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Items: 1 to 20 of 717

1.

rs1489725032 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:118566177 (GRCh38)
    6:118887340 (GRCh37)
    Canonical SPDI:
    NC_000006.12:118566176:T:C
    Gene:
    CEP85L (Varview), LOC107986524 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000224/1 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000223/1 (Estonian)
    HGVS:

    2.

    rs1489411135 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      6:118566191 (GRCh38)
      6:118887354 (GRCh37)
      Canonical SPDI:
      NC_000006.12:118566190:G:T
      Gene:
      CEP85L (Varview), LOC107986524 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.118566191G>T, NC_000006.11:g.118887354G>T, NG_021248.1:g.148885C>A, NM_001042475.3:c.358C>A, NM_001042475.2:c.358C>A, NM_206921.3:c.358C>A, NM_206921.2:c.358C>A, NM_001178035.2:c.367C>A, NM_001178035.1:c.367C>A, XM_011535810.3:c.367C>A, XM_011535810.2:c.367C>A, XM_011535810.1:c.367C>A, XM_005266970.2:c.52C>A, XM_005266970.1:c.52C>A, XM_005266971.2:c.52C>A, XM_005266971.1:c.52C>A, XM_017010846.2:c.367C>A, XM_017010846.1:c.367C>A, XM_011535811.2:c.52C>A, XM_011535811.1:c.52C>A, XM_047418760.1:c.367C>A, XM_047418758.1:c.367C>A, XM_047418759.1:c.367C>A, XM_047418761.1:c.358C>A, NP_001035940.1:p.Pro120Thr, NP_996804.2:p.Pro120Thr, NP_001171506.1:p.Pro123Thr, XP_011534112.1:p.Pro123Thr, XP_005267027.1:p.Pro18Thr, XP_005267028.1:p.Pro18Thr, XP_016866335.1:p.Pro123Thr, XP_011534113.1:p.Pro18Thr, XP_047274716.1:p.Pro123Thr, XP_047274714.1:p.Pro123Thr, XP_047274715.1:p.Pro123Thr, XP_047274717.1:p.Pro120Thr

      3.

      rs1488626915 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        6:118465533 (GRCh38)
        6:118786696 (GRCh37)
        Canonical SPDI:
        NC_000006.12:118465532:G:C
        Gene:
        CEP85L (Varview), LOC105377971 (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
        HGVS:
        NC_000006.12:g.118465533G>C, NC_000006.11:g.118786696G>C, NG_021248.1:g.249543C>G, NM_001042475.3:c.2290C>G, NM_001042475.2:c.2290C>G, NM_001178035.2:c.2299C>G, NM_001178035.1:c.2299C>G, XM_005266972.5:c.1204C>G, XM_005266972.4:c.1204C>G, XM_005266972.3:c.1204C>G, XM_005266972.2:c.1204C>G, XM_005266972.1:c.1204C>G, XM_011535810.3:c.2119C>G, XM_011535810.2:c.2119C>G, XM_011535810.1:c.2119C>G, XM_005266970.2:c.1984C>G, XM_005266970.1:c.1984C>G, XM_005266971.2:c.1984C>G, XM_005266971.1:c.1984C>G, XM_017010846.2:c.2299C>G, XM_017010846.1:c.2299C>G, XM_011535811.2:c.1984C>G, XM_011535811.1:c.1984C>G, XM_047418760.1:c.2299C>G, XM_047418758.1:c.2299C>G, XM_047418759.1:c.2299C>G, XM_047418761.1:c.2110C>G, XM_047418762.1:c.1204C>G, NP_001035940.1:p.His764Asp, NP_001171506.1:p.His767Asp, XP_005267029.1:p.His402Asp, XP_011534112.1:p.His707Asp, XP_005267027.1:p.His662Asp, XP_005267028.1:p.His662Asp, XP_016866335.1:p.His767Asp, XP_011534113.1:p.His662Asp, XP_047274716.1:p.His767Asp, XP_047274714.1:p.His767Asp, XP_047274715.1:p.His767Asp, XP_047274717.1:p.His704Asp, XP_047274718.1:p.His402Asp

