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Items: 1 to 20 of 592

1.

rs1490355452 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    3:138498037 (GRCh38)
    3:138216879 (GRCh37)
    Canonical SPDI:
    NC_000003.12:138498036:T:G
    Gene:
    CEP70 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000011/3 (TOPMED)
    HGVS:
    NC_000003.12:g.138498037T>G, NC_000003.11:g.138216879T>G, NM_024491.4:c.1726A>C, NM_024491.3:c.1726A>C, NM_024491.2:c.1726A>C, XM_017007281.3:c.949A>C, XM_017007281.2:c.949A>C, XM_017007281.1:c.949A>C, XM_017007276.3:c.1372A>C, XM_017007276.2:c.1372A>C, XM_017007276.1:c.1372A>C, XM_017007274.2:c.1666A>C, XM_017007274.1:c.1666A>C, NM_001320598.2:c.1726A>C, NM_001320598.1:c.1726A>C, XM_024453780.2:c.1726A>C, XM_024453780.1:c.1726A>C, NM_001288964.2:c.1672A>C, NM_001288964.1:c.1672A>C, XM_017007271.2:c.1726A>C, XM_017007271.1:c.1726A>C, NM_001288965.2:c.1666A>C, NM_001288965.1:c.1666A>C, XM_017007273.2:c.1666A>C, XM_017007273.1:c.1666A>C, XM_024453781.2:c.1726A>C, XM_024453781.1:c.1726A>C, NM_001320599.2:c.1726A>C, NM_001320599.1:c.1726A>C, NM_001288967.2:c.1270A>C, NM_001288967.1:c.1270A>C, XM_017007277.2:c.1270A>C, XM_017007277.1:c.1270A>C, XM_047449017.1:c.1726A>C, XM_047449020.1:c.1666A>C, XM_047449023.1:c.1270A>C, XM_047449019.1:c.1666A>C, XM_047449021.1:c.1198A>C, XM_047449022.1:c.1270A>C, XM_047449025.1:c.949A>C, XM_047449024.1:c.1048A>C, NP_077817.2:p.Ile576Leu, XP_016862770.1:p.Ile317Leu, XP_016862765.1:p.Ile458Leu, XP_016862763.1:p.Ile556Leu, NP_001307527.1:p.Ile576Leu, XP_024309548.1:p.Ile576Leu, NP_001275893.1:p.Ile558Leu, XP_016862760.1:p.Ile576Leu, NP_001275894.1:p.Ile556Leu, XP_016862762.1:p.Ile556Leu, XP_024309549.1:p.Ile576Leu, NP_001307528.1:p.Ile576Leu, NP_001275896.1:p.Ile424Leu, XP_016862766.1:p.Ile424Leu, XP_047304973.1:p.Ile576Leu, XP_047304976.1:p.Ile556Leu, XP_047304979.1:p.Ile424Leu, XP_047304975.1:p.Ile556Leu, XP_047304977.1:p.Ile400Leu, XP_047304978.1:p.Ile424Leu, XP_047304981.1:p.Ile317Leu, XP_047304980.1:p.Ile350Leu

    2.

    rs1488817908 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:138500565 (GRCh38)
      3:138219407 (GRCh37)
      Canonical SPDI:
      NC_000003.12:138500564:G:A
      Gene:
      CEP70 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.138500565G>A, NC_000003.11:g.138219407G>A, NM_024491.4:c.1371C>T, NM_024491.3:c.1371C>T, NM_024491.2:c.1371C>T, XM_017007281.3:c.594C>T, XM_017007281.2:c.594C>T, XM_017007281.1:c.594C>T, XM_017007276.3:c.1017C>T, XM_017007276.2:c.1017C>T, XM_017007276.1:c.1017C>T, XM_017007274.2:c.1311C>T, XM_017007274.1:c.1311C>T, NM_001320598.2:c.1371C>T, NM_001320598.1:c.1371C>T, XM_024453780.2:c.1371C>T, XM_024453780.1:c.1371C>T, NM_001288964.2:c.1317C>T, NM_001288964.1:c.1317C>T, XM_017007271.2:c.1371C>T, XM_017007271.1:c.1371C>T, NM_001288965.2:c.1311C>T, NM_001288965.1:c.1311C>T, XM_017007273.2:c.1311C>T, XM_017007273.1:c.1311C>T, XM_024453781.2:c.1371C>T, XM_024453781.1:c.1371C>T, NM_001320599.2:c.1371C>T, NM_001320599.1:c.1371C>T, NM_001288967.2:c.915C>T, NM_001288967.1:c.915C>T, XM_017007277.2:c.915C>T, XM_017007277.1:c.915C>T, NM_001288966.2:c.1371C>T, NM_001288966.1:c.1371C>T, XM_047449017.1:c.1371C>T, XM_047449020.1:c.1311C>T, XM_047449023.1:c.915C>T, XM_047449019.1:c.1311C>T, XM_047449021.1:c.843C>T, XM_047449022.1:c.915C>T, XM_047449025.1:c.594C>T, XM_047449024.1:c.693C>T

      3.

