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Items: 1 to 20 of 1000

1.

rs1490344052 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:80785162 (GRCh38)
    14:81251506 (GRCh37)
    Canonical SPDI:
    NC_000014.9:80785161:A:G
    Gene:
    CEP128 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.00005/1 (ALFA)
    HGVS:

    2.

    rs1490261009 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      14:80916418 (GRCh38)
      14:81382762 (GRCh37)
      Canonical SPDI:
      NC_000014.9:80916417:T:C
      Gene:
      CEP128 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000043/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000014.9:g.80916418T>C, NC_000014.8:g.81382762T>C, NM_152446.5:c.130A>G, NM_152446.4:c.130A>G, NM_152446.3:c.130A>G, XM_011536495.3:c.130A>G, XM_011536495.2:c.130A>G, XM_011536495.1:c.130A>G, XM_011536491.3:c.130A>G, XM_011536491.2:c.130A>G, XM_011536491.1:c.130A>G, XM_011536493.3:c.130A>G, XM_011536493.2:c.130A>G, XM_011536493.1:c.130A>G, XM_011536492.3:c.130A>G, XM_011536492.2:c.130A>G, XM_011536492.1:c.130A>G, NR_157142.2:n.459A>G, NR_157142.1:n.459A>G, XM_047431023.1:c.130A>G, XM_047431018.1:c.130A>G, XM_047431019.1:c.130A>G, XM_047431021.1:c.130A>G, XM_047431020.1:c.130A>G, XM_047431022.1:c.130A>G, XM_047431025.1:c.130A>G, XM_047431026.1:c.130A>G, NM_177527.1:c.-51A>G, NP_689659.2:p.Ile44Val, XP_011534797.1:p.Ile44Val, XP_011534793.1:p.Ile44Val, XP_011534795.1:p.Ile44Val, XP_011534794.1:p.Ile44Val, XP_047286979.1:p.Ile44Val, XP_047286974.1:p.Ile44Val, XP_047286975.1:p.Ile44Val, XP_047286977.1:p.Ile44Val, XP_047286976.1:p.Ile44Val, XP_047286978.1:p.Ile44Val, XP_047286981.1:p.Ile44Val, XP_047286982.1:p.Ile44Val

      3.

      rs1486625135 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        14:80785117 (GRCh38)
        14:81251461 (GRCh37)
        Canonical SPDI:
        NC_000014.9:80785116:C:T
        Gene:
        CEP128 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1486553293 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:80793053 (GRCh38)
          14:81259397 (GRCh37)
          Canonical SPDI:
          NC_000014.9:80793052:G:A
          Gene:
          CEP128 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.80793053G>A, NC_000014.8:g.81259397G>A, NM_152446.5:c.1267C>T, NM_152446.4:c.1267C>T, NM_152446.3:c.1267C>T, XM_011536495.3:c.1267C>T, XM_011536495.2:c.1267C>T, XM_011536495.1:c.1267C>T, XM_011536491.3:c.1267C>T, XM_011536491.2:c.1267C>T, XM_011536491.1:c.1267C>T, XM_011536493.3:c.1267C>T, XM_011536493.2:c.1267C>T, XM_011536493.1:c.1267C>T, XM_011536492.3:c.1267C>T, XM_011536492.2:c.1267C>T, XM_011536492.1:c.1267C>T, NR_157142.2:n.1596C>T, NR_157142.1:n.1596C>T, XM_017021043.2:c.61C>T, XM_017021043.1:c.61C>T, XM_047431023.1:c.1267C>T, XM_047431018.1:c.1267C>T, XM_047431019.1:c.1267C>T, XM_047431021.1:c.1267C>T, XM_047431020.1:c.1267C>T, XM_047431022.1:c.1267C>T, XM_047431027.1:c.841C>T, XM_047431025.1:c.1267C>T, XM_047431026.1:c.1267C>T, NP_689659.2:p.Leu423Phe, XP_011534797.1:p.Leu423Phe, XP_011534793.1:p.Leu423Phe, XP_011534795.1:p.Leu423Phe, XP_011534794.1:p.Leu423Phe, XP_016876532.1:p.Leu21Phe, XP_047286979.1:p.Leu423Phe, XP_047286974.1:p.Leu423Phe, XP_047286975.1:p.Leu423Phe, XP_047286977.1:p.Leu423Phe, XP_047286976.1:p.Leu423Phe, XP_047286978.1:p.Leu423Phe, XP_047286983.1:p.Leu281Phe, XP_047286981.1:p.Leu423Phe, XP_047286982.1:p.Leu423Phe