        4.

        rs1487431478 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:118465425 (GRCh38)
          6:118786588 (GRCh37)
          Canonical SPDI:
          NC_000006.12:118465424:C:T
          Gene:
          CEP85L (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000006.12:g.118465425C>T, NC_000006.11:g.118786588C>T, NG_021248.1:g.249651G>A, NM_001042475.3:c.2398G>A, NM_001042475.2:c.2398G>A, NM_001178035.2:c.2407G>A, NM_001178035.1:c.2407G>A, XM_005266972.5:c.1312G>A, XM_005266972.4:c.1312G>A, XM_005266972.3:c.1312G>A, XM_005266972.2:c.1312G>A, XM_005266972.1:c.1312G>A, XM_011535810.3:c.2227G>A, XM_011535810.2:c.2227G>A, XM_011535810.1:c.2227G>A, XM_005266970.2:c.2092G>A, XM_005266970.1:c.2092G>A, XM_005266971.2:c.2092G>A, XM_005266971.1:c.2092G>A, XM_017010846.2:c.2407G>A, XM_017010846.1:c.2407G>A, XM_011535811.2:c.2092G>A, XM_011535811.1:c.2092G>A, XM_047418760.1:c.2407G>A, XM_047418758.1:c.2407G>A, XM_047418759.1:c.2407G>A, XM_047418761.1:c.2218G>A, XM_047418762.1:c.1312G>A, NP_001035940.1:p.Asp800Asn, NP_001171506.1:p.Asp803Asn, XP_005267029.1:p.Asp438Asn, XP_011534112.1:p.Asp743Asn, XP_005267027.1:p.Asp698Asn, XP_005267028.1:p.Asp698Asn, XP_016866335.1:p.Asp803Asn, XP_011534113.1:p.Asp698Asn, XP_047274716.1:p.Asp803Asn, XP_047274714.1:p.Asp803Asn, XP_047274715.1:p.Asp803Asn, XP_047274717.1:p.Asp740Asn, XP_047274718.1:p.Asp438Asn

          5.

          rs1479969290 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:118481883 (GRCh38)
            6:118803046 (GRCh37)
            Canonical SPDI:
            NC_000006.12:118481882:A:G
            Gene:
            CEP85L (Varview), LOC105377971 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
            HGVS:

            6.

            rs1479761448 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              6:118465467 (GRCh38)
              6:118786630 (GRCh37)
              Canonical SPDI:
              NC_000006.12:118465466:A:T
              Gene:
              CEP85L (Varview), LOC105377971 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.118465467A>T, NC_000006.11:g.118786630A>T, NG_021248.1:g.249609T>A, NM_001042475.3:c.2356T>A, NM_001042475.2:c.2356T>A, NM_001178035.2:c.2365T>A, NM_001178035.1:c.2365T>A, XM_005266972.5:c.1270T>A, XM_005266972.4:c.1270T>A, XM_005266972.3:c.1270T>A, XM_005266972.2:c.1270T>A, XM_005266972.1:c.1270T>A, XM_011535810.3:c.2185T>A, XM_011535810.2:c.2185T>A, XM_011535810.1:c.2185T>A, XM_005266970.2:c.2050T>A, XM_005266970.1:c.2050T>A, XM_005266971.2:c.2050T>A, XM_005266971.1:c.2050T>A, XM_017010846.2:c.2365T>A, XM_017010846.1:c.2365T>A, XM_011535811.2:c.2050T>A, XM_011535811.1:c.2050T>A, XM_047418760.1:c.2365T>A, XM_047418758.1:c.2365T>A, XM_047418759.1:c.2365T>A, XM_047418761.1:c.2176T>A, XM_047418762.1:c.1270T>A, NP_001035940.1:p.Leu786Ile, NP_001171506.1:p.Leu789Ile, XP_005267029.1:p.Leu424Ile, XP_011534112.1:p.Leu729Ile, XP_005267027.1:p.Leu684Ile, XP_005267028.1:p.Leu684Ile, XP_016866335.1:p.Leu789Ile, XP_011534113.1:p.Leu684Ile, XP_047274716.1:p.Leu789Ile, XP_047274714.1:p.Leu789Ile, XP_047274715.1:p.Leu789Ile, XP_047274717.1:p.Leu726Ile, XP_047274718.1:p.Leu424Ile