      rs1485987240 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:138500818 (GRCh38)
        3:138219660 (GRCh37)
        Canonical SPDI:
        NC_000003.12:138500817:G:A
        Gene:
        CEP70 (Varview)
        Functional Consequence:
        coding_sequence_variant,downstream_transcript_variant,stop_gained,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.138500818G>A, NC_000003.11:g.138219660G>A, NM_024491.4:c.1285C>T, NM_024491.3:c.1285C>T, NM_024491.2:c.1285C>T, XM_017007281.3:c.508C>T, XM_017007281.2:c.508C>T, XM_017007281.1:c.508C>T, XM_017007276.3:c.931C>T, XM_017007276.2:c.931C>T, XM_017007276.1:c.931C>T, XM_017007274.2:c.1225C>T, XM_017007274.1:c.1225C>T, NM_001320598.2:c.1285C>T, NM_001320598.1:c.1285C>T, XM_024453780.2:c.1285C>T, XM_024453780.1:c.1285C>T, NM_001288964.2:c.1231C>T, NM_001288964.1:c.1231C>T, XM_017007271.2:c.1285C>T, XM_017007271.1:c.1285C>T, NM_001288965.2:c.1225C>T, NM_001288965.1:c.1225C>T, XM_017007273.2:c.1225C>T, XM_017007273.1:c.1225C>T, XM_024453781.2:c.1285C>T, XM_024453781.1:c.1285C>T, NM_001320599.2:c.1285C>T, NM_001320599.1:c.1285C>T, NM_001288967.2:c.829C>T, NM_001288967.1:c.829C>T, XM_017007277.2:c.829C>T, XM_017007277.1:c.829C>T, NM_001288966.2:c.1285C>T, NM_001288966.1:c.1285C>T, XM_047449017.1:c.1285C>T, XM_047449020.1:c.1225C>T, XM_047449023.1:c.829C>T, XM_047449019.1:c.1225C>T, XM_047449021.1:c.757C>T, XM_047449022.1:c.829C>T, XM_047449025.1:c.508C>T, XM_047449024.1:c.607C>T, NP_077817.2:p.Gln429Ter, XP_016862770.1:p.Gln170Ter, XP_016862765.1:p.Gln311Ter, XP_016862763.1:p.Gln409Ter, NP_001307527.1:p.Gln429Ter, XP_024309548.1:p.Gln429Ter, NP_001275893.1:p.Gln411Ter, XP_016862760.1:p.Gln429Ter, NP_001275894.1:p.Gln409Ter, XP_016862762.1:p.Gln409Ter, XP_024309549.1:p.Gln429Ter, NP_001307528.1:p.Gln429Ter, NP_001275896.1:p.Gln277Ter, XP_016862766.1:p.Gln277Ter, NP_001275895.1:p.Gln429Ter, XP_047304973.1:p.Gln429Ter, XP_047304976.1:p.Gln409Ter, XP_047304979.1:p.Gln277Ter, XP_047304975.1:p.Gln409Ter, XP_047304977.1:p.Gln253Ter, XP_047304978.1:p.Gln277Ter, XP_047304981.1:p.Gln170Ter, XP_047304980.1:p.Gln203Ter

        4.

        rs1485755987 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:138500873 (GRCh38)
          3:138219715 (GRCh37)
          Canonical SPDI:
          NC_000003.12:138500872:A:G
          Gene:
          CEP70 (Varview)
          Functional Consequence:
          coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.138500873A>G, NC_000003.11:g.138219715A>G, NM_024491.4:c.1230T>C, NM_024491.3:c.1230T>C, NM_024491.2:c.1230T>C, XM_017007281.3:c.453T>C, XM_017007281.2:c.453T>C, XM_017007281.1:c.453T>C, XM_017007276.3:c.876T>C, XM_017007276.2:c.876T>C, XM_017007276.1:c.876T>C, XM_017007274.2:c.1170T>C, XM_017007274.1:c.1170T>C, NM_001320598.2:c.1230T>C, NM_001320598.1:c.1230T>C, XM_024453780.2:c.1230T>C, XM_024453780.1:c.1230T>C, NM_001288964.2:c.1176T>C, NM_001288964.1:c.1176T>C, XM_017007271.2:c.1230T>C, XM_017007271.1:c.1230T>C, NM_001288965.2:c.1170T>C, NM_001288965.1:c.1170T>C, XM_017007273.2:c.1170T>C, XM_017007273.1:c.1170T>C, XM_024453781.2:c.1230T>C, XM_024453781.1:c.1230T>C, NM_001320599.2:c.1230T>C, NM_001320599.1:c.1230T>C, NM_001288967.2:c.774T>C, NM_001288967.1:c.774T>C, XM_017007277.2:c.774T>C, XM_017007277.1:c.774T>C, NM_001288966.2:c.1230T>C, NM_001288966.1:c.1230T>C, XM_047449017.1:c.1230T>C, XM_047449020.1:c.1170T>C, XM_047449023.1:c.774T>C, XM_047449019.1:c.1170T>C, XM_047449021.1:c.702T>C, XM_047449022.1:c.774T>C, XM_047449025.1:c.453T>C, XM_047449024.1:c.552T>C

          5.

          rs1485290598 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:138572876 (GRCh38)
            3:138291718 (GRCh37)
            Canonical SPDI:
            NC_000003.12:138572875:G:A
            Gene:
            CEP70 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.138572876G>A, NC_000003.11:g.138291718G>A, XM_011513209.4:c.52C>T, XM_011513209.3:c.52C>T, XM_011513209.2:c.52C>T, XM_011513209.1:c.52C>T, NM_024491.4:c.52C>T, NM_024491.3:c.52C>T, NM_024491.2:c.52C>T, NM_001320598.2:c.52C>T, NM_001320598.1:c.52C>T, XM_024453780.2:c.52C>T, XM_024453780.1:c.52C>T, NM_001288964.2:c.-3C>T, NM_001288964.1:c.-3C>T, XM_017007271.2:c.52C>T, XM_017007271.1:c.52C>T, XM_024453781.2:c.52C>T, XM_024453781.1:c.52C>T, NM_001320599.2:c.52C>T, NM_001320599.1:c.52C>T, NM_001288966.2:c.52C>T, NM_001288966.1:c.52C>T, XM_047449017.1:c.52C>T, NM_001320600.1:c.52C>T, XP_011511511.1:p.Leu18Phe, NP_077817.2:p.Leu18Phe, NP_001307527.1:p.Leu18Phe, XP_024309548.1:p.Leu18Phe, XP_016862760.1:p.Leu18Phe, XP_024309549.1:p.Leu18Phe, NP_001307528.1:p.Leu18Phe, NP_001275895.1:p.Leu18Phe, XP_047304973.1:p.Leu18Phe, NP_001307529.1:p.Leu18Phe

            6.

