U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 633

1.

rs1489635449 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:27284637 (GRCh38)
    3:27326128 (GRCh37)
    Canonical SPDI:
    NC_000003.12:27284636:T:C
    Gene:
    NEK10 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.27284637T>C, NC_000003.11:g.27326128T>C, NM_152534.6:c.1979A>G, NM_152534.5:c.1979A>G, NM_152534.4:c.1979A>G, NM_152534.3:c.1979A>G, NM_152534.2:c.170A>G, XM_006713001.4:c.1979A>G, XM_006713001.3:c.1979A>G, XM_006713001.2:c.1979A>G, XM_006713001.1:c.1979A>G, XM_006712999.4:c.1979A>G, XM_006712999.3:c.1979A>G, XM_006712999.2:c.1979A>G, XM_006712999.1:c.1979A>G, NM_199347.4:c.1979A>G, NM_199347.3:c.1979A>G, NM_199347.2:c.1979A>G, XM_017005774.3:c.1979A>G, XM_017005774.2:c.1979A>G, XM_017005774.1:c.1979A>G, XM_017005762.3:c.1979A>G, XM_017005762.2:c.1979A>G, XM_017005762.1:c.1979A>G, XM_006712998.3:c.1979A>G, XM_006712998.2:c.1979A>G, XM_006712998.1:c.1979A>G, XM_011533414.3:c.1979A>G, XM_011533414.2:c.1979A>G, XM_011533414.1:c.1979A>G, XM_017005763.2:c.1979A>G, XM_017005763.1:c.1979A>G, XM_017005764.2:c.1979A>G, XM_017005764.1:c.1979A>G, XM_017005765.2:c.1979A>G, XM_017005765.1:c.1979A>G, XM_017005768.2:c.1841A>G, XM_017005768.1:c.1841A>G, XR_001740034.2:n.2215A>G, XR_001740034.1:n.2253A>G, XM_047447505.1:c.1979A>G, NM_001394970.1:c.1979A>G, NM_001394963.1:c.1979A>G, NM_001394964.1:c.1892A>G, NM_001394971.1:c.1979A>G, NM_001394965.1:c.1979A>G, NM_001394966.1:c.1979A>G, NM_001394967.1:c.1892A>G, XM_047447507.1:c.1841A>G, XM_047447506.1:c.1892A>G, NM_001394968.1:c.1862A>G, XM_047447508.1:c.1841A>G, XM_047447509.1:c.1979A>G, NM_001394969.1:c.1892A>G, XM_047447510.1:c.1979A>G, XM_047447511.1:c.1841A>G, XM_047447512.1:c.1754A>G, NP_689747.3:p.Asn660Ser, XP_006713064.1:p.Asn660Ser, XP_006713062.1:p.Asn660Ser, NP_955379.2:p.Asn660Ser, XP_016861263.1:p.Asn660Ser, XP_016861251.1:p.Asn660Ser, XP_006713061.1:p.Asn660Ser, XP_011531716.1:p.Asn660Ser, XP_016861252.1:p.Asn660Ser, XP_016861253.1:p.Asn660Ser, XP_016861254.1:p.Asn660Ser, XP_016861257.1:p.Asn614Ser, XP_047303461.1:p.Asn660Ser, NP_001381899.1:p.Asn660Ser, NP_001381892.1:p.Asn660Ser, NP_001381893.1:p.Asn631Ser, NP_001381900.1:p.Asn660Ser, NP_001381894.1:p.Asn660Ser, NP_001381895.1:p.Asn660Ser, NP_001381896.1:p.Asn631Ser, XP_047303463.1:p.Asn614Ser, XP_047303462.1:p.Asn631Ser, NP_001381897.1:p.Asn621Ser, XP_047303464.1:p.Asn614Ser, XP_047303465.1:p.Asn660Ser, NP_001381898.1:p.Asn631Ser, XP_047303466.1:p.Asn660Ser, XP_047303467.1:p.Asn614Ser, XP_047303468.1:p.Asn585Ser

    2.

    rs1489510158 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:27308969 (GRCh38)
      3:27350460 (GRCh37)
      Canonical SPDI:
      NC_000003.12:27308968:C:T
      Gene:
      NEK10 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000003.12:g.27308969C>T, NC_000003.11:g.27350460C>T, NM_152534.6:c.673G>A, NM_152534.5:c.673G>A, NM_152534.4:c.673G>A, NM_152534.3:c.673G>A, XM_006713001.4:c.673G>A, XM_006713001.3:c.673G>A, XM_006713001.2:c.673G>A, XM_006713001.1:c.673G>A, XM_006712999.4:c.673G>A, XM_006712999.3:c.673G>A, XM_006712999.2:c.673G>A, XM_006712999.1:c.673G>A, NM_199347.4:c.673G>A, NM_199347.3:c.673G>A, NM_199347.2:c.673G>A, XM_017005774.3:c.673G>A, XM_017005774.2:c.673G>A, XM_017005774.1:c.673G>A, XM_017005762.3:c.673G>A, XM_017005762.2:c.673G>A, XM_017005762.1:c.673G>A, XM_006712998.3:c.673G>A, XM_006712998.2:c.673G>A, XM_006712998.1:c.673G>A, XM_011533414.3:c.673G>A, XM_011533414.2:c.673G>A, XM_011533414.1:c.673G>A, XM_017005763.2:c.673G>A, XM_017005763.1:c.673G>A, XM_017005764.2:c.673G>A, XM_017005764.1:c.673G>A, XM_017005765.2:c.673G>A, XM_017005765.1:c.673G>A, XM_017005768.2:c.673G>A, XM_017005768.1:c.673G>A, XR_001740034.2:n.909G>A, XR_001740034.1:n.947G>A, XM_047447505.1:c.673G>A, NM_001394970.1:c.673G>A, NM_001394963.1:c.673G>A, NM_001394964.1:c.673G>A, NM_001394971.1:c.673G>A, NM_001394965.1:c.673G>A, NM_001394966.1:c.673G>A, NM_001394967.1:c.673G>A, XM_047447507.1:c.673G>A, XM_047447506.1:c.673G>A, NM_001394968.1:c.673G>A, XM_047447508.1:c.673G>A, XM_047447509.1:c.673G>A, NM_001394969.1:c.673G>A, XM_047447510.1:c.673G>A, XM_047447511.1:c.673G>A, XM_047447512.1:c.673G>A, NP_689747.3:p.Val225Ile, XP_006713064.1:p.Val225Ile, XP_006713062.1:p.Val225Ile, NP_955379.2:p.Val225Ile, XP_016861263.1:p.Val225Ile, XP_016861251.1:p.Val225Ile, XP_006713061.1:p.Val225Ile, XP_011531716.1:p.Val225Ile, XP_016861252.1:p.Val225Ile, XP_016861253.1:p.Val225Ile, XP_016861254.1:p.Val225Ile, XP_016861257.1:p.Val225Ile, XP_047303461.1:p.Val225Ile, NP_001381899.1:p.Val225Ile, NP_001381892.1:p.Val225Ile, NP_001381893.1:p.Val225Ile, NP_001381900.1:p.Val225Ile, NP_001381894.1:p.Val225Ile, NP_001381895.1:p.Val225Ile, NP_001381896.1:p.Val225Ile, XP_047303463.1:p.Val225Ile, XP_047303462.1:p.Val225Ile, NP_001381897.1:p.Val225Ile, XP_047303464.1:p.Val225Ile, XP_047303465.1:p.Val225Ile, NP_001381898.1:p.Val225Ile, XP_047303466.1:p.Val225Ile, XP_047303467.1:p.Val225Ile, XP_047303468.1:p.Val225Ile

      3.

      rs1486273531 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        3:27301700 (GRCh38)
        3:27343191 (GRCh37)
        Canonical SPDI:
        NC_000003.12:27301699:T:A
        Gene:
        NEK10 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000066/2 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000015/3 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.27301700T>A, NC_000003.11:g.27343191T>A, NM_152534.6:c.1164A>T, NM_152534.5:c.1164A>T, NM_152534.4:c.1164A>T, NM_152534.3:c.1164A>T, XM_006713001.4:c.1164A>T, XM_006713001.3:c.1164A>T, XM_006713001.2:c.1164A>T, XM_006713001.1:c.1164A>T, XM_006712999.4:c.1164A>T, XM_006712999.3:c.1164A>T, XM_006712999.2:c.1164A>T, XM_006712999.1:c.1164A>T, NM_199347.4:c.1164A>T, NM_199347.3:c.1164A>T, NM_199347.2:c.1164A>T, XM_017005774.3:c.1164A>T, XM_017005774.2:c.1164A>T, XM_017005774.1:c.1164A>T, XM_017005762.3:c.1164A>T, XM_017005762.2:c.1164A>T, XM_017005762.1:c.1164A>T, XM_006712998.3:c.1164A>T, XM_006712998.2:c.1164A>T, XM_006712998.1:c.1164A>T, XM_011533414.3:c.1164A>T, XM_011533414.2:c.1164A>T, XM_011533414.1:c.1164A>T, XM_017005763.2:c.1164A>T, XM_017005763.1:c.1164A>T, XM_017005764.2:c.1164A>T, XM_017005764.1:c.1164A>T, XM_017005765.2:c.1164A>T, XM_017005765.1:c.1164A>T, XM_017005768.2:c.1164A>T, XM_017005768.1:c.1164A>T, XR_001740034.2:n.1400A>T, XR_001740034.1:n.1438A>T, XM_047447505.1:c.1164A>T, NM_001394970.1:c.1164A>T, NM_001394963.1:c.1164A>T, NM_001394964.1:c.1077A>T, NM_001394971.1:c.1164A>T, NM_001394965.1:c.1164A>T, NM_001394966.1:c.1164A>T, NM_001394967.1:c.1077A>T, XM_047447507.1:c.1164A>T, XM_047447506.1:c.1077A>T, NM_001394968.1:c.1164A>T, XM_047447508.1:c.1164A>T, XM_047447509.1:c.1164A>T, NM_001394969.1:c.1077A>T, XM_047447510.1:c.1164A>T, XM_047447511.1:c.1164A>T, XM_047447512.1:c.1077A>T, NP_689747.3:p.Gln388His, XP_006713064.1:p.Gln388His, XP_006713062.1:p.Gln388His, NP_955379.2:p.Gln388His, XP_016861263.1:p.Gln388His, XP_016861251.1:p.Gln388His, XP_006713061.1:p.Gln388His, XP_011531716.1:p.Gln388His, XP_016861252.1:p.Gln388His, XP_016861253.1:p.Gln388His, XP_016861254.1:p.Gln388His, XP_016861257.1:p.Gln388His, XP_047303461.1:p.Gln388His, NP_001381899.1:p.Gln388His, NP_001381892.1:p.Gln388His, NP_001381893.1:p.Gln359His, NP_001381900.1:p.Gln388His, NP_001381894.1:p.Gln388His, NP_001381895.1:p.Gln388His, NP_001381896.1:p.Gln359His, XP_047303463.1:p.Gln388His, XP_047303462.1:p.Gln359His, NP_001381897.1:p.Gln388His, XP_047303464.1:p.Gln388His, XP_047303465.1:p.Gln388His, NP_001381898.1:p.Gln359His, XP_047303466.1:p.Gln388His, XP_047303467.1:p.Gln388His, XP_047303468.1:p.Gln359His

