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Items: 1 to 20 of 268

1.

rs1486890829 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->GGAGTGCAGTGATGTGATCTCAGCTCACTGC [Show Flanks]
    Chromosome:
    12:118160340 (GRCh38)
    12:118598146 (GRCh37)
    Canonical SPDI:
    NC_000012.12:118160340::GGAGTGCAGTGATGTGATCTCAGCTCACTGC
    Gene:
    TAOK3 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained,inframe_indel
    HGVS:
    NC_000012.12:g.118160340_118160341insGGAGTGCAGTGATGTGATCTCAGCTCACTGC, NC_000012.11:g.118598145_118598146insGGAGTGCAGTGATGTGATCTCAGCTCACTGC, NG_051835.1:g.217605_217606insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_016281.4:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_016281.3:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346491.2:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346491.1:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346490.2:c.1674_1675insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346490.1:c.1674_1675insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346492.2:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346492.1:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346488.2:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346488.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346487.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346487.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346489.2:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346489.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346493.2:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346493.1:c.1647_1648insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346494.2:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346494.1:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346495.2:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346495.1:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346496.2:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346496.1:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346497.2:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, NM_001346497.1:c.777_778insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_006719445.4:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_006719445.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_006719445.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_006719445.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019408.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019408.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019408.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019409.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019409.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019409.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019410.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019410.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_017019410.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_005253898.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_005253898.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_005253898.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_011538437.3:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_011538437.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_011538437.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_024449010.2:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_024449010.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428954.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428941.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428947.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428942.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428943.1:c.2184_2185insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428950.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428953.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428951.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428952.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428944.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428946.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428945.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, XM_047428948.1:c.2157_2158insGCAGTGAGCTGAGATCACATCACTGCACTCC, NP_057365.3:p.Lys720delinsAlaValSerTer, NP_001333420.1:p.Lys550delinsAlaValSerTer, NP_001333419.1:p.Lys559delinsAlaValSerTer, NP_001333421.1:p.Lys550delinsAlaValSerTer, NP_001333417.1:p.Lys720delinsAlaValSerTer, NP_001333416.1:p.Lys729delinsAlaValSerTer, NP_001333418.1:p.Lys720delinsAlaValSerTer, NP_001333422.1:p.Lys550delinsAlaValSerTer, NP_001333423.1:p.Lys260delinsAlaValSerTer, NP_001333424.1:p.Lys260delinsAlaValSerTer, NP_001333425.1:p.Lys260delinsAlaValSerTer, NP_001333426.1:p.Lys260delinsAlaValSerTer, XP_006719508.1:p.Lys729delinsAlaValSerTer, XP_016874897.1:p.Lys729delinsAlaValSerTer, XP_016874898.1:p.Lys729delinsAlaValSerTer, XP_016874899.1:p.Lys729delinsAlaValSerTer, XP_005253955.1:p.Lys729delinsAlaValSerTer, XP_011536739.1:p.Lys729delinsAlaValSerTer, XP_024304778.1:p.Lys729delinsAlaValSerTer, XP_047284910.1:p.Lys720delinsAlaValSerTer, XP_047284897.1:p.Lys729delinsAlaValSerTer, XP_047284903.1:p.Lys720delinsAlaValSerTer, XP_047284898.1:p.Lys729delinsAlaValSerTer, XP_047284899.1:p.Lys729delinsAlaValSerTer, XP_047284906.1:p.Lys720delinsAlaValSerTer, XP_047284909.1:p.Lys720delinsAlaValSerTer, XP_047284907.1:p.Lys720delinsAlaValSerTer, XP_047284908.1:p.Lys720delinsAlaValSerTer, XP_047284900.1:p.Lys720delinsAlaValSerTer, XP_047284902.1:p.Lys720delinsAlaValSerTer, XP_047284901.1:p.Lys720delinsAlaValSerTer, XP_047284904.1:p.Lys720delinsAlaValSerTer

    2.

    rs1486482845 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      12:118152353 (GRCh38)
      12:118590158 (GRCh37)
      Canonical SPDI:
      NC_000012.12:118152352:C:A
      Gene:
      TAOK3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.118152353C>A, NC_000012.11:g.118590158C>A, NG_051835.1:g.225593G>T, NM_016281.4:c.2409G>T, NM_016281.3:c.2409G>T, NM_001346491.2:c.1899G>T, NM_001346491.1:c.1899G>T, NM_001346490.2:c.1926G>T, NM_001346490.1:c.1926G>T, NM_001346492.2:c.1899G>T, NM_001346492.1:c.1899G>T, NM_001346488.2:c.2409G>T, NM_001346488.1:c.2409G>T, NM_001346487.2:c.2436G>T, NM_001346487.1:c.2436G>T, NM_001346489.2:c.2409G>T, NM_001346489.1:c.2409G>T, NM_001346493.2:c.1899G>T, NM_001346493.1:c.1899G>T, NM_001346494.2:c.1029G>T, NM_001346494.1:c.1029G>T, NM_001346495.2:c.1029G>T, NM_001346495.1:c.1029G>T, NM_001346496.2:c.1029G>T, NM_001346496.1:c.1029G>T, NM_001346497.2:c.1029G>T, NM_001346497.1:c.1029G>T, XM_006719445.4:c.2436G>T, XM_006719445.3:c.2436G>T, XM_006719445.2:c.2436G>T, XM_006719445.1:c.2436G>T, XM_017019408.3:c.2436G>T, XM_017019408.2:c.2436G>T, XM_017019408.1:c.2436G>T, XM_017019409.3:c.2436G>T, XM_017019409.2:c.2436G>T, XM_017019409.1:c.2436G>T, XM_017019410.3:c.2436G>T, XM_017019410.2:c.2436G>T, XM_017019410.1:c.2436G>T, XM_005253898.3:c.2436G>T, XM_005253898.2:c.2436G>T, XM_005253898.1:c.2436G>T, XM_011538437.3:c.2436G>T, XM_011538437.2:c.2436G>T, XM_011538437.1:c.2436G>T, XM_024449010.2:c.2436G>T, XM_024449010.1:c.2436G>T, XM_047428954.1:c.2409G>T, XM_047428941.1:c.2436G>T, XM_047428947.1:c.2409G>T, XM_047428942.1:c.2436G>T, XM_047428943.1:c.2436G>T, XM_047428950.1:c.2409G>T, XM_047428953.1:c.2409G>T, XM_047428951.1:c.2409G>T, XM_047428952.1:c.2409G>T, XM_047428944.1:c.2409G>T, XM_047428946.1:c.2409G>T, XM_047428945.1:c.2409G>T, XM_047428948.1:c.2409G>T, NP_057365.3:p.Gln803His, NP_001333420.1:p.Gln633His, NP_001333419.1:p.Gln642His, NP_001333421.1:p.Gln633His, NP_001333417.1:p.Gln803His, NP_001333416.1:p.Gln812His, NP_001333418.1:p.Gln803His, NP_001333422.1:p.Gln633His, NP_001333423.1:p.Gln343His, NP_001333424.1:p.Gln343His, NP_001333425.1:p.Gln343His, NP_001333426.1:p.Gln343His, XP_006719508.1:p.Gln812His, XP_016874897.1:p.Gln812His, XP_016874898.1:p.Gln812His, XP_016874899.1:p.Gln812His, XP_005253955.1:p.Gln812His, XP_011536739.1:p.Gln812His, XP_024304778.1:p.Gln812His, XP_047284910.1:p.Gln803His, XP_047284897.1:p.Gln812His, XP_047284903.1:p.Gln803His, XP_047284898.1:p.Gln812His, XP_047284899.1:p.Gln812His, XP_047284906.1:p.Gln803His, XP_047284909.1:p.Gln803His, XP_047284907.1:p.Gln803His, XP_047284908.1:p.Gln803His, XP_047284900.1:p.Gln803His, XP_047284902.1:p.Gln803His, XP_047284901.1:p.Gln803His, XP_047284904.1:p.Gln803His

      3.