            rs1484250266 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              3:138571075 (GRCh38)
              3:138289917 (GRCh37)
              Canonical SPDI:
              NC_000003.12:138571073:TCT:T
              Gene:
              CEP70 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000051/1 (ALFA)
              -=0.000004/1 (GnomAD_exomes)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.138571075_138571076del, NC_000003.11:g.138289917_138289918del, XM_011513209.4:c.243_244del, XM_011513209.3:c.243_244del, XM_011513209.2:c.243_244del, XM_011513209.1:c.243_244del, NM_024491.4:c.243_244del, NM_024491.3:c.243_244del, NM_024491.2:c.243_244del, XM_017007276.3:c.-140_-139del, XM_017007276.2:c.-140_-139del, XM_017007276.1:c.-140_-139del, XM_017007274.2:c.183_184del, XM_017007274.1:c.183_184del, NM_001320598.2:c.243_244del, NM_001320598.1:c.243_244del, XM_024453780.2:c.243_244del, XM_024453780.1:c.243_244del, NM_001288964.2:c.189_190del, NM_001288964.1:c.189_190del, XM_017007271.2:c.243_244del, XM_017007271.1:c.243_244del, NM_001288965.2:c.183_184del, NM_001288965.1:c.183_184del, XM_017007273.2:c.183_184del, XM_017007273.1:c.183_184del, XM_024453781.2:c.243_244del, XM_024453781.1:c.243_244del, NM_001320599.2:c.243_244del, NM_001320599.1:c.243_244del, NM_001288966.2:c.243_244del, NM_001288966.1:c.243_244del, XM_047449017.1:c.243_244del, XM_047449020.1:c.183_184del, XM_047449019.1:c.183_184del, NM_001320600.1:c.243_244del, XP_011511511.1:p.Asn82fs, NP_077817.2:p.Asn82fs, XP_016862763.1:p.Asn62fs, NP_001307527.1:p.Asn82fs, XP_024309548.1:p.Asn82fs, NP_001275893.1:p.Asn64fs, XP_016862760.1:p.Asn82fs, NP_001275894.1:p.Asn62fs, XP_016862762.1:p.Asn62fs, XP_024309549.1:p.Asn82fs, NP_001307528.1:p.Asn82fs, NP_001275895.1:p.Asn82fs, XP_047304973.1:p.Asn82fs, XP_047304976.1:p.Asn62fs, XP_047304975.1:p.Asn62fs, NP_001307529.1:p.Asn82fs

              7.

              rs1482009964 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:138537257 (GRCh38)
                3:138256099 (GRCh37)
                Canonical SPDI:
                NC_000003.12:138537256:C:T
                Gene:
                CEP70 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                NC_000003.12:g.138537257C>T, NC_000003.11:g.138256099C>T, XM_011513209.4:c.556G>A, XM_011513209.3:c.556G>A, XM_011513209.2:c.556G>A, XM_011513209.1:c.556G>A, NM_024491.4:c.556G>A, NM_024491.3:c.556G>A, NM_024491.2:c.556G>A, XM_017007276.3:c.202G>A, XM_017007276.2:c.202G>A, XM_017007276.1:c.202G>A, XM_017007274.2:c.496G>A, XM_017007274.1:c.496G>A, NM_001320598.2:c.556G>A, NM_001320598.1:c.556G>A, XM_024453780.2:c.556G>A, XM_024453780.1:c.556G>A, NM_001288964.2:c.502G>A, NM_001288964.1:c.502G>A, XM_017007271.2:c.556G>A, XM_017007271.1:c.556G>A, NM_001288965.2:c.496G>A, NM_001288965.1:c.496G>A, XM_017007273.2:c.496G>A, XM_017007273.1:c.496G>A, XM_024453781.2:c.556G>A, XM_024453781.1:c.556G>A, NM_001320599.2:c.556G>A, NM_001320599.1:c.556G>A, NM_001288967.2:c.100G>A, NM_001288967.1:c.100G>A, XM_017007277.2:c.100G>A, XM_017007277.1:c.100G>A, NM_001288966.2:c.556G>A, NM_001288966.1:c.556G>A, XM_047449017.1:c.556G>A, XM_047449020.1:c.496G>A, XM_047449023.1:c.100G>A, XM_047449019.1:c.496G>A, XM_047449021.1:c.28G>A, XM_047449022.1:c.100G>A, NM_001320600.1:c.556G>A, XP_011511511.1:p.Glu186Lys, NP_077817.2:p.Glu186Lys, XP_016862765.1:p.Glu68Lys, XP_016862763.1:p.Glu166Lys, NP_001307527.1:p.Glu186Lys, XP_024309548.1:p.Glu186Lys, NP_001275893.1:p.Glu168Lys, XP_016862760.1:p.Glu186Lys, NP_001275894.1:p.Glu166Lys, XP_016862762.1:p.Glu166Lys, XP_024309549.1:p.Glu186Lys, NP_001307528.1:p.Glu186Lys, NP_001275896.1:p.Glu34Lys, XP_016862766.1:p.Glu34Lys, NP_001275895.1:p.Glu186Lys, XP_047304973.1:p.Glu186Lys, XP_047304976.1:p.Glu166Lys, XP_047304979.1:p.Glu34Lys, XP_047304975.1:p.Glu166Lys, XP_047304977.1:p.Glu10Lys, XP_047304978.1:p.Glu34Lys, NP_001307529.1:p.Glu186Lys

                8.

                rs1481953083 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:138572859 (GRCh38)
                  3:138291701 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:138572858:C:T
                  Gene:
                  CEP70 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1478565206 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:138570498 (GRCh38)
                    3:138289340 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:138570497:T:C
                    Gene:
                    CEP70 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.138570498T>C, NC_000003.11:g.138289340T>C, XM_011513209.4:c.285A>G, XM_011513209.3:c.285A>G, XM_011513209.2:c.285A>G, XM_011513209.1:c.285A>G, NM_024491.4:c.285A>G, NM_024491.3:c.285A>G, NM_024491.2:c.285A>G, XM_017007276.3:c.-70A>G, XM_017007276.2:c.-70A>G, XM_017007276.1:c.-70A>G, XM_017007274.2:c.225A>G, XM_017007274.1:c.225A>G, NM_001320598.2:c.285A>G, NM_001320598.1:c.285A>G, XM_024453780.2:c.285A>G, XM_024453780.1:c.285A>G, NM_001288964.2:c.231A>G, NM_001288964.1:c.231A>G, XM_017007271.2:c.285A>G, XM_017007271.1:c.285A>G, NM_001288965.2:c.225A>G, NM_001288965.1:c.225A>G, XM_017007273.2:c.225A>G, XM_017007273.1:c.225A>G, XM_024453781.2:c.285A>G, XM_024453781.1:c.285A>G, NM_001320599.2:c.285A>G, NM_001320599.1:c.285A>G, NM_001288966.2:c.285A>G, NM_001288966.1:c.285A>G, XM_047449017.1:c.285A>G, XM_047449020.1:c.225A>G, XM_047449019.1:c.225A>G, NM_001320600.1:c.285A>G

                    10.