        4.

        rs1486203017 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:27291320 (GRCh38)
          3:27332811 (GRCh37)
          Canonical SPDI:
          NC_000003.12:27291319:A:G
          Gene:
          NEK10 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000111/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000003.12:g.27291320A>G, NC_000003.11:g.27332811A>G, NM_152534.6:c.1547T>C, NM_152534.5:c.1547T>C, NM_152534.4:c.1547T>C, NM_152534.3:c.1547T>C, NM_152534.2:c.-125T>C, XM_006713001.4:c.1547T>C, XM_006713001.3:c.1547T>C, XM_006713001.2:c.1547T>C, XM_006713001.1:c.1547T>C, XM_006712999.4:c.1547T>C, XM_006712999.3:c.1547T>C, XM_006712999.2:c.1547T>C, XM_006712999.1:c.1547T>C, NM_199347.4:c.1547T>C, NM_199347.3:c.1547T>C, NM_199347.2:c.1547T>C, XM_017005774.3:c.1547T>C, XM_017005774.2:c.1547T>C, XM_017005774.1:c.1547T>C, XM_017005762.3:c.1547T>C, XM_017005762.2:c.1547T>C, XM_017005762.1:c.1547T>C, XM_006712998.3:c.1547T>C, XM_006712998.2:c.1547T>C, XM_006712998.1:c.1547T>C, XM_011533414.3:c.1547T>C, XM_011533414.2:c.1547T>C, XM_011533414.1:c.1547T>C, XM_017005763.2:c.1547T>C, XM_017005763.1:c.1547T>C, XM_017005764.2:c.1547T>C, XM_017005764.1:c.1547T>C, XM_017005765.2:c.1547T>C, XM_017005765.1:c.1547T>C, XM_017005768.2:c.1547T>C, XM_017005768.1:c.1547T>C, XR_001740034.2:n.1783T>C, XR_001740034.1:n.1821T>C, XM_047447505.1:c.1547T>C, NM_001394970.1:c.1547T>C, NM_001394963.1:c.1547T>C, NM_001394964.1:c.1460T>C, NM_001394971.1:c.1547T>C, NM_001394965.1:c.1547T>C, NM_001394966.1:c.1547T>C, NM_001394967.1:c.1460T>C, XM_047447507.1:c.1547T>C, XM_047447506.1:c.1460T>C, NM_001394968.1:c.1568T>C, XM_047447508.1:c.1547T>C, XM_047447509.1:c.1547T>C, NM_001394969.1:c.1460T>C, XM_047447510.1:c.1547T>C, XM_047447511.1:c.1547T>C, XM_047447512.1:c.1460T>C, NP_689747.3:p.Ile516Thr, XP_006713064.1:p.Ile516Thr, XP_006713062.1:p.Ile516Thr, NP_955379.2:p.Ile516Thr, XP_016861263.1:p.Ile516Thr, XP_016861251.1:p.Ile516Thr, XP_006713061.1:p.Ile516Thr, XP_011531716.1:p.Ile516Thr, XP_016861252.1:p.Ile516Thr, XP_016861253.1:p.Ile516Thr, XP_016861254.1:p.Ile516Thr, XP_016861257.1:p.Ile516Thr, XP_047303461.1:p.Ile516Thr, NP_001381899.1:p.Ile516Thr, NP_001381892.1:p.Ile516Thr, NP_001381893.1:p.Ile487Thr, NP_001381900.1:p.Ile516Thr, NP_001381894.1:p.Ile516Thr, NP_001381895.1:p.Ile516Thr, NP_001381896.1:p.Ile487Thr, XP_047303463.1:p.Ile516Thr, XP_047303462.1:p.Ile487Thr, NP_001381897.1:p.Ile523Thr, XP_047303464.1:p.Ile516Thr, XP_047303465.1:p.Ile516Thr, NP_001381898.1:p.Ile487Thr, XP_047303466.1:p.Ile516Thr, XP_047303467.1:p.Ile516Thr, XP_047303468.1:p.Ile487Thr

          5.

          rs1482429859 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:27291580 (GRCh38)
            3:27333071 (GRCh37)
            Canonical SPDI:
            NC_000003.12:27291579:G:A
            Gene:
            NEK10 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000023/6 (TOPMED)
            A=0.000036/5 (GnomAD)
            HGVS:
            NC_000003.12:g.27291580G>A, NC_000003.11:g.27333071G>A, NM_152534.6:c.1380C>T, NM_152534.5:c.1380C>T, NM_152534.4:c.1380C>T, NM_152534.3:c.1380C>T, XM_006713001.4:c.1380C>T, XM_006713001.3:c.1380C>T, XM_006713001.2:c.1380C>T, XM_006713001.1:c.1380C>T, XM_006712999.4:c.1380C>T, XM_006712999.3:c.1380C>T, XM_006712999.2:c.1380C>T, XM_006712999.1:c.1380C>T, NM_199347.4:c.1380C>T, NM_199347.3:c.1380C>T, NM_199347.2:c.1380C>T, XM_017005774.3:c.1380C>T, XM_017005774.2:c.1380C>T, XM_017005774.1:c.1380C>T, XM_017005762.3:c.1380C>T, XM_017005762.2:c.1380C>T, XM_017005762.1:c.1380C>T, XM_006712998.3:c.1380C>T, XM_006712998.2:c.1380C>T, XM_006712998.1:c.1380C>T, XM_011533414.3:c.1380C>T, XM_011533414.2:c.1380C>T, XM_011533414.1:c.1380C>T, XM_017005763.2:c.1380C>T, XM_017005763.1:c.1380C>T, XM_017005764.2:c.1380C>T, XM_017005764.1:c.1380C>T, XM_017005765.2:c.1380C>T, XM_017005765.1:c.1380C>T, XM_017005768.2:c.1380C>T, XM_017005768.1:c.1380C>T, XR_001740034.2:n.1616C>T, XR_001740034.1:n.1654C>T, XM_047447505.1:c.1380C>T, NM_001394970.1:c.1380C>T, NM_001394963.1:c.1380C>T, NM_001394964.1:c.1293C>T, NM_001394971.1:c.1380C>T, NM_001394965.1:c.1380C>T, NM_001394966.1:c.1380C>T, NM_001394967.1:c.1293C>T, XM_047447507.1:c.1380C>T, XM_047447506.1:c.1293C>T, NM_001394968.1:c.1401C>T, XM_047447508.1:c.1380C>T, XM_047447509.1:c.1380C>T, NM_001394969.1:c.1293C>T, XM_047447510.1:c.1380C>T, XM_047447511.1:c.1380C>T, XM_047447512.1:c.1293C>T

            6.