              7.

              rs1479561143 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                6:118565660 (GRCh38)
                6:118886823 (GRCh37)
                Canonical SPDI:
                NC_000006.12:118565659:G:C,NC_000006.12:118565659:G:T
                Gene:
                CEP85L (Varview), LOC107986524 (Varview)
                Functional Consequence:
                coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000224/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000223/1 (Estonian)
                HGVS:
                NC_000006.12:g.118565660G>C, NC_000006.12:g.118565660G>T, NC_000006.11:g.118886823G>C, NC_000006.11:g.118886823G>T, NG_021248.1:g.149416C>G, NG_021248.1:g.149416C>A, NM_001042475.3:c.889C>G, NM_001042475.3:c.889C>A, NM_001042475.2:c.889C>G, NM_001042475.2:c.889C>A, NM_206921.3:c.889C>G, NM_206921.3:c.889C>A, NM_206921.2:c.889C>G, NM_206921.2:c.889C>A, NM_001178035.2:c.898C>G, NM_001178035.2:c.898C>A, NM_001178035.1:c.898C>G, NM_001178035.1:c.898C>A, XM_011535810.3:c.898C>G, XM_011535810.3:c.898C>A, XM_011535810.2:c.898C>G, XM_011535810.2:c.898C>A, XM_011535810.1:c.898C>G, XM_011535810.1:c.898C>A, XM_005266970.2:c.583C>G, XM_005266970.2:c.583C>A, XM_005266970.1:c.583C>G, XM_005266970.1:c.583C>A, XM_005266971.2:c.583C>G, XM_005266971.2:c.583C>A, XM_005266971.1:c.583C>G, XM_005266971.1:c.583C>A, XM_017010846.2:c.898C>G, XM_017010846.2:c.898C>A, XM_017010846.1:c.898C>G, XM_017010846.1:c.898C>A, XM_011535811.2:c.583C>G, XM_011535811.2:c.583C>A, XM_011535811.1:c.583C>G, XM_011535811.1:c.583C>A, XM_047418760.1:c.898C>G, XM_047418760.1:c.898C>A, XM_047418758.1:c.898C>G, XM_047418758.1:c.898C>A, XM_047418759.1:c.898C>G, XM_047418759.1:c.898C>A, XM_047418761.1:c.889C>G, XM_047418761.1:c.889C>A, NP_001035940.1:p.Gln297Glu, NP_001035940.1:p.Gln297Lys, NP_996804.2:p.Gln297Glu, NP_996804.2:p.Gln297Lys, NP_001171506.1:p.Gln300Glu, NP_001171506.1:p.Gln300Lys, XP_011534112.1:p.Gln300Glu, XP_011534112.1:p.Gln300Lys, XP_005267027.1:p.Gln195Glu, XP_005267027.1:p.Gln195Lys, XP_005267028.1:p.Gln195Glu, XP_005267028.1:p.Gln195Lys, XP_016866335.1:p.Gln300Glu, XP_016866335.1:p.Gln300Lys, XP_011534113.1:p.Gln195Glu, XP_011534113.1:p.Gln195Lys, XP_047274716.1:p.Gln300Glu, XP_047274716.1:p.Gln300Lys, XP_047274714.1:p.Gln300Glu, XP_047274714.1:p.Gln300Lys, XP_047274715.1:p.Gln300Glu, XP_047274715.1:p.Gln300Lys, XP_047274717.1:p.Gln297Glu, XP_047274717.1:p.Gln297Lys

