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Items: 1 to 20 of 247

1.

rs1488411250 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    14:24305970 (GRCh38)
    14:24775176 (GRCh37)
    Canonical SPDI:
    NC_000014.9:24305969:T:C
    Gene:
    CIDEB (Varview), NOP9 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1487539689 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      14:24306468 (GRCh38)
      14:24775674 (GRCh37)
      Canonical SPDI:
      NC_000014.9:24306467:CC:C
      Gene:
      CIDEB (Varview), NOP9 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000014.9:g.24306469del, NW_018654722.1:g.607447del, NC_000014.8:g.24775675del, NM_014430.4:c.242del, NM_014430.3:c.242del, NM_014430.2:c.242del, NM_174913.3:c.*1374del, NM_174913.2:c.*1374del, XM_011536526.3:c.*1374del, XM_011536526.2:c.*1374del, XM_011536526.1:c.*1374del, NM_001318807.3:c.242del, NM_001318807.2:c.242del, NM_001318807.1:c.242del, XM_005267385.2:c.*1374del, XM_005267385.1:c.*1374del, NM_001286367.2:c.*1511del, NM_001286367.1:c.*1511del, XM_047431054.1:c.*1374del, XM_047431053.1:c.*1374del, XM_047431055.1:c.*1374del, NM_001393334.1:c.242del, NM_001393338.1:c.242del, NM_001393337.1:c.242del, NM_001393335.1:c.242del, NM_001393336.1:c.242del, NM_001393339.1:c.242del, XM_047431052.1:c.*1374del, NP_055245.2:p.Gly81fs, NP_001305736.1:p.Gly81fs, NP_001380263.1:p.Gly81fs, NP_001380267.1:p.Gly81fs, NP_001380266.1:p.Gly81fs, NP_001380264.1:p.Gly81fs, NP_001380265.1:p.Gly81fs, NP_001380268.1:p.Gly81fs

      3.

      rs1483783615 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        14:24307379 (GRCh38)
        14:24776585 (GRCh37)
        Canonical SPDI:
        NC_000014.9:24307378:G:C
        Gene:
        CIDEB (Varview), NOP9 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.24307379G>C, NW_018654722.1:g.608357G>C, NC_000014.8:g.24776585G>C, NM_014430.4:c.178C>G, NM_014430.3:c.178C>G, NM_014430.2:c.178C>G, NM_174913.3:c.*2284G>C, NM_174913.2:c.*2284G>C, XM_011536526.3:c.*2284G>C, XM_011536526.2:c.*2284G>C, XM_011536526.1:c.*2284G>C, NM_001318807.3:c.178C>G, NM_001318807.2:c.178C>G, NM_001318807.1:c.178C>G, XM_005267385.2:c.*2284G>C, XM_005267385.1:c.*2284G>C, NM_001286367.2:c.*2421G>C, NM_001286367.1:c.*2421G>C, XM_047431054.1:c.*2284G>C, XM_047431053.1:c.*2284G>C, NM_001393334.1:c.178C>G, NM_001393337.1:c.178C>G, NM_001393335.1:c.178C>G, NM_001393336.1:c.178C>G, NM_001393339.1:c.178C>G, NM_001393338.1:c.178C>G, NM_001393340.1:c.178C>G, XM_047431052.1:c.*2284G>C, XM_047431055.1:c.*2284G>C, NP_055245.2:p.Leu60Val, NP_001305736.1:p.Leu60Val, NP_001380263.1:p.Leu60Val, NP_001380266.1:p.Leu60Val, NP_001380264.1:p.Leu60Val, NP_001380265.1:p.Leu60Val, NP_001380268.1:p.Leu60Val, NP_001380267.1:p.Leu60Val, NP_001380269.1:p.Leu60Val

        4.