            rs1482140320 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:27284883 (GRCh38)
              3:27326374 (GRCh37)
              Canonical SPDI:
              NC_000003.12:27284882:T:C
              Gene:
              NEK10 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_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=0.000008/2 (TOPMED)
              HGVS:
              NC_000003.12:g.27284883T>C, NC_000003.11:g.27326374T>C, NM_152534.6:c.1868A>G, NM_152534.5:c.1868A>G, NM_152534.4:c.1868A>G, NM_152534.3:c.1868A>G, NM_152534.2:c.59A>G, XM_006713001.4:c.1868A>G, XM_006713001.3:c.1868A>G, XM_006713001.2:c.1868A>G, XM_006713001.1:c.1868A>G, XM_006712999.4:c.1868A>G, XM_006712999.3:c.1868A>G, XM_006712999.2:c.1868A>G, XM_006712999.1:c.1868A>G, NM_199347.4:c.1868A>G, NM_199347.3:c.1868A>G, NM_199347.2:c.1868A>G, XM_017005774.3:c.1868A>G, XM_017005774.2:c.1868A>G, XM_017005774.1:c.1868A>G, XM_017005762.3:c.1868A>G, XM_017005762.2:c.1868A>G, XM_017005762.1:c.1868A>G, XM_006712998.3:c.1868A>G, XM_006712998.2:c.1868A>G, XM_006712998.1:c.1868A>G, XM_011533414.3:c.1868A>G, XM_011533414.2:c.1868A>G, XM_011533414.1:c.1868A>G, XM_017005763.2:c.1868A>G, XM_017005763.1:c.1868A>G, XM_017005764.2:c.1868A>G, XM_017005764.1:c.1868A>G, XM_017005765.2:c.1868A>G, XM_017005765.1:c.1868A>G, XM_017005768.2:c.1730A>G, XM_017005768.1:c.1730A>G, XR_001740034.2:n.2104A>G, XR_001740034.1:n.2142A>G, XM_047447505.1:c.1868A>G, NM_001394970.1:c.1868A>G, NM_001394963.1:c.1868A>G, NM_001394964.1:c.1781A>G, NM_001394971.1:c.1868A>G, NM_001394965.1:c.1868A>G, NM_001394966.1:c.1868A>G, NM_001394967.1:c.1781A>G, XM_047447507.1:c.1730A>G, XM_047447506.1:c.1781A>G, NM_001394968.1:c.1751A>G, XM_047447508.1:c.1730A>G, XM_047447509.1:c.1868A>G, NM_001394969.1:c.1781A>G, XM_047447510.1:c.1868A>G, XM_047447511.1:c.1730A>G, XM_047447512.1:c.1643A>G, NP_689747.3:p.His623Arg, XP_006713064.1:p.His623Arg, XP_006713062.1:p.His623Arg, NP_955379.2:p.His623Arg, XP_016861263.1:p.His623Arg, XP_016861251.1:p.His623Arg, XP_006713061.1:p.His623Arg, XP_011531716.1:p.His623Arg, XP_016861252.1:p.His623Arg, XP_016861253.1:p.His623Arg, XP_016861254.1:p.His623Arg, XP_016861257.1:p.His577Arg, XP_047303461.1:p.His623Arg, NP_001381899.1:p.His623Arg, NP_001381892.1:p.His623Arg, NP_001381893.1:p.His594Arg, NP_001381900.1:p.His623Arg, NP_001381894.1:p.His623Arg, NP_001381895.1:p.His623Arg, NP_001381896.1:p.His594Arg, XP_047303463.1:p.His577Arg, XP_047303462.1:p.His594Arg, NP_001381897.1:p.His584Arg, XP_047303464.1:p.His577Arg, XP_047303465.1:p.His623Arg, NP_001381898.1:p.His594Arg, XP_047303466.1:p.His623Arg, XP_047303467.1:p.His577Arg, XP_047303468.1:p.His548Arg

              7.

              rs1481534168 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:27291490 (GRCh38)
                3:27332981 (GRCh37)
                Canonical SPDI:
                NC_000003.12:27291489:T:C
                Gene:
                NEK10 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.27291490T>C, NC_000003.11:g.27332981T>C, NM_152534.6:c.1470A>G, NM_152534.5:c.1470A>G, NM_152534.4:c.1470A>G, NM_152534.3:c.1470A>G, NM_152534.2:c.-202A>G, XM_006713001.4:c.1470A>G, XM_006713001.3:c.1470A>G, XM_006713001.2:c.1470A>G, XM_006713001.1:c.1470A>G, XM_006712999.4:c.1470A>G, XM_006712999.3:c.1470A>G, XM_006712999.2:c.1470A>G, XM_006712999.1:c.1470A>G, NM_199347.4:c.1470A>G, NM_199347.3:c.1470A>G, NM_199347.2:c.1470A>G, XM_017005774.3:c.1470A>G, XM_017005774.2:c.1470A>G, XM_017005774.1:c.1470A>G, XM_017005762.3:c.1470A>G, XM_017005762.2:c.1470A>G, XM_017005762.1:c.1470A>G, XM_006712998.3:c.1470A>G, XM_006712998.2:c.1470A>G, XM_006712998.1:c.1470A>G, XM_011533414.3:c.1470A>G, XM_011533414.2:c.1470A>G, XM_011533414.1:c.1470A>G, XM_017005763.2:c.1470A>G, XM_017005763.1:c.1470A>G, XM_017005764.2:c.1470A>G, XM_017005764.1:c.1470A>G, XM_017005765.2:c.1470A>G, XM_017005765.1:c.1470A>G, XM_017005768.2:c.1470A>G, XM_017005768.1:c.1470A>G, XR_001740034.2:n.1706A>G, XR_001740034.1:n.1744A>G, XM_047447505.1:c.1470A>G, NM_001394970.1:c.1470A>G, NM_001394963.1:c.1470A>G, NM_001394964.1:c.1383A>G, NM_001394971.1:c.1470A>G, NM_001394965.1:c.1470A>G, NM_001394966.1:c.1470A>G, NM_001394967.1:c.1383A>G, XM_047447507.1:c.1470A>G, XM_047447506.1:c.1383A>G, NM_001394968.1:c.1491A>G, XM_047447508.1:c.1470A>G, XM_047447509.1:c.1470A>G, NM_001394969.1:c.1383A>G, XM_047447510.1:c.1470A>G, XM_047447511.1:c.1470A>G, XM_047447512.1:c.1383A>G

                8.

                rs1481400001 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  3:27304747 (GRCh38)
                  3:27346238 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:27304746:C:A,NC_000003.12:27304746:C:G
                  Gene:
                  NEK10 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.27304747C>A, NC_000003.12:g.27304747C>G, NC_000003.11:g.27346238C>A, NC_000003.11:g.27346238C>G, NM_152534.6:c.1028G>T, NM_152534.6:c.1028G>C, NM_152534.5:c.1028G>T, NM_152534.5:c.1028G>C, NM_152534.4:c.1028G>T, NM_152534.4:c.1028G>C, NM_152534.3:c.1028G>T, NM_152534.3:c.1028G>C, XM_006713001.4:c.1028G>T, XM_006713001.4:c.1028G>C, XM_006713001.3:c.1028G>T, XM_006713001.3:c.1028G>C, XM_006713001.2:c.1028G>T, XM_006713001.2:c.1028G>C, XM_006713001.1:c.1028G>T, XM_006713001.1:c.1028G>C, XM_006712999.4:c.1028G>T, XM_006712999.4:c.1028G>C, XM_006712999.3:c.1028G>T, XM_006712999.3:c.1028G>C, XM_006712999.2:c.1028G>T, XM_006712999.2:c.1028G>C, XM_006712999.1:c.1028G>T, XM_006712999.1:c.1028G>C, NM_199347.4:c.1028G>T, NM_199347.4:c.1028G>C, NM_199347.3:c.1028G>T, NM_199347.3:c.1028G>C, NM_199347.2:c.1028G>T, NM_199347.2:c.1028G>C, XM_017005774.3:c.1028G>T, XM_017005774.3:c.1028G>C, XM_017005774.2:c.1028G>T, XM_017005774.2:c.1028G>C, XM_017005774.1:c.1028G>T, XM_017005774.1:c.1028G>C, XM_017005762.3:c.1028G>T, XM_017005762.3:c.1028G>C, XM_017005762.2:c.1028G>T, XM_017005762.2:c.1028G>C, XM_017005762.1:c.1028G>T, XM_017005762.1:c.1028G>C, XM_006712998.3:c.1028G>T, XM_006712998.3:c.1028G>C, XM_006712998.2:c.1028G>T, XM_006712998.2:c.1028G>C, XM_006712998.1:c.1028G>T, XM_006712998.1:c.1028G>C, XM_011533414.3:c.1028G>T, XM_011533414.3:c.1028G>C, XM_011533414.2:c.1028G>T, XM_011533414.2:c.1028G>C, XM_011533414.1:c.1028G>T, XM_011533414.1:c.1028G>C, XM_017005763.2:c.1028G>T, XM_017005763.2:c.1028G>C, XM_017005763.1:c.1028G>T, XM_017005763.1:c.1028G>C, XM_017005764.2:c.1028G>T, XM_017005764.2:c.1028G>C, XM_017005764.1:c.1028G>T, XM_017005764.1:c.1028G>C, XM_017005765.2:c.1028G>T, XM_017005765.2:c.1028G>C, XM_017005765.1:c.1028G>T, XM_017005765.1:c.1028G>C, XM_017005768.2:c.1028G>T, XM_017005768.2:c.1028G>C, XM_017005768.1:c.1028G>T, XM_017005768.1:c.1028G>C, XR_001740034.2:n.1264G>T, XR_001740034.2:n.1264G>C, XR_001740034.1:n.1302G>T, XR_001740034.1:n.1302G>C, XM_047447505.1:c.1028G>T, XM_047447505.1:c.1028G>C, NM_001394970.1:c.1028G>T, NM_001394970.1:c.1028G>C, NM_001394963.1:c.1028G>T, NM_001394963.1:c.1028G>C, NM_001394964.1:c.941G>T, NM_001394964.1:c.941G>C, NM_001394971.1:c.1028G>T, NM_001394971.1:c.1028G>C, NM_001394965.1:c.1028G>T, NM_001394965.1:c.1028G>C, NM_001394966.1:c.1028G>T, NM_001394966.1:c.1028G>C, NM_001394967.1:c.941G>T, NM_001394967.1:c.941G>C, XM_047447507.1:c.1028G>T, XM_047447507.1:c.1028G>C, XM_047447506.1:c.941G>T, XM_047447506.1:c.941G>C, NM_001394968.1:c.1028G>T, NM_001394968.1:c.1028G>C, XM_047447508.1:c.1028G>T, XM_047447508.1:c.1028G>C, XM_047447509.1:c.1028G>T, XM_047447509.1:c.1028G>C, NM_001394969.1:c.941G>T, NM_001394969.1:c.941G>C, XM_047447510.1:c.1028G>T, XM_047447510.1:c.1028G>C, XM_047447511.1:c.1028G>T, XM_047447511.1:c.1028G>C, XM_047447512.1:c.941G>T, XM_047447512.1:c.941G>C, NP_689747.3:p.Gly343Val, NP_689747.3:p.Gly343Ala, XP_006713064.1:p.Gly343Val, XP_006713064.1:p.Gly343Ala, XP_006713062.1:p.Gly343Val, XP_006713062.1:p.Gly343Ala, NP_955379.2:p.Gly343Val, NP_955379.2:p.Gly343Ala, XP_016861263.1:p.Gly343Val, XP_016861263.1:p.Gly343Ala, XP_016861251.1:p.Gly343Val, XP_016861251.1:p.Gly343Ala, XP_006713061.1:p.Gly343Val, XP_006713061.1:p.Gly343Ala, XP_011531716.1:p.Gly343Val, XP_011531716.1:p.Gly343Ala, XP_016861252.1:p.Gly343Val, XP_016861252.1:p.Gly343Ala, XP_016861253.1:p.Gly343Val, XP_016861253.1:p.Gly343Ala, XP_016861254.1:p.Gly343Val, XP_016861254.1:p.Gly343Ala, XP_016861257.1:p.Gly343Val, XP_016861257.1:p.Gly343Ala, XP_047303461.1:p.Gly343Val, XP_047303461.1:p.Gly343Ala, NP_001381899.1:p.Gly343Val, NP_001381899.1:p.Gly343Ala, NP_001381892.1:p.Gly343Val, NP_001381892.1:p.Gly343Ala, NP_001381893.1:p.Gly314Val, NP_001381893.1:p.Gly314Ala, NP_001381900.1:p.Gly343Val, NP_001381900.1:p.Gly343Ala, NP_001381894.1:p.Gly343Val, NP_001381894.1:p.Gly343Ala, NP_001381895.1:p.Gly343Val, NP_001381895.1:p.Gly343Ala, NP_001381896.1:p.Gly314Val, NP_001381896.1:p.Gly314Ala, XP_047303463.1:p.Gly343Val, XP_047303463.1:p.Gly343Ala, XP_047303462.1:p.Gly314Val, XP_047303462.1:p.Gly314Ala, NP_001381897.1:p.Gly343Val, NP_001381897.1:p.Gly343Ala, XP_047303464.1:p.Gly343Val, XP_047303464.1:p.Gly343Ala, XP_047303465.1:p.Gly343Val, XP_047303465.1:p.Gly343Ala, NP_001381898.1:p.Gly314Val, NP_001381898.1:p.Gly314Ala, XP_047303466.1:p.Gly343Val, XP_047303466.1:p.Gly343Ala, XP_047303467.1:p.Gly343Val, XP_047303467.1:p.Gly343Ala, XP_047303468.1:p.Gly314Val, XP_047303468.1:p.Gly314Ala