                    rs1478461043 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:138500484 (GRCh38)
                      3:138219326 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:138500483:T:C
                      Gene:
                      CEP70 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.138500484T>C, NC_000003.11:g.138219326T>C, NM_024491.4:c.1452A>G, NM_024491.3:c.1452A>G, NM_024491.2:c.1452A>G, XM_017007281.3:c.675A>G, XM_017007281.2:c.675A>G, XM_017007281.1:c.675A>G, XM_017007276.3:c.1098A>G, XM_017007276.2:c.1098A>G, XM_017007276.1:c.1098A>G, XM_017007274.2:c.1392A>G, XM_017007274.1:c.1392A>G, NM_001320598.2:c.1452A>G, NM_001320598.1:c.1452A>G, XM_024453780.2:c.1452A>G, XM_024453780.1:c.1452A>G, NM_001288964.2:c.1398A>G, NM_001288964.1:c.1398A>G, XM_017007271.2:c.1452A>G, XM_017007271.1:c.1452A>G, NM_001288965.2:c.1392A>G, NM_001288965.1:c.1392A>G, XM_017007273.2:c.1392A>G, XM_017007273.1:c.1392A>G, XM_024453781.2:c.1452A>G, XM_024453781.1:c.1452A>G, NM_001320599.2:c.1452A>G, NM_001320599.1:c.1452A>G, NM_001288967.2:c.996A>G, NM_001288967.1:c.996A>G, XM_017007277.2:c.996A>G, XM_017007277.1:c.996A>G, NM_001288966.2:c.1452A>G, NM_001288966.1:c.1452A>G, XM_047449017.1:c.1452A>G, XM_047449020.1:c.1392A>G, XM_047449023.1:c.996A>G, XM_047449019.1:c.1392A>G, XM_047449021.1:c.924A>G, XM_047449022.1:c.996A>G, XM_047449025.1:c.675A>G, XM_047449024.1:c.774A>G

                      11.

                      rs1475650700 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        3:138500528 (GRCh38)
                        3:138219370 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:138500527:C:A,NC_000003.12:138500527:C:T
                        Gene:
                        CEP70 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000003.12:g.138500528C>A, NC_000003.12:g.138500528C>T, NC_000003.11:g.138219370C>A, NC_000003.11:g.138219370C>T, NM_024491.4:c.1408G>T, NM_024491.4:c.1408G>A, NM_024491.3:c.1408G>T, NM_024491.3:c.1408G>A, NM_024491.2:c.1408G>T, NM_024491.2:c.1408G>A, XM_017007281.3:c.631G>T, XM_017007281.3:c.631G>A, XM_017007281.2:c.631G>T, XM_017007281.2:c.631G>A, XM_017007281.1:c.631G>T, XM_017007281.1:c.631G>A, XM_017007276.3:c.1054G>T, XM_017007276.3:c.1054G>A, XM_017007276.2:c.1054G>T, XM_017007276.2:c.1054G>A, XM_017007276.1:c.1054G>T, XM_017007276.1:c.1054G>A, XM_017007274.2:c.1348G>T, XM_017007274.2:c.1348G>A, XM_017007274.1:c.1348G>T, XM_017007274.1:c.1348G>A, NM_001320598.2:c.1408G>T, NM_001320598.2:c.1408G>A, NM_001320598.1:c.1408G>T, NM_001320598.1:c.1408G>A, XM_024453780.2:c.1408G>T, XM_024453780.2:c.1408G>A, XM_024453780.1:c.1408G>T, XM_024453780.1:c.1408G>A, NM_001288964.2:c.1354G>T, NM_001288964.2:c.1354G>A, NM_001288964.1:c.1354G>T, NM_001288964.1:c.1354G>A, XM_017007271.2:c.1408G>T, XM_017007271.2:c.1408G>A, XM_017007271.1:c.1408G>T, XM_017007271.1:c.1408G>A, NM_001288965.2:c.1348G>T, NM_001288965.2:c.1348G>A, NM_001288965.1:c.1348G>T, NM_001288965.1:c.1348G>A, XM_017007273.2:c.1348G>T, XM_017007273.2:c.1348G>A, XM_017007273.1:c.1348G>T, XM_017007273.1:c.1348G>A, XM_024453781.2:c.1408G>T, XM_024453781.2:c.1408G>A, XM_024453781.1:c.1408G>T, XM_024453781.1:c.1408G>A, NM_001320599.2:c.1408G>T, NM_001320599.2:c.1408G>A, NM_001320599.1:c.1408G>T, NM_001320599.1:c.1408G>A, NM_001288967.2:c.952G>T, NM_001288967.2:c.952G>A, NM_001288967.1:c.952G>T, NM_001288967.1:c.952G>A, XM_017007277.2:c.952G>T, XM_017007277.2:c.952G>A, XM_017007277.1:c.952G>T, XM_017007277.1:c.952G>A, NM_001288966.2:c.1408G>T, NM_001288966.2:c.1408G>A, NM_001288966.1:c.1408G>T, NM_001288966.1:c.1408G>A, XM_047449017.1:c.1408G>T, XM_047449017.1:c.1408G>A, XM_047449020.1:c.1348G>T, XM_047449020.1:c.1348G>A, XM_047449023.1:c.952G>T, XM_047449023.1:c.952G>A, XM_047449019.1:c.1348G>T, XM_047449019.1:c.1348G>A, XM_047449021.1:c.880G>T, XM_047449021.1:c.880G>A, XM_047449022.1:c.952G>T, XM_047449022.1:c.952G>A, XM_047449025.1:c.631G>T, XM_047449025.1:c.631G>A, XM_047449024.1:c.730G>T, XM_047449024.1:c.730G>A, NP_077817.2:p.Val470Phe, NP_077817.2:p.Val470Ile, XP_016862770.1:p.Val211Phe, XP_016862770.1:p.Val211Ile, XP_016862765.1:p.Val352Phe, XP_016862765.1:p.Val352Ile, XP_016862763.1:p.Val450Phe, XP_016862763.1:p.Val450Ile, NP_001307527.1:p.Val470Phe, NP_001307527.1:p.Val470Ile, XP_024309548.1:p.Val470Phe, XP_024309548.1:p.Val470Ile, NP_001275893.1:p.Val452Phe, NP_001275893.1:p.Val452Ile, XP_016862760.1:p.Val470Phe, XP_016862760.1:p.Val470Ile, NP_001275894.1:p.Val450Phe, NP_001275894.1:p.Val450Ile, XP_016862762.1:p.Val450Phe, XP_016862762.1:p.Val450Ile, XP_024309549.1:p.Val470Phe, XP_024309549.1:p.Val470Ile, NP_001307528.1:p.Val470Phe, NP_001307528.1:p.Val470Ile, NP_001275896.1:p.Val318Phe, NP_001275896.1:p.Val318Ile, XP_016862766.1:p.Val318Phe, XP_016862766.1:p.Val318Ile, NP_001275895.1:p.Val470Phe, NP_001275895.1:p.Val470Ile, XP_047304973.1:p.Val470Phe, XP_047304973.1:p.Val470Ile, XP_047304976.1:p.Val450Phe, XP_047304976.1:p.Val450Ile, XP_047304979.1:p.Val318Phe, XP_047304979.1:p.Val318Ile, XP_047304975.1:p.Val450Phe, XP_047304975.1:p.Val450Ile, XP_047304977.1:p.Val294Phe, XP_047304977.1:p.Val294Ile, XP_047304978.1:p.Val318Phe, XP_047304978.1:p.Val318Ile, XP_047304981.1:p.Val211Phe, XP_047304981.1:p.Val211Ile, XP_047304980.1:p.Val244Phe, XP_047304980.1:p.Val244Ile

                        12.

