XM_047433176.1:c.388C>G, NP_115888.1:p.Gln155Lys, NP_115888.1:p.Gln155Glu, NP_001123482.1:p.Gln253Lys, NP_001123482.1:p.Gln253Glu, NP_001308690.1:p.Gln259Lys, NP_001308690.1:p.Gln259Glu, NP_001308688.1:p.Gln253Lys, NP_001308688.1:p.Gln253Glu, NP_001308685.1:p.Gln155Lys, NP_001308685.1:p.Gln155Glu, NP_001308687.1:p.Gln216Lys, NP_001308687.1:p.Gln216Glu, NP_001277161.1:p.Gln155Lys, NP_001277161.1:p.Gln155Glu, NP_001308686.1:p.Gln130Lys, NP_001308686.1:p.Gln130Glu, XP_016878165.1:p.Gln187Lys, XP_016878165.1:p.Gln187Glu, XP_016878166.1:p.Gln187Lys, XP_016878166.1:p.Gln187Glu, XP_047289130.1:p.Gln155Lys, XP_047289130.1:p.Gln155Glu, XP_047289132.1:p.Gln130Lys, XP_047289132.1:p.Gln130Glu

                8.

                rs1477791550 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:36709961 (GRCh38)
                  15:37002162 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:36709960:G:A
                  Gene:
                  CDIN1 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000015.10:g.36709961G>A, NC_000015.9:g.37002162G>A, NG_034055.1:g.135359G>A, NM_032499.6:c.422G>A, NM_032499.5:c.422G>A, NM_032499.4:c.422G>A, NM_001130010.3:c.716G>A, NM_001130010.2:c.716G>A, NM_001130010.1:c.716G>A, NM_001321761.2:c.734G>A, NM_001321761.1:c.734G>A, NM_001321759.2:c.716G>A, NM_001321759.1:c.716G>A, NM_001321756.2:c.422G>A, NM_001321756.1:c.422G>A, NM_001321758.2:c.605G>A, NM_001321758.1:c.605G>A, NM_001290232.2:c.422G>A, NM_001290232.1:c.422G>A, NM_001321757.2:c.347G>A, NM_001321757.1:c.347G>A, NM_001290233.2:c.716G>A, NM_001290233.1:c.716G>A, XM_017022676.2:c.518G>A, XM_017022676.1:c.518G>A, XM_017022677.2:c.518G>A, XM_017022677.1:c.518G>A, XM_047433174.1:c.422G>A, XM_047433176.1:c.347G>A, NP_115888.1:p.Arg141Lys, NP_001123482.1:p.Arg239Lys, NP_001308690.1:p.Arg245Lys, NP_001308688.1:p.Arg239Lys, NP_001308685.1:p.Arg141Lys, NP_001308687.1:p.Arg202Lys, NP_001277161.1:p.Arg141Lys, NP_001308686.1:p.Arg116Lys, NP_001277162.1:p.Arg239Lys, XP_016878165.1:p.Arg173Lys, XP_016878166.1:p.Arg173Lys, XP_047289130.1:p.Arg141Lys, XP_047289132.1:p.Arg116Lys

                  9.