      rs1486057400 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:118152309 (GRCh38)
        12:118590114 (GRCh37)
        Canonical SPDI:
        NC_000012.12:118152308:A:G
        Gene:
        TAOK3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000012.12:g.118152309A>G, NC_000012.11:g.118590114A>G, NG_051835.1:g.225637T>C, NM_016281.4:c.2453T>C, NM_016281.3:c.2453T>C, NM_001346491.2:c.1943T>C, NM_001346491.1:c.1943T>C, NM_001346490.2:c.1970T>C, NM_001346490.1:c.1970T>C, NM_001346492.2:c.1943T>C, NM_001346492.1:c.1943T>C, NM_001346488.2:c.2453T>C, NM_001346488.1:c.2453T>C, NM_001346487.2:c.2480T>C, NM_001346487.1:c.2480T>C, NM_001346489.2:c.2453T>C, NM_001346489.1:c.2453T>C, NM_001346493.2:c.1943T>C, NM_001346493.1:c.1943T>C, NM_001346494.2:c.1073T>C, NM_001346494.1:c.1073T>C, NM_001346495.2:c.1073T>C, NM_001346495.1:c.1073T>C, NM_001346496.2:c.1073T>C, NM_001346496.1:c.1073T>C, NM_001346497.2:c.1073T>C, NM_001346497.1:c.1073T>C, XM_006719445.4:c.2480T>C, XM_006719445.3:c.2480T>C, XM_006719445.2:c.2480T>C, XM_006719445.1:c.2480T>C, XM_017019408.3:c.2480T>C, XM_017019408.2:c.2480T>C, XM_017019408.1:c.2480T>C, XM_017019409.3:c.2480T>C, XM_017019409.2:c.2480T>C, XM_017019409.1:c.2480T>C, XM_017019410.3:c.2480T>C, XM_017019410.2:c.2480T>C, XM_017019410.1:c.2480T>C, XM_005253898.3:c.2480T>C, XM_005253898.2:c.2480T>C, XM_005253898.1:c.2480T>C, XM_011538437.3:c.2480T>C, XM_011538437.2:c.2480T>C, XM_011538437.1:c.2480T>C, XM_024449010.2:c.2480T>C, XM_024449010.1:c.2480T>C, XM_047428954.1:c.2453T>C, XM_047428941.1:c.2480T>C, XM_047428947.1:c.2453T>C, XM_047428942.1:c.2480T>C, XM_047428943.1:c.2480T>C, XM_047428950.1:c.2453T>C, XM_047428953.1:c.2453T>C, XM_047428951.1:c.2453T>C, XM_047428952.1:c.2453T>C, XM_047428944.1:c.2453T>C, XM_047428946.1:c.2453T>C, XM_047428945.1:c.2453T>C, XM_047428948.1:c.2453T>C, NP_057365.3:p.Met818Thr, NP_001333420.1:p.Met648Thr, NP_001333419.1:p.Met657Thr, NP_001333421.1:p.Met648Thr, NP_001333417.1:p.Met818Thr, NP_001333416.1:p.Met827Thr, NP_001333418.1:p.Met818Thr, NP_001333422.1:p.Met648Thr, NP_001333423.1:p.Met358Thr, NP_001333424.1:p.Met358Thr, NP_001333425.1:p.Met358Thr, NP_001333426.1:p.Met358Thr, XP_006719508.1:p.Met827Thr, XP_016874897.1:p.Met827Thr, XP_016874898.1:p.Met827Thr, XP_016874899.1:p.Met827Thr, XP_005253955.1:p.Met827Thr, XP_011536739.1:p.Met827Thr, XP_024304778.1:p.Met827Thr, XP_047284910.1:p.Met818Thr, XP_047284897.1:p.Met827Thr, XP_047284903.1:p.Met818Thr, XP_047284898.1:p.Met827Thr, XP_047284899.1:p.Met827Thr, XP_047284906.1:p.Met818Thr, XP_047284909.1:p.Met818Thr, XP_047284907.1:p.Met818Thr, XP_047284908.1:p.Met818Thr, XP_047284900.1:p.Met818Thr, XP_047284902.1:p.Met818Thr, XP_047284901.1:p.Met818Thr, XP_047284904.1:p.Met818Thr

        4.

        rs1484668608 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:118151143 (GRCh38)
          12:118588948 (GRCh37)
          Canonical SPDI:
          NC_000012.12:118151142:C:T
          Gene:
          TAOK3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.118151143C>T, NC_000012.11:g.118588948C>T, NG_051835.1:g.226803G>A, NM_016281.4:c.2551G>A, NM_016281.3:c.2551G>A, NM_001346491.2:c.2041G>A, NM_001346491.1:c.2041G>A, NM_001346490.2:c.2068G>A, NM_001346490.1:c.2068G>A, NM_001346492.2:c.2041G>A, NM_001346492.1:c.2041G>A, NM_001346488.2:c.2551G>A, NM_001346488.1:c.2551G>A, NM_001346487.2:c.2578G>A, NM_001346487.1:c.2578G>A, NM_001346489.2:c.2551G>A, NM_001346489.1:c.2551G>A, NM_001346493.2:c.2041G>A, NM_001346493.1:c.2041G>A, NM_001346494.2:c.1171G>A, NM_001346494.1:c.1171G>A, NM_001346495.2:c.1171G>A, NM_001346495.1:c.1171G>A, NM_001346496.2:c.1171G>A, NM_001346496.1:c.1171G>A, NM_001346497.2:c.1171G>A, NM_001346497.1:c.1171G>A, XM_006719445.4:c.2578G>A, XM_006719445.3:c.2578G>A, XM_006719445.2:c.2578G>A, XM_006719445.1:c.2578G>A, XM_017019408.3:c.2578G>A, XM_017019408.2:c.2578G>A, XM_017019408.1:c.2578G>A, XM_017019409.3:c.2578G>A, XM_017019409.2:c.2578G>A, XM_017019409.1:c.2578G>A, XM_017019410.3:c.2578G>A, XM_017019410.2:c.2578G>A, XM_017019410.1:c.2578G>A, XM_005253898.3:c.2578G>A, XM_005253898.2:c.2578G>A, XM_005253898.1:c.2578G>A, XM_011538437.3:c.2578G>A, XM_011538437.2:c.2578G>A, XM_011538437.1:c.2578G>A, XM_024449010.2:c.2578G>A, XM_024449010.1:c.2578G>A, XM_047428954.1:c.2551G>A, XM_047428941.1:c.2578G>A, XM_047428947.1:c.2551G>A, XM_047428942.1:c.2578G>A, XM_047428943.1:c.2578G>A, XM_047428950.1:c.2551G>A, XM_047428953.1:c.2551G>A, XM_047428951.1:c.2551G>A, XM_047428952.1:c.2551G>A, XM_047428944.1:c.2551G>A, XM_047428946.1:c.2551G>A, XM_047428945.1:c.2551G>A, XM_047428948.1:c.2551G>A, NP_057365.3:p.Ala851Thr, NP_001333420.1:p.Ala681Thr, NP_001333419.1:p.Ala690Thr, NP_001333421.1:p.Ala681Thr, NP_001333417.1:p.Ala851Thr, NP_001333416.1:p.Ala860Thr, NP_001333418.1:p.Ala851Thr, NP_001333422.1:p.Ala681Thr, NP_001333423.1:p.Ala391Thr, NP_001333424.1:p.Ala391Thr, NP_001333425.1:p.Ala391Thr, NP_001333426.1:p.Ala391Thr, XP_006719508.1:p.Ala860Thr, XP_016874897.1:p.Ala860Thr, XP_016874898.1:p.Ala860Thr, XP_016874899.1:p.Ala860Thr, XP_005253955.1:p.Ala860Thr, XP_011536739.1:p.Ala860Thr, XP_024304778.1:p.Ala860Thr, XP_047284910.1:p.Ala851Thr, XP_047284897.1:p.Ala860Thr, XP_047284903.1:p.Ala851Thr, XP_047284898.1:p.Ala860Thr, XP_047284899.1:p.Ala860Thr, XP_047284906.1:p.Ala851Thr, XP_047284909.1:p.Ala851Thr, XP_047284907.1:p.Ala851Thr, XP_047284908.1:p.Ala851Thr, XP_047284900.1:p.Ala851Thr, XP_047284902.1:p.Ala851Thr, XP_047284901.1:p.Ala851Thr, XP_047284904.1:p.Ala851Thr

          5.

          rs1481262579 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            12:118160151 (GRCh38)
            12:118597956 (GRCh37)
            Canonical SPDI:
            NC_000012.12:118160150:G:C
            Gene:
            TAOK3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.118160151G>C, NC_000012.11:g.118597956G>C, NG_051835.1:g.217795C>G, NM_016281.4:c.2347C>G, NM_016281.3:c.2347C>G, NM_001346491.2:c.1837C>G, NM_001346491.1:c.1837C>G, NM_001346490.2:c.1864C>G, NM_001346490.1:c.1864C>G, NM_001346492.2:c.1837C>G, NM_001346492.1:c.1837C>G, NM_001346488.2:c.2347C>G, NM_001346488.1:c.2347C>G, NM_001346487.2:c.2374C>G, NM_001346487.1:c.2374C>G, NM_001346489.2:c.2347C>G, NM_001346489.1:c.2347C>G, NM_001346493.2:c.1837C>G, NM_001346493.1:c.1837C>G, NM_001346494.2:c.967C>G, NM_001346494.1:c.967C>G, NM_001346495.2:c.967C>G, NM_001346495.1:c.967C>G, NM_001346496.2:c.967C>G, NM_001346496.1:c.967C>G, NM_001346497.2:c.967C>G, NM_001346497.1:c.967C>G, XM_006719445.4:c.2374C>G, XM_006719445.3:c.2374C>G, XM_006719445.2:c.2374C>G, XM_006719445.1:c.2374C>G, XM_017019408.3:c.2374C>G, XM_017019408.2:c.2374C>G, XM_017019408.1:c.2374C>G, XM_017019409.3:c.2374C>G, XM_017019409.2:c.2374C>G, XM_017019409.1:c.2374C>G, XM_017019410.3:c.2374C>G, XM_017019410.2:c.2374C>G, XM_017019410.1:c.2374C>G, XM_005253898.3:c.2374C>G, XM_005253898.2:c.2374C>G, XM_005253898.1:c.2374C>G, XM_011538437.3:c.2374C>G, XM_011538437.2:c.2374C>G, XM_011538437.1:c.2374C>G, XM_024449010.2:c.2374C>G, XM_024449010.1:c.2374C>G, XM_047428954.1:c.2347C>G, XM_047428941.1:c.2374C>G, XM_047428947.1:c.2347C>G, XM_047428942.1:c.2374C>G, XM_047428943.1:c.2374C>G, XM_047428950.1:c.2347C>G, XM_047428953.1:c.2347C>G, XM_047428951.1:c.2347C>G, XM_047428952.1:c.2347C>G, XM_047428944.1:c.2347C>G, XM_047428946.1:c.2347C>G, XM_047428945.1:c.2347C>G, XM_047428948.1:c.2347C>G, NP_057365.3:p.Gln783Glu, NP_001333420.1:p.Gln613Glu, NP_001333419.1:p.Gln622Glu, NP_001333421.1:p.Gln613Glu, NP_001333417.1:p.Gln783Glu, NP_001333416.1:p.Gln792Glu, NP_001333418.1:p.Gln783Glu, NP_001333422.1:p.Gln613Glu, NP_001333423.1:p.Gln323Glu, NP_001333424.1:p.Gln323Glu, NP_001333425.1:p.Gln323Glu, NP_001333426.1:p.Gln323Glu, XP_006719508.1:p.Gln792Glu, XP_016874897.1:p.Gln792Glu, XP_016874898.1:p.Gln792Glu, XP_016874899.1:p.Gln792Glu, XP_005253955.1:p.Gln792Glu, XP_011536739.1:p.Gln792Glu, XP_024304778.1:p.Gln792Glu, XP_047284910.1:p.Gln783Glu, XP_047284897.1:p.Gln792Glu, XP_047284903.1:p.Gln783Glu, XP_047284898.1:p.Gln792Glu, XP_047284899.1:p.Gln792Glu, XP_047284906.1:p.Gln783Glu, XP_047284909.1:p.Gln783Glu, XP_047284907.1:p.Gln783Glu, XP_047284908.1:p.Gln783Glu, XP_047284900.1:p.Gln783Glu, XP_047284902.1:p.Gln783Glu, XP_047284901.1:p.Gln783Glu, XP_047284904.1:p.Gln783Glu