                  9.

                  rs1478343652 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    3:27295682 (GRCh38)
                    3:27337173 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:27295681:A:C
                    Gene:
                    NEK10 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.27295682A>C, NC_000003.11:g.27337173A>C, NM_152534.6:c.1239T>G, NM_152534.5:c.1239T>G, NM_152534.4:c.1239T>G, NM_152534.3:c.1239T>G, XM_006713001.4:c.1239T>G, XM_006713001.3:c.1239T>G, XM_006713001.2:c.1239T>G, XM_006713001.1:c.1239T>G, XM_006712999.4:c.1239T>G, XM_006712999.3:c.1239T>G, XM_006712999.2:c.1239T>G, XM_006712999.1:c.1239T>G, NM_199347.4:c.1239T>G, NM_199347.3:c.1239T>G, NM_199347.2:c.1239T>G, XM_017005774.3:c.1239T>G, XM_017005774.2:c.1239T>G, XM_017005774.1:c.1239T>G, XM_017005762.3:c.1239T>G, XM_017005762.2:c.1239T>G, XM_017005762.1:c.1239T>G, XM_006712998.3:c.1239T>G, XM_006712998.2:c.1239T>G, XM_006712998.1:c.1239T>G, XM_011533414.3:c.1239T>G, XM_011533414.2:c.1239T>G, XM_011533414.1:c.1239T>G, XM_017005763.2:c.1239T>G, XM_017005763.1:c.1239T>G, XM_017005764.2:c.1239T>G, XM_017005764.1:c.1239T>G, XM_017005765.2:c.1239T>G, XM_017005765.1:c.1239T>G, XM_017005768.2:c.1239T>G, XM_017005768.1:c.1239T>G, XR_001740034.2:n.1475T>G, XR_001740034.1:n.1513T>G, XM_047447505.1:c.1239T>G, NM_001394970.1:c.1239T>G, NM_001394963.1:c.1239T>G, NM_001394964.1:c.1152T>G, NM_001394971.1:c.1239T>G, NM_001394965.1:c.1239T>G, NM_001394966.1:c.1239T>G, NM_001394967.1:c.1152T>G, XM_047447507.1:c.1239T>G, XM_047447506.1:c.1152T>G, NM_001394968.1:c.1260T>G, XM_047447508.1:c.1239T>G, XM_047447509.1:c.1239T>G, NM_001394969.1:c.1152T>G, XM_047447510.1:c.1239T>G, XM_047447511.1:c.1239T>G, XM_047447512.1:c.1152T>G

                    10.

                    rs1478035578 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      3:27308926 (GRCh38)
                      3:27350417 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:27308925:C:G
                      Gene:
                      NEK10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.27308926C>G, NC_000003.11:g.27350417C>G, NM_152534.6:c.716G>C, NM_152534.5:c.716G>C, NM_152534.4:c.716G>C, NM_152534.3:c.716G>C, XM_006713001.4:c.716G>C, XM_006713001.3:c.716G>C, XM_006713001.2:c.716G>C, XM_006713001.1:c.716G>C, XM_006712999.4:c.716G>C, XM_006712999.3:c.716G>C, XM_006712999.2:c.716G>C, XM_006712999.1:c.716G>C, NM_199347.4:c.716G>C, NM_199347.3:c.716G>C, NM_199347.2:c.716G>C, XM_017005774.3:c.716G>C, XM_017005774.2:c.716G>C, XM_017005774.1:c.716G>C, XM_017005762.3:c.716G>C, XM_017005762.2:c.716G>C, XM_017005762.1:c.716G>C, XM_006712998.3:c.716G>C, XM_006712998.2:c.716G>C, XM_006712998.1:c.716G>C, XM_011533414.3:c.716G>C, XM_011533414.2:c.716G>C, XM_011533414.1:c.716G>C, XM_017005763.2:c.716G>C, XM_017005763.1:c.716G>C, XM_017005764.2:c.716G>C, XM_017005764.1:c.716G>C, XM_017005765.2:c.716G>C, XM_017005765.1:c.716G>C, XM_017005768.2:c.716G>C, XM_017005768.1:c.716G>C, XR_001740034.2:n.952G>C, XR_001740034.1:n.990G>C, XM_047447505.1:c.716G>C, NM_001394970.1:c.716G>C, NM_001394963.1:c.716G>C, NM_001394964.1:c.716G>C, NM_001394971.1:c.716G>C, NM_001394965.1:c.716G>C, NM_001394966.1:c.716G>C, NM_001394967.1:c.716G>C, XM_047447507.1:c.716G>C, XM_047447506.1:c.716G>C, NM_001394968.1:c.716G>C, XM_047447508.1:c.716G>C, XM_047447509.1:c.716G>C, NM_001394969.1:c.716G>C, XM_047447510.1:c.716G>C, XM_047447511.1:c.716G>C, XM_047447512.1:c.716G>C, NP_689747.3:p.Ser239Thr, XP_006713064.1:p.Ser239Thr, XP_006713062.1:p.Ser239Thr, NP_955379.2:p.Ser239Thr, XP_016861263.1:p.Ser239Thr, XP_016861251.1:p.Ser239Thr, XP_006713061.1:p.Ser239Thr, XP_011531716.1:p.Ser239Thr, XP_016861252.1:p.Ser239Thr, XP_016861253.1:p.Ser239Thr, XP_016861254.1:p.Ser239Thr, XP_016861257.1:p.Ser239Thr, XP_047303461.1:p.Ser239Thr, NP_001381899.1:p.Ser239Thr, NP_001381892.1:p.Ser239Thr, NP_001381893.1:p.Arg239Thr, NP_001381900.1:p.Ser239Thr, NP_001381894.1:p.Ser239Thr, NP_001381895.1:p.Ser239Thr, NP_001381896.1:p.Arg239Thr, XP_047303463.1:p.Ser239Thr, XP_047303462.1:p.Arg239Thr, NP_001381897.1:p.Ser239Thr, XP_047303464.1:p.Ser239Thr, XP_047303465.1:p.Ser239Thr, NP_001381898.1:p.Arg239Thr, XP_047303466.1:p.Ser239Thr, XP_047303467.1:p.Ser239Thr, XP_047303468.1:p.Arg239Thr

                      11.

                      rs1476648029 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        3:27290623 (GRCh38)
                        3:27332114 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:27290622:T:A
                        Gene:
                        NEK10 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_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_000003.12:g.27290623T>A, NC_000003.11:g.27332114T>A, NM_152534.6:c.1737A>T, NM_152534.5:c.1737A>T, NM_152534.4:c.1737A>T, NM_152534.3:c.1737A>T, XM_006713001.4:c.1737A>T, XM_006713001.3:c.1737A>T, XM_006713001.2:c.1737A>T, XM_006713001.1:c.1737A>T, XM_006712999.4:c.1737A>T, XM_006712999.3:c.1737A>T, XM_006712999.2:c.1737A>T, XM_006712999.1:c.1737A>T, NM_199347.4:c.1737A>T, NM_199347.3:c.1737A>T, NM_199347.2:c.1737A>T, XM_017005774.3:c.1737A>T, XM_017005774.2:c.1737A>T, XM_017005774.1:c.1737A>T, XM_017005762.3:c.1737A>T, XM_017005762.2:c.1737A>T, XM_017005762.1:c.1737A>T, XM_006712998.3:c.1737A>T, XM_006712998.2:c.1737A>T, XM_006712998.1:c.1737A>T, XM_011533414.3:c.1737A>T, XM_011533414.2:c.1737A>T, XM_011533414.1:c.1737A>T, XM_017005763.2:c.1737A>T, XM_017005763.1:c.1737A>T, XM_017005764.2:c.1737A>T, XM_017005764.1:c.1737A>T, XM_017005765.2:c.1737A>T, XM_017005765.1:c.1737A>T, XR_001740034.2:n.1973A>T, XR_001740034.1:n.2011A>T, XM_047447505.1:c.1737A>T, NM_001394970.1:c.1737A>T, NM_001394963.1:c.1737A>T, NM_001394964.1:c.1650A>T, NM_001394971.1:c.1737A>T, NM_001394965.1:c.1737A>T, NM_001394966.1:c.1737A>T, NM_001394967.1:c.1650A>T, XM_047447506.1:c.1650A>T, XM_047447509.1:c.1737A>T, NM_001394969.1:c.1650A>T, XM_047447510.1:c.1737A>T, NP_689747.3:p.Lys579Asn, XP_006713064.1:p.Lys579Asn, XP_006713062.1:p.Lys579Asn, NP_955379.2:p.Lys579Asn, XP_016861263.1:p.Lys579Asn, XP_016861251.1:p.Lys579Asn, XP_006713061.1:p.Lys579Asn, XP_011531716.1:p.Lys579Asn, XP_016861252.1:p.Lys579Asn, XP_016861253.1:p.Lys579Asn, XP_016861254.1:p.Lys579Asn, XP_047303461.1:p.Lys579Asn, NP_001381899.1:p.Lys579Asn, NP_001381892.1:p.Lys579Asn, NP_001381893.1:p.Lys550Asn, NP_001381900.1:p.Lys579Asn, NP_001381894.1:p.Lys579Asn, NP_001381895.1:p.Lys579Asn, NP_001381896.1:p.Lys550Asn, XP_047303462.1:p.Lys550Asn, XP_047303465.1:p.Lys579Asn, NP_001381898.1:p.Lys550Asn, XP_047303466.1:p.Lys579Asn