                  rs1475003047 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    15:36709894 (GRCh38)
                    15:37002095 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:36709893:G:A,NC_000015.10:36709893:G:C
                    Gene:
                    CDIN1 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000015.10:g.36709894G>A, NC_000015.10:g.36709894G>C, NC_000015.9:g.37002095G>A, NC_000015.9:g.37002095G>C, NG_034055.1:g.135292G>A, NG_034055.1:g.135292G>C, NM_032499.6:c.355G>A, NM_032499.6:c.355G>C, NM_032499.5:c.355G>A, NM_032499.5:c.355G>C, NM_032499.4:c.355G>A, NM_032499.4:c.355G>C, NM_001130010.3:c.649G>A, NM_001130010.3:c.649G>C, NM_001130010.2:c.649G>A, NM_001130010.2:c.649G>C, NM_001130010.1:c.649G>A, NM_001130010.1:c.649G>C, NM_001321761.2:c.667G>A, NM_001321761.2:c.667G>C, NM_001321761.1:c.667G>A, NM_001321761.1:c.667G>C, NM_001321759.2:c.649G>A, NM_001321759.2:c.649G>C, NM_001321759.1:c.649G>A, NM_001321759.1:c.649G>C, NM_001321756.2:c.355G>A, NM_001321756.2:c.355G>C, NM_001321756.1:c.355G>A, NM_001321756.1:c.355G>C, NM_001321758.2:c.538G>A, NM_001321758.2:c.538G>C, NM_001321758.1:c.538G>A, NM_001321758.1:c.538G>C, NM_001290232.2:c.355G>A, NM_001290232.2:c.355G>C, NM_001290232.1:c.355G>A, NM_001290232.1:c.355G>C, NM_001321757.2:c.280G>A, NM_001321757.2:c.280G>C, NM_001321757.1:c.280G>A, NM_001321757.1:c.280G>C, NM_001290233.2:c.649G>A, NM_001290233.2:c.649G>C, NM_001290233.1:c.649G>A, NM_001290233.1:c.649G>C, XM_017022676.2:c.451G>A, XM_017022676.2:c.451G>C, XM_017022676.1:c.451G>A, XM_017022676.1:c.451G>C, XM_017022677.2:c.451G>A, XM_017022677.2:c.451G>C, XM_017022677.1:c.451G>A, XM_017022677.1:c.451G>C, XM_047433174.1:c.355G>A, XM_047433174.1:c.355G>C, XM_047433176.1:c.280G>A, XM_047433176.1:c.280G>C, NP_115888.1:p.Ala119Thr, NP_115888.1:p.Ala119Pro, NP_001123482.1:p.Ala217Thr, NP_001123482.1:p.Ala217Pro, NP_001308690.1:p.Ala223Thr, NP_001308690.1:p.Ala223Pro, NP_001308688.1:p.Ala217Thr, NP_001308688.1:p.Ala217Pro, NP_001308685.1:p.Ala119Thr, NP_001308685.1:p.Ala119Pro, NP_001308687.1:p.Ala180Thr, NP_001308687.1:p.Ala180Pro, NP_001277161.1:p.Ala119Thr, NP_001277161.1:p.Ala119Pro, NP_001308686.1:p.Ala94Thr, NP_001308686.1:p.Ala94Pro, NP_001277162.1:p.Ala217Thr, NP_001277162.1:p.Ala217Pro, XP_016878165.1:p.Ala151Thr, XP_016878165.1:p.Ala151Pro, XP_016878166.1:p.Ala151Thr, XP_016878166.1:p.Ala151Pro, XP_047289130.1:p.Ala119Thr, XP_047289130.1:p.Ala119Pro, XP_047289132.1:p.Ala94Thr, XP_047289132.1:p.Ala94Pro

                    10.

                    rs1474042521 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:36697390 (GRCh38)
                      15:36989591 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:36697389:G:A
                      Gene:
                      CDIN1 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.36697390G>A, NC_000015.9:g.36989591G>A, NG_034055.1:g.122788G>A, NM_032499.6:c.250G>A, NM_032499.5:c.250G>A, NM_032499.4:c.250G>A, NM_001130010.3:c.544G>A, NM_001130010.2:c.544G>A, NM_001130010.1:c.544G>A, NM_001321761.2:c.544G>A, NM_001321761.1:c.544G>A, NM_001321759.2:c.544G>A, NM_001321759.1:c.544G>A, NM_001321756.2:c.250G>A, NM_001321756.1:c.250G>A, NM_001321760.2:c.544G>A, NM_001321760.1:c.544G>A, NM_001321758.2:c.433G>A, NM_001321758.1:c.433G>A, NM_001290232.2:c.250G>A, NM_001290232.1:c.250G>A, NM_001321757.2:c.175G>A, NM_001321757.1:c.175G>A, NM_001290233.2:c.544G>A, NM_001290233.1:c.544G>A, XM_047433174.1:c.250G>A, XM_047433176.1:c.175G>A, NP_115888.1:p.Asp84Asn, NP_001123482.1:p.Asp182Asn, NP_001308690.1:p.Asp182Asn, NP_001308688.1:p.Asp182Asn, NP_001308685.1:p.Asp84Asn, NP_001308689.1:p.Asp182Asn, NP_001308687.1:p.Asp145Asn, NP_001277161.1:p.Asp84Asn, NP_001308686.1:p.Asp59Asn, NP_001277162.1:p.Asp182Asn, XP_047289130.1:p.Asp84Asn, XP_047289132.1:p.Asp59Asn