            6.

            rs1466554253 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:118161925 (GRCh38)
              12:118599730 (GRCh37)
              Canonical SPDI:
              NC_000012.12:118161924:G:C
              Gene:
              TAOK3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.118161925G>C, NC_000012.11:g.118599730G>C, NG_051835.1:g.216021C>G, NM_016281.4:c.2002C>G, NM_016281.3:c.2002C>G, NM_001346491.2:c.1492C>G, NM_001346491.1:c.1492C>G, NM_001346490.2:c.1519C>G, NM_001346490.1:c.1519C>G, NM_001346492.2:c.1492C>G, NM_001346492.1:c.1492C>G, NM_001346488.2:c.2002C>G, NM_001346488.1:c.2002C>G, NM_001346487.2:c.2029C>G, NM_001346487.1:c.2029C>G, NM_001346489.2:c.2002C>G, NM_001346489.1:c.2002C>G, NM_001346493.2:c.1492C>G, NM_001346493.1:c.1492C>G, NM_001346494.2:c.622C>G, NM_001346494.1:c.622C>G, NM_001346495.2:c.622C>G, NM_001346495.1:c.622C>G, NM_001346496.2:c.622C>G, NM_001346496.1:c.622C>G, NM_001346497.2:c.622C>G, NM_001346497.1:c.622C>G, XM_006719445.4:c.2029C>G, XM_006719445.3:c.2029C>G, XM_006719445.2:c.2029C>G, XM_006719445.1:c.2029C>G, XM_017019408.3:c.2029C>G, XM_017019408.2:c.2029C>G, XM_017019408.1:c.2029C>G, XM_017019409.3:c.2029C>G, XM_017019409.2:c.2029C>G, XM_017019409.1:c.2029C>G, XM_017019410.3:c.2029C>G, XM_017019410.2:c.2029C>G, XM_017019410.1:c.2029C>G, XM_005253898.3:c.2029C>G, XM_005253898.2:c.2029C>G, XM_005253898.1:c.2029C>G, XM_011538437.3:c.2029C>G, XM_011538437.2:c.2029C>G, XM_011538437.1:c.2029C>G, XM_024449010.2:c.2029C>G, XM_024449010.1:c.2029C>G, XM_047428954.1:c.2002C>G, XM_047428941.1:c.2029C>G, XM_047428947.1:c.2002C>G, XM_047428942.1:c.2029C>G, XM_047428943.1:c.2029C>G, XM_047428950.1:c.2002C>G, XM_047428953.1:c.2002C>G, XM_047428951.1:c.2002C>G, XM_047428952.1:c.2002C>G, XM_047428944.1:c.2002C>G, XM_047428946.1:c.2002C>G, XM_047428945.1:c.2002C>G, XM_047428948.1:c.2002C>G, NP_057365.3:p.Gln668Glu, NP_001333420.1:p.Gln498Glu, NP_001333419.1:p.Gln507Glu, NP_001333421.1:p.Gln498Glu, NP_001333417.1:p.Gln668Glu, NP_001333416.1:p.Gln677Glu, NP_001333418.1:p.Gln668Glu, NP_001333422.1:p.Gln498Glu, NP_001333423.1:p.Gln208Glu, NP_001333424.1:p.Gln208Glu, NP_001333425.1:p.Gln208Glu, NP_001333426.1:p.Gln208Glu, XP_006719508.1:p.Gln677Glu, XP_016874897.1:p.Gln677Glu, XP_016874898.1:p.Gln677Glu, XP_016874899.1:p.Gln677Glu, XP_005253955.1:p.Gln677Glu, XP_011536739.1:p.Gln677Glu, XP_024304778.1:p.Gln677Glu, XP_047284910.1:p.Gln668Glu, XP_047284897.1:p.Gln677Glu, XP_047284903.1:p.Gln668Glu, XP_047284898.1:p.Gln677Glu, XP_047284899.1:p.Gln677Glu, XP_047284906.1:p.Gln668Glu, XP_047284909.1:p.Gln668Glu, XP_047284907.1:p.Gln668Glu, XP_047284908.1:p.Gln668Glu, XP_047284900.1:p.Gln668Glu, XP_047284902.1:p.Gln668Glu, XP_047284901.1:p.Gln668Glu, XP_047284904.1:p.Gln668Glu

              7.

              rs1464175261 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:118151025 (GRCh38)
                12:118588830 (GRCh37)
                Canonical SPDI:
                NC_000012.12:118151024:A:G
                Gene:
                TAOK3 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.118151025A>G, NC_000012.11:g.118588830A>G, NG_051835.1:g.226921T>C, NM_016281.4:c.2669T>C, NM_016281.3:c.2669T>C, NM_001346491.2:c.2159T>C, NM_001346491.1:c.2159T>C, NM_001346490.2:c.2186T>C, NM_001346490.1:c.2186T>C, NM_001346492.2:c.2159T>C, NM_001346492.1:c.2159T>C, NM_001346488.2:c.2669T>C, NM_001346488.1:c.2669T>C, NM_001346487.2:c.2696T>C, NM_001346487.1:c.2696T>C, NM_001346489.2:c.2669T>C, NM_001346489.1:c.2669T>C, NM_001346494.2:c.1289T>C, NM_001346494.1:c.1289T>C, NM_001346495.2:c.1289T>C, NM_001346495.1:c.1289T>C, XM_006719445.4:c.2696T>C, XM_006719445.3:c.2696T>C, XM_006719445.2:c.2696T>C, XM_006719445.1:c.2696T>C, XM_017019408.3:c.2696T>C, XM_017019408.2:c.2696T>C, XM_017019408.1:c.2696T>C, XM_017019409.3:c.2696T>C, XM_017019409.2:c.2696T>C, XM_017019409.1:c.2696T>C, XM_017019410.3:c.2696T>C, XM_017019410.2:c.2696T>C, XM_017019410.1:c.2696T>C, XM_005253898.3:c.2696T>C, XM_005253898.2:c.2696T>C, XM_005253898.1:c.2696T>C, XM_011538437.3:c.2696T>C, XM_011538437.2:c.2696T>C, XM_011538437.1:c.2696T>C, XM_024449010.2:c.2696T>C, XM_024449010.1:c.2696T>C, XM_047428954.1:c.2669T>C, XM_047428941.1:c.2696T>C, XM_047428947.1:c.2669T>C, XM_047428942.1:c.2696T>C, XM_047428943.1:c.2696T>C, XM_047428950.1:c.2669T>C, XM_047428953.1:c.2669T>C, XM_047428951.1:c.2669T>C, XM_047428952.1:c.2669T>C, XM_047428944.1:c.2669T>C, XM_047428946.1:c.2669T>C, XM_047428945.1:c.2669T>C, XM_047428948.1:c.2669T>C, NP_057365.3:p.Leu890Ser, NP_001333420.1:p.Leu720Ser, NP_001333419.1:p.Leu729Ser, NP_001333421.1:p.Leu720Ser, NP_001333417.1:p.Leu890Ser, NP_001333416.1:p.Leu899Ser, NP_001333418.1:p.Leu890Ser, NP_001333423.1:p.Leu430Ser, NP_001333424.1:p.Leu430Ser, XP_006719508.1:p.Leu899Ser, XP_016874897.1:p.Leu899Ser, XP_016874898.1:p.Leu899Ser, XP_016874899.1:p.Leu899Ser, XP_005253955.1:p.Leu899Ser, XP_011536739.1:p.Leu899Ser, XP_024304778.1:p.Leu899Ser, XP_047284910.1:p.Leu890Ser, XP_047284897.1:p.Leu899Ser, XP_047284903.1:p.Leu890Ser, XP_047284898.1:p.Leu899Ser, XP_047284899.1:p.Leu899Ser, XP_047284906.1:p.Leu890Ser, XP_047284909.1:p.Leu890Ser, XP_047284907.1:p.Leu890Ser, XP_047284908.1:p.Leu890Ser, XP_047284900.1:p.Leu890Ser, XP_047284902.1:p.Leu890Ser, XP_047284901.1:p.Leu890Ser, XP_047284904.1:p.Leu890Ser