          5.

          rs1485445907 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            14:80916478 (GRCh38)
            14:81382822 (GRCh37)
            Canonical SPDI:
            NC_000014.9:80916477:A:G
            Gene:
            CEP128 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_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_000014.9:g.80916478A>G, NC_000014.8:g.81382822A>G, NM_152446.5:c.70T>C, NM_152446.4:c.70T>C, NM_152446.3:c.70T>C, XM_011536495.3:c.70T>C, XM_011536495.2:c.70T>C, XM_011536495.1:c.70T>C, XM_011536491.3:c.70T>C, XM_011536491.2:c.70T>C, XM_011536491.1:c.70T>C, XM_011536493.3:c.70T>C, XM_011536493.2:c.70T>C, XM_011536493.1:c.70T>C, XM_011536492.3:c.70T>C, XM_011536492.2:c.70T>C, XM_011536492.1:c.70T>C, NR_157142.2:n.399T>C, NR_157142.1:n.399T>C, XM_047431023.1:c.70T>C, XM_047431018.1:c.70T>C, XM_047431019.1:c.70T>C, XM_047431021.1:c.70T>C, XM_047431020.1:c.70T>C, XM_047431022.1:c.70T>C, XM_047431025.1:c.70T>C, XM_047431026.1:c.70T>C, NM_177527.1:c.-111T>C, NP_689659.2:p.Ser24Pro, XP_011534797.1:p.Ser24Pro, XP_011534793.1:p.Ser24Pro, XP_011534795.1:p.Ser24Pro, XP_011534794.1:p.Ser24Pro, XP_047286979.1:p.Ser24Pro, XP_047286974.1:p.Ser24Pro, XP_047286975.1:p.Ser24Pro, XP_047286977.1:p.Ser24Pro, XP_047286976.1:p.Ser24Pro, XP_047286978.1:p.Ser24Pro, XP_047286981.1:p.Ser24Pro, XP_047286982.1:p.Ser24Pro

            6.

            rs1484127444 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:80840755 (GRCh38)
              14:81307099 (GRCh37)
              Canonical SPDI:
              NC_000014.9:80840754:T:C
              Gene:
              CEP128 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000014.9:g.80840755T>C, NC_000014.8:g.81307099T>C, NM_152446.5:c.776A>G, NM_152446.4:c.776A>G, NM_152446.3:c.776A>G, XM_011536495.3:c.776A>G, XM_011536495.2:c.776A>G, XM_011536495.1:c.776A>G, XM_011536491.3:c.776A>G, XM_011536491.2:c.776A>G, XM_011536491.1:c.776A>G, XM_011536493.3:c.776A>G, XM_011536493.2:c.776A>G, XM_011536493.1:c.776A>G, XM_011536492.3:c.776A>G, XM_011536492.2:c.776A>G, XM_011536492.1:c.776A>G, NR_157142.2:n.1105A>G, NR_157142.1:n.1105A>G, XM_047431023.1:c.776A>G, XM_047431018.1:c.776A>G, XM_047431019.1:c.776A>G, XM_047431021.1:c.776A>G, XM_047431020.1:c.776A>G, XM_047431022.1:c.776A>G, XM_047431027.1:c.350A>G, XM_047431025.1:c.776A>G, XM_047431026.1:c.776A>G, NM_177527.1:c.596A>G, NP_689659.2:p.Gln259Arg, XP_011534797.1:p.Gln259Arg, XP_011534793.1:p.Gln259Arg, XP_011534795.1:p.Gln259Arg, XP_011534794.1:p.Gln259Arg, XP_047286979.1:p.Gln259Arg, XP_047286974.1:p.Gln259Arg, XP_047286975.1:p.Gln259Arg, XP_047286977.1:p.Gln259Arg, XP_047286976.1:p.Gln259Arg, XP_047286978.1:p.Gln259Arg, XP_047286983.1:p.Gln117Arg, XP_047286981.1:p.Gln259Arg, XP_047286982.1:p.Gln259Arg

              7.