                      11.

                      rs1472693896 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:36645278 (GRCh38)
                        15:36937479 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:36645277:A:G
                        Gene:
                        CDIN1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000015.10:g.36645278A>G, NC_000015.9:g.36937479A>G, NG_034055.1:g.70676A>G, NM_032499.6:c.-92A>G, NM_032499.5:c.-92A>G, NM_032499.4:c.-92A>G, NM_001130010.3:c.203A>G, NM_001130010.2:c.203A>G, NM_001130010.1:c.203A>G, NM_001321761.2:c.203A>G, NM_001321761.1:c.203A>G, NM_001321759.2:c.203A>G, NM_001321759.1:c.203A>G, NM_001321756.2:c.-92A>G, NM_001321756.1:c.-92A>G, NM_001321760.2:c.203A>G, NM_001321760.1:c.203A>G, NM_001290232.2:c.-92A>G, NM_001290232.1:c.-92A>G, NM_001321757.2:c.-201A>G, NM_001321757.1:c.-201A>G, NM_001290233.2:c.203A>G, NM_001290233.1:c.203A>G, XM_017022676.2:c.203A>G, XM_017022676.1:c.203A>G, XM_017022677.2:c.203A>G, XM_017022677.1:c.203A>G, XM_047433174.1:c.-92A>G, XM_047433171.1:c.203A>G, XM_047433172.1:c.203A>G, XM_047433175.1:c.203A>G, XR_007064491.1:n.438A>G, XM_047433173.1:c.203A>G, XR_007064492.1:n.438A>G, NP_001123482.1:p.Tyr68Cys, NP_001308690.1:p.Tyr68Cys, NP_001308688.1:p.Tyr68Cys, NP_001308689.1:p.Tyr68Cys, NP_001277162.1:p.Tyr68Cys, XP_016878165.1:p.Tyr68Cys, XP_016878166.1:p.Tyr68Cys, XP_047289127.1:p.Tyr68Cys, XP_047289128.1:p.Tyr68Cys, XP_047289131.1:p.Tyr68Cys, XP_047289129.1:p.Tyr68Cys

                        12.

                        rs1470302239 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:36579938 (GRCh38)
                          15:36872139 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:36579937:G:A
                          Gene:
                          CDIN1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1470257058 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:36691715 (GRCh38)
                            15:36983916 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:36691714:G:A
                            Gene:
                            CDIN1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000015.10:g.36691715G>A, NC_000015.9:g.36983916G>A, NG_034055.1:g.117113G>A, NM_032499.6:c.83G>A, NM_032499.5:c.83G>A, NM_032499.4:c.83G>A, NM_001130010.3:c.377G>A, NM_001130010.2:c.377G>A, NM_001130010.1:c.377G>A, NM_001321761.2:c.377G>A, NM_001321761.1:c.377G>A, NM_001321759.2:c.377G>A, NM_001321759.1:c.377G>A, NM_001321756.2:c.83G>A, NM_001321756.1:c.83G>A, NM_001321760.2:c.377G>A, NM_001321760.1:c.377G>A, NM_001321758.2:c.266G>A, NM_001321758.1:c.266G>A, NM_001290232.2:c.83G>A, NM_001290232.1:c.83G>A, NM_001321757.2:c.8G>A, NM_001321757.1:c.8G>A, NM_001290233.2:c.377G>A, NM_001290233.1:c.377G>A, XM_047433174.1:c.83G>A, XM_047433176.1:c.8G>A, XM_047433171.1:c.377G>A, XM_047433172.1:c.377G>A, XM_047433175.1:c.377G>A, XR_007064491.1:n.612G>A, XM_047433173.1:c.377G>A, XR_007064492.1:n.612G>A, NP_115888.1:p.Arg28Gln, NP_001123482.1:p.Arg126Gln, NP_001308690.1:p.Arg126Gln, NP_001308688.1:p.Arg126Gln, NP_001308685.1:p.Arg28Gln, NP_001308689.1:p.Arg126Gln, NP_001308687.1:p.Arg89Gln, NP_001277161.1:p.Arg28Gln, NP_001308686.1:p.Arg3Gln, NP_001277162.1:p.Arg126Gln, XP_047289130.1:p.Arg28Gln, XP_047289132.1:p.Arg3Gln, XP_047289127.1:p.Arg126Gln, XP_047289128.1:p.Arg126Gln, XP_047289131.1:p.Arg126Gln, XP_047289129.1:p.Arg126Gln

