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Items: 1 to 20 of 841

1.

rs1491329520 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    1:213241394 (GRCh38)
    1:213414737 (GRCh37)
    Canonical SPDI:
    NC_000001.11:213241393:AG:
    Gene:
    RPS6KC1 (Varview)
    Functional Consequence:
    frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    -=0.000008/1 (ExAC)
    HGVS:
    NC_000001.11:g.213241394_213241395del, NC_000001.10:g.213414737_213414738del, NM_012424.6:c.1918_1919del, NM_012424.5:c.1918_1919del, NM_012424.4:c.1918_1919del, NM_012424.3:c.1918_1919del, NM_001136138.4:c.1882_1883del, NM_001136138.3:c.1882_1883del, NM_001136138.2:c.1882_1883del, NM_001136138.1:c.1882_1883del, NM_001287219.3:c.1282_1283del, NM_001287219.2:c.1282_1283del, NM_001287219.1:c.1282_1283del, NM_001287218.3:c.1282_1283del, NM_001287218.2:c.1282_1283del, NM_001287218.1:c.1282_1283del, NM_001287221.3:c.1375_1376del, NM_001287221.2:c.1375_1376del, NM_001287221.1:c.1375_1376del, NM_001287220.3:c.523_524del, NM_001287220.2:c.523_524del, NM_001287220.1:c.523_524del, XM_017001024.2:c.1972_1973del, XM_017001024.1:c.1375_1376del, NR_146210.2:n.2199_2200del, NR_146210.1:n.2207_2208del, NM_001349660.2:c.862_863del, NM_001349660.1:c.862_863del, NM_001349651.2:c.1375_1376del, NM_001349651.1:c.1375_1376del, NR_146207.2:n.2082_2083del, NR_146207.1:n.2090_2091del, NM_001349659.2:c.862_863del, NM_001349659.1:c.862_863del, NM_001349650.2:c.1375_1376del, NM_001349650.1:c.1375_1376del, NM_001349662.2:c.862_863del, NM_001349662.1:c.862_863del, NM_001349652.2:c.1375_1376del, NM_001349652.1:c.1375_1376del, NM_001349649.2:c.1375_1376del, NM_001349649.1:c.1375_1376del, NM_001349654.2:c.1282_1283del, NM_001349654.1:c.1282_1283del, NR_146209.2:n.1901_1902del, NR_146209.1:n.1909_1910del, NM_001349653.2:c.1375_1376del, NM_001349653.1:c.1375_1376del, NM_001349648.2:c.1375_1376del, NM_001349648.1:c.1375_1376del, NM_001349661.2:c.862_863del, NM_001349661.1:c.862_863del, NM_001349669.2:c.523_524del, NM_001349669.1:c.523_524del, NM_001349666.2:c.523_524del, NM_001349666.1:c.523_524del, NM_001349646.2:c.1825_1826del, NM_001349646.1:c.1825_1826del, NM_001349668.2:c.523_524del, NM_001349668.1:c.523_524del, NM_001349664.2:c.523_524del, NM_001349664.1:c.523_524del, NM_001349671.2:c.523_524del, NM_001349671.1:c.523_524del, NR_146208.2:n.1589_1590del, NR_146208.1:n.1597_1598del, NM_001349658.2:c.1027_1028del, NM_001349658.1:c.1027_1028del, NM_001349670.2:c.523_524del, NM_001349670.1:c.523_524del, NM_001349667.2:c.523_524del, NM_001349667.1:c.523_524del, NM_001349647.2:c.1555_1556del, NM_001349647.1:c.1555_1556del, NM_001349672.2:c.523_524del, NM_001349672.1:c.523_524del, NM_001349657.2:c.1027_1028del, NM_001349657.1:c.1027_1028del, NM_001349665.2:c.523_524del, NM_001349665.1:c.523_524del, NM_001349663.2:c.523_524del, NM_001349663.1:c.523_524del, XM_047417912.1:c.1972_1973del, XM_047417919.1:c.1879_1880del, XM_047417948.1:c.1375_1376del, XM_047417933.1:c.1789_1790del, XM_047417939.1:c.1519_1520del, XM_047417940.1:c.1462_1463del, XM_047417945.1:c.1426_1427del, XM_047417936.1:c.1825_1826del, XR_007058661.1:n.2082_2083del, XR_007058662.1:n.1953_1954del, NM_058253.1:c.127_128del, NP_036556.2:p.Ser640fs, NP_001129610.1:p.Ser628fs, NP_001274148.1:p.Ser428fs, NP_001274147.1:p.Ser428fs, NP_001274150.1:p.Ser459fs, NP_001274149.1:p.Ser175fs, XP_016856513.2:p.Ser658fs, NP_001336589.1:p.Ser288fs, NP_001336580.1:p.Ser459fs, NP_001336588.1:p.Ser288fs, NP_001336579.1:p.Ser459fs, NP_001336591.1:p.Ser288fs, NP_001336581.1:p.Ser459fs, NP_001336578.1:p.Ser459fs, NP_001336583.1:p.Ser428fs, NP_001336582.1:p.Ser459fs, NP_001336577.1:p.Ser459fs, NP_001336590.1:p.Ser288fs, NP_001336598.1:p.Ser175fs, NP_001336595.1:p.Ser175fs, NP_001336575.1:p.Ser609fs, NP_001336597.1:p.Ser175fs, NP_001336593.1:p.Ser175fs, NP_001336600.1:p.Ser175fs, NP_001336587.1:p.Ser343fs, NP_001336599.1:p.Ser175fs, NP_001336596.1:p.Ser175fs, NP_001336576.1:p.Ser519fs, NP_001336601.1:p.Ser175fs, NP_001336586.1:p.Ser343fs, NP_001336594.1:p.Ser175fs, NP_001336592.1:p.Ser175fs, XP_047273868.1:p.Ser658fs, XP_047273875.1:p.Ser627fs, XP_047273904.1:p.Ser459fs, XP_047273889.1:p.Ser597fs, XP_047273895.1:p.Ser507fs, XP_047273896.1:p.Ser488fs, XP_047273901.1:p.Ser476fs, XP_047273892.1:p.Ser609fs

    2.

    rs1490738705 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:213241377 (GRCh38)
      1:213414720 (GRCh37)
      Canonical SPDI:
      NC_000001.11:213241376:C:G,NC_000001.11:213241376:C:T
      Gene:
      RPS6KC1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000001.11:g.213241377C>G, NC_000001.11:g.213241377C>T, NC_000001.10:g.213414720C>G, NC_000001.10:g.213414720C>T, NM_012424.6:c.1901C>G, NM_012424.6:c.1901C>T, NM_012424.5:c.1901C>G, NM_012424.5:c.1901C>T, NM_012424.4:c.1901C>G, NM_012424.4:c.1901C>T, NM_012424.3:c.1901C>G, NM_012424.3:c.1901C>T, NM_001136138.4:c.1865C>G, NM_001136138.4:c.1865C>T, NM_001136138.3:c.1865C>G, NM_001136138.3:c.1865C>T, NM_001136138.2:c.1865C>G, NM_001136138.2:c.1865C>T, NM_001136138.1:c.1865C>G, NM_001136138.1:c.1865C>T, NM_001287219.3:c.1265C>G, NM_001287219.3:c.1265C>T, NM_001287219.2:c.1265C>G, NM_001287219.2:c.1265C>T, NM_001287219.1:c.1265C>G, NM_001287219.1:c.1265C>T, NM_001287218.3:c.1265C>G, NM_001287218.3:c.1265C>T, NM_001287218.2:c.1265C>G, NM_001287218.2:c.1265C>T, NM_001287218.1:c.1265C>G, NM_001287218.1:c.1265C>T, NM_001287221.3:c.1358C>G, NM_001287221.3:c.1358C>T, NM_001287221.2:c.1358C>G, NM_001287221.2:c.1358C>T, NM_001287221.1:c.1358C>G, NM_001287221.1:c.1358C>T, NM_001287220.3:c.506C>G, NM_001287220.3:c.506C>T, NM_001287220.2:c.506C>G, NM_001287220.2:c.506C>T, NM_001287220.1:c.506C>G, NM_001287220.1:c.506C>T, XM_017001024.2:c.1955C>G, XM_017001024.2:c.1955C>T, XM_017001024.1:c.1358C>G, XM_017001024.1:c.1358C>T, NR_146210.2:n.2182C>G, NR_146210.2:n.2182C>T, NR_146210.1:n.2190C>G, NR_146210.1:n.2190C>T, NM_001349660.2:c.845C>G, NM_001349660.2:c.845C>T, NM_001349660.1:c.845C>G, NM_001349660.1:c.845C>T, NM_001349651.2:c.1358C>G, NM_001349651.2:c.1358C>T, NM_001349651.1:c.1358C>G, NM_001349651.1:c.1358C>T, NR_146207.2:n.2065C>G, NR_146207.2:n.2065C>T, NR_146207.1:n.2073C>G, NR_146207.1:n.2073C>T, NM_001349659.2:c.845C>G, NM_001349659.2:c.845C>T, NM_001349659.1:c.845C>G, NM_001349659.1:c.845C>T, NM_001349650.2:c.1358C>G, NM_001349650.2:c.1358C>T, NM_001349650.1:c.1358C>G, NM_001349650.1:c.1358C>T, NM_001349662.2:c.845C>G, NM_001349662.2:c.845C>T, NM_001349662.1:c.845C>G, NM_001349662.1:c.845C>T, NM_001349652.2:c.1358C>G, NM_001349652.2:c.1358C>T, NM_001349652.1:c.1358C>G, NM_001349652.1:c.1358C>T, NM_001349649.2:c.1358C>G, NM_001349649.2:c.1358C>T, NM_001349649.1:c.1358C>G, NM_001349649.1:c.1358C>T, NM_001349654.2:c.1265C>G, NM_001349654.2:c.1265C>T, NM_001349654.1:c.1265C>G, NM_001349654.1:c.1265C>T, NR_146209.2:n.1884C>G, NR_146209.2:n.1884C>T, NR_146209.1:n.1892C>G, NR_146209.1:n.1892C>T, NM_001349653.2:c.1358C>G, NM_001349653.2:c.1358C>T, NM_001349653.1:c.1358C>G, NM_001349653.1:c.1358C>T, NM_001349648.2:c.1358C>G, NM_001349648.2:c.1358C>T, NM_001349648.1:c.1358C>G, NM_001349648.1:c.1358C>T, NM_001349661.2:c.845C>G, NM_001349661.2:c.845C>T, NM_001349661.1:c.845C>G, NM_001349661.1:c.845C>T, NM_001349669.2:c.506C>G, NM_001349669.2:c.506C>T, NM_001349669.1:c.506C>G, NM_001349669.1:c.506C>T, NM_001349666.2:c.506C>G, NM_001349666.2:c.506C>T, NM_001349666.1:c.506C>G, NM_001349666.1:c.506C>T, NM_001349646.2:c.1808C>G, NM_001349646.2:c.1808C>T, NM_001349646.1:c.1808C>G, NM_001349646.1:c.1808C>T, NM_001349668.2:c.506C>G, NM_001349668.2:c.506C>T, NM_001349668.1:c.506C>G, NM_001349668.1:c.506C>T, NM_001349664.2:c.506C>G, NM_001349664.2:c.506C>T, NM_001349664.1:c.506C>G, NM_001349664.1:c.506C>T, NM_001349671.2:c.506C>G, NM_001349671.2:c.506C>T, NM_001349671.1:c.506C>G, NM_001349671.1:c.506C>T, NR_146208.2:n.1572C>G, NR_146208.2:n.1572C>T, NR_146208.1:n.1580C>G, NR_146208.1:n.1580C>T, NM_001349658.2:c.1010C>G, NM_001349658.2:c.1010C>T, NM_001349658.1:c.1010C>G, NM_001349658.1:c.1010C>T, NM_001349670.2:c.506C>G, NM_001349670.2:c.506C>T, NM_001349670.1:c.506C>G, NM_001349670.1:c.506C>T, NM_001349667.2:c.506C>G, NM_001349667.2:c.506C>T, NM_001349667.1:c.506C>G, NM_001349667.1:c.506C>T, NM_001349647.2:c.1538C>G, NM_001349647.2:c.1538C>T, NM_001349647.1:c.1538C>G, NM_001349647.1:c.1538C>T, NM_001349672.2:c.506C>G, NM_001349672.2:c.506C>T, NM_001349672.1:c.506C>G, NM_001349672.1:c.506C>T, NM_001349657.2:c.1010C>G, NM_001349657.2:c.1010C>T, NM_001349657.1:c.1010C>G, NM_001349657.1:c.1010C>T, NM_001349665.2:c.506C>G, NM_001349665.2:c.506C>T, NM_001349665.1:c.506C>G, NM_001349665.1:c.506C>T, NM_001349663.2:c.506C>G, NM_001349663.2:c.506C>T, NM_001349663.1:c.506C>G, NM_001349663.1:c.506C>T, XM_047417912.1:c.1955C>G, XM_047417912.1:c.1955C>T, XM_047417919.1:c.1862C>G, XM_047417919.1:c.1862C>T, XM_047417948.1:c.1358C>G, XM_047417948.1:c.1358C>T, XM_047417933.1:c.1772C>G, XM_047417933.1:c.1772C>T, XM_047417939.1:c.1502C>G, XM_047417939.1:c.1502C>T, XM_047417940.1:c.1445C>G, XM_047417940.1:c.1445C>T, XM_047417945.1:c.1409C>G, XM_047417945.1:c.1409C>T, XM_047417936.1:c.1808C>G, XM_047417936.1:c.1808C>T, XR_007058661.1:n.2065C>G, XR_007058661.1:n.2065C>T, XR_007058662.1:n.1936C>G, XR_007058662.1:n.1936C>T, NM_058253.1:c.110C>G, NM_058253.1:c.110C>T, NP_036556.2:p.Thr634Ser, NP_036556.2:p.Thr634Ile, NP_001129610.1:p.Thr622Ser, NP_001129610.1:p.Thr622Ile, NP_001274148.1:p.Thr422Ser, NP_001274148.1:p.Thr422Ile, NP_001274147.1:p.Thr422Ser, NP_001274147.1:p.Thr422Ile, NP_001274150.1:p.Thr453Ser, NP_001274150.1:p.Thr453Ile, NP_001274149.1:p.Thr169Ser, NP_001274149.1:p.Thr169Ile, XP_016856513.2:p.Thr652Ser, XP_016856513.2:p.Thr652Ile, NP_001336589.1:p.Thr282Ser, NP_001336589.1:p.Thr282Ile, NP_001336580.1:p.Thr453Ser, NP_001336580.1:p.Thr453Ile, NP_001336588.1:p.Thr282Ser, NP_001336588.1:p.Thr282Ile, NP_001336579.1:p.Thr453Ser, NP_001336579.1:p.Thr453Ile, NP_001336591.1:p.Thr282Ser, NP_001336591.1:p.Thr282Ile, NP_001336581.1:p.Thr453Ser, NP_001336581.1:p.Thr453Ile, NP_001336578.1:p.Thr453Ser, NP_001336578.1:p.Thr453Ile, NP_001336583.1:p.Thr422Ser, NP_001336583.1:p.Thr422Ile, NP_001336582.1:p.Thr453Ser, NP_001336582.1:p.Thr453Ile, NP_001336577.1:p.Thr453Ser, NP_001336577.1:p.Thr453Ile, NP_001336590.1:p.Thr282Ser, NP_001336590.1:p.Thr282Ile, NP_001336598.1:p.Thr169Ser, NP_001336598.1:p.Thr169Ile, NP_001336595.1:p.Thr169Ser, NP_001336595.1:p.Thr169Ile, NP_001336575.1:p.Thr603Ser, NP_001336575.1:p.Thr603Ile, NP_001336597.1:p.Thr169Ser, NP_001336597.1:p.Thr169Ile, NP_001336593.1:p.Thr169Ser, NP_001336593.1:p.Thr169Ile, NP_001336600.1:p.Thr169Ser, NP_001336600.1:p.Thr169Ile, NP_001336587.1:p.Thr337Ser, NP_001336587.1:p.Thr337Ile, NP_001336599.1:p.Thr169Ser, NP_001336599.1:p.Thr169Ile, NP_001336596.1:p.Thr169Ser, NP_001336596.1:p.Thr169Ile, NP_001336576.1:p.Thr513Ser, NP_001336576.1:p.Thr513Ile, NP_001336601.1:p.Thr169Ser, NP_001336601.1:p.Thr169Ile, NP_001336586.1:p.Thr337Ser, NP_001336586.1:p.Thr337Ile, NP_001336594.1:p.Thr169Ser, NP_001336594.1:p.Thr169Ile, NP_001336592.1:p.Thr169Ser, NP_001336592.1:p.Thr169Ile, XP_047273868.1:p.Thr652Ser, XP_047273868.1:p.Thr652Ile, XP_047273875.1:p.Thr621Ser, XP_047273875.1:p.Thr621Ile, XP_047273904.1:p.Thr453Ser, XP_047273904.1:p.Thr453Ile, XP_047273889.1:p.Thr591Ser, XP_047273889.1:p.Thr591Ile, XP_047273895.1:p.Thr501Ser, XP_047273895.1:p.Thr501Ile, XP_047273896.1:p.Thr482Ser, XP_047273896.1:p.Thr482Ile, XP_047273901.1:p.Thr470Ser, XP_047273901.1:p.Thr470Ile, XP_047273892.1:p.Thr603Ser, XP_047273892.1:p.Thr603Ile