                8.

                rs1460548340 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  12:118161842 (GRCh38)
                  12:118599647 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:118161841:T:G
                  Gene:
                  TAOK3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.118161842T>G, NC_000012.11:g.118599647T>G, NG_051835.1:g.216104A>C, NM_016281.4:c.2085A>C, NM_016281.3:c.2085A>C, NM_001346491.2:c.1575A>C, NM_001346491.1:c.1575A>C, NM_001346490.2:c.1602A>C, NM_001346490.1:c.1602A>C, NM_001346492.2:c.1575A>C, NM_001346492.1:c.1575A>C, NM_001346488.2:c.2085A>C, NM_001346488.1:c.2085A>C, NM_001346487.2:c.2112A>C, NM_001346487.1:c.2112A>C, NM_001346489.2:c.2085A>C, NM_001346489.1:c.2085A>C, NM_001346493.2:c.1575A>C, NM_001346493.1:c.1575A>C, NM_001346494.2:c.705A>C, NM_001346494.1:c.705A>C, NM_001346495.2:c.705A>C, NM_001346495.1:c.705A>C, NM_001346496.2:c.705A>C, NM_001346496.1:c.705A>C, NM_001346497.2:c.705A>C, NM_001346497.1:c.705A>C, XM_006719445.4:c.2112A>C, XM_006719445.3:c.2112A>C, XM_006719445.2:c.2112A>C, XM_006719445.1:c.2112A>C, XM_017019408.3:c.2112A>C, XM_017019408.2:c.2112A>C, XM_017019408.1:c.2112A>C, XM_017019409.3:c.2112A>C, XM_017019409.2:c.2112A>C, XM_017019409.1:c.2112A>C, XM_017019410.3:c.2112A>C, XM_017019410.2:c.2112A>C, XM_017019410.1:c.2112A>C, XM_005253898.3:c.2112A>C, XM_005253898.2:c.2112A>C, XM_005253898.1:c.2112A>C, XM_011538437.3:c.2112A>C, XM_011538437.2:c.2112A>C, XM_011538437.1:c.2112A>C, XM_024449010.2:c.2112A>C, XM_024449010.1:c.2112A>C, XM_047428954.1:c.2085A>C, XM_047428941.1:c.2112A>C, XM_047428947.1:c.2085A>C, XM_047428942.1:c.2112A>C, XM_047428943.1:c.2112A>C, XM_047428950.1:c.2085A>C, XM_047428953.1:c.2085A>C, XM_047428951.1:c.2085A>C, XM_047428952.1:c.2085A>C, XM_047428944.1:c.2085A>C, XM_047428946.1:c.2085A>C, XM_047428945.1:c.2085A>C, XM_047428948.1:c.2085A>C, NP_057365.3:p.Arg695Ser, NP_001333420.1:p.Arg525Ser, NP_001333419.1:p.Arg534Ser, NP_001333421.1:p.Arg525Ser, NP_001333417.1:p.Arg695Ser, NP_001333416.1:p.Arg704Ser, NP_001333418.1:p.Arg695Ser, NP_001333422.1:p.Arg525Ser, NP_001333423.1:p.Arg235Ser, NP_001333424.1:p.Arg235Ser, NP_001333425.1:p.Arg235Ser, NP_001333426.1:p.Arg235Ser, XP_006719508.1:p.Arg704Ser, XP_016874897.1:p.Arg704Ser, XP_016874898.1:p.Arg704Ser, XP_016874899.1:p.Arg704Ser, XP_005253955.1:p.Arg704Ser, XP_011536739.1:p.Arg704Ser, XP_024304778.1:p.Arg704Ser, XP_047284910.1:p.Arg695Ser, XP_047284897.1:p.Arg704Ser, XP_047284903.1:p.Arg695Ser, XP_047284898.1:p.Arg704Ser, XP_047284899.1:p.Arg704Ser, XP_047284906.1:p.Arg695Ser, XP_047284909.1:p.Arg695Ser, XP_047284907.1:p.Arg695Ser, XP_047284908.1:p.Arg695Ser, XP_047284900.1:p.Arg695Ser, XP_047284902.1:p.Arg695Ser, XP_047284901.1:p.Arg695Ser, XP_047284904.1:p.Arg695Ser

                  9.

                  rs1459592765 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:118161931 (GRCh38)
                    12:118599736 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:118161930:T:C
                    Gene:
                    TAOK3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000024/6 (GnomAD_exomes)
                    C=0.000036/5 (GnomAD)
                    C=0.000049/13 (TOPMED)
                    HGVS:
                    NC_000012.12:g.118161931T>C, NC_000012.11:g.118599736T>C, NG_051835.1:g.216015A>G, NM_016281.4:c.1996A>G, NM_016281.3:c.1996A>G, NM_001346491.2:c.1486A>G, NM_001346491.1:c.1486A>G, NM_001346490.2:c.1513A>G, NM_001346490.1:c.1513A>G, NM_001346492.2:c.1486A>G, NM_001346492.1:c.1486A>G, NM_001346488.2:c.1996A>G, NM_001346488.1:c.1996A>G, NM_001346487.2:c.2023A>G, NM_001346487.1:c.2023A>G, NM_001346489.2:c.1996A>G, NM_001346489.1:c.1996A>G, NM_001346493.2:c.1486A>G, NM_001346493.1:c.1486A>G, NM_001346494.2:c.616A>G, NM_001346494.1:c.616A>G, NM_001346495.2:c.616A>G, NM_001346495.1:c.616A>G, NM_001346496.2:c.616A>G, NM_001346496.1:c.616A>G, NM_001346497.2:c.616A>G, NM_001346497.1:c.616A>G, XM_006719445.4:c.2023A>G, XM_006719445.3:c.2023A>G, XM_006719445.2:c.2023A>G, XM_006719445.1:c.2023A>G, XM_017019408.3:c.2023A>G, XM_017019408.2:c.2023A>G, XM_017019408.1:c.2023A>G, XM_017019409.3:c.2023A>G, XM_017019409.2:c.2023A>G, XM_017019409.1:c.2023A>G, XM_017019410.3:c.2023A>G, XM_017019410.2:c.2023A>G, XM_017019410.1:c.2023A>G, XM_005253898.3:c.2023A>G, XM_005253898.2:c.2023A>G, XM_005253898.1:c.2023A>G, XM_011538437.3:c.2023A>G, XM_011538437.2:c.2023A>G, XM_011538437.1:c.2023A>G, XM_024449010.2:c.2023A>G, XM_024449010.1:c.2023A>G, XM_047428954.1:c.1996A>G, XM_047428941.1:c.2023A>G, XM_047428947.1:c.1996A>G, XM_047428942.1:c.2023A>G, XM_047428943.1:c.2023A>G, XM_047428950.1:c.1996A>G, XM_047428953.1:c.1996A>G, XM_047428951.1:c.1996A>G, XM_047428952.1:c.1996A>G, XM_047428944.1:c.1996A>G, XM_047428946.1:c.1996A>G, XM_047428945.1:c.1996A>G, XM_047428948.1:c.1996A>G, NP_057365.3:p.Thr666Ala, NP_001333420.1:p.Thr496Ala, NP_001333419.1:p.Thr505Ala, NP_001333421.1:p.Thr496Ala, NP_001333417.1:p.Thr666Ala, NP_001333416.1:p.Thr675Ala, NP_001333418.1:p.Thr666Ala, NP_001333422.1:p.Thr496Ala, NP_001333423.1:p.Thr206Ala, NP_001333424.1:p.Thr206Ala, NP_001333425.1:p.Thr206Ala, NP_001333426.1:p.Thr206Ala, XP_006719508.1:p.Thr675Ala, XP_016874897.1:p.Thr675Ala, XP_016874898.1:p.Thr675Ala, XP_016874899.1:p.Thr675Ala, XP_005253955.1:p.Thr675Ala, XP_011536739.1:p.Thr675Ala, XP_024304778.1:p.Thr675Ala, XP_047284910.1:p.Thr666Ala, XP_047284897.1:p.Thr675Ala, XP_047284903.1:p.Thr666Ala, XP_047284898.1:p.Thr675Ala, XP_047284899.1:p.Thr675Ala, XP_047284906.1:p.Thr666Ala, XP_047284909.1:p.Thr666Ala, XP_047284907.1:p.Thr666Ala, XP_047284908.1:p.Thr666Ala, XP_047284900.1:p.Thr666Ala, XP_047284902.1:p.Thr666Ala, XP_047284901.1:p.Thr666Ala, XP_047284904.1:p.Thr666Ala