                            14.

                            rs1468626819 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:36709913 (GRCh38)
                              15:37002114 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:36709912:G:A
                              Gene:
                              CDIN1 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.36709913G>A, NC_000015.9:g.37002114G>A, NG_034055.1:g.135311G>A, NM_032499.6:c.374G>A, NM_032499.5:c.374G>A, NM_032499.4:c.374G>A, NM_001130010.3:c.668G>A, NM_001130010.2:c.668G>A, NM_001130010.1:c.668G>A, NM_001321761.2:c.686G>A, NM_001321761.1:c.686G>A, NM_001321759.2:c.668G>A, NM_001321759.1:c.668G>A, NM_001321756.2:c.374G>A, NM_001321756.1:c.374G>A, NM_001321758.2:c.557G>A, NM_001321758.1:c.557G>A, NM_001290232.2:c.374G>A, NM_001290232.1:c.374G>A, NM_001321757.2:c.299G>A, NM_001321757.1:c.299G>A, NM_001290233.2:c.668G>A, NM_001290233.1:c.668G>A, XM_017022676.2:c.470G>A, XM_017022676.1:c.470G>A, XM_017022677.2:c.470G>A, XM_017022677.1:c.470G>A, XM_047433174.1:c.374G>A, XM_047433176.1:c.299G>A, NP_115888.1:p.Cys125Tyr, NP_001123482.1:p.Cys223Tyr, NP_001308690.1:p.Cys229Tyr, NP_001308688.1:p.Cys223Tyr, NP_001308685.1:p.Cys125Tyr, NP_001308687.1:p.Cys186Tyr, NP_001277161.1:p.Cys125Tyr, NP_001308686.1:p.Cys100Tyr, NP_001277162.1:p.Cys223Tyr, XP_016878165.1:p.Cys157Tyr, XP_016878166.1:p.Cys157Tyr, XP_047289130.1:p.Cys125Tyr, XP_047289132.1:p.Cys100Tyr

                              15.

                              rs1467553369 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:36709284 (GRCh38)
                                15:37001485 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:36709283:A:G
                                Gene:
                                CDIN1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1461119248 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  15:36691752 (GRCh38)
                                  15:36983953 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:36691751:T:G
                                  Gene:
                                  CDIN1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.36691752T>G, NC_000015.9:g.36983953T>G, NG_034055.1:g.117150T>G, NM_032499.6:c.120T>G, NM_032499.5:c.120T>G, NM_032499.4:c.120T>G, NM_001130010.3:c.414T>G, NM_001130010.2:c.414T>G, NM_001130010.1:c.414T>G, NM_001321761.2:c.414T>G, NM_001321761.1:c.414T>G, NM_001321759.2:c.414T>G, NM_001321759.1:c.414T>G, NM_001321756.2:c.120T>G, NM_001321756.1:c.120T>G, NM_001321760.2:c.414T>G, NM_001321760.1:c.414T>G, NM_001321758.2:c.303T>G, NM_001321758.1:c.303T>G, NM_001290232.2:c.120T>G, NM_001290232.1:c.120T>G, NM_001321757.2:c.45T>G, NM_001321757.1:c.45T>G, NM_001290233.2:c.414T>G, NM_001290233.1:c.414T>G, XM_047433174.1:c.120T>G, XM_047433176.1:c.45T>G, XM_047433171.1:c.414T>G, XM_047433172.1:c.414T>G, XM_047433175.1:c.414T>G, XR_007064491.1:n.649T>G, XM_047433173.1:c.414T>G, XR_007064492.1:n.649T>G, NP_115888.1:p.Asn40Lys, NP_001123482.1:p.Asn138Lys, NP_001308690.1:p.Asn138Lys, NP_001308688.1:p.Asn138Lys, NP_001308685.1:p.Asn40Lys, NP_001308689.1:p.Asn138Lys, NP_001308687.1:p.Asn101Lys, NP_001277161.1:p.Asn40Lys, NP_001308686.1:p.Asn15Lys, NP_001277162.1:p.Asn138Lys, XP_047289130.1:p.Asn40Lys, XP_047289132.1:p.Asn15Lys, XP_047289127.1:p.Asn138Lys, XP_047289128.1:p.Asn138Lys, XP_047289131.1:p.Asn138Lys, XP_047289129.1:p.Asn138Lys