      3.

      rs1490451365 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GAA>- [Show Flanks]
        Chromosome:
        1:213240995 (GRCh38)
        1:213414338 (GRCh37)
        Canonical SPDI:
        NC_000001.11:213240987:AGAAGAAGAA:AGAAGAA
        Gene:
        RPS6KC1 (Varview)
        Functional Consequence:
        inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.213240989GAA[2], NC_000001.10:g.213414332GAA[2], NM_012424.6:c.1513GAA[2], NM_012424.5:c.1513GAA[2], NM_012424.4:c.1513GAA[2], NM_012424.3:c.1513GAA[2], NM_001136138.4:c.1477GAA[2], NM_001136138.3:c.1477GAA[2], NM_001136138.2:c.1477GAA[2], NM_001136138.1:c.1477GAA[2], NM_001287219.3:c.877GAA[2], NM_001287219.2:c.877GAA[2], NM_001287219.1:c.877GAA[2], NM_001287218.3:c.877GAA[2], NM_001287218.2:c.877GAA[2], NM_001287218.1:c.877GAA[2], NM_001287221.3:c.970GAA[2], NM_001287221.2:c.970GAA[2], NM_001287221.1:c.970GAA[2], NM_001287220.3:c.118GAA[2], NM_001287220.2:c.118GAA[2], NM_001287220.1:c.118GAA[2], XM_017001024.2:c.1567GAA[2], XM_017001024.1:c.970GAA[2], NR_146210.2:n.1794GAA[2], NR_146210.1:n.1802GAA[2], NM_001349660.2:c.457GAA[2], NM_001349660.1:c.457GAA[2], NM_001349651.2:c.970GAA[2], NM_001349651.1:c.970GAA[2], NR_146207.2:n.1677GAA[2], NR_146207.1:n.1685GAA[2], NM_001349659.2:c.457GAA[2], NM_001349659.1:c.457GAA[2], NM_001349650.2:c.970GAA[2], NM_001349650.1:c.970GAA[2], NM_001349662.2:c.457GAA[2], NM_001349662.1:c.457GAA[2], NM_001349652.2:c.970GAA[2], NM_001349652.1:c.970GAA[2], NM_001349649.2:c.970GAA[2], NM_001349649.1:c.970GAA[2], NM_001349654.2:c.877GAA[2], NM_001349654.1:c.877GAA[2], NR_146209.2:n.1496GAA[2], NR_146209.1:n.1504GAA[2], NM_001349653.2:c.970GAA[2], NM_001349653.1:c.970GAA[2], NM_001349648.2:c.970GAA[2], NM_001349648.1:c.970GAA[2], NM_001349661.2:c.457GAA[2], NM_001349661.1:c.457GAA[2], NM_001349669.2:c.118GAA[2], NM_001349669.1:c.118GAA[2], NM_001349666.2:c.118GAA[2], NM_001349666.1:c.118GAA[2], NM_001349646.2:c.1420GAA[2], NM_001349646.1:c.1420GAA[2], NM_001349668.2:c.118GAA[2], NM_001349668.1:c.118GAA[2], NM_001349664.2:c.118GAA[2], NM_001349664.1:c.118GAA[2], NM_001349671.2:c.118GAA[2], NM_001349671.1:c.118GAA[2], NR_146208.2:n.1184GAA[2], NR_146208.1:n.1192GAA[2], NM_001349658.2:c.622GAA[2], NM_001349658.1:c.622GAA[2], NM_001349670.2:c.118GAA[2], NM_001349670.1:c.118GAA[2], NM_001349667.2:c.118GAA[2], NM_001349667.1:c.118GAA[2], NM_001349647.2:c.1150GAA[2], NM_001349647.1:c.1150GAA[2], NM_001349672.2:c.118GAA[2], NM_001349672.1:c.118GAA[2], NM_001349657.2:c.622GAA[2], NM_001349657.1:c.622GAA[2], NM_001349665.2:c.118GAA[2], NM_001349665.1:c.118GAA[2], NM_001349663.2:c.118GAA[2], NM_001349663.1:c.118GAA[2], XM_047417912.1:c.1567GAA[2], XM_047417919.1:c.1474GAA[2], XM_047417948.1:c.970GAA[2], XM_047417933.1:c.1384GAA[2], XM_047417939.1:c.1114GAA[2], XM_047417940.1:c.1057GAA[2], XM_047417945.1:c.1021GAA[2], XM_047417936.1:c.1420GAA[2], XR_007058661.1:n.1677GAA[2], XR_007058662.1:n.1548GAA[2], NP_036556.2:p.Glu507del, NP_001129610.1:p.Glu495del, NP_001274148.1:p.Glu295del, NP_001274147.1:p.Glu295del, NP_001274150.1:p.Glu326del, NP_001274149.1:p.Glu42del, XP_016856513.2:p.Glu525del, NP_001336589.1:p.Glu155del, NP_001336580.1:p.Glu326del, NP_001336588.1:p.Glu155del, NP_001336579.1:p.Glu326del, NP_001336591.1:p.Glu155del, NP_001336581.1:p.Glu326del, NP_001336578.1:p.Glu326del, NP_001336583.1:p.Glu295del, NP_001336582.1:p.Glu326del, NP_001336577.1:p.Glu326del, NP_001336590.1:p.Glu155del, NP_001336598.1:p.Glu42del, NP_001336595.1:p.Glu42del, NP_001336575.1:p.Glu476del, NP_001336597.1:p.Glu42del, NP_001336593.1:p.Glu42del, NP_001336600.1:p.Glu42del, NP_001336587.1:p.Glu210del, NP_001336599.1:p.Glu42del, NP_001336596.1:p.Glu42del, NP_001336576.1:p.Glu386del, NP_001336601.1:p.Glu42del, NP_001336586.1:p.Glu210del, NP_001336594.1:p.Glu42del, NP_001336592.1:p.Glu42del, XP_047273868.1:p.Glu525del, XP_047273875.1:p.Glu494del, XP_047273904.1:p.Glu326del, XP_047273889.1:p.Glu464del, XP_047273895.1:p.Glu374del, XP_047273896.1:p.Glu355del, XP_047273901.1:p.Glu343del, XP_047273892.1:p.Glu476del

        4.