                    10.

                    rs1458012782 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CATT>- [Show Flanks]
                      Chromosome:
                      12:118172655 (GRCh38)
                      12:118610460 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:118172649:TCATTCATT:TCATT
                      Gene:
                      TAOK3 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.118172651CATT[1], NC_000012.11:g.118610456CATT[1], NG_051835.1:g.205289ATGA[1], NM_016281.4:c.1703_1706del, NM_016281.3:c.1703_1706del, NM_001346491.2:c.1193_1196del, NM_001346491.1:c.1193_1196del, NM_001346490.2:c.1220_1223del, NM_001346490.1:c.1220_1223del, NM_001346492.2:c.1193_1196del, NM_001346492.1:c.1193_1196del, NM_001346488.2:c.1703_1706del, NM_001346488.1:c.1703_1706del, NM_001346487.2:c.1730_1733del, NM_001346487.1:c.1730_1733del, NM_001346489.2:c.1703_1706del, NM_001346489.1:c.1703_1706del, NM_001346493.2:c.1193_1196del, NM_001346493.1:c.1193_1196del, NM_001346494.2:c.323_326del, NM_001346494.1:c.323_326del, NM_001346495.2:c.323_326del, NM_001346495.1:c.323_326del, NM_001346496.2:c.323_326del, NM_001346496.1:c.323_326del, NM_001346497.2:c.323_326del, NM_001346497.1:c.323_326del, XM_006719445.4:c.1730_1733del, XM_006719445.3:c.1730_1733del, XM_006719445.2:c.1730_1733del, XM_006719445.1:c.1730_1733del, XM_017019408.3:c.1730_1733del, XM_017019408.2:c.1730_1733del, XM_017019408.1:c.1730_1733del, XM_017019409.3:c.1730_1733del, XM_017019409.2:c.1730_1733del, XM_017019409.1:c.1730_1733del, XM_017019410.3:c.1730_1733del, XM_017019410.2:c.1730_1733del, XM_017019410.1:c.1730_1733del, XM_005253898.3:c.1730_1733del, XM_005253898.2:c.1730_1733del, XM_005253898.1:c.1730_1733del, XM_011538437.3:c.1730_1733del, XM_011538437.2:c.1730_1733del, XM_011538437.1:c.1730_1733del, XM_024449010.2:c.1730_1733del, XM_024449010.1:c.1730_1733del, XM_047428954.1:c.1703_1706del, XM_047428941.1:c.1730_1733del, XM_047428947.1:c.1703_1706del, XM_047428942.1:c.1730_1733del, XM_047428943.1:c.1730_1733del, XM_047428950.1:c.1703_1706del, XM_047428953.1:c.1703_1706del, XM_047428951.1:c.1703_1706del, XM_047428952.1:c.1703_1706del, XM_047428944.1:c.1703_1706del, XM_047428946.1:c.1703_1706del, XM_047428945.1:c.1703_1706del, XM_047428948.1:c.1703_1706del, NP_057365.3:p.Asn568fs, NP_001333420.1:p.Asn398fs, NP_001333419.1:p.Asn407fs, NP_001333421.1:p.Asn398fs, NP_001333417.1:p.Asn568fs, NP_001333416.1:p.Asn577fs, NP_001333418.1:p.Asn568fs, NP_001333422.1:p.Asn398fs, NP_001333423.1:p.Asn108fs, NP_001333424.1:p.Asn108fs, NP_001333425.1:p.Asn108fs, NP_001333426.1:p.Asn108fs, XP_006719508.1:p.Asn577fs, XP_016874897.1:p.Asn577fs, XP_016874898.1:p.Asn577fs, XP_016874899.1:p.Asn577fs, XP_005253955.1:p.Asn577fs, XP_011536739.1:p.Asn577fs, XP_024304778.1:p.Asn577fs, XP_047284910.1:p.Asn568fs, XP_047284897.1:p.Asn577fs, XP_047284903.1:p.Asn568fs, XP_047284898.1:p.Asn577fs, XP_047284899.1:p.Asn577fs, XP_047284906.1:p.Asn568fs, XP_047284909.1:p.Asn568fs, XP_047284907.1:p.Asn568fs, XP_047284908.1:p.Asn568fs, XP_047284900.1:p.Asn568fs, XP_047284902.1:p.Asn568fs, XP_047284901.1:p.Asn568fs, XP_047284904.1:p.Asn568fs

                      11.

                      rs1455688183 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:118152329 (GRCh38)
                        12:118590134 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:118152328:G:A
                        Gene:
                        TAOK3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        NC_000012.12:g.118152329G>A, NC_000012.11:g.118590134G>A, NG_051835.1:g.225617C>T, NM_016281.4:c.2433C>T, NM_016281.3:c.2433C>T, NM_001346491.2:c.1923C>T, NM_001346491.1:c.1923C>T, NM_001346490.2:c.1950C>T, NM_001346490.1:c.1950C>T, NM_001346492.2:c.1923C>T, NM_001346492.1:c.1923C>T, NM_001346488.2:c.2433C>T, NM_001346488.1:c.2433C>T, NM_001346487.2:c.2460C>T, NM_001346487.1:c.2460C>T, NM_001346489.2:c.2433C>T, NM_001346489.1:c.2433C>T, NM_001346493.2:c.1923C>T, NM_001346493.1:c.1923C>T, NM_001346494.2:c.1053C>T, NM_001346494.1:c.1053C>T, NM_001346495.2:c.1053C>T, NM_001346495.1:c.1053C>T, NM_001346496.2:c.1053C>T, NM_001346496.1:c.1053C>T, NM_001346497.2:c.1053C>T, NM_001346497.1:c.1053C>T, XM_006719445.4:c.2460C>T, XM_006719445.3:c.2460C>T, XM_006719445.2:c.2460C>T, XM_006719445.1:c.2460C>T, XM_017019408.3:c.2460C>T, XM_017019408.2:c.2460C>T, XM_017019408.1:c.2460C>T, XM_017019409.3:c.2460C>T, XM_017019409.2:c.2460C>T, XM_017019409.1:c.2460C>T, XM_017019410.3:c.2460C>T, XM_017019410.2:c.2460C>T, XM_017019410.1:c.2460C>T, XM_005253898.3:c.2460C>T, XM_005253898.2:c.2460C>T, XM_005253898.1:c.2460C>T, XM_011538437.3:c.2460C>T, XM_011538437.2:c.2460C>T, XM_011538437.1:c.2460C>T, XM_024449010.2:c.2460C>T, XM_024449010.1:c.2460C>T, XM_047428954.1:c.2433C>T, XM_047428941.1:c.2460C>T, XM_047428947.1:c.2433C>T, XM_047428942.1:c.2460C>T, XM_047428943.1:c.2460C>T, XM_047428950.1:c.2433C>T, XM_047428953.1:c.2433C>T, XM_047428951.1:c.2433C>T, XM_047428952.1:c.2433C>T, XM_047428944.1:c.2433C>T, XM_047428946.1:c.2433C>T, XM_047428945.1:c.2433C>T, XM_047428948.1:c.2433C>T

                        12.

                        rs1444485447 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:118181462 (GRCh38)
                          12:118619267 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:118181461:T:C
                          Gene:
                          TAOK3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000012.12:g.118181462T>C, NC_000012.11:g.118619267T>C, NG_051835.1:g.196484A>G, NM_016281.4:c.1475A>G, NM_016281.3:c.1475A>G, NM_001346491.2:c.965A>G, NM_001346491.1:c.965A>G, NM_001346490.2:c.992A>G, NM_001346490.1:c.992A>G, NM_001346492.2:c.965A>G, NM_001346492.1:c.965A>G, NM_001346488.2:c.1475A>G, NM_001346488.1:c.1475A>G, NM_001346487.2:c.1502A>G, NM_001346487.1:c.1502A>G, NM_001346489.2:c.1475A>G, NM_001346489.1:c.1475A>G, NM_001346493.2:c.965A>G, NM_001346493.1:c.965A>G, NM_001346494.2:c.95A>G, NM_001346494.1:c.95A>G, NM_001346495.2:c.95A>G, NM_001346495.1:c.95A>G, NM_001346496.2:c.95A>G, NM_001346496.1:c.95A>G, NM_001346497.2:c.95A>G, NM_001346497.1:c.95A>G, XM_006719445.4:c.1502A>G, XM_006719445.3:c.1502A>G, XM_006719445.2:c.1502A>G, XM_006719445.1:c.1502A>G, XM_017019408.3:c.1502A>G, XM_017019408.2:c.1502A>G, XM_017019408.1:c.1502A>G, XM_017019409.3:c.1502A>G, XM_017019409.2:c.1502A>G, XM_017019409.1:c.1502A>G, XM_017019410.3:c.1502A>G, XM_017019410.2:c.1502A>G, XM_017019410.1:c.1502A>G, XM_005253898.3:c.1502A>G, XM_005253898.2:c.1502A>G, XM_005253898.1:c.1502A>G, XM_011538437.3:c.1502A>G, XM_011538437.2:c.1502A>G, XM_011538437.1:c.1502A>G, XM_024449010.2:c.1502A>G, XM_024449010.1:c.1502A>G, XM_047428954.1:c.1475A>G, XM_047428941.1:c.1502A>G, XM_047428947.1:c.1475A>G, XM_047428942.1:c.1502A>G, XM_047428943.1:c.1502A>G, XM_047428950.1:c.1475A>G, XM_047428953.1:c.1475A>G, XM_047428951.1:c.1475A>G, XM_047428952.1:c.1475A>G, XM_047428944.1:c.1475A>G, XM_047428946.1:c.1475A>G, XM_047428945.1:c.1475A>G, XM_047428948.1:c.1475A>G, NP_057365.3:p.Lys492Arg, NP_001333420.1:p.Lys322Arg, NP_001333419.1:p.Lys331Arg, NP_001333421.1:p.Lys322Arg, NP_001333417.1:p.Lys492Arg, NP_001333416.1:p.Lys501Arg, NP_001333418.1:p.Lys492Arg, NP_001333422.1:p.Lys322Arg, NP_001333423.1:p.Lys32Arg, NP_001333424.1:p.Lys32Arg, NP_001333425.1:p.Lys32Arg, NP_001333426.1:p.Lys32Arg, XP_006719508.1:p.Lys501Arg, XP_016874897.1:p.Lys501Arg, XP_016874898.1:p.Lys501Arg, XP_016874899.1:p.Lys501Arg, XP_005253955.1:p.Lys501Arg, XP_011536739.1:p.Lys501Arg, XP_024304778.1:p.Lys501Arg, XP_047284910.1:p.Lys492Arg, XP_047284897.1:p.Lys501Arg, XP_047284903.1:p.Lys492Arg, XP_047284898.1:p.Lys501Arg, XP_047284899.1:p.Lys501Arg, XP_047284906.1:p.Lys492Arg, XP_047284909.1:p.Lys492Arg, XP_047284907.1:p.Lys492Arg, XP_047284908.1:p.Lys492Arg, XP_047284900.1:p.Lys492Arg, XP_047284902.1:p.Lys492Arg, XP_047284901.1:p.Lys492Arg, XP_047284904.1:p.Lys492Arg