              rs1483363740 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                14:80831180 (GRCh38)
                14:81297524 (GRCh37)
                Canonical SPDI:
                NC_000014.9:80831179:T:C
                Gene:
                CEP128 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000014.9:g.80831180T>C, NC_000014.8:g.81297524T>C, NM_152446.5:c.1172A>G, NM_152446.4:c.1172A>G, NM_152446.3:c.1172A>G, XM_011536495.3:c.1172A>G, XM_011536495.2:c.1172A>G, XM_011536495.1:c.1172A>G, XM_011536491.3:c.1172A>G, XM_011536491.2:c.1172A>G, XM_011536491.1:c.1172A>G, XM_011536493.3:c.1172A>G, XM_011536493.2:c.1172A>G, XM_011536493.1:c.1172A>G, XM_011536492.3:c.1172A>G, XM_011536492.2:c.1172A>G, XM_011536492.1:c.1172A>G, NR_157142.2:n.1501A>G, NR_157142.1:n.1501A>G, XM_047431023.1:c.1172A>G, XM_047431018.1:c.1172A>G, XM_047431019.1:c.1172A>G, XM_047431021.1:c.1172A>G, XM_047431020.1:c.1172A>G, XM_047431022.1:c.1172A>G, XM_047431027.1:c.746A>G, XM_047431025.1:c.1172A>G, XM_047431026.1:c.1172A>G, NM_177527.1:c.992A>G, NP_689659.2:p.Lys391Arg, XP_011534797.1:p.Lys391Arg, XP_011534793.1:p.Lys391Arg, XP_011534795.1:p.Lys391Arg, XP_011534794.1:p.Lys391Arg, XP_047286979.1:p.Lys391Arg, XP_047286974.1:p.Lys391Arg, XP_047286975.1:p.Lys391Arg, XP_047286977.1:p.Lys391Arg, XP_047286976.1:p.Lys391Arg, XP_047286978.1:p.Lys391Arg, XP_047286983.1:p.Lys249Arg, XP_047286981.1:p.Lys391Arg, XP_047286982.1:p.Lys391Arg

                8.

                rs1481454262 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  14:80916414 (GRCh38)
                  14:81382758 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:80916413:G:T
                  Gene:
                  CEP128 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.80916414G>T, NC_000014.8:g.81382758G>T, NM_152446.5:c.134C>A, NM_152446.4:c.134C>A, NM_152446.3:c.134C>A, XM_011536495.3:c.134C>A, XM_011536495.2:c.134C>A, XM_011536495.1:c.134C>A, XM_011536491.3:c.134C>A, XM_011536491.2:c.134C>A, XM_011536491.1:c.134C>A, XM_011536493.3:c.134C>A, XM_011536493.2:c.134C>A, XM_011536493.1:c.134C>A, XM_011536492.3:c.134C>A, XM_011536492.2:c.134C>A, XM_011536492.1:c.134C>A, NR_157142.2:n.463C>A, NR_157142.1:n.463C>A, XM_047431023.1:c.134C>A, XM_047431018.1:c.134C>A, XM_047431019.1:c.134C>A, XM_047431021.1:c.134C>A, XM_047431020.1:c.134C>A, XM_047431022.1:c.134C>A, XM_047431025.1:c.134C>A, XM_047431026.1:c.134C>A, NM_177527.1:c.-47C>A, NP_689659.2:p.Thr45Lys, XP_011534797.1:p.Thr45Lys, XP_011534793.1:p.Thr45Lys, XP_011534795.1:p.Thr45Lys, XP_011534794.1:p.Thr45Lys, XP_047286979.1:p.Thr45Lys, XP_047286974.1:p.Thr45Lys, XP_047286975.1:p.Thr45Lys, XP_047286977.1:p.Thr45Lys, XP_047286976.1:p.Thr45Lys, XP_047286978.1:p.Thr45Lys, XP_047286981.1:p.Thr45Lys, XP_047286982.1:p.Thr45Lys

                  9.

                  rs1479650190 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:80530861 (GRCh38)
                    14:80997205 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:80530860:A:G
                    Gene:
                    CEP128 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000014.9:g.80530861A>G, NC_000014.8:g.80997205A>G, NM_152446.5:c.2906T>C, NM_152446.4:c.2906T>C, NM_152446.3:c.2906T>C, XM_011536491.3:c.2996T>C, XM_011536491.2:c.2996T>C, XM_011536491.1:c.2996T>C, XM_011536493.3:c.2996T>C, XM_011536493.2:c.2996T>C, XM_011536493.1:c.2996T>C, XM_011536492.3:c.2996T>C, XM_011536492.2:c.2996T>C, XM_011536492.1:c.2996T>C, NR_157142.2:n.3699T>C, NR_157142.1:n.3699T>C, XM_017021043.2:c.1790T>C, XM_017021043.1:c.1790T>C, XM_047431023.1:c.2906T>C, XM_047431018.1:c.2906T>C, XM_047431019.1:c.2906T>C, XM_047431021.1:c.2906T>C, XM_047431020.1:c.2906T>C, XM_047431022.1:c.2906T>C, XM_047431027.1:c.2570T>C, XM_047431025.1:c.3150T>C, XM_047431026.1:c.3060T>C, NP_689659.2:p.Leu969Pro, XP_011534793.1:p.Leu999Pro, XP_011534795.1:p.Leu999Pro, XP_011534794.1:p.Leu999Pro, XP_016876532.1:p.Leu597Pro, XP_047286979.1:p.Leu969Pro, XP_047286974.1:p.Leu969Pro, XP_047286975.1:p.Leu969Pro, XP_047286977.1:p.Leu969Pro, XP_047286976.1:p.Leu969Pro, XP_047286978.1:p.Leu969Pro, XP_047286983.1:p.Leu857Pro