        rs1483638001 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:24306375 (GRCh38)
          14:24775581 (GRCh37)
          Canonical SPDI:
          NC_000014.9:24306374:C:T
          Gene:
          CIDEB (Varview), NOP9 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000014.9:g.24306375C>T, NW_018654722.1:g.607353C>T, NC_000014.8:g.24775581C>T, NM_014430.4:c.335G>A, NM_014430.3:c.335G>A, NM_014430.2:c.335G>A, NM_174913.3:c.*1280C>T, NM_174913.2:c.*1280C>T, XM_011536526.3:c.*1280C>T, XM_011536526.2:c.*1280C>T, XM_011536526.1:c.*1280C>T, NM_001318807.3:c.335G>A, NM_001318807.2:c.335G>A, NM_001318807.1:c.335G>A, XM_005267385.2:c.*1280C>T, XM_005267385.1:c.*1280C>T, NM_001286367.2:c.*1417C>T, NM_001286367.1:c.*1417C>T, XM_047431054.1:c.*1280C>T, XM_047431053.1:c.*1280C>T, XM_047431055.1:c.*1280C>T, NM_001393334.1:c.335G>A, NM_001393338.1:c.335G>A, NM_001393337.1:c.335G>A, NM_001393335.1:c.335G>A, NM_001393336.1:c.335G>A, NM_001393339.1:c.335G>A, XM_047431052.1:c.*1280C>T, NP_055245.2:p.Arg112Lys, NP_001305736.1:p.Arg112Lys, NP_001380263.1:p.Arg112Lys, NP_001380267.1:p.Arg112Lys, NP_001380266.1:p.Arg112Lys, NP_001380264.1:p.Arg112Lys, NP_001380265.1:p.Arg112Lys, NP_001380268.1:p.Arg112Lys

          5.

          rs1481625414 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            14:24307428 (GRCh38)
            14:24776634 (GRCh37)
            Canonical SPDI:
            NC_000014.9:24307427:G:C
            Gene:
            CIDEB (Varview), NOP9 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_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_000014.9:g.24307428G>C, NW_018654722.1:g.608406G>C, NC_000014.8:g.24776634G>C, NM_014430.4:c.129C>G, NM_014430.3:c.129C>G, NM_014430.2:c.129C>G, NM_174913.3:c.*2333G>C, NM_174913.2:c.*2333G>C, XM_011536526.3:c.*2333G>C, XM_011536526.2:c.*2333G>C, XM_011536526.1:c.*2333G>C, NM_001318807.3:c.129C>G, NM_001318807.2:c.129C>G, NM_001318807.1:c.129C>G, XM_005267385.2:c.*2333G>C, XM_005267385.1:c.*2333G>C, NM_001286367.2:c.*2470G>C, NM_001286367.1:c.*2470G>C, XM_047431054.1:c.*2333G>C, XM_047431053.1:c.*2333G>C, XM_047431055.1:c.*2333G>C, NM_001393334.1:c.129C>G, NM_001393338.1:c.129C>G, NM_001393337.1:c.129C>G, NM_001393335.1:c.129C>G, NM_001393336.1:c.129C>G, NM_001393339.1:c.129C>G, NM_001393340.1:c.129C>G, XM_047431052.1:c.*2333G>C, NP_055245.2:p.His43Gln, NP_001305736.1:p.His43Gln, NP_001380263.1:p.His43Gln, NP_001380267.1:p.His43Gln, NP_001380266.1:p.His43Gln, NP_001380264.1:p.His43Gln, NP_001380265.1:p.His43Gln, NP_001380268.1:p.His43Gln, NP_001380269.1:p.His43Gln

            6.