        rs1488417294 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          1:213242166 (GRCh38)
          1:213415509 (GRCh37)
          Canonical SPDI:
          NC_000001.11:213242165:C:G,NC_000001.11:213242165:C:T
          Gene:
          RPS6KC1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000051/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.213242166C>G, NC_000001.11:g.213242166C>T, NC_000001.10:g.213415509C>G, NC_000001.10:g.213415509C>T, NM_012424.6:c.2690C>G, NM_012424.6:c.2690C>T, NM_012424.5:c.2690C>G, NM_012424.5:c.2690C>T, NM_012424.4:c.2690C>G, NM_012424.4:c.2690C>T, NM_012424.3:c.2690C>G, NM_012424.3:c.2690C>T, NM_001136138.4:c.2654C>G, NM_001136138.4:c.2654C>T, NM_001136138.3:c.2654C>G, NM_001136138.3:c.2654C>T, NM_001136138.2:c.2654C>G, NM_001136138.2:c.2654C>T, NM_001136138.1:c.2654C>G, NM_001136138.1:c.2654C>T, NM_001287219.3:c.2054C>G, NM_001287219.3:c.2054C>T, NM_001287219.2:c.2054C>G, NM_001287219.2:c.2054C>T, NM_001287219.1:c.2054C>G, NM_001287219.1:c.2054C>T, NM_001287218.3:c.2054C>G, NM_001287218.3:c.2054C>T, NM_001287218.2:c.2054C>G, NM_001287218.2:c.2054C>T, NM_001287218.1:c.2054C>G, NM_001287218.1:c.2054C>T, NM_001287221.3:c.2147C>G, NM_001287221.3:c.2147C>T, NM_001287221.2:c.2147C>G, NM_001287221.2:c.2147C>T, NM_001287221.1:c.2147C>G, NM_001287221.1:c.2147C>T, NM_001287220.3:c.1295C>G, NM_001287220.3:c.1295C>T, NM_001287220.2:c.1295C>G, NM_001287220.2:c.1295C>T, NM_001287220.1:c.1295C>G, NM_001287220.1:c.1295C>T, XM_017001024.2:c.2744C>G, XM_017001024.2:c.2744C>T, XM_017001024.1:c.2147C>G, XM_017001024.1:c.2147C>T, NR_146210.2:n.2971C>G, NR_146210.2:n.2971C>T, NR_146210.1:n.2979C>G, NR_146210.1:n.2979C>T, NM_001349660.2:c.1634C>G, NM_001349660.2:c.1634C>T, NM_001349660.1:c.1634C>G, NM_001349660.1:c.1634C>T, NM_001349651.2:c.2147C>G, NM_001349651.2:c.2147C>T, NM_001349651.1:c.2147C>G, NM_001349651.1:c.2147C>T, NR_146207.2:n.2854C>G, NR_146207.2:n.2854C>T, NR_146207.1:n.2862C>G, NR_146207.1:n.2862C>T, NM_001349659.2:c.1634C>G, NM_001349659.2:c.1634C>T, NM_001349659.1:c.1634C>G, NM_001349659.1:c.1634C>T, NM_001349650.2:c.2147C>G, NM_001349650.2:c.2147C>T, NM_001349650.1:c.2147C>G, NM_001349650.1:c.2147C>T, NM_001349662.2:c.1634C>G, NM_001349662.2:c.1634C>T, NM_001349662.1:c.1634C>G, NM_001349662.1:c.1634C>T, NM_001349652.2:c.2147C>G, NM_001349652.2:c.2147C>T, NM_001349652.1:c.2147C>G, NM_001349652.1:c.2147C>T, NM_001349649.2:c.2147C>G, NM_001349649.2:c.2147C>T, NM_001349649.1:c.2147C>G, NM_001349649.1:c.2147C>T, NM_001349654.2:c.2054C>G, NM_001349654.2:c.2054C>T, NM_001349654.1:c.2054C>G, NM_001349654.1:c.2054C>T, NR_146209.2:n.2673C>G, NR_146209.2:n.2673C>T, NR_146209.1:n.2681C>G, NR_146209.1:n.2681C>T, NM_001349653.2:c.2147C>G, NM_001349653.2:c.2147C>T, NM_001349653.1:c.2147C>G, NM_001349653.1:c.2147C>T, NM_001349648.2:c.2147C>G, NM_001349648.2:c.2147C>T, NM_001349648.1:c.2147C>G, NM_001349648.1:c.2147C>T, NM_001349661.2:c.1634C>G, NM_001349661.2:c.1634C>T, NM_001349661.1:c.1634C>G, NM_001349661.1:c.1634C>T, NM_001349669.2:c.1295C>G, NM_001349669.2:c.1295C>T, NM_001349669.1:c.1295C>G, NM_001349669.1:c.1295C>T, NM_001349666.2:c.1295C>G, NM_001349666.2:c.1295C>T, NM_001349666.1:c.1295C>G, NM_001349666.1:c.1295C>T, NM_001349646.2:c.2597C>G, NM_001349646.2:c.2597C>T, NM_001349646.1:c.2597C>G, NM_001349646.1:c.2597C>T, NM_001349668.2:c.1295C>G, NM_001349668.2:c.1295C>T, NM_001349668.1:c.1295C>G, NM_001349668.1:c.1295C>T, NM_001349664.2:c.1295C>G, NM_001349664.2:c.1295C>T, NM_001349664.1:c.1295C>G, NM_001349664.1:c.1295C>T, NM_001349671.2:c.1295C>G, NM_001349671.2:c.1295C>T, NM_001349671.1:c.1295C>G, NM_001349671.1:c.1295C>T, NR_146208.2:n.2361C>G, NR_146208.2:n.2361C>T, NR_146208.1:n.2369C>G, NR_146208.1:n.2369C>T, NM_001349658.2:c.1799C>G, NM_001349658.2:c.1799C>T, NM_001349658.1:c.1799C>G, NM_001349658.1:c.1799C>T, NM_001349670.2:c.1295C>G, NM_001349670.2:c.1295C>T, NM_001349670.1:c.1295C>G, NM_001349670.1:c.1295C>T, NM_001349667.2:c.1295C>G, NM_001349667.2:c.1295C>T, NM_001349667.1:c.1295C>G, NM_001349667.1:c.1295C>T, NM_001349647.2:c.2327C>G, NM_001349647.2:c.2327C>T, NM_001349647.1:c.2327C>G, NM_001349647.1:c.2327C>T, NM_001349672.2:c.1295C>G, NM_001349672.2:c.1295C>T, NM_001349672.1:c.1295C>G, NM_001349672.1:c.1295C>T, NM_001349657.2:c.1799C>G, NM_001349657.2:c.1799C>T, NM_001349657.1:c.1799C>G, NM_001349657.1:c.1799C>T, NM_001349665.2:c.1295C>G, NM_001349665.2:c.1295C>T, NM_001349665.1:c.1295C>G, NM_001349665.1:c.1295C>T, NM_001349663.2:c.1295C>G, NM_001349663.2:c.1295C>T, NM_001349663.1:c.1295C>G, NM_001349663.1:c.1295C>T, XM_047417912.1:c.2744C>G, XM_047417912.1:c.2744C>T, XM_047417919.1:c.2651C>G, XM_047417919.1:c.2651C>T, XM_047417948.1:c.2147C>G, XM_047417948.1:c.2147C>T, XM_047417933.1:c.2561C>G, XM_047417933.1:c.2561C>T, XM_047417939.1:c.2291C>G, XM_047417939.1:c.2291C>T, XM_047417940.1:c.2234C>G, XM_047417940.1:c.2234C>T, XM_047417945.1:c.2198C>G, XM_047417945.1:c.2198C>T, XM_047417936.1:c.2597C>G, XM_047417936.1:c.2597C>T, XR_007058661.1:n.2854C>G, XR_007058661.1:n.2854C>T, XR_007058662.1:n.2725C>G, XR_007058662.1:n.2725C>T, NM_058253.1:c.899C>G, NM_058253.1:c.899C>T, NP_036556.2:p.Ser897Cys, NP_036556.2:p.Ser897Phe, NP_001129610.1:p.Ser885Cys, NP_001129610.1:p.Ser885Phe, NP_001274148.1:p.Ser685Cys, NP_001274148.1:p.Ser685Phe, NP_001274147.1:p.Ser685Cys, NP_001274147.1:p.Ser685Phe, NP_001274150.1:p.Ser716Cys, NP_001274150.1:p.Ser716Phe, NP_001274149.1:p.Ser432Cys, NP_001274149.1:p.Ser432Phe, XP_016856513.2:p.Ser915Cys, XP_016856513.2:p.Ser915Phe, NP_001336589.1:p.Ser545Cys, NP_001336589.1:p.Ser545Phe, NP_001336580.1:p.Ser716Cys, NP_001336580.1:p.Ser716Phe, NP_001336588.1:p.Ser545Cys, NP_001336588.1:p.Ser545Phe, NP_001336579.1:p.Ser716Cys, NP_001336579.1:p.Ser716Phe, NP_001336591.1:p.Ser545Cys, NP_001336591.1:p.Ser545Phe, NP_001336581.1:p.Ser716Cys, NP_001336581.1:p.Ser716Phe, NP_001336578.1:p.Ser716Cys, NP_001336578.1:p.Ser716Phe, NP_001336583.1:p.Ser685Cys, NP_001336583.1:p.Ser685Phe, NP_001336582.1:p.Ser716Cys, NP_001336582.1:p.Ser716Phe, NP_001336577.1:p.Ser716Cys, NP_001336577.1:p.Ser716Phe, NP_001336590.1:p.Ser545Cys, NP_001336590.1:p.Ser545Phe, NP_001336598.1:p.Ser432Cys, NP_001336598.1:p.Ser432Phe, NP_001336595.1:p.Ser432Cys, NP_001336595.1:p.Ser432Phe, NP_001336575.1:p.Ser866Cys, NP_001336575.1:p.Ser866Phe, NP_001336597.1:p.Ser432Cys, NP_001336597.1:p.Ser432Phe, NP_001336593.1:p.Ser432Cys, NP_001336593.1:p.Ser432Phe, NP_001336600.1:p.Ser432Cys, NP_001336600.1:p.Ser432Phe, NP_001336587.1:p.Ser600Cys, NP_001336587.1:p.Ser600Phe, NP_001336599.1:p.Ser432Cys, NP_001336599.1:p.Ser432Phe, NP_001336596.1:p.Ser432Cys, NP_001336596.1:p.Ser432Phe, NP_001336576.1:p.Ser776Cys, NP_001336576.1:p.Ser776Phe, NP_001336601.1:p.Ser432Cys, NP_001336601.1:p.Ser432Phe, NP_001336586.1:p.Ser600Cys, NP_001336586.1:p.Ser600Phe, NP_001336594.1:p.Ser432Cys, NP_001336594.1:p.Ser432Phe, NP_001336592.1:p.Ser432Cys, NP_001336592.1:p.Ser432Phe, XP_047273868.1:p.Ser915Cys, XP_047273868.1:p.Ser915Phe, XP_047273875.1:p.Ser884Cys, XP_047273875.1:p.Ser884Phe, XP_047273904.1:p.Ser716Cys, XP_047273904.1:p.Ser716Phe, XP_047273889.1:p.Ser854Cys, XP_047273889.1:p.Ser854Phe, XP_047273895.1:p.Ser764Cys, XP_047273895.1:p.Ser764Phe, XP_047273896.1:p.Ser745Cys, XP_047273896.1:p.Ser745Phe, XP_047273901.1:p.Ser733Cys, XP_047273901.1:p.Ser733Phe, XP_047273892.1:p.Ser866Cys, XP_047273892.1:p.Ser866Phe

          5.