                8.

                rs1479399824 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:118565810 (GRCh38)
                  6:118886973 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:118565809:G:A
                  Gene:
                  CEP85L (Varview), LOC107986524 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.118565810G>A, NC_000006.11:g.118886973G>A, NG_021248.1:g.149266C>T, NM_001042475.3:c.739C>T, NM_001042475.2:c.739C>T, NM_206921.3:c.739C>T, NM_206921.2:c.739C>T, NM_001178035.2:c.748C>T, NM_001178035.1:c.748C>T, XM_011535810.3:c.748C>T, XM_011535810.2:c.748C>T, XM_011535810.1:c.748C>T, XM_005266970.2:c.433C>T, XM_005266970.1:c.433C>T, XM_005266971.2:c.433C>T, XM_005266971.1:c.433C>T, XM_017010846.2:c.748C>T, XM_017010846.1:c.748C>T, XM_011535811.2:c.433C>T, XM_011535811.1:c.433C>T, XM_047418760.1:c.748C>T, XM_047418758.1:c.748C>T, XM_047418759.1:c.748C>T, XM_047418761.1:c.739C>T, NP_001035940.1:p.Leu247Phe, NP_996804.2:p.Leu247Phe, NP_001171506.1:p.Leu250Phe, XP_011534112.1:p.Leu250Phe, XP_005267027.1:p.Leu145Phe, XP_005267028.1:p.Leu145Phe, XP_016866335.1:p.Leu250Phe, XP_011534113.1:p.Leu145Phe, XP_047274716.1:p.Leu250Phe, XP_047274714.1:p.Leu250Phe, XP_047274715.1:p.Leu250Phe, XP_047274717.1:p.Leu247Phe

                  9.

                  rs1477614224 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:118511369 (GRCh38)
                    6:118832532 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:118511368:C:T
                    Gene:
                    CEP85L (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.118511369C>T, NC_000006.11:g.118832532C>T, NG_021248.1:g.203707G>A, NM_001042475.3:c.1186G>A, NM_001042475.2:c.1186G>A, NM_206921.3:c.1186G>A, NM_206921.2:c.1186G>A, NM_001178035.2:c.1195G>A, NM_001178035.1:c.1195G>A, XM_005266972.5:c.100G>A, XM_005266972.4:c.100G>A, XM_005266972.3:c.100G>A, XM_005266972.2:c.100G>A, XM_005266972.1:c.100G>A, XM_011535810.3:c.1195G>A, XM_011535810.2:c.1195G>A, XM_011535810.1:c.1195G>A, XM_005266970.2:c.880G>A, XM_005266970.1:c.880G>A, XM_005266971.2:c.880G>A, XM_005266971.1:c.880G>A, XM_017010846.2:c.1195G>A, XM_017010846.1:c.1195G>A, XM_011535811.2:c.880G>A, XM_011535811.1:c.880G>A, XM_047418760.1:c.1195G>A, XM_047418758.1:c.1195G>A, XM_047418759.1:c.1195G>A, XM_047418761.1:c.1186G>A, XM_047418762.1:c.100G>A, NP_001035940.1:p.Glu396Lys, NP_996804.2:p.Glu396Lys, NP_001171506.1:p.Glu399Lys, XP_005267029.1:p.Glu34Lys, XP_011534112.1:p.Glu399Lys, XP_005267027.1:p.Glu294Lys, XP_005267028.1:p.Glu294Lys, XP_016866335.1:p.Glu399Lys, XP_011534113.1:p.Glu294Lys, XP_047274716.1:p.Glu399Lys, XP_047274714.1:p.Glu399Lys, XP_047274715.1:p.Glu399Lys, XP_047274717.1:p.Glu396Lys, XP_047274718.1:p.Glu34Lys

                    10.