                        rs1473057687 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:138570324 (GRCh38)
                          3:138289166 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:138570323:A:G
                          Gene:
                          CEP70 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.138570324A>G, NC_000003.11:g.138289166A>G, XM_011513209.4:c.459T>C, XM_011513209.3:c.459T>C, XM_011513209.2:c.459T>C, XM_011513209.1:c.459T>C, NM_024491.4:c.459T>C, NM_024491.3:c.459T>C, NM_024491.2:c.459T>C, XM_017007276.3:c.105T>C, XM_017007276.2:c.105T>C, XM_017007276.1:c.105T>C, XM_017007274.2:c.399T>C, XM_017007274.1:c.399T>C, NM_001320598.2:c.459T>C, NM_001320598.1:c.459T>C, XM_024453780.2:c.459T>C, XM_024453780.1:c.459T>C, NM_001288964.2:c.405T>C, NM_001288964.1:c.405T>C, XM_017007271.2:c.459T>C, XM_017007271.1:c.459T>C, NM_001288965.2:c.399T>C, NM_001288965.1:c.399T>C, XM_017007273.2:c.399T>C, XM_017007273.1:c.399T>C, XM_024453781.2:c.459T>C, XM_024453781.1:c.459T>C, NM_001320599.2:c.459T>C, NM_001320599.1:c.459T>C, NM_001288966.2:c.459T>C, NM_001288966.1:c.459T>C, XM_047449017.1:c.459T>C, XM_047449020.1:c.399T>C, XM_047449019.1:c.399T>C, XM_047449021.1:c.-169T>C, XM_047449025.1:c.-149T>C, NM_001320600.1:c.459T>C

                          13.

                          rs1471370273 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:138529443 (GRCh38)
                            3:138248285 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:138529442:T:C
                            Gene:
                            CEP70 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.138529443T>C, NC_000003.11:g.138248285T>C, XM_011513209.4:c.712A>G, XM_011513209.3:c.712A>G, XM_011513209.2:c.712A>G, XM_011513209.1:c.712A>G, NM_024491.4:c.712A>G, NM_024491.3:c.712A>G, NM_024491.2:c.712A>G, XM_017007281.3:c.-66A>G, XM_017007281.2:c.-66A>G, XM_017007281.1:c.-66A>G, XM_017007276.3:c.358A>G, XM_017007276.2:c.358A>G, XM_017007276.1:c.358A>G, XM_017007274.2:c.652A>G, XM_017007274.1:c.652A>G, NM_001320598.2:c.712A>G, NM_001320598.1:c.712A>G, XM_024453780.2:c.712A>G, XM_024453780.1:c.712A>G, NM_001288964.2:c.658A>G, NM_001288964.1:c.658A>G, XM_017007271.2:c.712A>G, XM_017007271.1:c.712A>G, NM_001288965.2:c.652A>G, NM_001288965.1:c.652A>G, XM_017007273.2:c.652A>G, XM_017007273.1:c.652A>G, XM_024453781.2:c.712A>G, XM_024453781.1:c.712A>G, NM_001320599.2:c.712A>G, NM_001320599.1:c.712A>G, NM_001288967.2:c.256A>G, NM_001288967.1:c.256A>G, XM_017007277.2:c.256A>G, XM_017007277.1:c.256A>G, NM_001288966.2:c.712A>G, NM_001288966.1:c.712A>G, XM_047449017.1:c.712A>G, XM_047449020.1:c.652A>G, XM_047449023.1:c.256A>G, XM_047449019.1:c.652A>G, XM_047449021.1:c.184A>G, XM_047449022.1:c.256A>G, XM_047449025.1:c.-66A>G, XM_047449024.1:c.34A>G, XP_011511511.1:p.Ser238Gly, NP_077817.2:p.Ser238Gly, XP_016862765.1:p.Ser120Gly, XP_016862763.1:p.Ser218Gly, NP_001307527.1:p.Ser238Gly, XP_024309548.1:p.Ser238Gly, NP_001275893.1:p.Ser220Gly, XP_016862760.1:p.Ser238Gly, NP_001275894.1:p.Ser218Gly, XP_016862762.1:p.Ser218Gly, XP_024309549.1:p.Ser238Gly, NP_001307528.1:p.Ser238Gly, NP_001275896.1:p.Ser86Gly, XP_016862766.1:p.Ser86Gly, NP_001275895.1:p.Ser238Gly, XP_047304973.1:p.Ser238Gly, XP_047304976.1:p.Ser218Gly, XP_047304979.1:p.Ser86Gly, XP_047304975.1:p.Ser218Gly, XP_047304977.1:p.Ser62Gly, XP_047304978.1:p.Ser86Gly, XP_047304980.1:p.Ser12Gly

                            14.