          rs1487204129 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:213104540 (GRCh38)
            1:213277882 (GRCh37)
            Canonical SPDI:
            NC_000001.11:213104539:A:G
            Gene:
            RPS6KC1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by cluster
            HGVS:
            NC_000001.11:g.213104540A>G, NC_000001.10:g.213277882A>G, NM_012424.6:c.349A>G, NM_012424.5:c.349A>G, NM_012424.4:c.349A>G, NM_012424.3:c.349A>G, NM_001136138.4:c.313A>G, NM_001136138.3:c.313A>G, NM_001136138.2:c.313A>G, NM_001136138.1:c.313A>G, NM_001287219.3:c.-195A>G, NM_001287219.2:c.-195A>G, NM_001287219.1:c.-195A>G, NM_001287218.3:c.-273A>G, NM_001287218.2:c.-273A>G, NM_001287218.1:c.-273A>G, NM_001287221.3:c.-195A>G, NM_001287221.2:c.-195A>G, NM_001287221.1:c.-195A>G, NM_001287220.3:c.-866A>G, NM_001287220.2:c.-866A>G, NM_001287220.1:c.-866A>G, XM_017001024.2:c.403A>G, XM_017001024.1:c.-195A>G, NR_146210.2:n.630A>G, NR_146210.1:n.638A>G, NM_001349660.2:c.-937A>G, NM_001349660.1:c.-937A>G, NM_001349651.2:c.-394A>G, NM_001349651.1:c.-394A>G, NR_146207.2:n.513A>G, NR_146207.1:n.521A>G, NM_001349659.2:c.-939A>G, NM_001349659.1:c.-939A>G, NM_001349650.2:c.-273A>G, NM_001349650.1:c.-273A>G, NM_001349662.2:c.-859A>G, NM_001349662.1:c.-859A>G, NM_001349652.2:c.-344A>G, NM_001349652.1:c.-344A>G, NM_001349649.2:c.-195A>G, NM_001349649.1:c.-195A>G, NM_001349654.2:c.-273A>G, NM_001349654.1:c.-273A>G, NR_146209.2:n.513A>G, NR_146209.1:n.521A>G, NM_001349653.2:c.-273A>G, NM_001349653.1:c.-273A>G, NM_001349648.2:c.-195A>G, NM_001349648.1:c.-195A>G, NM_001349661.2:c.-859A>G, NM_001349661.1:c.-859A>G, NM_001349669.2:c.-944A>G, NM_001349669.1:c.-944A>G, NM_001349666.2:c.-866A>G, NM_001349666.1:c.-866A>G, NM_001349646.2:c.349A>G, NM_001349646.1:c.349A>G, NM_001349668.2:c.-944A>G, NM_001349668.1:c.-944A>G, NM_001349664.2:c.-773A>G, NM_001349664.1:c.-773A>G, NM_001349671.2:c.-772A>G, NM_001349671.1:c.-772A>G, NR_146208.2:n.477A>G, NR_146208.1:n.485A>G, NM_001349658.2:c.-180A>G, NM_001349658.1:c.-180A>G, NM_001349670.2:c.-773A>G, NM_001349670.1:c.-773A>G, NM_001349667.2:c.-866A>G, NM_001349667.1:c.-866A>G, NM_001349647.2:c.349A>G, NM_001349647.1:c.349A>G, NM_001349672.2:c.-866A>G, NM_001349672.1:c.-866A>G, NM_001349657.2:c.-86A>G, NM_001349657.1:c.-86A>G, NM_001349665.2:c.-503A>G, NM_001349665.1:c.-503A>G, NM_001349663.2:c.-316A>G, NM_001349663.1:c.-316A>G, XM_047417912.1:c.403A>G, XM_047417919.1:c.403A>G, XM_047417948.1:c.-195A>G, XM_047417933.1:c.313A>G, XM_047417939.1:c.313A>G, XM_047417940.1:c.349A>G, XM_047417945.1:c.313A>G, XM_047417936.1:c.349A>G, XR_007058661.1:n.513A>G, XR_007058662.1:n.477A>G, NP_036556.2:p.Asn117Asp, NP_001129610.1:p.Asn105Asp, XP_016856513.2:p.Asn135Asp, NP_001336575.1:p.Asn117Asp, NP_001336576.1:p.Asn117Asp, XP_047273868.1:p.Asn135Asp, XP_047273875.1:p.Asn135Asp, XP_047273889.1:p.Asn105Asp, XP_047273895.1:p.Asn105Asp, XP_047273896.1:p.Asn117Asp, XP_047273901.1:p.Asn105Asp, XP_047273892.1:p.Asn117Asp

            6.

            rs1486463533 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:213272634 (GRCh38)
              1:213445977 (GRCh37)
              Canonical SPDI:
              NC_000001.11:213272633:A:C
              Gene:
              RPS6KC1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,terminator_codon_variant,stop_lost
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.213272634A>C, NC_000001.10:g.213445977A>C, NM_012424.6:c.3201A>C, NM_012424.5:c.3201A>C, NM_012424.4:c.3201A>C, NM_012424.3:c.3201A>C, NM_001136138.4:c.3165A>C, NM_001136138.3:c.3165A>C, NM_001136138.2:c.3165A>C, NM_001136138.1:c.3165A>C, NM_001287219.3:c.2565A>C, NM_001287219.2:c.2565A>C, NM_001287219.1:c.2565A>C, NM_001287218.3:c.2565A>C, NM_001287218.2:c.2565A>C, NM_001287218.1:c.2565A>C, NM_001287221.3:c.2658A>C, NM_001287221.2:c.2658A>C, NM_001287221.1:c.2658A>C, NM_001287220.3:c.1806A>C, NM_001287220.2:c.1806A>C, NM_001287220.1:c.1806A>C, NR_146210.2:n.3753A>C, NR_146210.1:n.3761A>C, NM_001349660.2:c.2145A>C, NM_001349660.1:c.2145A>C, NM_001349651.2:c.2658A>C, NM_001349651.1:c.2658A>C, NR_146207.2:n.3636A>C, NR_146207.1:n.3644A>C, NM_001349659.2:c.2145A>C, NM_001349659.1:c.2145A>C, NM_001349650.2:c.2658A>C, NM_001349650.1:c.2658A>C, NM_001349662.2:c.2145A>C, NM_001349662.1:c.2145A>C, NM_001349652.2:c.2658A>C, NM_001349652.1:c.2658A>C, NM_001349649.2:c.2658A>C, NM_001349649.1:c.2658A>C, NM_001349654.2:c.2565A>C, NM_001349654.1:c.2565A>C, NR_146209.2:n.3455A>C, NR_146209.1:n.3463A>C, NM_001349653.2:c.2658A>C, NM_001349653.1:c.2658A>C, NM_001349648.2:c.2658A>C, NM_001349648.1:c.2658A>C, NM_001349661.2:c.2145A>C, NM_001349661.1:c.2145A>C, NM_001349669.2:c.1806A>C, NM_001349669.1:c.1806A>C, NM_001349666.2:c.1806A>C, NM_001349666.1:c.1806A>C, NM_001349646.2:c.3108A>C, NM_001349646.1:c.3108A>C, NM_001349668.2:c.1806A>C, NM_001349668.1:c.1806A>C, NM_001349664.2:c.1806A>C, NM_001349664.1:c.1806A>C, NM_001349671.2:c.1806A>C, NM_001349671.1:c.1806A>C, NR_146208.2:n.3143A>C, NR_146208.1:n.3151A>C, NM_001349658.2:c.2310A>C, NM_001349658.1:c.2310A>C, NM_001349670.2:c.1806A>C, NM_001349670.1:c.1806A>C, NM_001349667.2:c.1806A>C, NM_001349667.1:c.1806A>C, NM_001349647.2:c.2838A>C, NM_001349647.1:c.2838A>C, NM_001349672.2:c.1716A>C, NM_001349672.1:c.1716A>C, NM_001349657.2:c.2310A>C, NM_001349657.1:c.2310A>C, NM_001349665.2:c.1806A>C, NM_001349665.1:c.1806A>C, NM_001349663.2:c.1806A>C, NM_001349663.1:c.1806A>C, XM_047417912.1:c.3255A>C, XM_047417919.1:c.3162A>C, XM_047417948.1:c.2658A>C, XM_047417933.1:c.3072A>C, XM_047417939.1:c.2802A>C, XM_047417940.1:c.2745A>C, XM_047417945.1:c.2709A>C, NM_058253.1:c.1410A>C, NP_036556.2:p.Ter1067Cys, NP_001129610.1:p.Ter1055Cys, NP_001274148.1:p.Ter855Cys, NP_001274147.1:p.Ter855Cys, NP_001274150.1:p.Ter886Cys, NP_001274149.1:p.Ter602Cys, NP_001336589.1:p.Ter715Cys, NP_001336580.1:p.Ter886Cys, NP_001336588.1:p.Ter715Cys, NP_001336579.1:p.Ter886Cys, NP_001336591.1:p.Ter715Cys, NP_001336581.1:p.Ter886Cys, NP_001336578.1:p.Ter886Cys, NP_001336583.1:p.Ter855Cys, NP_001336582.1:p.Ter886Cys, NP_001336577.1:p.Ter886Cys, NP_001336590.1:p.Ter715Cys, NP_001336598.1:p.Ter602Cys, NP_001336595.1:p.Ter602Cys, NP_001336575.1:p.Ter1036Cys, NP_001336597.1:p.Ter602Cys, NP_001336593.1:p.Ter602Cys, NP_001336600.1:p.Ter602Cys, NP_001336587.1:p.Ter770Cys, NP_001336599.1:p.Ter602Cys, NP_001336596.1:p.Ter602Cys, NP_001336576.1:p.Ter946Cys, NP_001336601.1:p.Ter572Cys, NP_001336586.1:p.Ter770Cys, NP_001336594.1:p.Ter602Cys, NP_001336592.1:p.Ter602Cys, XP_047273868.1:p.Ter1085Cys, XP_047273875.1:p.Ter1054Cys, XP_047273904.1:p.Ter886Cys, XP_047273889.1:p.Ter1024Cys, XP_047273895.1:p.Ter934Cys, XP_047273896.1:p.Ter915Cys, XP_047273901.1:p.Ter903Cys

              7.

              rs1486404145 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:213241525 (GRCh38)
                1:213414868 (GRCh37)
                Canonical SPDI:
                NC_000001.11:213241524:T:C
                Gene:
                RPS6KC1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.213241525T>C, NC_000001.10:g.213414868T>C, NM_012424.6:c.2049T>C, NM_012424.5:c.2049T>C, NM_012424.4:c.2049T>C, NM_012424.3:c.2049T>C, NM_001136138.4:c.2013T>C, NM_001136138.3:c.2013T>C, NM_001136138.2:c.2013T>C, NM_001136138.1:c.2013T>C, NM_001287219.3:c.1413T>C, NM_001287219.2:c.1413T>C, NM_001287219.1:c.1413T>C, NM_001287218.3:c.1413T>C, NM_001287218.2:c.1413T>C, NM_001287218.1:c.1413T>C, NM_001287221.3:c.1506T>C, NM_001287221.2:c.1506T>C, NM_001287221.1:c.1506T>C, NM_001287220.3:c.654T>C, NM_001287220.2:c.654T>C, NM_001287220.1:c.654T>C, XM_017001024.2:c.2103T>C, XM_017001024.1:c.1506T>C, NR_146210.2:n.2330T>C, NR_146210.1:n.2338T>C, NM_001349660.2:c.993T>C, NM_001349660.1:c.993T>C, NM_001349651.2:c.1506T>C, NM_001349651.1:c.1506T>C, NR_146207.2:n.2213T>C, NR_146207.1:n.2221T>C, NM_001349659.2:c.993T>C, NM_001349659.1:c.993T>C, NM_001349650.2:c.1506T>C, NM_001349650.1:c.1506T>C, NM_001349662.2:c.993T>C, NM_001349662.1:c.993T>C, NM_001349652.2:c.1506T>C, NM_001349652.1:c.1506T>C, NM_001349649.2:c.1506T>C, NM_001349649.1:c.1506T>C, NM_001349654.2:c.1413T>C, NM_001349654.1:c.1413T>C, NR_146209.2:n.2032T>C, NR_146209.1:n.2040T>C, NM_001349653.2:c.1506T>C, NM_001349653.1:c.1506T>C, NM_001349648.2:c.1506T>C, NM_001349648.1:c.1506T>C, NM_001349661.2:c.993T>C, NM_001349661.1:c.993T>C, NM_001349669.2:c.654T>C, NM_001349669.1:c.654T>C, NM_001349666.2:c.654T>C, NM_001349666.1:c.654T>C, NM_001349646.2:c.1956T>C, NM_001349646.1:c.1956T>C, NM_001349668.2:c.654T>C, NM_001349668.1:c.654T>C, NM_001349664.2:c.654T>C, NM_001349664.1:c.654T>C, NM_001349671.2:c.654T>C, NM_001349671.1:c.654T>C, NR_146208.2:n.1720T>C, NR_146208.1:n.1728T>C, NM_001349658.2:c.1158T>C, NM_001349658.1:c.1158T>C, NM_001349670.2:c.654T>C, NM_001349670.1:c.654T>C, NM_001349667.2:c.654T>C, NM_001349667.1:c.654T>C, NM_001349647.2:c.1686T>C, NM_001349647.1:c.1686T>C, NM_001349672.2:c.654T>C, NM_001349672.1:c.654T>C, NM_001349657.2:c.1158T>C, NM_001349657.1:c.1158T>C, NM_001349665.2:c.654T>C, NM_001349665.1:c.654T>C, NM_001349663.2:c.654T>C, NM_001349663.1:c.654T>C, XM_047417912.1:c.2103T>C, XM_047417919.1:c.2010T>C, XM_047417948.1:c.1506T>C, XM_047417933.1:c.1920T>C, XM_047417939.1:c.1650T>C, XM_047417940.1:c.1593T>C, XM_047417945.1:c.1557T>C, XM_047417936.1:c.1956T>C, XR_007058661.1:n.2213T>C, XR_007058662.1:n.2084T>C, NM_058253.1:c.258T>C