            rs1476915340 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:24305681 (GRCh38)
              14:24774887 (GRCh37)
              Canonical SPDI:
              NC_000014.9:24305680:C:A
              Gene:
              CIDEB (Varview), NOP9 (Varview)
              Functional Consequence:
              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1472637755 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                14:24306039 (GRCh38)
                14:24775245 (GRCh37)
                Canonical SPDI:
                NC_000014.9:24306038:G:C
                Gene:
                CIDEB (Varview), NOP9 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000056/2 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.24306039G>C, NW_018654722.1:g.607017G>C, NC_000014.8:g.24775245G>C, NM_014430.4:c.435C>G, NM_014430.3:c.435C>G, NM_014430.2:c.435C>G, NM_174913.3:c.*944G>C, NM_174913.2:c.*944G>C, XM_011536526.3:c.*944G>C, XM_011536526.2:c.*944G>C, XM_011536526.1:c.*944G>C, NM_001318807.3:c.435C>G, NM_001318807.2:c.435C>G, NM_001318807.1:c.435C>G, XM_005267385.2:c.*944G>C, XM_005267385.1:c.*944G>C, NM_001286367.2:c.*1081G>C, NM_001286367.1:c.*1081G>C, XM_047431054.1:c.*944G>C, XM_047431053.1:c.*944G>C, NM_001393334.1:c.435C>G, NM_001393337.1:c.435C>G, NM_001393335.1:c.435C>G, NM_001393336.1:c.435C>G, NM_001393339.1:c.435C>G, NM_001393338.1:c.435C>G, NM_001393340.1:c.285C>G, XM_047431052.1:c.*944G>C, XM_047431055.1:c.*944G>C, NP_055245.2:p.Asp145Glu, NP_001305736.1:p.Asp145Glu, NP_001380263.1:p.Asp145Glu, NP_001380266.1:p.Asp145Glu, NP_001380264.1:p.Asp145Glu, NP_001380265.1:p.Asp145Glu, NP_001380268.1:p.Asp145Glu, NP_001380267.1:p.Asp145Glu, NP_001380269.1:p.Asp95Glu

                8.

                rs1472528957 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  14:24305707 (GRCh38)
                  14:24774913 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:24305706:T:C
                  Gene:
                  CIDEB (Varview), NOP9 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000014.9:g.24305707T>C, NW_018654722.1:g.606685T>C, NC_000014.8:g.24774913T>C, NM_014430.4:c.586A>G, NM_014430.3:c.586A>G, NM_014430.2:c.586A>G, NM_174913.3:c.*612T>C, NM_174913.2:c.*612T>C, XM_011536526.3:c.*612T>C, XM_011536526.2:c.*612T>C, XM_011536526.1:c.*612T>C, NM_001318807.3:c.586A>G, NM_001318807.2:c.586A>G, NM_001318807.1:c.586A>G, XM_005267385.2:c.*612T>C, XM_005267385.1:c.*612T>C, NM_001286367.2:c.*749T>C, NM_001286367.1:c.*749T>C, XM_047431054.1:c.*612T>C, XM_047431053.1:c.*612T>C, XM_047431055.1:c.*612T>C, NM_001393334.1:c.586A>G, NM_001393338.1:c.586A>G, NM_001393337.1:c.586A>G, NM_001393335.1:c.586A>G, NM_001393336.1:c.586A>G, NM_001393339.1:c.586A>G, NM_001393340.1:c.436A>G, XM_047431052.1:c.*612T>C, NP_055245.2:p.Ile196Val, NP_001305736.1:p.Ile196Val, NP_001380263.1:p.Ile196Val, NP_001380267.1:p.Ile196Val, NP_001380266.1:p.Ile196Val, NP_001380264.1:p.Ile196Val, NP_001380265.1:p.Ile196Val, NP_001380268.1:p.Ile196Val, NP_001380269.1:p.Ile146Val

                  9.

                  rs1465701305 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    14:24307397 (GRCh38)
                    14:24776603 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:24307396:C:G
                    Gene:
                    CIDEB (Varview), NOP9 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000014.9:g.24307397C>G, NW_018654722.1:g.608375C>G, NC_000014.8:g.24776603C>G, NM_014430.4:c.160G>C, NM_014430.3:c.160G>C, NM_014430.2:c.160G>C, NM_174913.3:c.*2302C>G, NM_174913.2:c.*2302C>G, XM_011536526.3:c.*2302C>G, XM_011536526.2:c.*2302C>G, XM_011536526.1:c.*2302C>G, NM_001318807.3:c.160G>C, NM_001318807.2:c.160G>C, NM_001318807.1:c.160G>C, XM_005267385.2:c.*2302C>G, XM_005267385.1:c.*2302C>G, NM_001286367.2:c.*2439C>G, NM_001286367.1:c.*2439C>G, XM_047431054.1:c.*2302C>G, XM_047431053.1:c.*2302C>G, XM_047431055.1:c.*2302C>G, NM_001393334.1:c.160G>C, NM_001393338.1:c.160G>C, NM_001393337.1:c.160G>C, NM_001393335.1:c.160G>C, NM_001393336.1:c.160G>C, NM_001393339.1:c.160G>C, NM_001393340.1:c.160G>C, XM_047431052.1:c.*2302C>G, NP_055245.2:p.Ala54Pro, NP_001305736.1:p.Ala54Pro, NP_001380263.1:p.Ala54Pro, NP_001380267.1:p.Ala54Pro, NP_001380266.1:p.Ala54Pro, NP_001380264.1:p.Ala54Pro, NP_001380265.1:p.Ala54Pro, NP_001380268.1:p.Ala54Pro, NP_001380269.1:p.Ala54Pro