                    10.

                    rs1478932757 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      14:80862849 (GRCh38)
                      14:81329193 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:80862848:G:A,NC_000014.9:80862848:G:C
                      Gene:
                      CEP128 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      C=0.000602/17 (TOMMO)
                      C=0.002729/5 (Korea1K)
                      HGVS:
                      NC_000014.9:g.80862849G>A, NC_000014.9:g.80862849G>C, NC_000014.8:g.81329193G>A, NC_000014.8:g.81329193G>C, NM_152446.5:c.670C>T, NM_152446.5:c.670C>G, NM_152446.4:c.670C>T, NM_152446.4:c.670C>G, NM_152446.3:c.670C>T, NM_152446.3:c.670C>G, XM_011536495.3:c.670C>T, XM_011536495.3:c.670C>G, XM_011536495.2:c.670C>T, XM_011536495.2:c.670C>G, XM_011536495.1:c.670C>T, XM_011536495.1:c.670C>G, XM_011536491.3:c.670C>T, XM_011536491.3:c.670C>G, XM_011536491.2:c.670C>T, XM_011536491.2:c.670C>G, XM_011536491.1:c.670C>T, XM_011536491.1:c.670C>G, XM_011536493.3:c.670C>T, XM_011536493.3:c.670C>G, XM_011536493.2:c.670C>T, XM_011536493.2:c.670C>G, XM_011536493.1:c.670C>T, XM_011536493.1:c.670C>G, XM_011536492.3:c.670C>T, XM_011536492.3:c.670C>G, XM_011536492.2:c.670C>T, XM_011536492.2:c.670C>G, XM_011536492.1:c.670C>T, XM_011536492.1:c.670C>G, NR_157142.2:n.999C>T, NR_157142.2:n.999C>G, NR_157142.1:n.999C>T, NR_157142.1:n.999C>G, XM_047431023.1:c.670C>T, XM_047431023.1:c.670C>G, XM_047431018.1:c.670C>T, XM_047431018.1:c.670C>G, XM_047431019.1:c.670C>T, XM_047431019.1:c.670C>G, XM_047431021.1:c.670C>T, XM_047431021.1:c.670C>G, XM_047431020.1:c.670C>T, XM_047431020.1:c.670C>G, XM_047431022.1:c.670C>T, XM_047431022.1:c.670C>G, XM_047431027.1:c.244C>T, XM_047431027.1:c.244C>G, XM_047431025.1:c.670C>T, XM_047431025.1:c.670C>G, XM_047431026.1:c.670C>T, XM_047431026.1:c.670C>G, NM_177527.1:c.490C>T, NM_177527.1:c.490C>G, NP_689659.2:p.Leu224Phe, NP_689659.2:p.Leu224Val, XP_011534797.1:p.Leu224Phe, XP_011534797.1:p.Leu224Val, XP_011534793.1:p.Leu224Phe, XP_011534793.1:p.Leu224Val, XP_011534795.1:p.Leu224Phe, XP_011534795.1:p.Leu224Val, XP_011534794.1:p.Leu224Phe, XP_011534794.1:p.Leu224Val, XP_047286979.1:p.Leu224Phe, XP_047286979.1:p.Leu224Val, XP_047286974.1:p.Leu224Phe, XP_047286974.1:p.Leu224Val, XP_047286975.1:p.Leu224Phe, XP_047286975.1:p.Leu224Val, XP_047286977.1:p.Leu224Phe, XP_047286977.1:p.Leu224Val, XP_047286976.1:p.Leu224Phe, XP_047286976.1:p.Leu224Val, XP_047286978.1:p.Leu224Phe, XP_047286978.1:p.Leu224Val, XP_047286983.1:p.Leu82Phe, XP_047286983.1:p.Leu82Val, XP_047286981.1:p.Leu224Phe, XP_047286981.1:p.Leu224Val, XP_047286982.1:p.Leu224Phe, XP_047286982.1:p.Leu224Val