                    rs1476304215 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:118483767 (GRCh38)
                      6:118804930 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:118483766:G:A
                      Gene:
                      CEP85L (Varview), LOC105377971 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000006.12:g.118483767G>A, NC_000006.11:g.118804930G>A, NG_021248.1:g.231309C>T, NM_001042475.3:c.1529C>T, NM_001042475.2:c.1529C>T, NM_001178035.2:c.1538C>T, NM_001178035.1:c.1538C>T, XM_005266972.5:c.443C>T, XM_005266972.4:c.443C>T, XM_005266972.3:c.443C>T, XM_005266972.2:c.443C>T, XM_005266972.1:c.443C>T, XM_011535810.3:c.1358C>T, XM_011535810.2:c.1358C>T, XM_011535810.1:c.1358C>T, XM_005266970.2:c.1223C>T, XM_005266970.1:c.1223C>T, XM_005266971.2:c.1223C>T, XM_005266971.1:c.1223C>T, XM_017010846.2:c.1538C>T, XM_017010846.1:c.1538C>T, XM_011535811.2:c.1223C>T, XM_011535811.1:c.1223C>T, XM_047418760.1:c.1538C>T, XM_047418758.1:c.1538C>T, XM_047418759.1:c.1538C>T, XM_047418761.1:c.1349C>T, XM_047418762.1:c.443C>T, NP_001035940.1:p.Thr510Ile, NP_001171506.1:p.Thr513Ile, XP_005267029.1:p.Thr148Ile, XP_011534112.1:p.Thr453Ile, XP_005267027.1:p.Thr408Ile, XP_005267028.1:p.Thr408Ile, XP_016866335.1:p.Thr513Ile, XP_011534113.1:p.Thr408Ile, XP_047274716.1:p.Thr513Ile, XP_047274714.1:p.Thr513Ile, XP_047274715.1:p.Thr513Ile, XP_047274717.1:p.Thr450Ile, XP_047274718.1:p.Thr148Ile

                      11.

                      rs1473032554 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:118566152 (GRCh38)
                        6:118887315 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:118566151:A:G
                        Gene:
                        CEP85L (Varview), LOC107986524 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1471411420 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:118565592 (GRCh38)
                          6:118886755 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:118565591:A:C
                          Gene:
                          CEP85L (Varview), LOC107986524 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.118565592A>C, NC_000006.11:g.118886755A>C, NG_021248.1:g.149484T>G, NM_001042475.3:c.957T>G, NM_001042475.2:c.957T>G, NM_206921.3:c.957T>G, NM_206921.2:c.957T>G, NM_001178035.2:c.966T>G, NM_001178035.1:c.966T>G, XM_011535810.3:c.966T>G, XM_011535810.2:c.966T>G, XM_011535810.1:c.966T>G, XM_005266970.2:c.651T>G, XM_005266970.1:c.651T>G, XM_005266971.2:c.651T>G, XM_005266971.1:c.651T>G, XM_017010846.2:c.966T>G, XM_017010846.1:c.966T>G, XM_011535811.2:c.651T>G, XM_011535811.1:c.651T>G, XM_047418760.1:c.966T>G, XM_047418758.1:c.966T>G, XM_047418759.1:c.966T>G, XM_047418761.1:c.957T>G, NP_001035940.1:p.Ser319Arg, NP_996804.2:p.Ser319Arg, NP_001171506.1:p.Ser322Arg, XP_011534112.1:p.Ser322Arg, XP_005267027.1:p.Ser217Arg, XP_005267028.1:p.Ser217Arg, XP_016866335.1:p.Ser322Arg, XP_011534113.1:p.Ser217Arg, XP_047274716.1:p.Ser322Arg, XP_047274714.1:p.Ser322Arg, XP_047274715.1:p.Ser322Arg, XP_047274717.1:p.Ser319Arg

                          13.