                        12.

                        rs1475671058 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          3:27284666 (GRCh38)
                          3:27326157 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:27284665:C:G,NC_000003.12:27284665:C:T
                          Gene:
                          NEK10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0./0 (GnomAD)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.27284666C>G, NC_000003.12:g.27284666C>T, NC_000003.11:g.27326157C>G, NC_000003.11:g.27326157C>T, NM_152534.6:c.1950G>C, NM_152534.6:c.1950G>A, NM_152534.5:c.1950G>C, NM_152534.5:c.1950G>A, NM_152534.4:c.1950G>C, NM_152534.4:c.1950G>A, NM_152534.3:c.1950G>C, NM_152534.3:c.1950G>A, NM_152534.2:c.141G>C, NM_152534.2:c.141G>A, XM_006713001.4:c.1950G>C, XM_006713001.4:c.1950G>A, XM_006713001.3:c.1950G>C, XM_006713001.3:c.1950G>A, XM_006713001.2:c.1950G>C, XM_006713001.2:c.1950G>A, XM_006713001.1:c.1950G>C, XM_006713001.1:c.1950G>A, XM_006712999.4:c.1950G>C, XM_006712999.4:c.1950G>A, XM_006712999.3:c.1950G>C, XM_006712999.3:c.1950G>A, XM_006712999.2:c.1950G>C, XM_006712999.2:c.1950G>A, XM_006712999.1:c.1950G>C, XM_006712999.1:c.1950G>A, NM_199347.4:c.1950G>C, NM_199347.4:c.1950G>A, NM_199347.3:c.1950G>C, NM_199347.3:c.1950G>A, NM_199347.2:c.1950G>C, NM_199347.2:c.1950G>A, XM_017005774.3:c.1950G>C, XM_017005774.3:c.1950G>A, XM_017005774.2:c.1950G>C, XM_017005774.2:c.1950G>A, XM_017005774.1:c.1950G>C, XM_017005774.1:c.1950G>A, XM_017005762.3:c.1950G>C, XM_017005762.3:c.1950G>A, XM_017005762.2:c.1950G>C, XM_017005762.2:c.1950G>A, XM_017005762.1:c.1950G>C, XM_017005762.1:c.1950G>A, XM_006712998.3:c.1950G>C, XM_006712998.3:c.1950G>A, XM_006712998.2:c.1950G>C, XM_006712998.2:c.1950G>A, XM_006712998.1:c.1950G>C, XM_006712998.1:c.1950G>A, XM_011533414.3:c.1950G>C, XM_011533414.3:c.1950G>A, XM_011533414.2:c.1950G>C, XM_011533414.2:c.1950G>A, XM_011533414.1:c.1950G>C, XM_011533414.1:c.1950G>A, XM_017005763.2:c.1950G>C, XM_017005763.2:c.1950G>A, XM_017005763.1:c.1950G>C, XM_017005763.1:c.1950G>A, XM_017005764.2:c.1950G>C, XM_017005764.2:c.1950G>A, XM_017005764.1:c.1950G>C, XM_017005764.1:c.1950G>A, XM_017005765.2:c.1950G>C, XM_017005765.2:c.1950G>A, XM_017005765.1:c.1950G>C, XM_017005765.1:c.1950G>A, XM_017005768.2:c.1812G>C, XM_017005768.2:c.1812G>A, XM_017005768.1:c.1812G>C, XM_017005768.1:c.1812G>A, XR_001740034.2:n.2186G>C, XR_001740034.2:n.2186G>A, XR_001740034.1:n.2224G>C, XR_001740034.1:n.2224G>A, XM_047447505.1:c.1950G>C, XM_047447505.1:c.1950G>A, NM_001394970.1:c.1950G>C, NM_001394970.1:c.1950G>A, NM_001394963.1:c.1950G>C, NM_001394963.1:c.1950G>A, NM_001394964.1:c.1863G>C, NM_001394964.1:c.1863G>A, NM_001394971.1:c.1950G>C, NM_001394971.1:c.1950G>A, NM_001394965.1:c.1950G>C, NM_001394965.1:c.1950G>A, NM_001394966.1:c.1950G>C, NM_001394966.1:c.1950G>A, NM_001394967.1:c.1863G>C, NM_001394967.1:c.1863G>A, XM_047447507.1:c.1812G>C, XM_047447507.1:c.1812G>A, XM_047447506.1:c.1863G>C, XM_047447506.1:c.1863G>A, NM_001394968.1:c.1833G>C, NM_001394968.1:c.1833G>A, XM_047447508.1:c.1812G>C, XM_047447508.1:c.1812G>A, XM_047447509.1:c.1950G>C, XM_047447509.1:c.1950G>A, NM_001394969.1:c.1863G>C, NM_001394969.1:c.1863G>A, XM_047447510.1:c.1950G>C, XM_047447510.1:c.1950G>A, XM_047447511.1:c.1812G>C, XM_047447511.1:c.1812G>A, XM_047447512.1:c.1725G>C, XM_047447512.1:c.1725G>A, NP_689747.3:p.Arg650Ser, XP_006713064.1:p.Arg650Ser, XP_006713062.1:p.Arg650Ser, NP_955379.2:p.Arg650Ser, XP_016861263.1:p.Arg650Ser, XP_016861251.1:p.Arg650Ser, XP_006713061.1:p.Arg650Ser, XP_011531716.1:p.Arg650Ser, XP_016861252.1:p.Arg650Ser, XP_016861253.1:p.Arg650Ser, XP_016861254.1:p.Arg650Ser, XP_016861257.1:p.Arg604Ser, XP_047303461.1:p.Arg650Ser, NP_001381899.1:p.Arg650Ser, NP_001381892.1:p.Arg650Ser, NP_001381893.1:p.Arg621Ser, NP_001381900.1:p.Arg650Ser, NP_001381894.1:p.Arg650Ser, NP_001381895.1:p.Arg650Ser, NP_001381896.1:p.Arg621Ser, XP_047303463.1:p.Arg604Ser, XP_047303462.1:p.Arg621Ser, NP_001381897.1:p.Arg611Ser, XP_047303464.1:p.Arg604Ser, XP_047303465.1:p.Arg650Ser, NP_001381898.1:p.Arg621Ser, XP_047303466.1:p.Arg650Ser, XP_047303467.1:p.Arg604Ser, XP_047303468.1:p.Arg575Ser

                          13.

                          rs1475652279 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:27304961 (GRCh38)
                            3:27346452 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:27304960:C:G
                            Gene:
                            NEK10 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.27304961C>G, NC_000003.11:g.27346452C>G, NM_152534.6:c.814G>C, NM_152534.5:c.814G>C, NM_152534.4:c.814G>C, NM_152534.3:c.814G>C, XM_006713001.4:c.814G>C, XM_006713001.3:c.814G>C, XM_006713001.2:c.814G>C, XM_006713001.1:c.814G>C, XM_006712999.4:c.814G>C, XM_006712999.3:c.814G>C, XM_006712999.2:c.814G>C, XM_006712999.1:c.814G>C, NM_199347.4:c.814G>C, NM_199347.3:c.814G>C, NM_199347.2:c.814G>C, XM_017005774.3:c.814G>C, XM_017005774.2:c.814G>C, XM_017005774.1:c.814G>C, XM_017005762.3:c.814G>C, XM_017005762.2:c.814G>C, XM_017005762.1:c.814G>C, XM_006712998.3:c.814G>C, XM_006712998.2:c.814G>C, XM_006712998.1:c.814G>C, XM_011533414.3:c.814G>C, XM_011533414.2:c.814G>C, XM_011533414.1:c.814G>C, XM_017005763.2:c.814G>C, XM_017005763.1:c.814G>C, XM_017005764.2:c.814G>C, XM_017005764.1:c.814G>C, XM_017005765.2:c.814G>C, XM_017005765.1:c.814G>C, XM_017005768.2:c.814G>C, XM_017005768.1:c.814G>C, XR_001740034.2:n.1050G>C, XR_001740034.1:n.1088G>C, XM_047447505.1:c.814G>C, NM_001394970.1:c.814G>C, NM_001394963.1:c.814G>C, NM_001394964.1:c.727G>C, NM_001394971.1:c.814G>C, NM_001394965.1:c.814G>C, NM_001394966.1:c.814G>C, NM_001394967.1:c.727G>C, XM_047447507.1:c.814G>C, XM_047447506.1:c.727G>C, NM_001394968.1:c.814G>C, XM_047447508.1:c.814G>C, XM_047447509.1:c.814G>C, NM_001394969.1:c.727G>C, XM_047447510.1:c.814G>C, XM_047447511.1:c.814G>C, XM_047447512.1:c.727G>C, NP_689747.3:p.Glu272Gln, XP_006713064.1:p.Glu272Gln, XP_006713062.1:p.Glu272Gln, NP_955379.2:p.Glu272Gln, XP_016861263.1:p.Glu272Gln, XP_016861251.1:p.Glu272Gln, XP_006713061.1:p.Glu272Gln, XP_011531716.1:p.Glu272Gln, XP_016861252.1:p.Glu272Gln, XP_016861253.1:p.Glu272Gln, XP_016861254.1:p.Glu272Gln, XP_016861257.1:p.Glu272Gln, XP_047303461.1:p.Glu272Gln, NP_001381899.1:p.Glu272Gln, NP_001381892.1:p.Glu272Gln, NP_001381893.1:p.Glu243Gln, NP_001381900.1:p.Glu272Gln, NP_001381894.1:p.Glu272Gln, NP_001381895.1:p.Glu272Gln, NP_001381896.1:p.Glu243Gln, XP_047303463.1:p.Glu272Gln, XP_047303462.1:p.Glu243Gln, NP_001381897.1:p.Glu272Gln, XP_047303464.1:p.Glu272Gln, XP_047303465.1:p.Glu272Gln, NP_001381898.1:p.Glu243Gln, XP_047303466.1:p.Glu272Gln, XP_047303467.1:p.Glu272Gln, XP_047303468.1:p.Glu243Gln