                      11.

                      rs1476633409 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:80838224 (GRCh38)
                        14:81304568 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:80838223:G:A
                        Gene:
                        CEP128 (Varview)
                        Functional Consequence:
                        stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.80838224G>A, NC_000014.8:g.81304568G>A, NM_152446.5:c.904C>T, NM_152446.4:c.904C>T, NM_152446.3:c.904C>T, XM_011536495.3:c.904C>T, XM_011536495.2:c.904C>T, XM_011536495.1:c.904C>T, XM_011536491.3:c.904C>T, XM_011536491.2:c.904C>T, XM_011536491.1:c.904C>T, XM_011536493.3:c.904C>T, XM_011536493.2:c.904C>T, XM_011536493.1:c.904C>T, XM_011536492.3:c.904C>T, XM_011536492.2:c.904C>T, XM_011536492.1:c.904C>T, NR_157142.2:n.1233C>T, NR_157142.1:n.1233C>T, XM_047431023.1:c.904C>T, XM_047431018.1:c.904C>T, XM_047431019.1:c.904C>T, XM_047431021.1:c.904C>T, XM_047431020.1:c.904C>T, XM_047431022.1:c.904C>T, XM_047431027.1:c.478C>T, XM_047431025.1:c.904C>T, XM_047431026.1:c.904C>T, NM_177527.1:c.724C>T, NP_689659.2:p.Arg302Ter, XP_011534797.1:p.Arg302Ter, XP_011534793.1:p.Arg302Ter, XP_011534795.1:p.Arg302Ter, XP_011534794.1:p.Arg302Ter, XP_047286979.1:p.Arg302Ter, XP_047286974.1:p.Arg302Ter, XP_047286975.1:p.Arg302Ter, XP_047286977.1:p.Arg302Ter, XP_047286976.1:p.Arg302Ter, XP_047286978.1:p.Arg302Ter, XP_047286983.1:p.Arg160Ter, XP_047286981.1:p.Arg302Ter, XP_047286982.1:p.Arg302Ter

                        12.

                        rs1476447848 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:80785232 (GRCh38)
                          14:81251576 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:80785231:T:C
                          Gene:
                          CEP128 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000014.9:g.80785232T>C, NC_000014.8:g.81251576T>C, NM_152446.5:c.1874A>G, NM_152446.4:c.1874A>G, NM_152446.3:c.1874A>G, XM_011536495.3:c.1874A>G, XM_011536495.2:c.1874A>G, XM_011536495.1:c.1874A>G, XM_011536491.3:c.1874A>G, XM_011536491.2:c.1874A>G, XM_011536491.1:c.1874A>G, XM_011536493.3:c.1874A>G, XM_011536493.2:c.1874A>G, XM_011536493.1:c.1874A>G, XM_011536492.3:c.1874A>G, XM_011536492.2:c.1874A>G, XM_011536492.1:c.1874A>G, NR_157142.2:n.2203A>G, NR_157142.1:n.2203A>G, XM_017021043.2:c.668A>G, XM_017021043.1:c.668A>G, XM_047431023.1:c.1874A>G, XM_047431018.1:c.1874A>G, XM_047431019.1:c.1874A>G, XM_047431021.1:c.1874A>G, XM_047431020.1:c.1874A>G, XM_047431022.1:c.1874A>G, XM_047431027.1:c.1448A>G, XM_047431025.1:c.1874A>G, XM_047431026.1:c.1874A>G, NP_689659.2:p.Gln625Arg, XP_011534797.1:p.Gln625Arg, XP_011534793.1:p.Gln625Arg, XP_011534795.1:p.Gln625Arg, XP_011534794.1:p.Gln625Arg, XP_016876532.1:p.Gln223Arg, XP_047286979.1:p.Gln625Arg, XP_047286974.1:p.Gln625Arg, XP_047286975.1:p.Gln625Arg, XP_047286977.1:p.Gln625Arg, XP_047286976.1:p.Gln625Arg, XP_047286978.1:p.Gln625Arg, XP_047286983.1:p.Gln483Arg, XP_047286981.1:p.Gln625Arg, XP_047286982.1:p.Gln625Arg

                          13.