                            rs1471257570 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:138505385 (GRCh38)
                              3:138224227 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:138505384:T:C
                              Gene:
                              CEP70 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000003.12:g.138505385T>C, NC_000003.11:g.138224227T>C, XM_011513209.4:c.1131A>G, XM_011513209.3:c.1131A>G, XM_011513209.2:c.1131A>G, XM_011513209.1:c.1131A>G, NM_024491.4:c.1131A>G, NM_024491.3:c.1131A>G, NM_024491.2:c.1131A>G, XM_017007281.3:c.354A>G, XM_017007281.2:c.354A>G, XM_017007281.1:c.354A>G, XM_017007276.3:c.777A>G, XM_017007276.2:c.777A>G, XM_017007276.1:c.777A>G, XM_017007274.2:c.1071A>G, XM_017007274.1:c.1071A>G, NM_001320598.2:c.1131A>G, NM_001320598.1:c.1131A>G, XM_024453780.2:c.1131A>G, XM_024453780.1:c.1131A>G, NM_001288964.2:c.1077A>G, NM_001288964.1:c.1077A>G, XM_017007271.2:c.1131A>G, XM_017007271.1:c.1131A>G, NM_001288965.2:c.1071A>G, NM_001288965.1:c.1071A>G, XM_017007273.2:c.1071A>G, XM_017007273.1:c.1071A>G, XM_024453781.2:c.1131A>G, XM_024453781.1:c.1131A>G, NM_001320599.2:c.1131A>G, NM_001320599.1:c.1131A>G, NM_001288967.2:c.675A>G, NM_001288967.1:c.675A>G, XM_017007277.2:c.675A>G, XM_017007277.1:c.675A>G, NM_001288966.2:c.1131A>G, NM_001288966.1:c.1131A>G, XM_047449017.1:c.1131A>G, XM_047449020.1:c.1071A>G, XM_047449023.1:c.675A>G, XM_047449019.1:c.1071A>G, XM_047449021.1:c.603A>G, XM_047449022.1:c.675A>G, XM_047449025.1:c.354A>G, XM_047449024.1:c.453A>G

                              15.

                              rs1468255585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:138570483 (GRCh38)
                                3:138289325 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:138570482:T:C
                                Gene:
                                CEP70 (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000003.12:g.138570483T>C, NC_000003.11:g.138289325T>C, XM_011513209.4:c.300A>G, XM_011513209.3:c.300A>G, XM_011513209.2:c.300A>G, XM_011513209.1:c.300A>G, NM_024491.4:c.300A>G, NM_024491.3:c.300A>G, NM_024491.2:c.300A>G, XM_017007276.3:c.-55A>G, XM_017007276.2:c.-55A>G, XM_017007276.1:c.-55A>G, XM_017007274.2:c.240A>G, XM_017007274.1:c.240A>G, NM_001320598.2:c.300A>G, NM_001320598.1:c.300A>G, XM_024453780.2:c.300A>G, XM_024453780.1:c.300A>G, NM_001288964.2:c.246A>G, NM_001288964.1:c.246A>G, XM_017007271.2:c.300A>G, XM_017007271.1:c.300A>G, NM_001288965.2:c.240A>G, NM_001288965.1:c.240A>G, XM_017007273.2:c.240A>G, XM_017007273.1:c.240A>G, XM_024453781.2:c.300A>G, XM_024453781.1:c.300A>G, NM_001320599.2:c.300A>G, NM_001320599.1:c.300A>G, NM_001288966.2:c.300A>G, NM_001288966.1:c.300A>G, XM_047449017.1:c.300A>G, XM_047449020.1:c.240A>G, XM_047449019.1:c.240A>G, NM_001320600.1:c.300A>G

                                16.

                                rs1468133633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:138498054 (GRCh38)
                                  3:138216896 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:138498053:G:A
                                  Gene:
                                  CEP70 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.138498054G>A, NC_000003.11:g.138216896G>A, NM_024491.4:c.1709C>T, NM_024491.3:c.1709C>T, NM_024491.2:c.1709C>T, XM_017007281.3:c.932C>T, XM_017007281.2:c.932C>T, XM_017007281.1:c.932C>T, XM_017007276.3:c.1355C>T, XM_017007276.2:c.1355C>T, XM_017007276.1:c.1355C>T, XM_017007274.2:c.1649C>T, XM_017007274.1:c.1649C>T, NM_001320598.2:c.1709C>T, NM_001320598.1:c.1709C>T, XM_024453780.2:c.1709C>T, XM_024453780.1:c.1709C>T, NM_001288964.2:c.1655C>T, NM_001288964.1:c.1655C>T, XM_017007271.2:c.1709C>T, XM_017007271.1:c.1709C>T, NM_001288965.2:c.1649C>T, NM_001288965.1:c.1649C>T, XM_017007273.2:c.1649C>T, XM_017007273.1:c.1649C>T, XM_024453781.2:c.1709C>T, XM_024453781.1:c.1709C>T, NM_001320599.2:c.1709C>T, NM_001320599.1:c.1709C>T, NM_001288967.2:c.1253C>T, NM_001288967.1:c.1253C>T, XM_017007277.2:c.1253C>T, XM_017007277.1:c.1253C>T, XM_047449017.1:c.1709C>T, XM_047449020.1:c.1649C>T, XM_047449023.1:c.1253C>T, XM_047449019.1:c.1649C>T, XM_047449021.1:c.1181C>T, XM_047449022.1:c.1253C>T, XM_047449025.1:c.932C>T, XM_047449024.1:c.1031C>T, NP_077817.2:p.Thr570Ile, XP_016862770.1:p.Thr311Ile, XP_016862765.1:p.Thr452Ile, XP_016862763.1:p.Thr550Ile, NP_001307527.1:p.Thr570Ile, XP_024309548.1:p.Thr570Ile, NP_001275893.1:p.Thr552Ile, XP_016862760.1:p.Thr570Ile, NP_001275894.1:p.Thr550Ile, XP_016862762.1:p.Thr550Ile, XP_024309549.1:p.Thr570Ile, NP_001307528.1:p.Thr570Ile, NP_001275896.1:p.Thr418Ile, XP_016862766.1:p.Thr418Ile, XP_047304973.1:p.Thr570Ile, XP_047304976.1:p.Thr550Ile, XP_047304979.1:p.Thr418Ile, XP_047304975.1:p.Thr550Ile, XP_047304977.1:p.Thr394Ile, XP_047304978.1:p.Thr418Ile, XP_047304981.1:p.Thr311Ile, XP_047304980.1:p.Thr344Ile

                                  17.