                    10.

                    rs1459313856 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      14:24306522 (GRCh38)
                      14:24775728 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:24306521:G:T
                      Gene:
                      CIDEB (Varview), NOP9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.24306522G>T, NW_018654722.1:g.607500G>T, NC_000014.8:g.24775728G>T, NM_014430.4:c.188C>A, NM_014430.3:c.188C>A, NM_014430.2:c.188C>A, NM_174913.3:c.*1427G>T, NM_174913.2:c.*1427G>T, XM_011536526.3:c.*1427G>T, XM_011536526.2:c.*1427G>T, XM_011536526.1:c.*1427G>T, NM_001318807.3:c.188C>A, NM_001318807.2:c.188C>A, NM_001318807.1:c.188C>A, XM_005267385.2:c.*1427G>T, XM_005267385.1:c.*1427G>T, NM_001286367.2:c.*1564G>T, NM_001286367.1:c.*1564G>T, XM_047431054.1:c.*1427G>T, XM_047431053.1:c.*1427G>T, XM_047431055.1:c.*1427G>T, NM_001393334.1:c.188C>A, NM_001393338.1:c.188C>A, NM_001393337.1:c.188C>A, NM_001393335.1:c.188C>A, NM_001393336.1:c.188C>A, NM_001393339.1:c.188C>A, XM_047431052.1:c.*1427G>T, NP_055245.2:p.Ala63Glu, NP_001305736.1:p.Ala63Glu, NP_001380263.1:p.Ala63Glu, NP_001380267.1:p.Ala63Glu, NP_001380266.1:p.Ala63Glu, NP_001380264.1:p.Ala63Glu, NP_001380265.1:p.Ala63Glu, NP_001380268.1:p.Ala63Glu

                      11.

                      rs1454208041 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        14:24307376 (GRCh38)
                        14:24776582 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:24307375:C:G
                        Gene:
                        CIDEB (Varview), NOP9 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000014.9:g.24307376C>G, NW_018654722.1:g.608354C>G, NC_000014.8:g.24776582C>G, NM_014430.4:c.181G>C, NM_014430.3:c.181G>C, NM_014430.2:c.181G>C, NM_174913.3:c.*2281C>G, NM_174913.2:c.*2281C>G, XM_011536526.3:c.*2281C>G, XM_011536526.2:c.*2281C>G, XM_011536526.1:c.*2281C>G, NM_001318807.3:c.181G>C, NM_001318807.2:c.181G>C, NM_001318807.1:c.181G>C, XM_005267385.2:c.*2281C>G, XM_005267385.1:c.*2281C>G, NM_001286367.2:c.*2418C>G, NM_001286367.1:c.*2418C>G, XM_047431054.1:c.*2281C>G, XM_047431053.1:c.*2281C>G, NM_001393334.1:c.181G>C, NM_001393337.1:c.181G>C, NM_001393335.1:c.181G>C, NM_001393336.1:c.181G>C, NM_001393339.1:c.181G>C, NM_001393338.1:c.181G>C, NM_001393340.1:c.181G>C, XM_047431052.1:c.*2281C>G, XM_047431055.1:c.*2281C>G, NP_055245.2:p.Ala61Pro, NP_001305736.1:p.Ala61Pro, NP_001380263.1:p.Ala61Pro, NP_001380266.1:p.Ala61Pro, NP_001380264.1:p.Ala61Pro, NP_001380265.1:p.Ala61Pro, NP_001380268.1:p.Ala61Pro, NP_001380267.1:p.Ala61Pro, NP_001380269.1:p.Ala61Pro

                        12.