                          rs1476299275 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            14:80497526 (GRCh38)
                            14:80963869 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:80497525:T:G
                            Gene:
                            CEP128 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_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_000014.9:g.80497526T>G, NC_000014.8:g.80963869T>G, NM_152446.5:c.3238A>C, NM_152446.4:c.3238A>C, NM_152446.3:c.3238A>C, XM_011536491.3:c.3328A>C, XM_011536491.2:c.3328A>C, XM_011536491.1:c.3328A>C, XM_011536492.3:c.3328A>C, XM_011536492.2:c.3328A>C, XM_011536492.1:c.3328A>C, NR_157142.2:n.4031A>C, NR_157142.1:n.4031A>C, XM_017021043.2:c.2122A>C, XM_017021043.1:c.2122A>C, XM_047431018.1:c.3238A>C, XM_047431019.1:c.3238A>C, XM_047431021.1:c.3238A>C, XM_047431020.1:c.3238A>C, XM_047431022.1:c.3238A>C, XM_047431027.1:c.2902A>C, NP_689659.2:p.Met1080Leu, XP_011534793.1:p.Met1110Leu, XP_011534794.1:p.Met1110Leu, XP_016876532.1:p.Met708Leu, XP_047286974.1:p.Met1080Leu, XP_047286975.1:p.Met1080Leu, XP_047286977.1:p.Met1080Leu, XP_047286976.1:p.Met1080Leu, XP_047286978.1:p.Met1080Leu, XP_047286983.1:p.Met968Leu

                            14.

                            rs1475835918 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:80778026 (GRCh38)
                              14:81244370 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:80778025:C:T
                              Gene:
                              CEP128 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1473810237 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                14:80761531 (GRCh38)
                                14:81227875 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:80761530:A:C
                                Gene:
                                CEP128 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_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.80761531A>C, NC_000014.8:g.81227875A>C, NM_152446.5:c.2459T>G, NM_152446.4:c.2459T>G, NM_152446.3:c.2459T>G, XM_011536495.3:c.2459T>G, XM_011536495.2:c.2459T>G, XM_011536495.1:c.2459T>G, XM_011536491.3:c.2459T>G, XM_011536491.2:c.2459T>G, XM_011536491.1:c.2459T>G, XM_011536493.3:c.2459T>G, XM_011536493.2:c.2459T>G, XM_011536493.1:c.2459T>G, XM_011536492.3:c.2459T>G, XM_011536492.2:c.2459T>G, XM_011536492.1:c.2459T>G, NR_157142.2:n.3252T>G, NR_157142.1:n.3252T>G, XM_017021043.2:c.1253T>G, XM_017021043.1:c.1253T>G, XM_047431023.1:c.2459T>G, XM_047431018.1:c.2459T>G, XM_047431019.1:c.2459T>G, XM_047431021.1:c.2459T>G, XM_047431020.1:c.2459T>G, XM_047431022.1:c.2459T>G, XM_047431027.1:c.2033T>G, XM_047431025.1:c.2459T>G, XM_047431026.1:c.2459T>G, NP_689659.2:p.Leu820Trp, XP_011534797.1:p.Leu820Trp, XP_011534793.1:p.Leu820Trp, XP_011534795.1:p.Leu820Trp, XP_011534794.1:p.Leu820Trp, XP_016876532.1:p.Leu418Trp, XP_047286979.1:p.Leu820Trp, XP_047286974.1:p.Leu820Trp, XP_047286975.1:p.Leu820Trp, XP_047286977.1:p.Leu820Trp, XP_047286976.1:p.Leu820Trp, XP_047286978.1:p.Leu820Trp, XP_047286983.1:p.Leu678Trp, XP_047286981.1:p.Leu820Trp, XP_047286982.1:p.Leu820Trp

                                16.