                            14.

                            rs1473046891 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:27301827 (GRCh38)
                              3:27343318 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:27301826:T:C
                              Gene:
                              NEK10 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              HGVS:
                              NC_000003.12:g.27301827T>C, NC_000003.11:g.27343318T>C, NM_152534.6:c.1037A>G, NM_152534.5:c.1037A>G, NM_152534.4:c.1037A>G, NM_152534.3:c.1037A>G, XM_006713001.4:c.1037A>G, XM_006713001.3:c.1037A>G, XM_006713001.2:c.1037A>G, XM_006713001.1:c.1037A>G, XM_006712999.4:c.1037A>G, XM_006712999.3:c.1037A>G, XM_006712999.2:c.1037A>G, XM_006712999.1:c.1037A>G, NM_199347.4:c.1037A>G, NM_199347.3:c.1037A>G, NM_199347.2:c.1037A>G, XM_017005774.3:c.1037A>G, XM_017005774.2:c.1037A>G, XM_017005774.1:c.1037A>G, XM_017005762.3:c.1037A>G, XM_017005762.2:c.1037A>G, XM_017005762.1:c.1037A>G, XM_006712998.3:c.1037A>G, XM_006712998.2:c.1037A>G, XM_006712998.1:c.1037A>G, XM_011533414.3:c.1037A>G, XM_011533414.2:c.1037A>G, XM_011533414.1:c.1037A>G, XM_017005763.2:c.1037A>G, XM_017005763.1:c.1037A>G, XM_017005764.2:c.1037A>G, XM_017005764.1:c.1037A>G, XM_017005765.2:c.1037A>G, XM_017005765.1:c.1037A>G, XM_017005768.2:c.1037A>G, XM_017005768.1:c.1037A>G, XR_001740034.2:n.1273A>G, XR_001740034.1:n.1311A>G, XM_047447505.1:c.1037A>G, NM_001394970.1:c.1037A>G, NM_001394963.1:c.1037A>G, NM_001394964.1:c.950A>G, NM_001394971.1:c.1037A>G, NM_001394965.1:c.1037A>G, NM_001394966.1:c.1037A>G, NM_001394967.1:c.950A>G, XM_047447507.1:c.1037A>G, XM_047447506.1:c.950A>G, NM_001394968.1:c.1037A>G, XM_047447508.1:c.1037A>G, XM_047447509.1:c.1037A>G, NM_001394969.1:c.950A>G, XM_047447510.1:c.1037A>G, XM_047447511.1:c.1037A>G, XM_047447512.1:c.950A>G, NP_689747.3:p.Asn346Ser, XP_006713064.1:p.Asn346Ser, XP_006713062.1:p.Asn346Ser, NP_955379.2:p.Asn346Ser, XP_016861263.1:p.Asn346Ser, XP_016861251.1:p.Asn346Ser, XP_006713061.1:p.Asn346Ser, XP_011531716.1:p.Asn346Ser, XP_016861252.1:p.Asn346Ser, XP_016861253.1:p.Asn346Ser, XP_016861254.1:p.Asn346Ser, XP_016861257.1:p.Asn346Ser, XP_047303461.1:p.Asn346Ser, NP_001381899.1:p.Asn346Ser, NP_001381892.1:p.Asn346Ser, NP_001381893.1:p.Asn317Ser, NP_001381900.1:p.Asn346Ser, NP_001381894.1:p.Asn346Ser, NP_001381895.1:p.Asn346Ser, NP_001381896.1:p.Asn317Ser, XP_047303463.1:p.Asn346Ser, XP_047303462.1:p.Asn317Ser, NP_001381897.1:p.Asn346Ser, XP_047303464.1:p.Asn346Ser, XP_047303465.1:p.Asn346Ser, NP_001381898.1:p.Asn317Ser, XP_047303466.1:p.Asn346Ser, XP_047303467.1:p.Asn346Ser, XP_047303468.1:p.Asn317Ser

                              15.

                              rs1472430675 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:27290710 (GRCh38)
                                3:27332201 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:27290709:G:A,NC_000003.12:27290709:G:T
                                Gene:
                                NEK10 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.27290710G>A, NC_000003.12:g.27290710G>T, NC_000003.11:g.27332201G>A, NC_000003.11:g.27332201G>T, NM_152534.6:c.1650C>T, NM_152534.6:c.1650C>A, NM_152534.5:c.1650C>T, NM_152534.5:c.1650C>A, NM_152534.4:c.1650C>T, NM_152534.4:c.1650C>A, NM_152534.3:c.1650C>T, NM_152534.3:c.1650C>A, XM_006713001.4:c.1650C>T, XM_006713001.4:c.1650C>A, XM_006713001.3:c.1650C>T, XM_006713001.3:c.1650C>A, XM_006713001.2:c.1650C>T, XM_006713001.2:c.1650C>A, XM_006713001.1:c.1650C>T, XM_006713001.1:c.1650C>A, XM_006712999.4:c.1650C>T, XM_006712999.4:c.1650C>A, XM_006712999.3:c.1650C>T, XM_006712999.3:c.1650C>A, XM_006712999.2:c.1650C>T, XM_006712999.2:c.1650C>A, XM_006712999.1:c.1650C>T, XM_006712999.1:c.1650C>A, NM_199347.4:c.1650C>T, NM_199347.4:c.1650C>A, NM_199347.3:c.1650C>T, NM_199347.3:c.1650C>A, NM_199347.2:c.1650C>T, NM_199347.2:c.1650C>A, XM_017005774.3:c.1650C>T, XM_017005774.3:c.1650C>A, XM_017005774.2:c.1650C>T, XM_017005774.2:c.1650C>A, XM_017005774.1:c.1650C>T, XM_017005774.1:c.1650C>A, XM_017005762.3:c.1650C>T, XM_017005762.3:c.1650C>A, XM_017005762.2:c.1650C>T, XM_017005762.2:c.1650C>A, XM_017005762.1:c.1650C>T, XM_017005762.1:c.1650C>A, XM_006712998.3:c.1650C>T, XM_006712998.3:c.1650C>A, XM_006712998.2:c.1650C>T, XM_006712998.2:c.1650C>A, XM_006712998.1:c.1650C>T, XM_006712998.1:c.1650C>A, XM_011533414.3:c.1650C>T, XM_011533414.3:c.1650C>A, XM_011533414.2:c.1650C>T, XM_011533414.2:c.1650C>A, XM_011533414.1:c.1650C>T, XM_011533414.1:c.1650C>A, XM_017005763.2:c.1650C>T, XM_017005763.2:c.1650C>A, XM_017005763.1:c.1650C>T, XM_017005763.1:c.1650C>A, XM_017005764.2:c.1650C>T, XM_017005764.2:c.1650C>A, XM_017005764.1:c.1650C>T, XM_017005764.1:c.1650C>A, XM_017005765.2:c.1650C>T, XM_017005765.2:c.1650C>A, XM_017005765.1:c.1650C>T, XM_017005765.1:c.1650C>A, XR_001740034.2:n.1886C>T, XR_001740034.2:n.1886C>A, XR_001740034.1:n.1924C>T, XR_001740034.1:n.1924C>A, XM_047447505.1:c.1650C>T, XM_047447505.1:c.1650C>A, NM_001394970.1:c.1650C>T, NM_001394970.1:c.1650C>A, NM_001394963.1:c.1650C>T, NM_001394963.1:c.1650C>A, NM_001394964.1:c.1563C>T, NM_001394964.1:c.1563C>A, NM_001394971.1:c.1650C>T, NM_001394971.1:c.1650C>A, NM_001394965.1:c.1650C>T, NM_001394965.1:c.1650C>A, NM_001394966.1:c.1650C>T, NM_001394966.1:c.1650C>A, NM_001394967.1:c.1563C>T, NM_001394967.1:c.1563C>A, XM_047447506.1:c.1563C>T, XM_047447506.1:c.1563C>A, XM_047447509.1:c.1650C>T, XM_047447509.1:c.1650C>A, NM_001394969.1:c.1563C>T, NM_001394969.1:c.1563C>A, XM_047447510.1:c.1650C>T, XM_047447510.1:c.1650C>A

                                16.