                          rs1471402724 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            6:118566284 (GRCh38)
                            6:118887447 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:118566283:T:A
                            Gene:
                            CEP85L (Varview), LOC107986524 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_variant,intron_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_000006.12:g.118566284T>A, NC_000006.11:g.118887447T>A, NG_021248.1:g.148792A>T, NM_001042475.3:c.265A>T, NM_001042475.2:c.265A>T, NM_206921.3:c.265A>T, NM_206921.2:c.265A>T, NM_001178035.2:c.274A>T, NM_001178035.1:c.274A>T, XM_011535810.3:c.274A>T, XM_011535810.2:c.274A>T, XM_011535810.1:c.274A>T, XM_005266970.2:c.-42A>T, XM_005266970.1:c.-42A>T, XM_005266971.2:c.-42A>T, XM_005266971.1:c.-42A>T, XM_017010846.2:c.274A>T, XM_017010846.1:c.274A>T, XM_011535811.2:c.-42A>T, XM_011535811.1:c.-42A>T, XM_047418760.1:c.274A>T, XM_047418758.1:c.274A>T, XM_047418759.1:c.274A>T, XM_047418761.1:c.265A>T, NP_001035940.1:p.Lys89Ter, NP_996804.2:p.Lys89Ter, NP_001171506.1:p.Lys92Ter, XP_011534112.1:p.Lys92Ter, XP_016866335.1:p.Lys92Ter, XP_047274716.1:p.Lys92Ter, XP_047274714.1:p.Lys92Ter, XP_047274715.1:p.Lys92Ter, XP_047274717.1:p.Lys89Ter

                            14.

                            rs1470806275 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              6:118483805 (GRCh38)
                              6:118804968 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:118483804:T:G
                              Gene:
                              CEP85L (Varview), LOC105377971 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.118483805T>G, NC_000006.11:g.118804968T>G, NG_021248.1:g.231271A>C, NM_001042475.3:c.1491A>C, NM_001042475.2:c.1491A>C, NM_001178035.2:c.1500A>C, NM_001178035.1:c.1500A>C, XM_005266972.5:c.405A>C, XM_005266972.4:c.405A>C, XM_005266972.3:c.405A>C, XM_005266972.2:c.405A>C, XM_005266972.1:c.405A>C, XM_011535810.3:c.1320A>C, XM_011535810.2:c.1320A>C, XM_011535810.1:c.1320A>C, XM_005266970.2:c.1185A>C, XM_005266970.1:c.1185A>C, XM_005266971.2:c.1185A>C, XM_005266971.1:c.1185A>C, XM_017010846.2:c.1500A>C, XM_017010846.1:c.1500A>C, XM_011535811.2:c.1185A>C, XM_011535811.1:c.1185A>C, XM_047418760.1:c.1500A>C, XM_047418758.1:c.1500A>C, XM_047418759.1:c.1500A>C, XM_047418761.1:c.1311A>C, XM_047418762.1:c.405A>C, NP_001035940.1:p.Glu497Asp, NP_001171506.1:p.Glu500Asp, XP_005267029.1:p.Glu135Asp, XP_011534112.1:p.Glu440Asp, XP_005267027.1:p.Glu395Asp, XP_005267028.1:p.Glu395Asp, XP_016866335.1:p.Glu500Asp, XP_011534113.1:p.Glu395Asp, XP_047274716.1:p.Glu500Asp, XP_047274714.1:p.Glu500Asp, XP_047274715.1:p.Glu500Asp, XP_047274717.1:p.Glu437Asp, XP_047274718.1:p.Glu135Asp

                              15.