                          13.

                          rs1443377434 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:118160350 (GRCh38)
                            12:118598155 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:118160349:T:C
                            Gene:
                            TAOK3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000012.12:g.118160350T>C, NC_000012.11:g.118598155T>C, NG_051835.1:g.217596A>G, NM_016281.4:c.2148A>G, NM_016281.3:c.2148A>G, NM_001346491.2:c.1638A>G, NM_001346491.1:c.1638A>G, NM_001346490.2:c.1665A>G, NM_001346490.1:c.1665A>G, NM_001346492.2:c.1638A>G, NM_001346492.1:c.1638A>G, NM_001346488.2:c.2148A>G, NM_001346488.1:c.2148A>G, NM_001346487.2:c.2175A>G, NM_001346487.1:c.2175A>G, NM_001346489.2:c.2148A>G, NM_001346489.1:c.2148A>G, NM_001346493.2:c.1638A>G, NM_001346493.1:c.1638A>G, NM_001346494.2:c.768A>G, NM_001346494.1:c.768A>G, NM_001346495.2:c.768A>G, NM_001346495.1:c.768A>G, NM_001346496.2:c.768A>G, NM_001346496.1:c.768A>G, NM_001346497.2:c.768A>G, NM_001346497.1:c.768A>G, XM_006719445.4:c.2175A>G, XM_006719445.3:c.2175A>G, XM_006719445.2:c.2175A>G, XM_006719445.1:c.2175A>G, XM_017019408.3:c.2175A>G, XM_017019408.2:c.2175A>G, XM_017019408.1:c.2175A>G, XM_017019409.3:c.2175A>G, XM_017019409.2:c.2175A>G, XM_017019409.1:c.2175A>G, XM_017019410.3:c.2175A>G, XM_017019410.2:c.2175A>G, XM_017019410.1:c.2175A>G, XM_005253898.3:c.2175A>G, XM_005253898.2:c.2175A>G, XM_005253898.1:c.2175A>G, XM_011538437.3:c.2175A>G, XM_011538437.2:c.2175A>G, XM_011538437.1:c.2175A>G, XM_024449010.2:c.2175A>G, XM_024449010.1:c.2175A>G, XM_047428954.1:c.2148A>G, XM_047428941.1:c.2175A>G, XM_047428947.1:c.2148A>G, XM_047428942.1:c.2175A>G, XM_047428943.1:c.2175A>G, XM_047428950.1:c.2148A>G, XM_047428953.1:c.2148A>G, XM_047428951.1:c.2148A>G, XM_047428952.1:c.2148A>G, XM_047428944.1:c.2148A>G, XM_047428946.1:c.2148A>G, XM_047428945.1:c.2148A>G, XM_047428948.1:c.2148A>G

                            14.

                            rs1443293162 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:118152386 (GRCh38)
                              12:118590191 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:118152385:T:C
                              Gene:
                              TAOK3 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.118152386T>C, NC_000012.11:g.118590191T>C, NG_051835.1:g.225560A>G, NM_016281.4:c.2376A>G, NM_016281.3:c.2376A>G, NM_001346491.2:c.1866A>G, NM_001346491.1:c.1866A>G, NM_001346490.2:c.1893A>G, NM_001346490.1:c.1893A>G, NM_001346492.2:c.1866A>G, NM_001346492.1:c.1866A>G, NM_001346488.2:c.2376A>G, NM_001346488.1:c.2376A>G, NM_001346487.2:c.2403A>G, NM_001346487.1:c.2403A>G, NM_001346489.2:c.2376A>G, NM_001346489.1:c.2376A>G, NM_001346493.2:c.1866A>G, NM_001346493.1:c.1866A>G, NM_001346494.2:c.996A>G, NM_001346494.1:c.996A>G, NM_001346495.2:c.996A>G, NM_001346495.1:c.996A>G, NM_001346496.2:c.996A>G, NM_001346496.1:c.996A>G, NM_001346497.2:c.996A>G, NM_001346497.1:c.996A>G, XM_006719445.4:c.2403A>G, XM_006719445.3:c.2403A>G, XM_006719445.2:c.2403A>G, XM_006719445.1:c.2403A>G, XM_017019408.3:c.2403A>G, XM_017019408.2:c.2403A>G, XM_017019408.1:c.2403A>G, XM_017019409.3:c.2403A>G, XM_017019409.2:c.2403A>G, XM_017019409.1:c.2403A>G, XM_017019410.3:c.2403A>G, XM_017019410.2:c.2403A>G, XM_017019410.1:c.2403A>G, XM_005253898.3:c.2403A>G, XM_005253898.2:c.2403A>G, XM_005253898.1:c.2403A>G, XM_011538437.3:c.2403A>G, XM_011538437.2:c.2403A>G, XM_011538437.1:c.2403A>G, XM_024449010.2:c.2403A>G, XM_024449010.1:c.2403A>G, XM_047428954.1:c.2376A>G, XM_047428941.1:c.2403A>G, XM_047428947.1:c.2376A>G, XM_047428942.1:c.2403A>G, XM_047428943.1:c.2403A>G, XM_047428950.1:c.2376A>G, XM_047428953.1:c.2376A>G, XM_047428951.1:c.2376A>G, XM_047428952.1:c.2376A>G, XM_047428944.1:c.2376A>G, XM_047428946.1:c.2376A>G, XM_047428945.1:c.2376A>G, XM_047428948.1:c.2376A>G

                              15.

                              rs1440870903 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:118181407 (GRCh38)
                                12:118619212 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:118181406:C:T
                                Gene:
                                TAOK3 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.118181407C>T, NC_000012.11:g.118619212C>T, NG_051835.1:g.196539G>A, NM_016281.4:c.1530G>A, NM_016281.3:c.1530G>A, NM_001346491.2:c.1020G>A, NM_001346491.1:c.1020G>A, NM_001346490.2:c.1047G>A, NM_001346490.1:c.1047G>A, NM_001346492.2:c.1020G>A, NM_001346492.1:c.1020G>A, NM_001346488.2:c.1530G>A, NM_001346488.1:c.1530G>A, NM_001346487.2:c.1557G>A, NM_001346487.1:c.1557G>A, NM_001346489.2:c.1530G>A, NM_001346489.1:c.1530G>A, NM_001346493.2:c.1020G>A, NM_001346493.1:c.1020G>A, NM_001346494.2:c.150G>A, NM_001346494.1:c.150G>A, NM_001346495.2:c.150G>A, NM_001346495.1:c.150G>A, NM_001346496.2:c.150G>A, NM_001346496.1:c.150G>A, NM_001346497.2:c.150G>A, NM_001346497.1:c.150G>A, XM_006719445.4:c.1557G>A, XM_006719445.3:c.1557G>A, XM_006719445.2:c.1557G>A, XM_006719445.1:c.1557G>A, XM_017019408.3:c.1557G>A, XM_017019408.2:c.1557G>A, XM_017019408.1:c.1557G>A, XM_017019409.3:c.1557G>A, XM_017019409.2:c.1557G>A, XM_017019409.1:c.1557G>A, XM_017019410.3:c.1557G>A, XM_017019410.2:c.1557G>A, XM_017019410.1:c.1557G>A, XM_005253898.3:c.1557G>A, XM_005253898.2:c.1557G>A, XM_005253898.1:c.1557G>A, XM_011538437.3:c.1557G>A, XM_011538437.2:c.1557G>A, XM_011538437.1:c.1557G>A, XM_024449010.2:c.1557G>A, XM_024449010.1:c.1557G>A, XM_047428954.1:c.1530G>A, XM_047428941.1:c.1557G>A, XM_047428947.1:c.1530G>A, XM_047428942.1:c.1557G>A, XM_047428943.1:c.1557G>A, XM_047428950.1:c.1530G>A, XM_047428953.1:c.1530G>A, XM_047428951.1:c.1530G>A, XM_047428952.1:c.1530G>A, XM_047428944.1:c.1530G>A, XM_047428946.1:c.1530G>A, XM_047428945.1:c.1530G>A, XM_047428948.1:c.1530G>A

                                16.