                                rs1472200266 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  3:27291323 (GRCh38)
                                  3:27332814 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:27291322:T:A,NC_000003.12:27291322:T:C
                                  Gene:
                                  NEK10 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000003.12:g.27291323T>A, NC_000003.12:g.27291323T>C, NC_000003.11:g.27332814T>A, NC_000003.11:g.27332814T>C, NM_152534.6:c.1544A>T, NM_152534.6:c.1544A>G, NM_152534.5:c.1544A>T, NM_152534.5:c.1544A>G, NM_152534.4:c.1544A>T, NM_152534.4:c.1544A>G, NM_152534.3:c.1544A>T, NM_152534.3:c.1544A>G, NM_152534.2:c.-128A>T, NM_152534.2:c.-128A>G, XM_006713001.4:c.1544A>T, XM_006713001.4:c.1544A>G, XM_006713001.3:c.1544A>T, XM_006713001.3:c.1544A>G, XM_006713001.2:c.1544A>T, XM_006713001.2:c.1544A>G, XM_006713001.1:c.1544A>T, XM_006713001.1:c.1544A>G, XM_006712999.4:c.1544A>T, XM_006712999.4:c.1544A>G, XM_006712999.3:c.1544A>T, XM_006712999.3:c.1544A>G, XM_006712999.2:c.1544A>T, XM_006712999.2:c.1544A>G, XM_006712999.1:c.1544A>T, XM_006712999.1:c.1544A>G, NM_199347.4:c.1544A>T, NM_199347.4:c.1544A>G, NM_199347.3:c.1544A>T, NM_199347.3:c.1544A>G, NM_199347.2:c.1544A>T, NM_199347.2:c.1544A>G, XM_017005774.3:c.1544A>T, XM_017005774.3:c.1544A>G, XM_017005774.2:c.1544A>T, XM_017005774.2:c.1544A>G, XM_017005774.1:c.1544A>T, XM_017005774.1:c.1544A>G, XM_017005762.3:c.1544A>T, XM_017005762.3:c.1544A>G, XM_017005762.2:c.1544A>T, XM_017005762.2:c.1544A>G, XM_017005762.1:c.1544A>T, XM_017005762.1:c.1544A>G, XM_006712998.3:c.1544A>T, XM_006712998.3:c.1544A>G, XM_006712998.2:c.1544A>T, XM_006712998.2:c.1544A>G, XM_006712998.1:c.1544A>T, XM_006712998.1:c.1544A>G, XM_011533414.3:c.1544A>T, XM_011533414.3:c.1544A>G, XM_011533414.2:c.1544A>T, XM_011533414.2:c.1544A>G, XM_011533414.1:c.1544A>T, XM_011533414.1:c.1544A>G, XM_017005763.2:c.1544A>T, XM_017005763.2:c.1544A>G, XM_017005763.1:c.1544A>T, XM_017005763.1:c.1544A>G, XM_017005764.2:c.1544A>T, XM_017005764.2:c.1544A>G, XM_017005764.1:c.1544A>T, XM_017005764.1:c.1544A>G, XM_017005765.2:c.1544A>T, XM_017005765.2:c.1544A>G, XM_017005765.1:c.1544A>T, XM_017005765.1:c.1544A>G, XM_017005768.2:c.1544A>T, XM_017005768.2:c.1544A>G, XM_017005768.1:c.1544A>T, XM_017005768.1:c.1544A>G, XR_001740034.2:n.1780A>T, XR_001740034.2:n.1780A>G, XR_001740034.1:n.1818A>T, XR_001740034.1:n.1818A>G, XM_047447505.1:c.1544A>T, XM_047447505.1:c.1544A>G, NM_001394970.1:c.1544A>T, NM_001394970.1:c.1544A>G, NM_001394963.1:c.1544A>T, NM_001394963.1:c.1544A>G, NM_001394964.1:c.1457A>T, NM_001394964.1:c.1457A>G, NM_001394971.1:c.1544A>T, NM_001394971.1:c.1544A>G, NM_001394965.1:c.1544A>T, NM_001394965.1:c.1544A>G, NM_001394966.1:c.1544A>T, NM_001394966.1:c.1544A>G, NM_001394967.1:c.1457A>T, NM_001394967.1:c.1457A>G, XM_047447507.1:c.1544A>T, XM_047447507.1:c.1544A>G, XM_047447506.1:c.1457A>T, XM_047447506.1:c.1457A>G, NM_001394968.1:c.1565A>T, NM_001394968.1:c.1565A>G, XM_047447508.1:c.1544A>T, XM_047447508.1:c.1544A>G, XM_047447509.1:c.1544A>T, XM_047447509.1:c.1544A>G, NM_001394969.1:c.1457A>T, NM_001394969.1:c.1457A>G, XM_047447510.1:c.1544A>T, XM_047447510.1:c.1544A>G, XM_047447511.1:c.1544A>T, XM_047447511.1:c.1544A>G, XM_047447512.1:c.1457A>T, XM_047447512.1:c.1457A>G, NP_689747.3:p.Tyr515Phe, NP_689747.3:p.Tyr515Cys, XP_006713064.1:p.Tyr515Phe, XP_006713064.1:p.Tyr515Cys, XP_006713062.1:p.Tyr515Phe, XP_006713062.1:p.Tyr515Cys, NP_955379.2:p.Tyr515Phe, NP_955379.2:p.Tyr515Cys, XP_016861263.1:p.Tyr515Phe, XP_016861263.1:p.Tyr515Cys, XP_016861251.1:p.Tyr515Phe, XP_016861251.1:p.Tyr515Cys, XP_006713061.1:p.Tyr515Phe, XP_006713061.1:p.Tyr515Cys, XP_011531716.1:p.Tyr515Phe, XP_011531716.1:p.Tyr515Cys, XP_016861252.1:p.Tyr515Phe, XP_016861252.1:p.Tyr515Cys, XP_016861253.1:p.Tyr515Phe, XP_016861253.1:p.Tyr515Cys, XP_016861254.1:p.Tyr515Phe, XP_016861254.1:p.Tyr515Cys, XP_016861257.1:p.Tyr515Phe, XP_016861257.1:p.Tyr515Cys, XP_047303461.1:p.Tyr515Phe, XP_047303461.1:p.Tyr515Cys, NP_001381899.1:p.Tyr515Phe, NP_001381899.1:p.Tyr515Cys, NP_001381892.1:p.Tyr515Phe, NP_001381892.1:p.Tyr515Cys, NP_001381893.1:p.Tyr486Phe, NP_001381893.1:p.Tyr486Cys, NP_001381900.1:p.Tyr515Phe, NP_001381900.1:p.Tyr515Cys, NP_001381894.1:p.Tyr515Phe, NP_001381894.1:p.Tyr515Cys, NP_001381895.1:p.Tyr515Phe, NP_001381895.1:p.Tyr515Cys, NP_001381896.1:p.Tyr486Phe, NP_001381896.1:p.Tyr486Cys, XP_047303463.1:p.Tyr515Phe, XP_047303463.1:p.Tyr515Cys, XP_047303462.1:p.Tyr486Phe, XP_047303462.1:p.Tyr486Cys, NP_001381897.1:p.Tyr522Phe, NP_001381897.1:p.Tyr522Cys, XP_047303464.1:p.Tyr515Phe, XP_047303464.1:p.Tyr515Cys, XP_047303465.1:p.Tyr515Phe, XP_047303465.1:p.Tyr515Cys, NP_001381898.1:p.Tyr486Phe, NP_001381898.1:p.Tyr486Cys, XP_047303466.1:p.Tyr515Phe, XP_047303466.1:p.Tyr515Cys, XP_047303467.1:p.Tyr515Phe, XP_047303467.1:p.Tyr515Cys, XP_047303468.1:p.Tyr486Phe, XP_047303468.1:p.Tyr486Cys

                                  17.

                                  rs1470232660 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:27202551 (GRCh38)
                                    3:27244042 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:27202550:C:T
                                    Gene:
                                    NEK10 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.27202551C>T, NC_000003.11:g.27244042C>T, NM_152534.6:c.2097G>A, NM_152534.5:c.2097G>A, NM_152534.4:c.2097G>A, NM_152534.3:c.2097G>A, NM_152534.2:c.288G>A, NM_152534.1:c.33G>A, NM_001031741.5:c.33G>A, NM_001031741.4:c.33G>A, NM_001031741.3:c.33G>A, NM_001031741.2:c.33G>A, NM_001031741.1:c.33G>A, XM_006713001.4:c.2097G>A, XM_006713001.3:c.2097G>A, XM_006713001.2:c.2097G>A, XM_006713001.1:c.2097G>A, XM_006712999.4:c.2097G>A, XM_006712999.3:c.2097G>A, XM_006712999.2:c.2097G>A, XM_006712999.1:c.2097G>A, XM_017005762.3:c.2097G>A, XM_017005762.2:c.2097G>A, XM_017005762.1:c.2097G>A, NM_001304384.3:c.33G>A, NM_001304384.2:c.33G>A, NM_001304384.1:c.33G>A, XM_006712998.3:c.2097G>A, XM_006712998.2:c.2097G>A, XM_006712998.1:c.2097G>A, XM_011533414.3:c.2021G>A, XM_011533414.2:c.2021G>A, XM_011533414.1:c.2021G>A, XM_017005763.2:c.2097G>A, XM_017005763.1:c.2097G>A, XM_017005764.2:c.2097G>A, XM_017005764.1:c.2097G>A, XM_017005765.2:c.2097G>A, XM_017005765.1:c.2097G>A, XM_017005768.2:c.1959G>A, XM_017005768.1:c.1959G>A, XR_001740034.2:n.2333G>A, XR_001740034.1:n.2371G>A, XM_047447505.1:c.2097G>A, NM_001394970.1:c.2097G>A, NM_001394963.1:c.2097G>A, NM_001394964.1:c.2010G>A, NM_001394971.1:c.2097G>A, NM_001394965.1:c.2097G>A, NM_001394966.1:c.2097G>A, NM_001394967.1:c.2010G>A, XM_047447507.1:c.1959G>A, XM_047447506.1:c.2010G>A, NM_001394968.1:c.1980G>A, XM_047447508.1:c.1959G>A, XM_047447509.1:c.2097G>A, XP_011531716.1:p.Arg674Lys

                                    18.