                                  17.

                                  rs1454788532 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:36657841 (GRCh38)
                                    15:36950042 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:36657840:T:C
                                    Gene:
                                    CDIN1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000015.10:g.36657841T>C, NC_000015.9:g.36950042T>C, NG_034055.1:g.83239T>C, NM_032499.6:c.-13T>C, NM_032499.5:c.-13T>C, NM_032499.4:c.-13T>C, NM_001130010.3:c.282T>C, NM_001130010.2:c.282T>C, NM_001130010.1:c.282T>C, NM_001321761.2:c.282T>C, NM_001321761.1:c.282T>C, NM_001321759.2:c.282T>C, NM_001321759.1:c.282T>C, NM_001321756.2:c.-13T>C, NM_001321756.1:c.-13T>C, NM_001321760.2:c.282T>C, NM_001321760.1:c.282T>C, NM_001321758.2:c.171T>C, NM_001321758.1:c.171T>C, NM_001290232.2:c.-13T>C, NM_001290232.1:c.-13T>C, NM_001321757.2:c.-122T>C, NM_001321757.1:c.-122T>C, NM_001290233.2:c.282T>C, NM_001290233.1:c.282T>C, XM_017022676.2:c.282T>C, XM_017022676.1:c.282T>C, XM_017022677.2:c.282T>C, XM_017022677.1:c.282T>C, XM_047433174.1:c.-13T>C, XM_047433171.1:c.282T>C, XM_047433172.1:c.282T>C, XM_047433175.1:c.282T>C, XR_007064491.1:n.517T>C, XM_047433173.1:c.282T>C, XR_007064492.1:n.517T>C

                                    18.

                                    rs1429691753 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      15:36645266 (GRCh38)
                                      15:36937467 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:36645265:C:G
                                      Gene:
                                      CDIN1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.36645266C>G, NC_000015.9:g.36937467C>G, NG_034055.1:g.70664C>G, NM_032499.6:c.-104C>G, NM_032499.5:c.-104C>G, NM_032499.4:c.-104C>G, NM_001130010.3:c.191C>G, NM_001130010.2:c.191C>G, NM_001130010.1:c.191C>G, NM_001321761.2:c.191C>G, NM_001321761.1:c.191C>G, NM_001321759.2:c.191C>G, NM_001321759.1:c.191C>G, NM_001321756.2:c.-104C>G, NM_001321756.1:c.-104C>G, NM_001321760.2:c.191C>G, NM_001321760.1:c.191C>G, NM_001290232.2:c.-104C>G, NM_001290232.1:c.-104C>G, NM_001321757.2:c.-213C>G, NM_001321757.1:c.-213C>G, NM_001290233.2:c.191C>G, NM_001290233.1:c.191C>G, XM_017022676.2:c.191C>G, XM_017022676.1:c.191C>G, XM_017022677.2:c.191C>G, XM_017022677.1:c.191C>G, XM_047433174.1:c.-104C>G, XM_047433171.1:c.191C>G, XM_047433172.1:c.191C>G, XM_047433175.1:c.191C>G, XR_007064491.1:n.426C>G, XM_047433173.1:c.191C>G, XR_007064492.1:n.426C>G, NP_001123482.1:p.Ala64Gly, NP_001308690.1:p.Ala64Gly, NP_001308688.1:p.Ala64Gly, NP_001308689.1:p.Ala64Gly, NP_001277162.1:p.Ala64Gly, XP_016878165.1:p.Ala64Gly, XP_016878166.1:p.Ala64Gly, XP_047289127.1:p.Ala64Gly, XP_047289128.1:p.Ala64Gly, XP_047289131.1:p.Ala64Gly, XP_047289129.1:p.Ala64Gly

                                      19.