                                  rs1467083232 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:138500830 (GRCh38)
                                    3:138219672 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:138500829:T:G
                                    Gene:
                                    CEP70 (Varview)
                                    Functional Consequence:
                                    missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.138500830T>G, NC_000003.11:g.138219672T>G, NM_024491.4:c.1273A>C, NM_024491.3:c.1273A>C, NM_024491.2:c.1273A>C, XM_017007281.3:c.496A>C, XM_017007281.2:c.496A>C, XM_017007281.1:c.496A>C, XM_017007276.3:c.919A>C, XM_017007276.2:c.919A>C, XM_017007276.1:c.919A>C, XM_017007274.2:c.1213A>C, XM_017007274.1:c.1213A>C, NM_001320598.2:c.1273A>C, NM_001320598.1:c.1273A>C, XM_024453780.2:c.1273A>C, XM_024453780.1:c.1273A>C, NM_001288964.2:c.1219A>C, NM_001288964.1:c.1219A>C, XM_017007271.2:c.1273A>C, XM_017007271.1:c.1273A>C, NM_001288965.2:c.1213A>C, NM_001288965.1:c.1213A>C, XM_017007273.2:c.1213A>C, XM_017007273.1:c.1213A>C, XM_024453781.2:c.1273A>C, XM_024453781.1:c.1273A>C, NM_001320599.2:c.1273A>C, NM_001320599.1:c.1273A>C, NM_001288967.2:c.817A>C, NM_001288967.1:c.817A>C, XM_017007277.2:c.817A>C, XM_017007277.1:c.817A>C, NM_001288966.2:c.1273A>C, NM_001288966.1:c.1273A>C, XM_047449017.1:c.1273A>C, XM_047449020.1:c.1213A>C, XM_047449023.1:c.817A>C, XM_047449019.1:c.1213A>C, XM_047449021.1:c.745A>C, XM_047449022.1:c.817A>C, XM_047449025.1:c.496A>C, XM_047449024.1:c.595A>C, NP_077817.2:p.Asn425His, XP_016862770.1:p.Asn166His, XP_016862765.1:p.Asn307His, XP_016862763.1:p.Asn405His, NP_001307527.1:p.Asn425His, XP_024309548.1:p.Asn425His, NP_001275893.1:p.Asn407His, XP_016862760.1:p.Asn425His, NP_001275894.1:p.Asn405His, XP_016862762.1:p.Asn405His, XP_024309549.1:p.Asn425His, NP_001307528.1:p.Asn425His, NP_001275896.1:p.Asn273His, XP_016862766.1:p.Asn273His, NP_001275895.1:p.Asn425His, XP_047304973.1:p.Asn425His, XP_047304976.1:p.Asn405His, XP_047304979.1:p.Asn273His, XP_047304975.1:p.Asn405His, XP_047304977.1:p.Asn249His, XP_047304978.1:p.Asn273His, XP_047304981.1:p.Asn166His, XP_047304980.1:p.Asn199His

                                    18.

                                    rs1466561860 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:138500418 (GRCh38)
                                      3:138219260 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:138500417:G:A
                                      Gene:
                                      CEP70 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.138500418G>A, NC_000003.11:g.138219260G>A, NM_024491.4:c.1518C>T, NM_024491.3:c.1518C>T, NM_024491.2:c.1518C>T, XM_017007281.3:c.741C>T, XM_017007281.2:c.741C>T, XM_017007281.1:c.741C>T, XM_017007276.3:c.1164C>T, XM_017007276.2:c.1164C>T, XM_017007276.1:c.1164C>T, XM_017007274.2:c.1458C>T, XM_017007274.1:c.1458C>T, NM_001320598.2:c.1518C>T, NM_001320598.1:c.1518C>T, XM_024453780.2:c.1518C>T, XM_024453780.1:c.1518C>T, NM_001288964.2:c.1464C>T, NM_001288964.1:c.1464C>T, XM_017007271.2:c.1518C>T, XM_017007271.1:c.1518C>T, NM_001288965.2:c.1458C>T, NM_001288965.1:c.1458C>T, XM_017007273.2:c.1458C>T, XM_017007273.1:c.1458C>T, XM_024453781.2:c.1518C>T, XM_024453781.1:c.1518C>T, NM_001320599.2:c.1518C>T, NM_001320599.1:c.1518C>T, NM_001288967.2:c.1062C>T, NM_001288967.1:c.1062C>T, XM_017007277.2:c.1062C>T, XM_017007277.1:c.1062C>T, NM_001288966.2:c.1518C>T, NM_001288966.1:c.1518C>T, XM_047449017.1:c.1518C>T, XM_047449020.1:c.1458C>T, XM_047449023.1:c.1062C>T, XM_047449019.1:c.1458C>T, XM_047449021.1:c.990C>T, XM_047449022.1:c.1062C>T, XM_047449025.1:c.741C>T, XM_047449024.1:c.840C>T

                                      19.

                                      rs1464905313 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:138529223 (GRCh38)
                                        3:138248065 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:138529222:T:G
                                        Gene:
                                        CEP70 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.138529223T>G, NC_000003.11:g.138248065T>G, XM_011513209.4:c.845A>C, XM_011513209.3:c.845A>C, XM_011513209.2:c.845A>C, XM_011513209.1:c.845A>C, NM_024491.4:c.845A>C, NM_024491.3:c.845A>C, NM_024491.2:c.845A>C, XM_017007281.3:c.68A>C, XM_017007281.2:c.68A>C, XM_017007281.1:c.68A>C, XM_017007276.3:c.491A>C, XM_017007276.2:c.491A>C, XM_017007276.1:c.491A>C, XM_017007274.2:c.785A>C, XM_017007274.1:c.785A>C, NM_001320598.2:c.845A>C, NM_001320598.1:c.845A>C, XM_024453780.2:c.845A>C, XM_024453780.1:c.845A>C, NM_001288964.2:c.791A>C, NM_001288964.1:c.791A>C, XM_017007271.2:c.845A>C, XM_017007271.1:c.845A>C, NM_001288965.2:c.785A>C, NM_001288965.1:c.785A>C, XM_017007273.2:c.785A>C, XM_017007273.1:c.785A>C, XM_024453781.2:c.845A>C, XM_024453781.1:c.845A>C, NM_001320599.2:c.845A>C, NM_001320599.1:c.845A>C, NM_001288967.2:c.389A>C, NM_001288967.1:c.389A>C, XM_017007277.2:c.389A>C, XM_017007277.1:c.389A>C, NM_001288966.2:c.845A>C, NM_001288966.1:c.845A>C, XM_047449017.1:c.845A>C, XM_047449020.1:c.785A>C, XM_047449023.1:c.389A>C, XM_047449019.1:c.785A>C, XM_047449021.1:c.317A>C, XM_047449022.1:c.389A>C, XM_047449025.1:c.68A>C, XM_047449024.1:c.167A>C, XP_011511511.1:p.Asn282Thr, NP_077817.2:p.Asn282Thr, XP_016862770.1:p.Asn23Thr, XP_016862765.1:p.Asn164Thr, XP_016862763.1:p.Asn262Thr, NP_001307527.1:p.Asn282Thr, XP_024309548.1:p.Asn282Thr, NP_001275893.1:p.Asn264Thr, XP_016862760.1:p.Asn282Thr, NP_001275894.1:p.Asn262Thr, XP_016862762.1:p.Asn262Thr, XP_024309549.1:p.Asn282Thr, NP_001307528.1:p.Asn282Thr, NP_001275896.1:p.Asn130Thr, XP_016862766.1:p.Asn130Thr, NP_001275895.1:p.Asn282Thr, XP_047304973.1:p.Asn282Thr, XP_047304976.1:p.Asn262Thr, XP_047304979.1:p.Asn130Thr, XP_047304975.1:p.Asn262Thr, XP_047304977.1:p.Asn106Thr, XP_047304978.1:p.Asn130Thr, XP_047304981.1:p.Asn23Thr, XP_047304980.1:p.Asn56Thr

                                        20.