                                rs1473697908 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:80761459 (GRCh38)
                                  14:81227803 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:80761458:T:C
                                  Gene:
                                  CEP128 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000047/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.80761459T>C, NC_000014.8:g.81227803T>C, NM_152446.5:c.2531A>G, NM_152446.4:c.2531A>G, NM_152446.3:c.2531A>G, XM_011536495.3:c.2531A>G, XM_011536495.2:c.2531A>G, XM_011536495.1:c.2531A>G, XM_011536491.3:c.2531A>G, XM_011536491.2:c.2531A>G, XM_011536491.1:c.2531A>G, XM_011536493.3:c.2531A>G, XM_011536493.2:c.2531A>G, XM_011536493.1:c.2531A>G, XM_011536492.3:c.2531A>G, XM_011536492.2:c.2531A>G, XM_011536492.1:c.2531A>G, NR_157142.2:n.3324A>G, NR_157142.1:n.3324A>G, XM_017021043.2:c.1325A>G, XM_017021043.1:c.1325A>G, XM_047431023.1:c.2531A>G, XM_047431018.1:c.2531A>G, XM_047431019.1:c.2531A>G, XM_047431021.1:c.2531A>G, XM_047431020.1:c.2531A>G, XM_047431022.1:c.2531A>G, XM_047431027.1:c.2105A>G, XM_047431025.1:c.2531A>G, XM_047431026.1:c.2531A>G, NP_689659.2:p.Lys844Arg, XP_011534797.1:p.Lys844Arg, XP_011534793.1:p.Lys844Arg, XP_011534795.1:p.Lys844Arg, XP_011534794.1:p.Lys844Arg, XP_016876532.1:p.Lys442Arg, XP_047286979.1:p.Lys844Arg, XP_047286974.1:p.Lys844Arg, XP_047286975.1:p.Lys844Arg, XP_047286977.1:p.Lys844Arg, XP_047286976.1:p.Lys844Arg, XP_047286978.1:p.Lys844Arg, XP_047286983.1:p.Lys702Arg, XP_047286981.1:p.Lys844Arg, XP_047286982.1:p.Lys844Arg

                                  17.

                                  rs1473526734 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:80559292 (GRCh38)
                                    14:81025636 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:80559291:A:G
                                    Gene:
                                    CEP128 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.80559292A>G, NC_000014.8:g.81025636A>G, NM_152446.5:c.2867T>C, NM_152446.4:c.2867T>C, NM_152446.3:c.2867T>C, XM_011536491.3:c.2957T>C, XM_011536491.2:c.2957T>C, XM_011536491.1:c.2957T>C, XM_011536493.3:c.2957T>C, XM_011536493.2:c.2957T>C, XM_011536493.1:c.2957T>C, XM_011536492.3:c.2957T>C, XM_011536492.2:c.2957T>C, XM_011536492.1:c.2957T>C, NR_157142.2:n.3660T>C, NR_157142.1:n.3660T>C, XM_017021043.2:c.1751T>C, XM_017021043.1:c.1751T>C, XM_047431023.1:c.2867T>C, XM_047431018.1:c.2867T>C, XM_047431019.1:c.2867T>C, XM_047431021.1:c.2867T>C, XM_047431020.1:c.2867T>C, XM_047431022.1:c.2867T>C, XM_047431027.1:c.2531T>C, XM_047431025.1:c.2957T>C, XM_047431026.1:c.2867T>C, NP_689659.2:p.Ile956Thr, XP_011534793.1:p.Ile986Thr, XP_011534795.1:p.Ile986Thr, XP_011534794.1:p.Ile986Thr, XP_016876532.1:p.Ile584Thr, XP_047286979.1:p.Ile956Thr, XP_047286974.1:p.Ile956Thr, XP_047286975.1:p.Ile956Thr, XP_047286977.1:p.Ile956Thr, XP_047286976.1:p.Ile956Thr, XP_047286978.1:p.Ile956Thr, XP_047286983.1:p.Ile844Thr, XP_047286981.1:p.Ile986Thr, XP_047286982.1:p.Ile956Thr

                                    18.

                                    rs1472372770 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:80905993 (GRCh38)
                                      14:81372337 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:80905992:C:T
                                      Gene:
                                      CEP128 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000014.9:g.80905993C>T, NC_000014.8:g.81372337C>T, NM_152446.5:c.323G>A, NM_152446.4:c.323G>A, NM_152446.3:c.323G>A, XM_011536495.3:c.323G>A, XM_011536495.2:c.323G>A, XM_011536495.1:c.323G>A, XM_011536491.3:c.323G>A, XM_011536491.2:c.323G>A, XM_011536491.1:c.323G>A, XM_011536493.3:c.323G>A, XM_011536493.2:c.323G>A, XM_011536493.1:c.323G>A, XM_011536492.3:c.323G>A, XM_011536492.2:c.323G>A, XM_011536492.1:c.323G>A, NR_157142.2:n.652G>A, NR_157142.1:n.652G>A, XM_047431023.1:c.323G>A, XM_047431018.1:c.323G>A, XM_047431019.1:c.323G>A, XM_047431021.1:c.323G>A, XM_047431020.1:c.323G>A, XM_047431022.1:c.323G>A, XM_047431027.1:c.-104G>A, XM_047431025.1:c.323G>A, XM_047431026.1:c.323G>A, NM_177527.1:c.143G>A, NP_689659.2:p.Ser108Asn, XP_011534797.1:p.Ser108Asn, XP_011534793.1:p.Ser108Asn, XP_011534795.1:p.Ser108Asn, XP_011534794.1:p.Ser108Asn, XP_047286979.1:p.Ser108Asn, XP_047286974.1:p.Ser108Asn, XP_047286975.1:p.Ser108Asn, XP_047286977.1:p.Ser108Asn, XP_047286976.1:p.Ser108Asn, XP_047286978.1:p.Ser108Asn, XP_047286981.1:p.Ser108Asn, XP_047286982.1:p.Ser108Asn

                                      19.