                8.

                rs1485933258 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:213241363 (GRCh38)
                  1:213414706 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:213241362:G:A
                  Gene:
                  RPS6KC1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.213241363G>A, NC_000001.10:g.213414706G>A, NM_012424.6:c.1887G>A, NM_012424.5:c.1887G>A, NM_012424.4:c.1887G>A, NM_012424.3:c.1887G>A, NM_001136138.4:c.1851G>A, NM_001136138.3:c.1851G>A, NM_001136138.2:c.1851G>A, NM_001136138.1:c.1851G>A, NM_001287219.3:c.1251G>A, NM_001287219.2:c.1251G>A, NM_001287219.1:c.1251G>A, NM_001287218.3:c.1251G>A, NM_001287218.2:c.1251G>A, NM_001287218.1:c.1251G>A, NM_001287221.3:c.1344G>A, NM_001287221.2:c.1344G>A, NM_001287221.1:c.1344G>A, NM_001287220.3:c.492G>A, NM_001287220.2:c.492G>A, NM_001287220.1:c.492G>A, XM_017001024.2:c.1941G>A, XM_017001024.1:c.1344G>A, NR_146210.2:n.2168G>A, NR_146210.1:n.2176G>A, NM_001349660.2:c.831G>A, NM_001349660.1:c.831G>A, NM_001349651.2:c.1344G>A, NM_001349651.1:c.1344G>A, NR_146207.2:n.2051G>A, NR_146207.1:n.2059G>A, NM_001349659.2:c.831G>A, NM_001349659.1:c.831G>A, NM_001349650.2:c.1344G>A, NM_001349650.1:c.1344G>A, NM_001349662.2:c.831G>A, NM_001349662.1:c.831G>A, NM_001349652.2:c.1344G>A, NM_001349652.1:c.1344G>A, NM_001349649.2:c.1344G>A, NM_001349649.1:c.1344G>A, NM_001349654.2:c.1251G>A, NM_001349654.1:c.1251G>A, NR_146209.2:n.1870G>A, NR_146209.1:n.1878G>A, NM_001349653.2:c.1344G>A, NM_001349653.1:c.1344G>A, NM_001349648.2:c.1344G>A, NM_001349648.1:c.1344G>A, NM_001349661.2:c.831G>A, NM_001349661.1:c.831G>A, NM_001349669.2:c.492G>A, NM_001349669.1:c.492G>A, NM_001349666.2:c.492G>A, NM_001349666.1:c.492G>A, NM_001349646.2:c.1794G>A, NM_001349646.1:c.1794G>A, NM_001349668.2:c.492G>A, NM_001349668.1:c.492G>A, NM_001349664.2:c.492G>A, NM_001349664.1:c.492G>A, NM_001349671.2:c.492G>A, NM_001349671.1:c.492G>A, NR_146208.2:n.1558G>A, NR_146208.1:n.1566G>A, NM_001349658.2:c.996G>A, NM_001349658.1:c.996G>A, NM_001349670.2:c.492G>A, NM_001349670.1:c.492G>A, NM_001349667.2:c.492G>A, NM_001349667.1:c.492G>A, NM_001349647.2:c.1524G>A, NM_001349647.1:c.1524G>A, NM_001349672.2:c.492G>A, NM_001349672.1:c.492G>A, NM_001349657.2:c.996G>A, NM_001349657.1:c.996G>A, NM_001349665.2:c.492G>A, NM_001349665.1:c.492G>A, NM_001349663.2:c.492G>A, NM_001349663.1:c.492G>A, XM_047417912.1:c.1941G>A, XM_047417919.1:c.1848G>A, XM_047417948.1:c.1344G>A, XM_047417933.1:c.1758G>A, XM_047417939.1:c.1488G>A, XM_047417940.1:c.1431G>A, XM_047417945.1:c.1395G>A, XM_047417936.1:c.1794G>A, XR_007058661.1:n.2051G>A, XR_007058662.1:n.1922G>A, NM_058253.1:c.96G>A

                  9.

                  rs1485198110 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:213272601 (GRCh38)
                    1:213445944 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:213272600:T:C
                    Gene:
                    RPS6KC1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.213272601T>C, NC_000001.10:g.213445944T>C, NM_012424.6:c.3168T>C, NM_012424.5:c.3168T>C, NM_012424.4:c.3168T>C, NM_012424.3:c.3168T>C, NM_001136138.4:c.3132T>C, NM_001136138.3:c.3132T>C, NM_001136138.2:c.3132T>C, NM_001136138.1:c.3132T>C, NM_001287219.3:c.2532T>C, NM_001287219.2:c.2532T>C, NM_001287219.1:c.2532T>C, NM_001287218.3:c.2532T>C, NM_001287218.2:c.2532T>C, NM_001287218.1:c.2532T>C, NM_001287221.3:c.2625T>C, NM_001287221.2:c.2625T>C, NM_001287221.1:c.2625T>C, NM_001287220.3:c.1773T>C, NM_001287220.2:c.1773T>C, NM_001287220.1:c.1773T>C, NR_146210.2:n.3720T>C, NR_146210.1:n.3728T>C, NM_001349660.2:c.2112T>C, NM_001349660.1:c.2112T>C, NM_001349651.2:c.2625T>C, NM_001349651.1:c.2625T>C, NR_146207.2:n.3603T>C, NR_146207.1:n.3611T>C, NM_001349659.2:c.2112T>C, NM_001349659.1:c.2112T>C, NM_001349650.2:c.2625T>C, NM_001349650.1:c.2625T>C, NM_001349662.2:c.2112T>C, NM_001349662.1:c.2112T>C, NM_001349652.2:c.2625T>C, NM_001349652.1:c.2625T>C, NM_001349649.2:c.2625T>C, NM_001349649.1:c.2625T>C, NM_001349654.2:c.2532T>C, NM_001349654.1:c.2532T>C, NR_146209.2:n.3422T>C, NR_146209.1:n.3430T>C, NM_001349653.2:c.2625T>C, NM_001349653.1:c.2625T>C, NM_001349648.2:c.2625T>C, NM_001349648.1:c.2625T>C, NM_001349661.2:c.2112T>C, NM_001349661.1:c.2112T>C, NM_001349669.2:c.1773T>C, NM_001349669.1:c.1773T>C, NM_001349666.2:c.1773T>C, NM_001349666.1:c.1773T>C, NM_001349646.2:c.3075T>C, NM_001349646.1:c.3075T>C, NM_001349668.2:c.1773T>C, NM_001349668.1:c.1773T>C, NM_001349664.2:c.1773T>C, NM_001349664.1:c.1773T>C, NM_001349671.2:c.1773T>C, NM_001349671.1:c.1773T>C, NR_146208.2:n.3110T>C, NR_146208.1:n.3118T>C, NM_001349658.2:c.2277T>C, NM_001349658.1:c.2277T>C, NM_001349670.2:c.1773T>C, NM_001349670.1:c.1773T>C, NM_001349667.2:c.1773T>C, NM_001349667.1:c.1773T>C, NM_001349647.2:c.2805T>C, NM_001349647.1:c.2805T>C, NM_001349672.2:c.1683T>C, NM_001349672.1:c.1683T>C, NM_001349657.2:c.2277T>C, NM_001349657.1:c.2277T>C, NM_001349665.2:c.1773T>C, NM_001349665.1:c.1773T>C, NM_001349663.2:c.1773T>C, NM_001349663.1:c.1773T>C, XM_047417912.1:c.3222T>C, XM_047417919.1:c.3129T>C, XM_047417948.1:c.2625T>C, XM_047417933.1:c.3039T>C, XM_047417939.1:c.2769T>C, XM_047417940.1:c.2712T>C, XM_047417945.1:c.2676T>C, NM_058253.1:c.1377T>C

                    10.

                    rs1484465576 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:213167957 (GRCh38)
                      1:213341300 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:213167956:T:C
                      Gene:
                      RPS6KC1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.213167957T>C, NC_000001.10:g.213341300T>C, NM_012424.6:c.935T>C, NM_012424.5:c.935T>C, NM_012424.4:c.935T>C, NM_012424.3:c.935T>C, NM_001136138.4:c.899T>C, NM_001136138.3:c.899T>C, NM_001136138.2:c.899T>C, NM_001136138.1:c.899T>C, NM_001287219.3:c.392T>C, NM_001287219.2:c.392T>C, NM_001287219.1:c.392T>C, NM_001287218.3:c.392T>C, NM_001287218.2:c.392T>C, NM_001287218.1:c.392T>C, NM_001287221.3:c.392T>C, NM_001287221.2:c.392T>C, NM_001287221.1:c.392T>C, NM_001287220.3:c.-280T>C, NM_001287220.2:c.-280T>C, NM_001287220.1:c.-280T>C, XM_017001024.2:c.989T>C, XM_017001024.1:c.392T>C, NR_146210.2:n.1216T>C, NR_146210.1:n.1224T>C, NM_001349660.2:c.-273T>C, NM_001349660.1:c.-273T>C, NM_001349651.2:c.392T>C, NM_001349651.1:c.392T>C, NR_146207.2:n.1099T>C, NR_146207.1:n.1107T>C, NM_001349659.2:c.-353T>C, NM_001349659.1:c.-353T>C, NM_001349650.2:c.392T>C, NM_001349650.1:c.392T>C, NM_001349662.2:c.-273T>C, NM_001349662.1:c.-273T>C, NM_001349652.2:c.392T>C, NM_001349652.1:c.392T>C, NM_001349649.2:c.392T>C, NM_001349649.1:c.392T>C, NM_001349654.2:c.392T>C, NM_001349654.1:c.392T>C, NR_146209.2:n.1099T>C, NR_146209.1:n.1107T>C, NM_001349653.2:c.392T>C, NM_001349653.1:c.392T>C, NM_001349648.2:c.392T>C, NM_001349648.1:c.392T>C, NM_001349661.2:c.-273T>C, NM_001349661.1:c.-273T>C, NM_001349669.2:c.-280T>C, NM_001349669.1:c.-280T>C, NM_001349666.2:c.-280T>C, NM_001349666.1:c.-280T>C, NM_001349646.2:c.935T>C, NM_001349646.1:c.935T>C, NM_001349668.2:c.-280T>C, NM_001349668.1:c.-280T>C, NM_001349664.2:c.-187T>C, NM_001349664.1:c.-187T>C, NM_001349671.2:c.-280T>C, NM_001349671.1:c.-280T>C, NR_146208.2:n.606T>C, NR_146208.1:n.614T>C, NM_001349658.2:c.44T>C, NM_001349658.1:c.44T>C, NM_001349670.2:c.-187T>C, NM_001349670.1:c.-187T>C, NM_001349667.2:c.-280T>C, NM_001349667.1:c.-280T>C, NM_001349647.2:c.572T>C, NM_001349647.1:c.572T>C, NM_001349672.2:c.-280T>C, NM_001349672.1:c.-280T>C, NM_001349657.2:c.44T>C, NM_001349657.1:c.44T>C, NM_001349665.2:c.-280T>C, NM_001349665.1:c.-280T>C, NM_001349663.2:c.-187T>C, NM_001349663.1:c.-187T>C, XM_047417912.1:c.989T>C, XM_047417919.1:c.989T>C, XM_047417948.1:c.392T>C, XM_047417933.1:c.899T>C, XM_047417939.1:c.536T>C, XM_047417940.1:c.572T>C, XM_047417945.1:c.536T>C, XM_047417936.1:c.935T>C, XR_007058661.1:n.1099T>C, XR_007058662.1:n.1063T>C, NP_036556.2:p.Leu312Pro, NP_001129610.1:p.Leu300Pro, NP_001274148.1:p.Leu131Pro, NP_001274147.1:p.Leu131Pro, NP_001274150.1:p.Leu131Pro, XP_016856513.2:p.Leu330Pro, NP_001336580.1:p.Leu131Pro, NP_001336579.1:p.Leu131Pro, NP_001336581.1:p.Leu131Pro, NP_001336578.1:p.Leu131Pro, NP_001336583.1:p.Leu131Pro, NP_001336582.1:p.Leu131Pro, NP_001336577.1:p.Leu131Pro, NP_001336575.1:p.Leu312Pro, NP_001336587.1:p.Leu15Pro, NP_001336576.1:p.Leu191Pro, NP_001336586.1:p.Leu15Pro, XP_047273868.1:p.Leu330Pro, XP_047273875.1:p.Leu330Pro, XP_047273904.1:p.Leu131Pro, XP_047273889.1:p.Leu300Pro, XP_047273895.1:p.Leu179Pro, XP_047273896.1:p.Leu191Pro, XP_047273901.1:p.Leu179Pro, XP_047273892.1:p.Leu312Pro