                                        rs1460835180 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          3:138537302 (GRCh38)
                                          3:138256144 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:138537301:T:A,NC_000003.12:138537301:T:C
                                          Gene:
                                          CEP70 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.138537302T>A, NC_000003.12:g.138537302T>C, NC_000003.11:g.138256144T>A, NC_000003.11:g.138256144T>C, XM_011513209.4:c.511A>T, XM_011513209.4:c.511A>G, XM_011513209.3:c.511A>T, XM_011513209.3:c.511A>G, XM_011513209.2:c.511A>T, XM_011513209.2:c.511A>G, XM_011513209.1:c.511A>T, XM_011513209.1:c.511A>G, NM_024491.4:c.511A>T, NM_024491.4:c.511A>G, NM_024491.3:c.511A>T, NM_024491.3:c.511A>G, NM_024491.2:c.511A>T, NM_024491.2:c.511A>G, XM_017007276.3:c.157A>T, XM_017007276.3:c.157A>G, XM_017007276.2:c.157A>T, XM_017007276.2:c.157A>G, XM_017007276.1:c.157A>T, XM_017007276.1:c.157A>G, XM_017007274.2:c.451A>T, XM_017007274.2:c.451A>G, XM_017007274.1:c.451A>T, XM_017007274.1:c.451A>G, NM_001320598.2:c.511A>T, NM_001320598.2:c.511A>G, NM_001320598.1:c.511A>T, NM_001320598.1:c.511A>G, XM_024453780.2:c.511A>T, XM_024453780.2:c.511A>G, XM_024453780.1:c.511A>T, XM_024453780.1:c.511A>G, NM_001288964.2:c.457A>T, NM_001288964.2:c.457A>G, NM_001288964.1:c.457A>T, NM_001288964.1:c.457A>G, XM_017007271.2:c.511A>T, XM_017007271.2:c.511A>G, XM_017007271.1:c.511A>T, XM_017007271.1:c.511A>G, NM_001288965.2:c.451A>T, NM_001288965.2:c.451A>G, NM_001288965.1:c.451A>T, NM_001288965.1:c.451A>G, XM_017007273.2:c.451A>T, XM_017007273.2:c.451A>G, XM_017007273.1:c.451A>T, XM_017007273.1:c.451A>G, XM_024453781.2:c.511A>T, XM_024453781.2:c.511A>G, XM_024453781.1:c.511A>T, XM_024453781.1:c.511A>G, NM_001320599.2:c.511A>T, NM_001320599.2:c.511A>G, NM_001320599.1:c.511A>T, NM_001320599.1:c.511A>G, NM_001288967.2:c.55A>T, NM_001288967.2:c.55A>G, NM_001288967.1:c.55A>T, NM_001288967.1:c.55A>G, XM_017007277.2:c.55A>T, XM_017007277.2:c.55A>G, XM_017007277.1:c.55A>T, XM_017007277.1:c.55A>G, NM_001288966.2:c.511A>T, NM_001288966.2:c.511A>G, NM_001288966.1:c.511A>T, NM_001288966.1:c.511A>G, XM_047449017.1:c.511A>T, XM_047449017.1:c.511A>G, XM_047449020.1:c.451A>T, XM_047449020.1:c.451A>G, XM_047449023.1:c.55A>T, XM_047449023.1:c.55A>G, XM_047449019.1:c.451A>T, XM_047449019.1:c.451A>G, XM_047449021.1:c.-18A>T, XM_047449021.1:c.-18A>G, XM_047449022.1:c.55A>T, XM_047449022.1:c.55A>G, NM_001320600.1:c.511A>T, NM_001320600.1:c.511A>G, XP_011511511.1:p.Thr171Ser, XP_011511511.1:p.Thr171Ala, NP_077817.2:p.Thr171Ser, NP_077817.2:p.Thr171Ala, XP_016862765.1:p.Thr53Ser, XP_016862765.1:p.Thr53Ala, XP_016862763.1:p.Thr151Ser, XP_016862763.1:p.Thr151Ala, NP_001307527.1:p.Thr171Ser, NP_001307527.1:p.Thr171Ala, XP_024309548.1:p.Thr171Ser, XP_024309548.1:p.Thr171Ala, NP_001275893.1:p.Thr153Ser, NP_001275893.1:p.Thr153Ala, XP_016862760.1:p.Thr171Ser, XP_016862760.1:p.Thr171Ala, NP_001275894.1:p.Thr151Ser, NP_001275894.1:p.Thr151Ala, XP_016862762.1:p.Thr151Ser, XP_016862762.1:p.Thr151Ala, XP_024309549.1:p.Thr171Ser, XP_024309549.1:p.Thr171Ala, NP_001307528.1:p.Thr171Ser, NP_001307528.1:p.Thr171Ala, NP_001275896.1:p.Thr19Ser, NP_001275896.1:p.Thr19Ala, XP_016862766.1:p.Thr19Ser, XP_016862766.1:p.Thr19Ala, NP_001275895.1:p.Thr171Ser, NP_001275895.1:p.Thr171Ala, XP_047304973.1:p.Thr171Ser, XP_047304973.1:p.Thr171Ala, XP_047304976.1:p.Thr151Ser, XP_047304976.1:p.Thr151Ala, XP_047304979.1:p.Thr19Ser, XP_047304979.1:p.Thr19Ala, XP_047304975.1:p.Thr151Ser, XP_047304975.1:p.Thr151Ala, XP_047304978.1:p.Thr19Ser, XP_047304978.1:p.Thr19Ala, NP_001307529.1:p.Thr171Ser, NP_001307529.1:p.Thr171Ala

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