                                      rs1472353882 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        14:80785148 (GRCh38)
                                        14:81251492 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:80785147:T:A
                                        Gene:
                                        CEP128 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.80785148T>A, NC_000014.8:g.81251492T>A, NM_152446.5:c.1958A>T, NM_152446.4:c.1958A>T, NM_152446.3:c.1958A>T, XM_011536495.3:c.1958A>T, XM_011536495.2:c.1958A>T, XM_011536495.1:c.1958A>T, XM_011536491.3:c.1958A>T, XM_011536491.2:c.1958A>T, XM_011536491.1:c.1958A>T, XM_011536493.3:c.1958A>T, XM_011536493.2:c.1958A>T, XM_011536493.1:c.1958A>T, XM_011536492.3:c.1958A>T, XM_011536492.2:c.1958A>T, XM_011536492.1:c.1958A>T, NR_157142.2:n.2287A>T, NR_157142.1:n.2287A>T, XM_017021043.2:c.752A>T, XM_017021043.1:c.752A>T, XM_047431023.1:c.1958A>T, XM_047431018.1:c.1958A>T, XM_047431019.1:c.1958A>T, XM_047431021.1:c.1958A>T, XM_047431020.1:c.1958A>T, XM_047431022.1:c.1958A>T, XM_047431027.1:c.1532A>T, XM_047431025.1:c.1958A>T, XM_047431026.1:c.1958A>T, NP_689659.2:p.Glu653Val, XP_011534797.1:p.Glu653Val, XP_011534793.1:p.Glu653Val, XP_011534795.1:p.Glu653Val, XP_011534794.1:p.Glu653Val, XP_016876532.1:p.Glu251Val, XP_047286979.1:p.Glu653Val, XP_047286974.1:p.Glu653Val, XP_047286975.1:p.Glu653Val, XP_047286977.1:p.Glu653Val, XP_047286976.1:p.Glu653Val, XP_047286978.1:p.Glu653Val, XP_047286983.1:p.Glu511Val, XP_047286981.1:p.Glu653Val, XP_047286982.1:p.Glu653Val

                                        20.

                                        rs1471936280 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          14:80836213 (GRCh38)
                                          14:81302557 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:80836212:A:C
                                          Gene:
                                          CEP128 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.80836213A>C, NC_000014.8:g.81302557A>C, NM_152446.5:c.1049T>G, NM_152446.4:c.1049T>G, NM_152446.3:c.1049T>G, XM_011536495.3:c.1049T>G, XM_011536495.2:c.1049T>G, XM_011536495.1:c.1049T>G, XM_011536491.3:c.1049T>G, XM_011536491.2:c.1049T>G, XM_011536491.1:c.1049T>G, XM_011536493.3:c.1049T>G, XM_011536493.2:c.1049T>G, XM_011536493.1:c.1049T>G, XM_011536492.3:c.1049T>G, XM_011536492.2:c.1049T>G, XM_011536492.1:c.1049T>G, NR_157142.2:n.1378T>G, NR_157142.1:n.1378T>G, XM_047431023.1:c.1049T>G, XM_047431018.1:c.1049T>G, XM_047431019.1:c.1049T>G, XM_047431021.1:c.1049T>G, XM_047431020.1:c.1049T>G, XM_047431022.1:c.1049T>G, XM_047431027.1:c.623T>G, XM_047431025.1:c.1049T>G, XM_047431026.1:c.1049T>G, NM_177527.1:c.869T>G, NP_689659.2:p.Phe350Cys, XP_011534797.1:p.Phe350Cys, XP_011534793.1:p.Phe350Cys, XP_011534795.1:p.Phe350Cys, XP_011534794.1:p.Phe350Cys, XP_047286979.1:p.Phe350Cys, XP_047286974.1:p.Phe350Cys, XP_047286975.1:p.Phe350Cys, XP_047286977.1:p.Phe350Cys, XP_047286976.1:p.Phe350Cys, XP_047286978.1:p.Phe350Cys, XP_047286983.1:p.Phe208Cys, XP_047286981.1:p.Phe350Cys, XP_047286982.1:p.Phe350Cys

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