                                rs1438481624 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:118177305 (GRCh38)
                                  12:118615110 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:118177304:T:C
                                  Gene:
                                  TAOK3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000031/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.118177305T>C, NC_000012.11:g.118615110T>C, NG_051835.1:g.200641A>G, NM_016281.4:c.1591A>G, NM_016281.3:c.1591A>G, NM_001346491.2:c.1081A>G, NM_001346491.1:c.1081A>G, NM_001346490.2:c.1108A>G, NM_001346490.1:c.1108A>G, NM_001346492.2:c.1081A>G, NM_001346492.1:c.1081A>G, NM_001346488.2:c.1591A>G, NM_001346488.1:c.1591A>G, NM_001346487.2:c.1618A>G, NM_001346487.1:c.1618A>G, NM_001346489.2:c.1591A>G, NM_001346489.1:c.1591A>G, NM_001346493.2:c.1081A>G, NM_001346493.1:c.1081A>G, NM_001346494.2:c.211A>G, NM_001346494.1:c.211A>G, NM_001346495.2:c.211A>G, NM_001346495.1:c.211A>G, NM_001346496.2:c.211A>G, NM_001346496.1:c.211A>G, NM_001346497.2:c.211A>G, NM_001346497.1:c.211A>G, XM_006719445.4:c.1618A>G, XM_006719445.3:c.1618A>G, XM_006719445.2:c.1618A>G, XM_006719445.1:c.1618A>G, XM_017019408.3:c.1618A>G, XM_017019408.2:c.1618A>G, XM_017019408.1:c.1618A>G, XM_017019409.3:c.1618A>G, XM_017019409.2:c.1618A>G, XM_017019409.1:c.1618A>G, XM_017019410.3:c.1618A>G, XM_017019410.2:c.1618A>G, XM_017019410.1:c.1618A>G, XM_005253898.3:c.1618A>G, XM_005253898.2:c.1618A>G, XM_005253898.1:c.1618A>G, XM_011538437.3:c.1618A>G, XM_011538437.2:c.1618A>G, XM_011538437.1:c.1618A>G, XM_024449010.2:c.1618A>G, XM_024449010.1:c.1618A>G, XM_047428954.1:c.1591A>G, XM_047428941.1:c.1618A>G, XM_047428947.1:c.1591A>G, XM_047428942.1:c.1618A>G, XM_047428943.1:c.1618A>G, XM_047428950.1:c.1591A>G, XM_047428953.1:c.1591A>G, XM_047428951.1:c.1591A>G, XM_047428952.1:c.1591A>G, XM_047428944.1:c.1591A>G, XM_047428946.1:c.1591A>G, XM_047428945.1:c.1591A>G, XM_047428948.1:c.1591A>G, NP_057365.3:p.Lys531Glu, NP_001333420.1:p.Lys361Glu, NP_001333419.1:p.Lys370Glu, NP_001333421.1:p.Lys361Glu, NP_001333417.1:p.Lys531Glu, NP_001333416.1:p.Lys540Glu, NP_001333418.1:p.Lys531Glu, NP_001333422.1:p.Lys361Glu, NP_001333423.1:p.Lys71Glu, NP_001333424.1:p.Lys71Glu, NP_001333425.1:p.Lys71Glu, NP_001333426.1:p.Lys71Glu, XP_006719508.1:p.Lys540Glu, XP_016874897.1:p.Lys540Glu, XP_016874898.1:p.Lys540Glu, XP_016874899.1:p.Lys540Glu, XP_005253955.1:p.Lys540Glu, XP_011536739.1:p.Lys540Glu, XP_024304778.1:p.Lys540Glu, XP_047284910.1:p.Lys531Glu, XP_047284897.1:p.Lys540Glu, XP_047284903.1:p.Lys531Glu, XP_047284898.1:p.Lys540Glu, XP_047284899.1:p.Lys540Glu, XP_047284906.1:p.Lys531Glu, XP_047284909.1:p.Lys531Glu, XP_047284907.1:p.Lys531Glu, XP_047284908.1:p.Lys531Glu, XP_047284900.1:p.Lys531Glu, XP_047284902.1:p.Lys531Glu, XP_047284901.1:p.Lys531Glu, XP_047284904.1:p.Lys531Glu

                                  17.

                                  rs1438173669 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:118161845 (GRCh38)
                                    12:118599650 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:118161844:T:C
                                    Gene:
                                    TAOK3 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.118161845T>C, NC_000012.11:g.118599650T>C, NG_051835.1:g.216101A>G, NM_016281.4:c.2082A>G, NM_016281.3:c.2082A>G, NM_001346491.2:c.1572A>G, NM_001346491.1:c.1572A>G, NM_001346490.2:c.1599A>G, NM_001346490.1:c.1599A>G, NM_001346492.2:c.1572A>G, NM_001346492.1:c.1572A>G, NM_001346488.2:c.2082A>G, NM_001346488.1:c.2082A>G, NM_001346487.2:c.2109A>G, NM_001346487.1:c.2109A>G, NM_001346489.2:c.2082A>G, NM_001346489.1:c.2082A>G, NM_001346493.2:c.1572A>G, NM_001346493.1:c.1572A>G, NM_001346494.2:c.702A>G, NM_001346494.1:c.702A>G, NM_001346495.2:c.702A>G, NM_001346495.1:c.702A>G, NM_001346496.2:c.702A>G, NM_001346496.1:c.702A>G, NM_001346497.2:c.702A>G, NM_001346497.1:c.702A>G, XM_006719445.4:c.2109A>G, XM_006719445.3:c.2109A>G, XM_006719445.2:c.2109A>G, XM_006719445.1:c.2109A>G, XM_017019408.3:c.2109A>G, XM_017019408.2:c.2109A>G, XM_017019408.1:c.2109A>G, XM_017019409.3:c.2109A>G, XM_017019409.2:c.2109A>G, XM_017019409.1:c.2109A>G, XM_017019410.3:c.2109A>G, XM_017019410.2:c.2109A>G, XM_017019410.1:c.2109A>G, XM_005253898.3:c.2109A>G, XM_005253898.2:c.2109A>G, XM_005253898.1:c.2109A>G, XM_011538437.3:c.2109A>G, XM_011538437.2:c.2109A>G, XM_011538437.1:c.2109A>G, XM_024449010.2:c.2109A>G, XM_024449010.1:c.2109A>G, XM_047428954.1:c.2082A>G, XM_047428941.1:c.2109A>G, XM_047428947.1:c.2082A>G, XM_047428942.1:c.2109A>G, XM_047428943.1:c.2109A>G, XM_047428950.1:c.2082A>G, XM_047428953.1:c.2082A>G, XM_047428951.1:c.2082A>G, XM_047428952.1:c.2082A>G, XM_047428944.1:c.2082A>G, XM_047428946.1:c.2082A>G, XM_047428945.1:c.2082A>G, XM_047428948.1:c.2082A>G

                                    18.