                              rs1469150736 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:118481828 (GRCh38)
                                6:118802991 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:118481827:A:G
                                Gene:
                                CEP85L (Varview), LOC105377971 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1465149783 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  6:118566010 (GRCh38)
                                  6:118887173 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:118566009:C:G
                                  Gene:
                                  CEP85L (Varview), LOC107986524 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000006.12:g.118566010C>G, NC_000006.11:g.118887173C>G, NG_021248.1:g.149066G>C, NM_001042475.3:c.539G>C, NM_001042475.2:c.539G>C, NM_206921.3:c.539G>C, NM_206921.2:c.539G>C, NM_001178035.2:c.548G>C, NM_001178035.1:c.548G>C, XM_011535810.3:c.548G>C, XM_011535810.2:c.548G>C, XM_011535810.1:c.548G>C, XM_005266970.2:c.233G>C, XM_005266970.1:c.233G>C, XM_005266971.2:c.233G>C, XM_005266971.1:c.233G>C, XM_017010846.2:c.548G>C, XM_017010846.1:c.548G>C, XM_011535811.2:c.233G>C, XM_011535811.1:c.233G>C, XM_047418760.1:c.548G>C, XM_047418758.1:c.548G>C, XM_047418759.1:c.548G>C, XM_047418761.1:c.539G>C, NP_001035940.1:p.Arg180Thr, NP_996804.2:p.Arg180Thr, NP_001171506.1:p.Arg183Thr, XP_011534112.1:p.Arg183Thr, XP_005267027.1:p.Arg78Thr, XP_005267028.1:p.Arg78Thr, XP_016866335.1:p.Arg183Thr, XP_011534113.1:p.Arg78Thr, XP_047274716.1:p.Arg183Thr, XP_047274714.1:p.Arg183Thr, XP_047274715.1:p.Arg183Thr, XP_047274717.1:p.Arg180Thr

                                  17.

                                  rs1464623694 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:118491801 (GRCh38)
                                    6:118812964 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:118491800:T:C
                                    Gene:
                                    CEP85L (Varview), LOC105377971 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.118491801T>C, NC_000006.11:g.118812964T>C, NG_021248.1:g.223275A>G, NM_001042475.3:c.1322A>G, NM_001042475.2:c.1322A>G, NM_206921.3:c.1322A>G, NM_206921.2:c.1322A>G, NM_001178035.2:c.1331A>G, NM_001178035.1:c.1331A>G, XM_005266972.5:c.236A>G, XM_005266972.4:c.236A>G, XM_005266972.3:c.236A>G, XM_005266972.2:c.236A>G, XM_005266972.1:c.236A>G, XM_005266970.2:c.1016A>G, XM_005266970.1:c.1016A>G, XM_005266971.2:c.1016A>G, XM_005266971.1:c.1016A>G, XM_017010846.2:c.1331A>G, XM_017010846.1:c.1331A>G, XM_011535811.2:c.1016A>G, XM_011535811.1:c.1016A>G, XM_047418760.1:c.1331A>G, XM_047418758.1:c.1331A>G, XM_047418759.1:c.1331A>G, XM_047418762.1:c.236A>G, NP_001035940.1:p.Gln441Arg, NP_996804.2:p.Gln441Arg, NP_001171506.1:p.Gln444Arg, XP_005267029.1:p.Gln79Arg, XP_005267027.1:p.Gln339Arg, XP_005267028.1:p.Gln339Arg, XP_016866335.1:p.Gln444Arg, XP_011534113.1:p.Gln339Arg, XP_047274716.1:p.Gln444Arg, XP_047274714.1:p.Gln444Arg, XP_047274715.1:p.Gln444Arg, XP_047274718.1:p.Gln79Arg

                                    18.