                        rs1453230836 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          14:24306384 (GRCh38)
                          14:24775590 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:24306383:C:G,NC_000014.9:24306383:C:T
                          Gene:
                          CIDEB (Varview), NOP9 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_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_000014.9:g.24306384C>G, NC_000014.9:g.24306384C>T, NW_018654722.1:g.607362C>G, NW_018654722.1:g.607362C>T, NC_000014.8:g.24775590C>G, NC_000014.8:g.24775590C>T, NM_014430.4:c.326G>C, NM_014430.4:c.326G>A, NM_014430.3:c.326G>C, NM_014430.3:c.326G>A, NM_014430.2:c.326G>C, NM_014430.2:c.326G>A, NM_174913.3:c.*1289C>G, NM_174913.3:c.*1289C>T, NM_174913.2:c.*1289C>G, NM_174913.2:c.*1289C>T, XM_011536526.3:c.*1289C>G, XM_011536526.3:c.*1289C>T, XM_011536526.2:c.*1289C>G, XM_011536526.2:c.*1289C>T, XM_011536526.1:c.*1289C>G, XM_011536526.1:c.*1289C>T, NM_001318807.3:c.326G>C, NM_001318807.3:c.326G>A, NM_001318807.2:c.326G>C, NM_001318807.2:c.326G>A, NM_001318807.1:c.326G>C, NM_001318807.1:c.326G>A, XM_005267385.2:c.*1289C>G, XM_005267385.2:c.*1289C>T, XM_005267385.1:c.*1289C>G, XM_005267385.1:c.*1289C>T, NM_001286367.2:c.*1426C>G, NM_001286367.2:c.*1426C>T, NM_001286367.1:c.*1426C>G, NM_001286367.1:c.*1426C>T, XM_047431054.1:c.*1289C>G, XM_047431054.1:c.*1289C>T, XM_047431053.1:c.*1289C>G, XM_047431053.1:c.*1289C>T, NM_001393334.1:c.326G>C, NM_001393334.1:c.326G>A, NM_001393337.1:c.326G>C, NM_001393337.1:c.326G>A, NM_001393335.1:c.326G>C, NM_001393335.1:c.326G>A, NM_001393336.1:c.326G>C, NM_001393336.1:c.326G>A, NM_001393339.1:c.326G>C, NM_001393339.1:c.326G>A, NM_001393338.1:c.326G>C, NM_001393338.1:c.326G>A, XM_047431052.1:c.*1289C>G, XM_047431052.1:c.*1289C>T, XM_047431055.1:c.*1289C>G, XM_047431055.1:c.*1289C>T, NP_055245.2:p.Ser109Thr, NP_055245.2:p.Ser109Asn, NP_001305736.1:p.Ser109Thr, NP_001305736.1:p.Ser109Asn, NP_001380263.1:p.Ser109Thr, NP_001380263.1:p.Ser109Asn, NP_001380266.1:p.Ser109Thr, NP_001380266.1:p.Ser109Asn, NP_001380264.1:p.Ser109Thr, NP_001380264.1:p.Ser109Asn, NP_001380265.1:p.Ser109Thr, NP_001380265.1:p.Ser109Asn, NP_001380268.1:p.Ser109Thr, NP_001380268.1:p.Ser109Asn, NP_001380267.1:p.Ser109Thr, NP_001380267.1:p.Ser109Asn

                          13.