                      11.

                      rs1482500915 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        1:213117342 (GRCh38)
                        1:213290684 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:213117341:A:T
                        Gene:
                        RPS6KC1 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000001.11:g.213117342A>T, NC_000001.10:g.213290684A>T, NM_012424.6:c.404A>T, NM_012424.5:c.404A>T, NM_012424.4:c.404A>T, NM_012424.3:c.404A>T, NM_001136138.4:c.368A>T, NM_001136138.3:c.368A>T, NM_001136138.2:c.368A>T, NM_001136138.1:c.368A>T, NM_001287219.3:c.-140A>T, NM_001287219.2:c.-140A>T, NM_001287219.1:c.-140A>T, NM_001287218.3:c.-218A>T, NM_001287218.2:c.-218A>T, NM_001287218.1:c.-218A>T, NM_001287221.3:c.-140A>T, NM_001287221.2:c.-140A>T, NM_001287221.1:c.-140A>T, NM_001287220.3:c.-811A>T, NM_001287220.2:c.-811A>T, NM_001287220.1:c.-811A>T, XM_017001024.2:c.458A>T, XM_017001024.1:c.-140A>T, NR_146210.2:n.685A>T, NR_146210.1:n.693A>T, NM_001349660.2:c.-882A>T, NM_001349660.1:c.-882A>T, NM_001349651.2:c.-339A>T, NM_001349651.1:c.-339A>T, NR_146207.2:n.568A>T, NR_146207.1:n.576A>T, NM_001349659.2:c.-884A>T, NM_001349659.1:c.-884A>T, NM_001349650.2:c.-218A>T, NM_001349650.1:c.-218A>T, NM_001349662.2:c.-804A>T, NM_001349662.1:c.-804A>T, NM_001349652.2:c.-289A>T, NM_001349652.1:c.-289A>T, NM_001349649.2:c.-140A>T, NM_001349649.1:c.-140A>T, NM_001349654.2:c.-218A>T, NM_001349654.1:c.-218A>T, NR_146209.2:n.568A>T, NR_146209.1:n.576A>T, NM_001349653.2:c.-218A>T, NM_001349653.1:c.-218A>T, NM_001349648.2:c.-140A>T, NM_001349648.1:c.-140A>T, NM_001349661.2:c.-804A>T, NM_001349661.1:c.-804A>T, NM_001349669.2:c.-889A>T, NM_001349669.1:c.-889A>T, NM_001349666.2:c.-811A>T, NM_001349666.1:c.-811A>T, NM_001349646.2:c.404A>T, NM_001349646.1:c.404A>T, NM_001349668.2:c.-889A>T, NM_001349668.1:c.-889A>T, NM_001349664.2:c.-718A>T, NM_001349664.1:c.-718A>T, NM_001349658.2:c.-125A>T, NM_001349658.1:c.-125A>T, NM_001349670.2:c.-718A>T, NM_001349670.1:c.-718A>T, NM_001349667.2:c.-811A>T, NM_001349667.1:c.-811A>T, NM_001349647.2:c.404A>T, NM_001349647.1:c.404A>T, NM_001349672.2:c.-811A>T, NM_001349672.1:c.-811A>T, NM_001349665.2:c.-448A>T, NM_001349665.1:c.-448A>T, XM_047417912.1:c.458A>T, XM_047417919.1:c.458A>T, XM_047417948.1:c.-140A>T, XM_047417933.1:c.368A>T, XM_047417939.1:c.368A>T, XM_047417940.1:c.404A>T, XM_047417945.1:c.368A>T, XM_047417936.1:c.404A>T, XR_007058661.1:n.568A>T, XR_007058662.1:n.532A>T, NP_036556.2:p.Glu135Val, NP_001129610.1:p.Glu123Val, XP_016856513.2:p.Glu153Val, NP_001336575.1:p.Glu135Val, NP_001336576.1:p.Glu135Val, XP_047273868.1:p.Glu153Val, XP_047273875.1:p.Glu153Val, XP_047273889.1:p.Glu123Val, XP_047273895.1:p.Glu123Val, XP_047273896.1:p.Glu135Val, XP_047273901.1:p.Glu123Val, XP_047273892.1:p.Glu135Val

                        12.

                        rs1482149027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:213240911 (GRCh38)
                          1:213414254 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:213240910:A:G
                          Gene:
                          RPS6KC1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_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_000001.11:g.213240911A>G, NC_000001.10:g.213414254A>G, NM_012424.6:c.1435A>G, NM_012424.5:c.1435A>G, NM_012424.4:c.1435A>G, NM_012424.3:c.1435A>G, NM_001136138.4:c.1399A>G, NM_001136138.3:c.1399A>G, NM_001136138.2:c.1399A>G, NM_001136138.1:c.1399A>G, NM_001287219.3:c.799A>G, NM_001287219.2:c.799A>G, NM_001287219.1:c.799A>G, NM_001287218.3:c.799A>G, NM_001287218.2:c.799A>G, NM_001287218.1:c.799A>G, NM_001287221.3:c.892A>G, NM_001287221.2:c.892A>G, NM_001287221.1:c.892A>G, NM_001287220.3:c.40A>G, NM_001287220.2:c.40A>G, NM_001287220.1:c.40A>G, XM_017001024.2:c.1489A>G, XM_017001024.1:c.892A>G, NR_146210.2:n.1716A>G, NR_146210.1:n.1724A>G, NM_001349660.2:c.379A>G, NM_001349660.1:c.379A>G, NM_001349651.2:c.892A>G, NM_001349651.1:c.892A>G, NR_146207.2:n.1599A>G, NR_146207.1:n.1607A>G, NM_001349659.2:c.379A>G, NM_001349659.1:c.379A>G, NM_001349650.2:c.892A>G, NM_001349650.1:c.892A>G, NM_001349662.2:c.379A>G, NM_001349662.1:c.379A>G, NM_001349652.2:c.892A>G, NM_001349652.1:c.892A>G, NM_001349649.2:c.892A>G, NM_001349649.1:c.892A>G, NM_001349654.2:c.799A>G, NM_001349654.1:c.799A>G, NR_146209.2:n.1418A>G, NR_146209.1:n.1426A>G, NM_001349653.2:c.892A>G, NM_001349653.1:c.892A>G, NM_001349648.2:c.892A>G, NM_001349648.1:c.892A>G, NM_001349661.2:c.379A>G, NM_001349661.1:c.379A>G, NM_001349669.2:c.40A>G, NM_001349669.1:c.40A>G, NM_001349666.2:c.40A>G, NM_001349666.1:c.40A>G, NM_001349646.2:c.1342A>G, NM_001349646.1:c.1342A>G, NM_001349668.2:c.40A>G, NM_001349668.1:c.40A>G, NM_001349664.2:c.40A>G, NM_001349664.1:c.40A>G, NM_001349671.2:c.40A>G, NM_001349671.1:c.40A>G, NR_146208.2:n.1106A>G, NR_146208.1:n.1114A>G, NM_001349658.2:c.544A>G, NM_001349658.1:c.544A>G, NM_001349670.2:c.40A>G, NM_001349670.1:c.40A>G, NM_001349667.2:c.40A>G, NM_001349667.1:c.40A>G, NM_001349647.2:c.1072A>G, NM_001349647.1:c.1072A>G, NM_001349672.2:c.40A>G, NM_001349672.1:c.40A>G, NM_001349657.2:c.544A>G, NM_001349657.1:c.544A>G, NM_001349665.2:c.40A>G, NM_001349665.1:c.40A>G, NM_001349663.2:c.40A>G, NM_001349663.1:c.40A>G, XM_047417912.1:c.1489A>G, XM_047417919.1:c.1396A>G, XM_047417948.1:c.892A>G, XM_047417933.1:c.1306A>G, XM_047417939.1:c.1036A>G, XM_047417940.1:c.979A>G, XM_047417945.1:c.943A>G, XM_047417936.1:c.1342A>G, XR_007058661.1:n.1599A>G, XR_007058662.1:n.1470A>G, NP_036556.2:p.Ser479Gly, NP_001129610.1:p.Ser467Gly, NP_001274148.1:p.Ser267Gly, NP_001274147.1:p.Ser267Gly, NP_001274150.1:p.Ser298Gly, NP_001274149.1:p.Ser14Gly, XP_016856513.2:p.Ser497Gly, NP_001336589.1:p.Ser127Gly, NP_001336580.1:p.Ser298Gly, NP_001336588.1:p.Ser127Gly, NP_001336579.1:p.Ser298Gly, NP_001336591.1:p.Ser127Gly, NP_001336581.1:p.Ser298Gly, NP_001336578.1:p.Ser298Gly, NP_001336583.1:p.Ser267Gly, NP_001336582.1:p.Ser298Gly, NP_001336577.1:p.Ser298Gly, NP_001336590.1:p.Ser127Gly, NP_001336598.1:p.Ser14Gly, NP_001336595.1:p.Ser14Gly, NP_001336575.1:p.Ser448Gly, NP_001336597.1:p.Ser14Gly, NP_001336593.1:p.Ser14Gly, NP_001336600.1:p.Ser14Gly, NP_001336587.1:p.Ser182Gly, NP_001336599.1:p.Ser14Gly, NP_001336596.1:p.Ser14Gly, NP_001336576.1:p.Ser358Gly, NP_001336601.1:p.Ser14Gly, NP_001336586.1:p.Ser182Gly, NP_001336594.1:p.Ser14Gly, NP_001336592.1:p.Ser14Gly, XP_047273868.1:p.Ser497Gly, XP_047273875.1:p.Ser466Gly, XP_047273904.1:p.Ser298Gly, XP_047273889.1:p.Ser436Gly, XP_047273895.1:p.Ser346Gly, XP_047273896.1:p.Ser327Gly, XP_047273901.1:p.Ser315Gly, XP_047273892.1:p.Ser448Gly

                          13.