                                    rs1464311844 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      6:118565885 (GRCh38)
                                      6:118887049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:118565885:TTTTTT:TTTTTTT
                                      Gene:
                                      CEP85L (Varview), LOC107986524 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTTTTTT=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.118565891dup, NC_000006.11:g.118887054dup, NG_021248.1:g.149190dup, NM_001042475.3:c.663dup, NM_001042475.2:c.663dup, NM_206921.3:c.663dup, NM_206921.2:c.663dup, NM_001178035.2:c.672dup, NM_001178035.1:c.672dup, XM_011535810.3:c.672dup, XM_011535810.2:c.672dup, XM_011535810.1:c.672dup, XM_005266970.2:c.357dup, XM_005266970.1:c.357dup, XM_005266971.2:c.357dup, XM_005266971.1:c.357dup, XM_017010846.2:c.672dup, XM_017010846.1:c.672dup, XM_011535811.2:c.357dup, XM_011535811.1:c.357dup, XM_047418760.1:c.672dup, XM_047418758.1:c.672dup, XM_047418759.1:c.672dup, XM_047418761.1:c.663dup, NP_001035940.1:p.Arg222fs, NP_996804.2:p.Arg222fs, NP_001171506.1:p.Arg225fs, XP_011534112.1:p.Arg225fs, XP_005267027.1:p.Arg120fs, XP_005267028.1:p.Arg120fs, XP_016866335.1:p.Arg225fs, XP_011534113.1:p.Arg120fs, XP_047274716.1:p.Arg225fs, XP_047274714.1:p.Arg225fs, XP_047274715.1:p.Arg225fs, XP_047274717.1:p.Arg222fs

                                      19.

                                      rs1462038270 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        6:118469109 (GRCh38)
                                        6:118790272 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:118469108:G:A,NC_000006.12:118469108:G:T
                                        Gene:
                                        CEP85L (Varview), LOC105377971 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        T=0.000106/28 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.118469109G>A, NC_000006.12:g.118469109G>T, NC_000006.11:g.118790272G>A, NC_000006.11:g.118790272G>T, NG_021248.1:g.245967C>T, NG_021248.1:g.245967C>A, NM_001042475.3:c.2217C>T, NM_001042475.3:c.2217C>A, NM_001042475.2:c.2217C>T, NM_001042475.2:c.2217C>A, NM_001178035.2:c.2226C>T, NM_001178035.2:c.2226C>A, NM_001178035.1:c.2226C>T, NM_001178035.1:c.2226C>A, XM_005266972.5:c.1131C>T, XM_005266972.5:c.1131C>A, XM_005266972.4:c.1131C>T, XM_005266972.4:c.1131C>A, XM_005266972.3:c.1131C>T, XM_005266972.3:c.1131C>A, XM_005266972.2:c.1131C>T, XM_005266972.2:c.1131C>A, XM_005266972.1:c.1131C>T, XM_005266972.1:c.1131C>A, XM_011535810.3:c.2046C>T, XM_011535810.3:c.2046C>A, XM_011535810.2:c.2046C>T, XM_011535810.2:c.2046C>A, XM_011535810.1:c.2046C>T, XM_011535810.1:c.2046C>A, XM_005266970.2:c.1911C>T, XM_005266970.2:c.1911C>A, XM_005266970.1:c.1911C>T, XM_005266970.1:c.1911C>A, XM_005266971.2:c.1911C>T, XM_005266971.2:c.1911C>A, XM_005266971.1:c.1911C>T, XM_005266971.1:c.1911C>A, XM_017010846.2:c.2226C>T, XM_017010846.2:c.2226C>A, XM_017010846.1:c.2226C>T, XM_017010846.1:c.2226C>A, XM_011535811.2:c.1911C>T, XM_011535811.2:c.1911C>A, XM_011535811.1:c.1911C>T, XM_011535811.1:c.1911C>A, XM_047418760.1:c.2226C>T, XM_047418760.1:c.2226C>A, XM_047418758.1:c.2226C>T, XM_047418758.1:c.2226C>A, XM_047418759.1:c.2226C>T, XM_047418759.1:c.2226C>A, XM_047418761.1:c.2037C>T, XM_047418761.1:c.2037C>A, XM_047418762.1:c.1131C>T, XM_047418762.1:c.1131C>A

                                        20.

                                        rs1461920039 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:118483753 (GRCh38)
                                          6:118804916 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:118483752:G:A
                                          Gene:
                                          CEP85L (Varview), LOC105377971 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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