                                    rs1438113018 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      12:118160219 (GRCh38)
                                      12:118598024 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:118160218:T:A
                                      Gene:
                                      TAOK3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_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_000012.12:g.118160219T>A, NC_000012.11:g.118598024T>A, NG_051835.1:g.217727A>T, NM_016281.4:c.2279A>T, NM_016281.3:c.2279A>T, NM_001346491.2:c.1769A>T, NM_001346491.1:c.1769A>T, NM_001346490.2:c.1796A>T, NM_001346490.1:c.1796A>T, NM_001346492.2:c.1769A>T, NM_001346492.1:c.1769A>T, NM_001346488.2:c.2279A>T, NM_001346488.1:c.2279A>T, NM_001346487.2:c.2306A>T, NM_001346487.1:c.2306A>T, NM_001346489.2:c.2279A>T, NM_001346489.1:c.2279A>T, NM_001346493.2:c.1769A>T, NM_001346493.1:c.1769A>T, NM_001346494.2:c.899A>T, NM_001346494.1:c.899A>T, NM_001346495.2:c.899A>T, NM_001346495.1:c.899A>T, NM_001346496.2:c.899A>T, NM_001346496.1:c.899A>T, NM_001346497.2:c.899A>T, NM_001346497.1:c.899A>T, XM_006719445.4:c.2306A>T, XM_006719445.3:c.2306A>T, XM_006719445.2:c.2306A>T, XM_006719445.1:c.2306A>T, XM_017019408.3:c.2306A>T, XM_017019408.2:c.2306A>T, XM_017019408.1:c.2306A>T, XM_017019409.3:c.2306A>T, XM_017019409.2:c.2306A>T, XM_017019409.1:c.2306A>T, XM_017019410.3:c.2306A>T, XM_017019410.2:c.2306A>T, XM_017019410.1:c.2306A>T, XM_005253898.3:c.2306A>T, XM_005253898.2:c.2306A>T, XM_005253898.1:c.2306A>T, XM_011538437.3:c.2306A>T, XM_011538437.2:c.2306A>T, XM_011538437.1:c.2306A>T, XM_024449010.2:c.2306A>T, XM_024449010.1:c.2306A>T, XM_047428954.1:c.2279A>T, XM_047428941.1:c.2306A>T, XM_047428947.1:c.2279A>T, XM_047428942.1:c.2306A>T, XM_047428943.1:c.2306A>T, XM_047428950.1:c.2279A>T, XM_047428953.1:c.2279A>T, XM_047428951.1:c.2279A>T, XM_047428952.1:c.2279A>T, XM_047428944.1:c.2279A>T, XM_047428946.1:c.2279A>T, XM_047428945.1:c.2279A>T, XM_047428948.1:c.2279A>T, NP_057365.3:p.Glu760Val, NP_001333420.1:p.Glu590Val, NP_001333419.1:p.Glu599Val, NP_001333421.1:p.Glu590Val, NP_001333417.1:p.Glu760Val, NP_001333416.1:p.Glu769Val, NP_001333418.1:p.Glu760Val, NP_001333422.1:p.Glu590Val, NP_001333423.1:p.Glu300Val, NP_001333424.1:p.Glu300Val, NP_001333425.1:p.Glu300Val, NP_001333426.1:p.Glu300Val, XP_006719508.1:p.Glu769Val, XP_016874897.1:p.Glu769Val, XP_016874898.1:p.Glu769Val, XP_016874899.1:p.Glu769Val, XP_005253955.1:p.Glu769Val, XP_011536739.1:p.Glu769Val, XP_024304778.1:p.Glu769Val, XP_047284910.1:p.Glu760Val, XP_047284897.1:p.Glu769Val, XP_047284903.1:p.Glu760Val, XP_047284898.1:p.Glu769Val, XP_047284899.1:p.Glu769Val, XP_047284906.1:p.Glu760Val, XP_047284909.1:p.Glu760Val, XP_047284907.1:p.Glu760Val, XP_047284908.1:p.Glu760Val, XP_047284900.1:p.Glu760Val, XP_047284902.1:p.Glu760Val, XP_047284901.1:p.Glu760Val, XP_047284904.1:p.Glu760Val

                                      19.

                                      rs1436251739 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:118151146 (GRCh38)
                                        12:118588951 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:118151145:G:A
                                        Gene:
                                        TAOK3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_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_000012.12:g.118151146G>A, NC_000012.11:g.118588951G>A, NG_051835.1:g.226800C>T, NM_016281.4:c.2548C>T, NM_016281.3:c.2548C>T, NM_001346491.2:c.2038C>T, NM_001346491.1:c.2038C>T, NM_001346490.2:c.2065C>T, NM_001346490.1:c.2065C>T, NM_001346492.2:c.2038C>T, NM_001346492.1:c.2038C>T, NM_001346488.2:c.2548C>T, NM_001346488.1:c.2548C>T, NM_001346487.2:c.2575C>T, NM_001346487.1:c.2575C>T, NM_001346489.2:c.2548C>T, NM_001346489.1:c.2548C>T, NM_001346493.2:c.2038C>T, NM_001346493.1:c.2038C>T, NM_001346494.2:c.1168C>T, NM_001346494.1:c.1168C>T, NM_001346495.2:c.1168C>T, NM_001346495.1:c.1168C>T, NM_001346496.2:c.1168C>T, NM_001346496.1:c.1168C>T, NM_001346497.2:c.1168C>T, NM_001346497.1:c.1168C>T, XM_006719445.4:c.2575C>T, XM_006719445.3:c.2575C>T, XM_006719445.2:c.2575C>T, XM_006719445.1:c.2575C>T, XM_017019408.3:c.2575C>T, XM_017019408.2:c.2575C>T, XM_017019408.1:c.2575C>T, XM_017019409.3:c.2575C>T, XM_017019409.2:c.2575C>T, XM_017019409.1:c.2575C>T, XM_017019410.3:c.2575C>T, XM_017019410.2:c.2575C>T, XM_017019410.1:c.2575C>T, XM_005253898.3:c.2575C>T, XM_005253898.2:c.2575C>T, XM_005253898.1:c.2575C>T, XM_011538437.3:c.2575C>T, XM_011538437.2:c.2575C>T, XM_011538437.1:c.2575C>T, XM_024449010.2:c.2575C>T, XM_024449010.1:c.2575C>T, XM_047428954.1:c.2548C>T, XM_047428941.1:c.2575C>T, XM_047428947.1:c.2548C>T, XM_047428942.1:c.2575C>T, XM_047428943.1:c.2575C>T, XM_047428950.1:c.2548C>T, XM_047428953.1:c.2548C>T, XM_047428951.1:c.2548C>T, XM_047428952.1:c.2548C>T, XM_047428944.1:c.2548C>T, XM_047428946.1:c.2548C>T, XM_047428945.1:c.2548C>T, XM_047428948.1:c.2548C>T

                                        20.

                                        rs1434081179 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:118160246 (GRCh38)
                                          12:118598051 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:118160245:T:C
                                          Gene:
                                          TAOK3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.118160246T>C, NC_000012.11:g.118598051T>C, NG_051835.1:g.217700A>G, NM_016281.4:c.2252A>G, NM_016281.3:c.2252A>G, NM_001346491.2:c.1742A>G, NM_001346491.1:c.1742A>G, NM_001346490.2:c.1769A>G, NM_001346490.1:c.1769A>G, NM_001346492.2:c.1742A>G, NM_001346492.1:c.1742A>G, NM_001346488.2:c.2252A>G, NM_001346488.1:c.2252A>G, NM_001346487.2:c.2279A>G, NM_001346487.1:c.2279A>G, NM_001346489.2:c.2252A>G, NM_001346489.1:c.2252A>G, NM_001346493.2:c.1742A>G, NM_001346493.1:c.1742A>G, NM_001346494.2:c.872A>G, NM_001346494.1:c.872A>G, NM_001346495.2:c.872A>G, NM_001346495.1:c.872A>G, NM_001346496.2:c.872A>G, NM_001346496.1:c.872A>G, NM_001346497.2:c.872A>G, NM_001346497.1:c.872A>G, XM_006719445.4:c.2279A>G, XM_006719445.3:c.2279A>G, XM_006719445.2:c.2279A>G, XM_006719445.1:c.2279A>G, XM_017019408.3:c.2279A>G, XM_017019408.2:c.2279A>G, XM_017019408.1:c.2279A>G, XM_017019409.3:c.2279A>G, XM_017019409.2:c.2279A>G, XM_017019409.1:c.2279A>G, XM_017019410.3:c.2279A>G, XM_017019410.2:c.2279A>G, XM_017019410.1:c.2279A>G, XM_005253898.3:c.2279A>G, XM_005253898.2:c.2279A>G, XM_005253898.1:c.2279A>G, XM_011538437.3:c.2279A>G, XM_011538437.2:c.2279A>G, XM_011538437.1:c.2279A>G, XM_024449010.2:c.2279A>G, XM_024449010.1:c.2279A>G, XM_047428954.1:c.2252A>G, XM_047428941.1:c.2279A>G, XM_047428947.1:c.2252A>G, XM_047428942.1:c.2279A>G, XM_047428943.1:c.2279A>G, XM_047428950.1:c.2252A>G, XM_047428953.1:c.2252A>G, XM_047428951.1:c.2252A>G, XM_047428952.1:c.2252A>G, XM_047428944.1:c.2252A>G, XM_047428946.1:c.2252A>G, XM_047428945.1:c.2252A>G, XM_047428948.1:c.2252A>G, NP_057365.3:p.Lys751Arg, NP_001333420.1:p.Lys581Arg, NP_001333419.1:p.Lys590Arg, NP_001333421.1:p.Lys581Arg, NP_001333417.1:p.Lys751Arg, NP_001333416.1:p.Lys760Arg, NP_001333418.1:p.Lys751Arg, NP_001333422.1:p.Lys581Arg, NP_001333423.1:p.Lys291Arg, NP_001333424.1:p.Lys291Arg, NP_001333425.1:p.Lys291Arg, NP_001333426.1:p.Lys291Arg, XP_006719508.1:p.Lys760Arg, XP_016874897.1:p.Lys760Arg, XP_016874898.1:p.Lys760Arg, XP_016874899.1:p.Lys760Arg, XP_005253955.1:p.Lys760Arg, XP_011536739.1:p.Lys760Arg, XP_024304778.1:p.Lys760Arg, XP_047284910.1:p.Lys751Arg, XP_047284897.1:p.Lys760Arg, XP_047284903.1:p.Lys751Arg, XP_047284898.1:p.Lys760Arg, XP_047284899.1:p.Lys760Arg, XP_047284906.1:p.Lys751Arg, XP_047284909.1:p.Lys751Arg, XP_047284907.1:p.Lys751Arg, XP_047284908.1:p.Lys751Arg, XP_047284900.1:p.Lys751Arg, XP_047284902.1:p.Lys751Arg, XP_047284901.1:p.Lys751Arg, XP_047284904.1:p.Lys751Arg

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