                          rs1448120283 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:24305978 (GRCh38)
                            14:24775184 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:24305977:A:G
                            Gene:
                            CIDEB (Varview), NOP9 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000014.9:g.24305978A>G, NW_018654722.1:g.606956A>G, NC_000014.8:g.24775184A>G, NM_014430.4:c.496T>C, NM_014430.3:c.496T>C, NM_014430.2:c.496T>C, NM_174913.3:c.*883A>G, NM_174913.2:c.*883A>G, XM_011536526.3:c.*883A>G, XM_011536526.2:c.*883A>G, XM_011536526.1:c.*883A>G, NM_001318807.3:c.496T>C, NM_001318807.2:c.496T>C, NM_001318807.1:c.496T>C, XM_005267385.2:c.*883A>G, XM_005267385.1:c.*883A>G, NM_001286367.2:c.*1020A>G, NM_001286367.1:c.*1020A>G, XM_047431054.1:c.*883A>G, XM_047431053.1:c.*883A>G, NM_001393334.1:c.496T>C, NM_001393337.1:c.496T>C, NM_001393335.1:c.496T>C, NM_001393336.1:c.496T>C, NM_001393339.1:c.496T>C, NM_001393338.1:c.496T>C, NM_001393340.1:c.346T>C, XM_047431052.1:c.*883A>G, XM_047431055.1:c.*883A>G, NP_055245.2:p.Phe166Leu, NP_001305736.1:p.Phe166Leu, NP_001380263.1:p.Phe166Leu, NP_001380266.1:p.Phe166Leu, NP_001380264.1:p.Phe166Leu, NP_001380265.1:p.Phe166Leu, NP_001380268.1:p.Phe166Leu, NP_001380267.1:p.Phe166Leu, NP_001380269.1:p.Phe116Leu

                            14.

                            rs1447865591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              14:24307502 (GRCh38)
                              14:24776708 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:24307501:T:A,NC_000014.9:24307501:T:C
                              Gene:
                              CIDEB (Varview), NOP9 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.24307502T>A, NC_000014.9:g.24307502T>C, NW_018654722.1:g.608480T>A, NW_018654722.1:g.608480T>C, NC_000014.8:g.24776708T>A, NC_000014.8:g.24776708T>C, NM_014430.4:c.55A>T, NM_014430.4:c.55A>G, NM_014430.3:c.55A>T, NM_014430.3:c.55A>G, NM_014430.2:c.55A>T, NM_014430.2:c.55A>G, NM_174913.3:c.*2407T>A, NM_174913.3:c.*2407T>C, NM_174913.2:c.*2407T>A, NM_174913.2:c.*2407T>C, XM_011536526.3:c.*2407T>A, XM_011536526.3:c.*2407T>C, XM_011536526.2:c.*2407T>A, XM_011536526.2:c.*2407T>C, XM_011536526.1:c.*2407T>A, XM_011536526.1:c.*2407T>C, NM_001318807.3:c.55A>T, NM_001318807.3:c.55A>G, NM_001318807.2:c.55A>T, NM_001318807.2:c.55A>G, NM_001318807.1:c.55A>T, NM_001318807.1:c.55A>G, XM_005267385.2:c.*2407T>A, XM_005267385.2:c.*2407T>C, XM_005267385.1:c.*2407T>A, XM_005267385.1:c.*2407T>C, NM_001286367.2:c.*2544T>A, NM_001286367.2:c.*2544T>C, NM_001286367.1:c.*2544T>A, NM_001286367.1:c.*2544T>C, XM_047431054.1:c.*2407T>A, XM_047431054.1:c.*2407T>C, XM_047431053.1:c.*2407T>A, XM_047431053.1:c.*2407T>C, XM_047431055.1:c.*2407T>A, XM_047431055.1:c.*2407T>C, NM_001393334.1:c.55A>T, NM_001393334.1:c.55A>G, NM_001393338.1:c.55A>T, NM_001393338.1:c.55A>G, NM_001393337.1:c.55A>T, NM_001393337.1:c.55A>G, NM_001393335.1:c.55A>T, NM_001393335.1:c.55A>G, NM_001393336.1:c.55A>T, NM_001393336.1:c.55A>G, NM_001393339.1:c.55A>T, NM_001393339.1:c.55A>G, NM_001393340.1:c.55A>T, NM_001393340.1:c.55A>G, XM_047431052.1:c.*2407T>A, XM_047431052.1:c.*2407T>C, NP_055245.2:p.Ile19Leu, NP_055245.2:p.Ile19Val, NP_001305736.1:p.Ile19Leu, NP_001305736.1:p.Ile19Val, NP_001380263.1:p.Ile19Leu, NP_001380263.1:p.Ile19Val, NP_001380267.1:p.Ile19Leu, NP_001380267.1:p.Ile19Val, NP_001380266.1:p.Ile19Leu, NP_001380266.1:p.Ile19Val, NP_001380264.1:p.Ile19Leu, NP_001380264.1:p.Ile19Val, NP_001380265.1:p.Ile19Leu, NP_001380265.1:p.Ile19Val, NP_001380268.1:p.Ile19Leu, NP_001380268.1:p.Ile19Val, NP_001380269.1:p.Ile19Leu, NP_001380269.1:p.Ile19Val