                                      rs1427852806 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:36691696 (GRCh38)
                                        15:36983897 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:36691695:A:G
                                        Gene:
                                        CDIN1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.36691696A>G, NC_000015.9:g.36983897A>G, NG_034055.1:g.117094A>G, NM_032499.6:c.64A>G, NM_032499.5:c.64A>G, NM_032499.4:c.64A>G, NM_001130010.3:c.358A>G, NM_001130010.2:c.358A>G, NM_001130010.1:c.358A>G, NM_001321761.2:c.358A>G, NM_001321761.1:c.358A>G, NM_001321759.2:c.358A>G, NM_001321759.1:c.358A>G, NM_001321756.2:c.64A>G, NM_001321756.1:c.64A>G, NM_001321760.2:c.358A>G, NM_001321760.1:c.358A>G, NM_001321758.2:c.247A>G, NM_001321758.1:c.247A>G, NM_001290232.2:c.64A>G, NM_001290232.1:c.64A>G, NM_001321757.2:c.-12A>G, NM_001321757.1:c.-12A>G, NM_001290233.2:c.358A>G, NM_001290233.1:c.358A>G, XM_047433174.1:c.64A>G, XM_047433176.1:c.-12A>G, XM_047433171.1:c.358A>G, XM_047433172.1:c.358A>G, XM_047433175.1:c.358A>G, XR_007064491.1:n.593A>G, XM_047433173.1:c.358A>G, XR_007064492.1:n.593A>G, NP_115888.1:p.Ile22Val, NP_001123482.1:p.Ile120Val, NP_001308690.1:p.Ile120Val, NP_001308688.1:p.Ile120Val, NP_001308685.1:p.Ile22Val, NP_001308689.1:p.Ile120Val, NP_001308687.1:p.Ile83Val, NP_001277161.1:p.Ile22Val, NP_001277162.1:p.Ile120Val, XP_047289130.1:p.Ile22Val, XP_047289127.1:p.Ile120Val, XP_047289128.1:p.Ile120Val, XP_047289131.1:p.Ile120Val, XP_047289129.1:p.Ile120Val

                                        20.

                                        rs1424290433 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:36654134 (GRCh38)
                                          15:36946335 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:36654133:A:G
                                          Gene:
                                          CDIN1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000015.10:g.36654134A>G, NC_000015.9:g.36946335A>G, NG_034055.1:g.79532A>G, NM_032499.6:c.-46A>G, NM_032499.5:c.-46A>G, NM_032499.4:c.-46A>G, NM_001130010.3:c.249A>G, NM_001130010.2:c.249A>G, NM_001130010.1:c.249A>G, NM_001321761.2:c.249A>G, NM_001321761.1:c.249A>G, NM_001321759.2:c.249A>G, NM_001321759.1:c.249A>G, NM_001321756.2:c.-46A>G, NM_001321756.1:c.-46A>G, NM_001321760.2:c.249A>G, NM_001321760.1:c.249A>G, NM_001321758.2:c.138A>G, NM_001321758.1:c.138A>G, NM_001290232.2:c.-46A>G, NM_001290232.1:c.-46A>G, NM_001321757.2:c.-155A>G, NM_001321757.1:c.-155A>G, NM_001290233.2:c.249A>G, NM_001290233.1:c.249A>G, XM_017022676.2:c.249A>G, XM_017022676.1:c.249A>G, XM_017022677.2:c.249A>G, XM_017022677.1:c.249A>G, XM_047433174.1:c.-46A>G, XM_047433171.1:c.249A>G, XM_047433172.1:c.249A>G, XM_047433175.1:c.249A>G, XR_007064491.1:n.484A>G, XM_047433173.1:c.249A>G, XR_007064492.1:n.484A>G

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