                          rs1481218524 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:213241594 (GRCh38)
                            1:213414937 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:213241593:A:G
                            Gene:
                            RPS6KC1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.213241594A>G, NC_000001.10:g.213414937A>G, NM_012424.6:c.2118A>G, NM_012424.5:c.2118A>G, NM_012424.4:c.2118A>G, NM_012424.3:c.2118A>G, NM_001136138.4:c.2082A>G, NM_001136138.3:c.2082A>G, NM_001136138.2:c.2082A>G, NM_001136138.1:c.2082A>G, NM_001287219.3:c.1482A>G, NM_001287219.2:c.1482A>G, NM_001287219.1:c.1482A>G, NM_001287218.3:c.1482A>G, NM_001287218.2:c.1482A>G, NM_001287218.1:c.1482A>G, NM_001287221.3:c.1575A>G, NM_001287221.2:c.1575A>G, NM_001287221.1:c.1575A>G, NM_001287220.3:c.723A>G, NM_001287220.2:c.723A>G, NM_001287220.1:c.723A>G, XM_017001024.2:c.2172A>G, XM_017001024.1:c.1575A>G, NR_146210.2:n.2399A>G, NR_146210.1:n.2407A>G, NM_001349660.2:c.1062A>G, NM_001349660.1:c.1062A>G, NM_001349651.2:c.1575A>G, NM_001349651.1:c.1575A>G, NR_146207.2:n.2282A>G, NR_146207.1:n.2290A>G, NM_001349659.2:c.1062A>G, NM_001349659.1:c.1062A>G, NM_001349650.2:c.1575A>G, NM_001349650.1:c.1575A>G, NM_001349662.2:c.1062A>G, NM_001349662.1:c.1062A>G, NM_001349652.2:c.1575A>G, NM_001349652.1:c.1575A>G, NM_001349649.2:c.1575A>G, NM_001349649.1:c.1575A>G, NM_001349654.2:c.1482A>G, NM_001349654.1:c.1482A>G, NR_146209.2:n.2101A>G, NR_146209.1:n.2109A>G, NM_001349653.2:c.1575A>G, NM_001349653.1:c.1575A>G, NM_001349648.2:c.1575A>G, NM_001349648.1:c.1575A>G, NM_001349661.2:c.1062A>G, NM_001349661.1:c.1062A>G, NM_001349669.2:c.723A>G, NM_001349669.1:c.723A>G, NM_001349666.2:c.723A>G, NM_001349666.1:c.723A>G, NM_001349646.2:c.2025A>G, NM_001349646.1:c.2025A>G, NM_001349668.2:c.723A>G, NM_001349668.1:c.723A>G, NM_001349664.2:c.723A>G, NM_001349664.1:c.723A>G, NM_001349671.2:c.723A>G, NM_001349671.1:c.723A>G, NR_146208.2:n.1789A>G, NR_146208.1:n.1797A>G, NM_001349658.2:c.1227A>G, NM_001349658.1:c.1227A>G, NM_001349670.2:c.723A>G, NM_001349670.1:c.723A>G, NM_001349667.2:c.723A>G, NM_001349667.1:c.723A>G, NM_001349647.2:c.1755A>G, NM_001349647.1:c.1755A>G, NM_001349672.2:c.723A>G, NM_001349672.1:c.723A>G, NM_001349657.2:c.1227A>G, NM_001349657.1:c.1227A>G, NM_001349665.2:c.723A>G, NM_001349665.1:c.723A>G, NM_001349663.2:c.723A>G, NM_001349663.1:c.723A>G, XM_047417912.1:c.2172A>G, XM_047417919.1:c.2079A>G, XM_047417948.1:c.1575A>G, XM_047417933.1:c.1989A>G, XM_047417939.1:c.1719A>G, XM_047417940.1:c.1662A>G, XM_047417945.1:c.1626A>G, XM_047417936.1:c.2025A>G, XR_007058661.1:n.2282A>G, XR_007058662.1:n.2153A>G, NM_058253.1:c.327A>G

                            14.

                            rs1480755350 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:213241691 (GRCh38)
                              1:213415034 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:213241690:G:A
                              Gene:
                              RPS6KC1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              NC_000001.11:g.213241691G>A, NC_000001.10:g.213415034G>A, NM_012424.6:c.2215G>A, NM_012424.5:c.2215G>A, NM_012424.4:c.2215G>A, NM_012424.3:c.2215G>A, NM_001136138.4:c.2179G>A, NM_001136138.3:c.2179G>A, NM_001136138.2:c.2179G>A, NM_001136138.1:c.2179G>A, NM_001287219.3:c.1579G>A, NM_001287219.2:c.1579G>A, NM_001287219.1:c.1579G>A, NM_001287218.3:c.1579G>A, NM_001287218.2:c.1579G>A, NM_001287218.1:c.1579G>A, NM_001287221.3:c.1672G>A, NM_001287221.2:c.1672G>A, NM_001287221.1:c.1672G>A, NM_001287220.3:c.820G>A, NM_001287220.2:c.820G>A, NM_001287220.1:c.820G>A, XM_017001024.2:c.2269G>A, XM_017001024.1:c.1672G>A, NR_146210.2:n.2496G>A, NR_146210.1:n.2504G>A, NM_001349660.2:c.1159G>A, NM_001349660.1:c.1159G>A, NM_001349651.2:c.1672G>A, NM_001349651.1:c.1672G>A, NR_146207.2:n.2379G>A, NR_146207.1:n.2387G>A, NM_001349659.2:c.1159G>A, NM_001349659.1:c.1159G>A, NM_001349650.2:c.1672G>A, NM_001349650.1:c.1672G>A, NM_001349662.2:c.1159G>A, NM_001349662.1:c.1159G>A, NM_001349652.2:c.1672G>A, NM_001349652.1:c.1672G>A, NM_001349649.2:c.1672G>A, NM_001349649.1:c.1672G>A, NM_001349654.2:c.1579G>A, NM_001349654.1:c.1579G>A, NR_146209.2:n.2198G>A, NR_146209.1:n.2206G>A, NM_001349653.2:c.1672G>A, NM_001349653.1:c.1672G>A, NM_001349648.2:c.1672G>A, NM_001349648.1:c.1672G>A, NM_001349661.2:c.1159G>A, NM_001349661.1:c.1159G>A, NM_001349669.2:c.820G>A, NM_001349669.1:c.820G>A, NM_001349666.2:c.820G>A, NM_001349666.1:c.820G>A, NM_001349646.2:c.2122G>A, NM_001349646.1:c.2122G>A, NM_001349668.2:c.820G>A, NM_001349668.1:c.820G>A, NM_001349664.2:c.820G>A, NM_001349664.1:c.820G>A, NM_001349671.2:c.820G>A, NM_001349671.1:c.820G>A, NR_146208.2:n.1886G>A, NR_146208.1:n.1894G>A, NM_001349658.2:c.1324G>A, NM_001349658.1:c.1324G>A, NM_001349670.2:c.820G>A, NM_001349670.1:c.820G>A, NM_001349667.2:c.820G>A, NM_001349667.1:c.820G>A, NM_001349647.2:c.1852G>A, NM_001349647.1:c.1852G>A, NM_001349672.2:c.820G>A, NM_001349672.1:c.820G>A, NM_001349657.2:c.1324G>A, NM_001349657.1:c.1324G>A, NM_001349665.2:c.820G>A, NM_001349665.1:c.820G>A, NM_001349663.2:c.820G>A, NM_001349663.1:c.820G>A, XM_047417912.1:c.2269G>A, XM_047417919.1:c.2176G>A, XM_047417948.1:c.1672G>A, XM_047417933.1:c.2086G>A, XM_047417939.1:c.1816G>A, XM_047417940.1:c.1759G>A, XM_047417945.1:c.1723G>A, XM_047417936.1:c.2122G>A, XR_007058661.1:n.2379G>A, XR_007058662.1:n.2250G>A, NM_058253.1:c.424G>A, NP_036556.2:p.Glu739Lys, NP_001129610.1:p.Glu727Lys, NP_001274148.1:p.Glu527Lys, NP_001274147.1:p.Glu527Lys, NP_001274150.1:p.Glu558Lys, NP_001274149.1:p.Glu274Lys, XP_016856513.2:p.Glu757Lys, NP_001336589.1:p.Glu387Lys, NP_001336580.1:p.Glu558Lys, NP_001336588.1:p.Glu387Lys, NP_001336579.1:p.Glu558Lys, NP_001336591.1:p.Glu387Lys, NP_001336581.1:p.Glu558Lys, NP_001336578.1:p.Glu558Lys, NP_001336583.1:p.Glu527Lys, NP_001336582.1:p.Glu558Lys, NP_001336577.1:p.Glu558Lys, NP_001336590.1:p.Glu387Lys, NP_001336598.1:p.Glu274Lys, NP_001336595.1:p.Glu274Lys, NP_001336575.1:p.Glu708Lys, NP_001336597.1:p.Glu274Lys, NP_001336593.1:p.Glu274Lys, NP_001336600.1:p.Glu274Lys, NP_001336587.1:p.Glu442Lys, NP_001336599.1:p.Glu274Lys, NP_001336596.1:p.Glu274Lys, NP_001336576.1:p.Glu618Lys, NP_001336601.1:p.Glu274Lys, NP_001336586.1:p.Glu442Lys, NP_001336594.1:p.Glu274Lys, NP_001336592.1:p.Glu274Lys, XP_047273868.1:p.Glu757Lys, XP_047273875.1:p.Glu726Lys, XP_047273904.1:p.Glu558Lys, XP_047273889.1:p.Glu696Lys, XP_047273895.1:p.Glu606Lys, XP_047273896.1:p.Glu587Lys, XP_047273901.1:p.Glu575Lys, XP_047273892.1:p.Glu708Lys

                              15.

                              rs1479515676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:213272526 (GRCh38)
                                1:213445869 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:213272525:C:T
                                Gene:
                                RPS6KC1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.213272526C>T, NC_000001.10:g.213445869C>T, NM_012424.6:c.3093C>T, NM_012424.5:c.3093C>T, NM_012424.4:c.3093C>T, NM_012424.3:c.3093C>T, NM_001136138.4:c.3057C>T, NM_001136138.3:c.3057C>T, NM_001136138.2:c.3057C>T, NM_001136138.1:c.3057C>T, NM_001287219.3:c.2457C>T, NM_001287219.2:c.2457C>T, NM_001287219.1:c.2457C>T, NM_001287218.3:c.2457C>T, NM_001287218.2:c.2457C>T, NM_001287218.1:c.2457C>T, NM_001287221.3:c.2550C>T, NM_001287221.2:c.2550C>T, NM_001287221.1:c.2550C>T, NM_001287220.3:c.1698C>T, NM_001287220.2:c.1698C>T, NM_001287220.1:c.1698C>T, NR_146210.2:n.3645C>T, NR_146210.1:n.3653C>T, NM_001349660.2:c.2037C>T, NM_001349660.1:c.2037C>T, NM_001349651.2:c.2550C>T, NM_001349651.1:c.2550C>T, NR_146207.2:n.3528C>T, NR_146207.1:n.3536C>T, NM_001349659.2:c.2037C>T, NM_001349659.1:c.2037C>T, NM_001349650.2:c.2550C>T, NM_001349650.1:c.2550C>T, NM_001349662.2:c.2037C>T, NM_001349662.1:c.2037C>T, NM_001349652.2:c.2550C>T, NM_001349652.1:c.2550C>T, NM_001349649.2:c.2550C>T, NM_001349649.1:c.2550C>T, NM_001349654.2:c.2457C>T, NM_001349654.1:c.2457C>T, NR_146209.2:n.3347C>T, NR_146209.1:n.3355C>T, NM_001349653.2:c.2550C>T, NM_001349653.1:c.2550C>T, NM_001349648.2:c.2550C>T, NM_001349648.1:c.2550C>T, NM_001349661.2:c.2037C>T, NM_001349661.1:c.2037C>T, NM_001349669.2:c.1698C>T, NM_001349669.1:c.1698C>T, NM_001349666.2:c.1698C>T, NM_001349666.1:c.1698C>T, NM_001349646.2:c.3000C>T, NM_001349646.1:c.3000C>T, NM_001349668.2:c.1698C>T, NM_001349668.1:c.1698C>T, NM_001349664.2:c.1698C>T, NM_001349664.1:c.1698C>T, NM_001349671.2:c.1698C>T, NM_001349671.1:c.1698C>T, NR_146208.2:n.3035C>T, NR_146208.1:n.3043C>T, NM_001349658.2:c.2202C>T, NM_001349658.1:c.2202C>T, NM_001349670.2:c.1698C>T, NM_001349670.1:c.1698C>T, NM_001349667.2:c.1698C>T, NM_001349667.1:c.1698C>T, NM_001349647.2:c.2730C>T, NM_001349647.1:c.2730C>T, NM_001349672.2:c.1608C>T, NM_001349672.1:c.1608C>T, NM_001349657.2:c.2202C>T, NM_001349657.1:c.2202C>T, NM_001349665.2:c.1698C>T, NM_001349665.1:c.1698C>T, NM_001349663.2:c.1698C>T, NM_001349663.1:c.1698C>T, XM_047417912.1:c.3147C>T, XM_047417919.1:c.3054C>T, XM_047417948.1:c.2550C>T, XM_047417933.1:c.2964C>T, XM_047417939.1:c.2694C>T, XM_047417940.1:c.2637C>T, XM_047417945.1:c.2601C>T, NM_058253.1:c.1302C>T

                                16.