                              15.

                              rs1446647323 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:24306070 (GRCh38)
                                14:24775276 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:24306069:G:A
                                Gene:
                                CIDEB (Varview), NOP9 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.24306070G>A, NW_018654722.1:g.607048G>A, NC_000014.8:g.24775276G>A, NM_014430.4:c.404C>T, NM_014430.3:c.404C>T, NM_014430.2:c.404C>T, NM_174913.3:c.*975G>A, NM_174913.2:c.*975G>A, XM_011536526.3:c.*975G>A, XM_011536526.2:c.*975G>A, XM_011536526.1:c.*975G>A, NM_001318807.3:c.404C>T, NM_001318807.2:c.404C>T, NM_001318807.1:c.404C>T, XM_005267385.2:c.*975G>A, XM_005267385.1:c.*975G>A, NM_001286367.2:c.*1112G>A, NM_001286367.1:c.*1112G>A, XM_047431054.1:c.*975G>A, XM_047431053.1:c.*975G>A, NM_001393334.1:c.404C>T, NM_001393337.1:c.404C>T, NM_001393335.1:c.404C>T, NM_001393336.1:c.404C>T, NM_001393339.1:c.404C>T, NM_001393338.1:c.404C>T, NM_001393340.1:c.254C>T, XM_047431052.1:c.*975G>A, XM_047431055.1:c.*975G>A, NP_055245.2:p.Thr135Ile, NP_001305736.1:p.Thr135Ile, NP_001380263.1:p.Thr135Ile, NP_001380266.1:p.Thr135Ile, NP_001380264.1:p.Thr135Ile, NP_001380265.1:p.Thr135Ile, NP_001380268.1:p.Thr135Ile, NP_001380267.1:p.Thr135Ile, NP_001380269.1:p.Thr85Ile

                                16.

                                rs1445850573 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  14:24305979 (GRCh38)
                                  14:24775185 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:24305978:G:C
                                  Gene:
                                  CIDEB (Varview), NOP9 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.24305979G>C, NW_018654722.1:g.606957G>C, NC_000014.8:g.24775185G>C, NM_014430.4:c.495C>G, NM_014430.3:c.495C>G, NM_014430.2:c.495C>G, NM_174913.3:c.*884G>C, NM_174913.2:c.*884G>C, XM_011536526.3:c.*884G>C, XM_011536526.2:c.*884G>C, XM_011536526.1:c.*884G>C, NM_001318807.3:c.495C>G, NM_001318807.2:c.495C>G, NM_001318807.1:c.495C>G, XM_005267385.2:c.*884G>C, XM_005267385.1:c.*884G>C, NM_001286367.2:c.*1021G>C, NM_001286367.1:c.*1021G>C, XM_047431054.1:c.*884G>C, XM_047431053.1:c.*884G>C, NM_001393334.1:c.495C>G, NM_001393337.1:c.495C>G, NM_001393335.1:c.495C>G, NM_001393336.1:c.495C>G, NM_001393339.1:c.495C>G, NM_001393338.1:c.495C>G, NM_001393340.1:c.345C>G, XM_047431052.1:c.*884G>C, XM_047431055.1:c.*884G>C, NP_055245.2:p.Asp165Glu, NP_001305736.1:p.Asp165Glu, NP_001380263.1:p.Asp165Glu, NP_001380266.1:p.Asp165Glu, NP_001380264.1:p.Asp165Glu, NP_001380265.1:p.Asp165Glu, NP_001380268.1:p.Asp165Glu, NP_001380267.1:p.Asp165Glu, NP_001380269.1:p.Asp115Glu

                                  17.