                                    rs1469800344 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:27295616 (GRCh38)
                                      3:27337107 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:27295615:T:C
                                      Gene:
                                      NEK10 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000003.12:g.27295616T>C, NC_000003.11:g.27337107T>C, NM_152534.6:c.1305A>G, NM_152534.5:c.1305A>G, NM_152534.4:c.1305A>G, NM_152534.3:c.1305A>G, XM_006713001.4:c.1305A>G, XM_006713001.3:c.1305A>G, XM_006713001.2:c.1305A>G, XM_006713001.1:c.1305A>G, XM_006712999.4:c.1305A>G, XM_006712999.3:c.1305A>G, XM_006712999.2:c.1305A>G, XM_006712999.1:c.1305A>G, NM_199347.4:c.1305A>G, NM_199347.3:c.1305A>G, NM_199347.2:c.1305A>G, XM_017005774.3:c.1305A>G, XM_017005774.2:c.1305A>G, XM_017005774.1:c.1305A>G, XM_017005762.3:c.1305A>G, XM_017005762.2:c.1305A>G, XM_017005762.1:c.1305A>G, XM_006712998.3:c.1305A>G, XM_006712998.2:c.1305A>G, XM_006712998.1:c.1305A>G, XM_011533414.3:c.1305A>G, XM_011533414.2:c.1305A>G, XM_011533414.1:c.1305A>G, XM_017005763.2:c.1305A>G, XM_017005763.1:c.1305A>G, XM_017005764.2:c.1305A>G, XM_017005764.1:c.1305A>G, XM_017005765.2:c.1305A>G, XM_017005765.1:c.1305A>G, XM_017005768.2:c.1305A>G, XM_017005768.1:c.1305A>G, XR_001740034.2:n.1541A>G, XR_001740034.1:n.1579A>G, XM_047447505.1:c.1305A>G, NM_001394970.1:c.1305A>G, NM_001394963.1:c.1305A>G, NM_001394964.1:c.1218A>G, NM_001394971.1:c.1305A>G, NM_001394965.1:c.1305A>G, NM_001394966.1:c.1305A>G, NM_001394967.1:c.1218A>G, XM_047447507.1:c.1305A>G, XM_047447506.1:c.1218A>G, NM_001394968.1:c.1326A>G, XM_047447508.1:c.1305A>G, XM_047447509.1:c.1305A>G, NM_001394969.1:c.1218A>G, XM_047447510.1:c.1305A>G, XM_047447511.1:c.1305A>G, XM_047447512.1:c.1218A>G

                                      19.

                                      rs1469771626 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:27301828 (GRCh38)
                                        3:27343319 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:27301827:T:G
                                        Gene:
                                        NEK10 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.27301828T>G, NC_000003.11:g.27343319T>G, NM_152534.6:c.1036A>C, NM_152534.5:c.1036A>C, NM_152534.4:c.1036A>C, NM_152534.3:c.1036A>C, XM_006713001.4:c.1036A>C, XM_006713001.3:c.1036A>C, XM_006713001.2:c.1036A>C, XM_006713001.1:c.1036A>C, XM_006712999.4:c.1036A>C, XM_006712999.3:c.1036A>C, XM_006712999.2:c.1036A>C, XM_006712999.1:c.1036A>C, NM_199347.4:c.1036A>C, NM_199347.3:c.1036A>C, NM_199347.2:c.1036A>C, XM_017005774.3:c.1036A>C, XM_017005774.2:c.1036A>C, XM_017005774.1:c.1036A>C, XM_017005762.3:c.1036A>C, XM_017005762.2:c.1036A>C, XM_017005762.1:c.1036A>C, XM_006712998.3:c.1036A>C, XM_006712998.2:c.1036A>C, XM_006712998.1:c.1036A>C, XM_011533414.3:c.1036A>C, XM_011533414.2:c.1036A>C, XM_011533414.1:c.1036A>C, XM_017005763.2:c.1036A>C, XM_017005763.1:c.1036A>C, XM_017005764.2:c.1036A>C, XM_017005764.1:c.1036A>C, XM_017005765.2:c.1036A>C, XM_017005765.1:c.1036A>C, XM_017005768.2:c.1036A>C, XM_017005768.1:c.1036A>C, XR_001740034.2:n.1272A>C, XR_001740034.1:n.1310A>C, XM_047447505.1:c.1036A>C, NM_001394970.1:c.1036A>C, NM_001394963.1:c.1036A>C, NM_001394964.1:c.949A>C, NM_001394971.1:c.1036A>C, NM_001394965.1:c.1036A>C, NM_001394966.1:c.1036A>C, NM_001394967.1:c.949A>C, XM_047447507.1:c.1036A>C, XM_047447506.1:c.949A>C, NM_001394968.1:c.1036A>C, XM_047447508.1:c.1036A>C, XM_047447509.1:c.1036A>C, NM_001394969.1:c.949A>C, XM_047447510.1:c.1036A>C, XM_047447511.1:c.1036A>C, XM_047447512.1:c.949A>C, NP_689747.3:p.Asn346His, XP_006713064.1:p.Asn346His, XP_006713062.1:p.Asn346His, NP_955379.2:p.Asn346His, XP_016861263.1:p.Asn346His, XP_016861251.1:p.Asn346His, XP_006713061.1:p.Asn346His, XP_011531716.1:p.Asn346His, XP_016861252.1:p.Asn346His, XP_016861253.1:p.Asn346His, XP_016861254.1:p.Asn346His, XP_016861257.1:p.Asn346His, XP_047303461.1:p.Asn346His, NP_001381899.1:p.Asn346His, NP_001381892.1:p.Asn346His, NP_001381893.1:p.Asn317His, NP_001381900.1:p.Asn346His, NP_001381894.1:p.Asn346His, NP_001381895.1:p.Asn346His, NP_001381896.1:p.Asn317His, XP_047303463.1:p.Asn346His, XP_047303462.1:p.Asn317His, NP_001381897.1:p.Asn346His, XP_047303464.1:p.Asn346His, XP_047303465.1:p.Asn346His, NP_001381898.1:p.Asn317His, XP_047303466.1:p.Asn346His, XP_047303467.1:p.Asn346His, XP_047303468.1:p.Asn317His

                                        20.

                                        rs1468500883 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          3:27304829 (GRCh38)
                                          3:27346320 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:27304828:C:G
                                          Gene:
                                          NEK10 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.27304829C>G, NC_000003.11:g.27346320C>G, NM_152534.6:c.946G>C, NM_152534.5:c.946G>C, NM_152534.4:c.946G>C, NM_152534.3:c.946G>C, XM_006713001.4:c.946G>C, XM_006713001.3:c.946G>C, XM_006713001.2:c.946G>C, XM_006713001.1:c.946G>C, XM_006712999.4:c.946G>C, XM_006712999.3:c.946G>C, XM_006712999.2:c.946G>C, XM_006712999.1:c.946G>C, NM_199347.4:c.946G>C, NM_199347.3:c.946G>C, NM_199347.2:c.946G>C, XM_017005774.3:c.946G>C, XM_017005774.2:c.946G>C, XM_017005774.1:c.946G>C, XM_017005762.3:c.946G>C, XM_017005762.2:c.946G>C, XM_017005762.1:c.946G>C, XM_006712998.3:c.946G>C, XM_006712998.2:c.946G>C, XM_006712998.1:c.946G>C, XM_011533414.3:c.946G>C, XM_011533414.2:c.946G>C, XM_011533414.1:c.946G>C, XM_017005763.2:c.946G>C, XM_017005763.1:c.946G>C, XM_017005764.2:c.946G>C, XM_017005764.1:c.946G>C, XM_017005765.2:c.946G>C, XM_017005765.1:c.946G>C, XM_017005768.2:c.946G>C, XM_017005768.1:c.946G>C, XR_001740034.2:n.1182G>C, XR_001740034.1:n.1220G>C, XM_047447505.1:c.946G>C, NM_001394970.1:c.946G>C, NM_001394963.1:c.946G>C, NM_001394964.1:c.859G>C, NM_001394971.1:c.946G>C, NM_001394965.1:c.946G>C, NM_001394966.1:c.946G>C, NM_001394967.1:c.859G>C, XM_047447507.1:c.946G>C, XM_047447506.1:c.859G>C, NM_001394968.1:c.946G>C, XM_047447508.1:c.946G>C, XM_047447509.1:c.946G>C, NM_001394969.1:c.859G>C, XM_047447510.1:c.946G>C, XM_047447511.1:c.946G>C, XM_047447512.1:c.859G>C, NP_689747.3:p.Val316Leu, XP_006713064.1:p.Val316Leu, XP_006713062.1:p.Val316Leu, NP_955379.2:p.Val316Leu, XP_016861263.1:p.Val316Leu, XP_016861251.1:p.Val316Leu, XP_006713061.1:p.Val316Leu, XP_011531716.1:p.Val316Leu, XP_016861252.1:p.Val316Leu, XP_016861253.1:p.Val316Leu, XP_016861254.1:p.Val316Leu, XP_016861257.1:p.Val316Leu, XP_047303461.1:p.Val316Leu, NP_001381899.1:p.Val316Leu, NP_001381892.1:p.Val316Leu, NP_001381893.1:p.Val287Leu, NP_001381900.1:p.Val316Leu, NP_001381894.1:p.Val316Leu, NP_001381895.1:p.Val316Leu, NP_001381896.1:p.Val287Leu, XP_047303463.1:p.Val316Leu, XP_047303462.1:p.Val287Leu, NP_001381897.1:p.Val316Leu, XP_047303464.1:p.Val316Leu, XP_047303465.1:p.Val316Leu, NP_001381898.1:p.Val287Leu, XP_047303466.1:p.Val316Leu, XP_047303467.1:p.Val316Leu, XP_047303468.1:p.Val287Leu

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...