                                  rs1445026369 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:24306442 (GRCh38)
                                    14:24775648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:24306441:A:G
                                    Gene:
                                    CIDEB (Varview), NOP9 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.24306442A>G, NW_018654722.1:g.607420A>G, NC_000014.8:g.24775648A>G, NM_014430.4:c.268T>C, NM_014430.3:c.268T>C, NM_014430.2:c.268T>C, NM_174913.3:c.*1347A>G, NM_174913.2:c.*1347A>G, XM_011536526.3:c.*1347A>G, XM_011536526.2:c.*1347A>G, XM_011536526.1:c.*1347A>G, NM_001318807.3:c.268T>C, NM_001318807.2:c.268T>C, NM_001318807.1:c.268T>C, XM_005267385.2:c.*1347A>G, XM_005267385.1:c.*1347A>G, NM_001286367.2:c.*1484A>G, NM_001286367.1:c.*1484A>G, XM_047431054.1:c.*1347A>G, XM_047431053.1:c.*1347A>G, XM_047431055.1:c.*1347A>G, NM_001393334.1:c.268T>C, NM_001393338.1:c.268T>C, NM_001393337.1:c.268T>C, NM_001393335.1:c.268T>C, NM_001393336.1:c.268T>C, NM_001393339.1:c.268T>C, XM_047431052.1:c.*1347A>G, NP_055245.2:p.Phe90Leu, NP_001305736.1:p.Phe90Leu, NP_001380263.1:p.Phe90Leu, NP_001380267.1:p.Phe90Leu, NP_001380266.1:p.Phe90Leu, NP_001380264.1:p.Phe90Leu, NP_001380265.1:p.Phe90Leu, NP_001380268.1:p.Phe90Leu

                                    18.

                                    rs1442180480 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:24307843 (GRCh38)
                                      14:24777049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:24307842:C:T
                                      Gene:
                                      CIDEB (Varview), NOP9 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                      HGVS:
                                      NC_000014.9:g.24307843C>T, NW_018654722.1:g.608821C>T, NC_000014.8:g.24777049C>T, NM_014430.4:c.16G>A, NM_014430.3:c.16G>A, NM_014430.2:c.16G>A, NM_174913.3:c.*2748C>T, NM_174913.2:c.*2748C>T, XM_011536526.3:c.*2748C>T, XM_011536526.2:c.*2748C>T, XM_011536526.1:c.*2748C>T, NM_001318807.3:c.16G>A, NM_001318807.2:c.16G>A, NM_001318807.1:c.16G>A, XM_005267385.2:c.*2748C>T, XM_005267385.1:c.*2748C>T, NM_001286367.2:c.*2885C>T, NM_001286367.1:c.*2885C>T, XM_047431054.1:c.*2748C>T, XM_047431053.1:c.*2748C>T, NM_001393334.1:c.16G>A, NM_001393337.1:c.16G>A, NM_001393335.1:c.16G>A, NM_001393336.1:c.16G>A, NM_001393339.1:c.16G>A, NM_001393338.1:c.16G>A, NM_001393340.1:c.16G>A, XM_047431052.1:c.*2748C>T, XM_047431055.1:c.*2748C>T, NP_055245.2:p.Ala6Thr, NP_001305736.1:p.Ala6Thr, NP_001380263.1:p.Ala6Thr, NP_001380266.1:p.Ala6Thr, NP_001380264.1:p.Ala6Thr, NP_001380265.1:p.Ala6Thr, NP_001380268.1:p.Ala6Thr, NP_001380267.1:p.Ala6Thr, NP_001380269.1:p.Ala6Thr

                                      19.

                                      rs1420508291 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        14:24305729 (GRCh38)
                                        14:24774935 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:24305728:G:C
                                        Gene:
                                        CIDEB (Varview), NOP9 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1416259890 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          14:24307485 (GRCh38)
                                          14:24776691 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:24307484:T:A
                                          Gene:
                                          CIDEB (Varview), NOP9 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000034/9 (TOPMED)
                                          HGVS:

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