                                rs1478446850 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:213176444 (GRCh38)
                                  1:213349787 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:213176443:C:A
                                  Gene:
                                  RPS6KC1 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.213176444C>A, NC_000001.10:g.213349787C>A, NM_012424.6:c.996C>A, NM_012424.5:c.996C>A, NM_012424.4:c.996C>A, NM_012424.3:c.996C>A, NM_001136138.4:c.960C>A, NM_001136138.3:c.960C>A, NM_001136138.2:c.960C>A, NM_001136138.1:c.960C>A, NM_001287221.3:c.453C>A, NM_001287221.2:c.453C>A, NM_001287221.1:c.453C>A, NM_001287220.3:c.-219C>A, NM_001287220.2:c.-219C>A, NM_001287220.1:c.-219C>A, XM_017001024.2:c.1050C>A, XM_017001024.1:c.453C>A, NR_146210.2:n.1277C>A, NR_146210.1:n.1285C>A, NM_001349660.2:c.-212C>A, NM_001349660.1:c.-212C>A, NM_001349651.2:c.453C>A, NM_001349651.1:c.453C>A, NR_146207.2:n.1160C>A, NR_146207.1:n.1168C>A, NM_001349659.2:c.-292C>A, NM_001349659.1:c.-292C>A, NM_001349650.2:c.453C>A, NM_001349650.1:c.453C>A, NM_001349662.2:c.-212C>A, NM_001349662.1:c.-212C>A, NM_001349652.2:c.453C>A, NM_001349652.1:c.453C>A, NM_001349649.2:c.453C>A, NM_001349649.1:c.453C>A, NR_146209.2:n.1160C>A, NR_146209.1:n.1168C>A, NM_001349653.2:c.453C>A, NM_001349653.1:c.453C>A, NM_001349648.2:c.453C>A, NM_001349648.1:c.453C>A, NM_001349661.2:c.-212C>A, NM_001349661.1:c.-212C>A, NM_001349669.2:c.-219C>A, NM_001349669.1:c.-219C>A, NM_001349666.2:c.-219C>A, NM_001349666.1:c.-219C>A, NM_001349668.2:c.-219C>A, NM_001349668.1:c.-219C>A, NM_001349671.2:c.-219C>A, NM_001349671.1:c.-219C>A, NR_146208.2:n.667C>A, NR_146208.1:n.675C>A, NM_001349658.2:c.105C>A, NM_001349658.1:c.105C>A, NM_001349667.2:c.-219C>A, NM_001349667.1:c.-219C>A, NM_001349647.2:c.633C>A, NM_001349647.1:c.633C>A, NM_001349672.2:c.-219C>A, NM_001349672.1:c.-219C>A, NM_001349657.2:c.105C>A, NM_001349657.1:c.105C>A, NM_001349665.2:c.-219C>A, NM_001349665.1:c.-219C>A, XM_047417912.1:c.1050C>A, XM_047417948.1:c.453C>A, XM_047417939.1:c.597C>A, XR_007058661.1:n.1160C>A, NP_036556.2:p.Ser332Arg, NP_001129610.1:p.Ser320Arg, NP_001274150.1:p.Ser151Arg, XP_016856513.2:p.Ser350Arg, NP_001336580.1:p.Ser151Arg, NP_001336579.1:p.Ser151Arg, NP_001336581.1:p.Ser151Arg, NP_001336578.1:p.Ser151Arg, NP_001336582.1:p.Ser151Arg, NP_001336577.1:p.Ser151Arg, NP_001336587.1:p.Ser35Arg, NP_001336576.1:p.Ser211Arg, NP_001336586.1:p.Ser35Arg, XP_047273868.1:p.Ser350Arg, XP_047273904.1:p.Ser151Arg, XP_047273895.1:p.Ser199Arg

                                  17.

                                  rs1476336131 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    1:213051473 (GRCh38)
                                    1:213224815 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:213051472:C:G,NC_000001.11:213051472:C:T
                                    Gene:
                                    RPS6KC1 (Varview)
                                    Functional Consequence:
                                    missense_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.213051473C>G, NC_000001.11:g.213051473C>T, NC_000001.10:g.213224815C>G, NC_000001.10:g.213224815C>T, NM_012424.6:c.69C>G, NM_012424.6:c.69C>T, NM_012424.5:c.69C>G, NM_012424.5:c.69C>T, NM_012424.4:c.69C>G, NM_012424.4:c.69C>T, NM_012424.3:c.69C>G, NM_012424.3:c.69C>T, NM_001136138.4:c.69C>G, NM_001136138.4:c.69C>T, NM_001136138.3:c.69C>G, NM_001136138.3:c.69C>T, NM_001136138.2:c.69C>G, NM_001136138.2:c.69C>T, NM_001136138.1:c.69C>G, NM_001136138.1:c.69C>T, NM_001287219.3:c.-592C>G, NM_001287219.3:c.-592C>T, NM_001287219.2:c.-592C>G, NM_001287219.2:c.-592C>T, NM_001287219.1:c.-592C>G, NM_001287219.1:c.-592C>T, NM_001287218.3:c.-553C>G, NM_001287218.3:c.-553C>T, NM_001287218.2:c.-553C>G, NM_001287218.2:c.-553C>T, NM_001287218.1:c.-553C>G, NM_001287218.1:c.-553C>T, NM_001287221.3:c.-354C>G, NM_001287221.3:c.-354C>T, NM_001287221.2:c.-354C>G, NM_001287221.2:c.-354C>T, NM_001287221.1:c.-354C>G, NM_001287221.1:c.-354C>T, NM_001287220.3:c.-1146C>G, NM_001287220.3:c.-1146C>T, NM_001287220.2:c.-1146C>G, NM_001287220.2:c.-1146C>T, NM_001287220.1:c.-1146C>G, NM_001287220.1:c.-1146C>T, NR_146210.2:n.233C>G, NR_146210.2:n.233C>T, NR_146210.1:n.241C>G, NR_146210.1:n.241C>T, NM_001349660.2:c.-1334C>G, NM_001349660.2:c.-1334C>T, NM_001349660.1:c.-1334C>G, NM_001349660.1:c.-1334C>T, NM_001349651.2:c.-791C>G, NM_001349651.2:c.-791C>T, NM_001349651.1:c.-791C>G, NM_001349651.1:c.-791C>T, NR_146207.2:n.233C>G, NR_146207.2:n.233C>T, NR_146207.1:n.241C>G, NR_146207.1:n.241C>T, NM_001349659.2:c.-1219C>G, NM_001349659.2:c.-1219C>T, NM_001349659.1:c.-1219C>G, NM_001349659.1:c.-1219C>T, NM_001349650.2:c.-670C>G, NM_001349650.2:c.-670C>T, NM_001349650.1:c.-670C>G, NM_001349650.1:c.-670C>T, NM_001349662.2:c.-1139C>G, NM_001349662.2:c.-1139C>T, NM_001349662.1:c.-1139C>G, NM_001349662.1:c.-1139C>T, NM_001349652.2:c.-624C>G, NM_001349652.2:c.-624C>T, NM_001349652.1:c.-624C>G, NM_001349652.1:c.-624C>T, NM_001349649.2:c.-592C>G, NM_001349649.2:c.-592C>T, NM_001349649.1:c.-592C>G, NM_001349649.1:c.-592C>T, NM_001349654.2:c.-670C>G, NM_001349654.2:c.-670C>T, NM_001349654.1:c.-670C>G, NM_001349654.1:c.-670C>T, NR_146209.2:n.233C>G, NR_146209.2:n.233C>T, NR_146209.1:n.241C>G, NR_146209.1:n.241C>T, NM_001349653.2:c.-553C>G, NM_001349653.2:c.-553C>T, NM_001349653.1:c.-553C>G, NM_001349653.1:c.-553C>T, NM_001349648.2:c.-544C>G, NM_001349648.2:c.-544C>T, NM_001349648.1:c.-544C>G, NM_001349648.1:c.-544C>T, NM_001349661.2:c.-1018C>G, NM_001349661.2:c.-1018C>T, NM_001349661.1:c.-1018C>G, NM_001349661.1:c.-1018C>T, NM_001349669.2:c.-1341C>G, NM_001349669.2:c.-1341C>T, NM_001349669.1:c.-1341C>G, NM_001349669.1:c.-1341C>T, NM_001349666.2:c.-1263C>G, NM_001349666.2:c.-1263C>T, NM_001349666.1:c.-1263C>G, NM_001349666.1:c.-1263C>T, NM_001349646.2:c.69C>G, NM_001349646.2:c.69C>T, NM_001349646.1:c.69C>G, NM_001349646.1:c.69C>T, NM_001349668.2:c.-1224C>G, NM_001349668.2:c.-1224C>T, NM_001349668.1:c.-1224C>G, NM_001349668.1:c.-1224C>T, NM_001349664.2:c.-1170C>G, NM_001349664.2:c.-1170C>T, NM_001349664.1:c.-1170C>G, NM_001349664.1:c.-1170C>T, NM_001349671.2:c.-1121C>G, NM_001349671.2:c.-1121C>T, NM_001349671.1:c.-1121C>G, NM_001349671.1:c.-1121C>T, NR_146208.2:n.233C>G, NR_146208.2:n.233C>T, NR_146208.1:n.241C>G, NR_146208.1:n.241C>T, NM_001349658.2:c.-577C>G, NM_001349658.2:c.-577C>T, NM_001349658.1:c.-577C>G, NM_001349658.1:c.-577C>T, NM_001349670.2:c.-1053C>G, NM_001349670.2:c.-1053C>T, NM_001349670.1:c.-1053C>G, NM_001349670.1:c.-1053C>T, NM_001349667.2:c.-1025C>G, NM_001349667.2:c.-1025C>T, NM_001349667.1:c.-1025C>G, NM_001349667.1:c.-1025C>T, NM_001349647.2:c.69C>G, NM_001349647.2:c.69C>T, NM_001349647.1:c.69C>G, NM_001349647.1:c.69C>T, NM_001349672.2:c.-1025C>G, NM_001349672.2:c.-1025C>T, NM_001349672.1:c.-1025C>G, NM_001349672.1:c.-1025C>T, NM_001349657.2:c.-366C>G, NM_001349657.2:c.-366C>T, NM_001349657.1:c.-366C>G, NM_001349657.1:c.-366C>T, NM_001349665.2:c.-747C>G, NM_001349665.2:c.-747C>T, NM_001349665.1:c.-747C>G, NM_001349665.1:c.-747C>T, NM_001349663.2:c.-596C>G, NM_001349663.2:c.-596C>T, NM_001349663.1:c.-596C>G, NM_001349663.1:c.-596C>T, XM_047417948.1:c.-661C>G, XM_047417948.1:c.-661C>T, XM_047417933.1:c.69C>G, XM_047417933.1:c.69C>T, XM_047417939.1:c.69C>G, XM_047417939.1:c.69C>T, XM_047417940.1:c.69C>G, XM_047417940.1:c.69C>T, XM_047417945.1:c.69C>G, XM_047417945.1:c.69C>T, XM_047417936.1:c.69C>G, XM_047417936.1:c.69C>T, XR_007058661.1:n.233C>G, XR_007058661.1:n.233C>T, XR_007058662.1:n.233C>G, XR_007058662.1:n.233C>T, NP_036556.2:p.His23Gln, NP_001129610.1:p.His23Gln, NP_001336575.1:p.His23Gln, NP_001336576.1:p.His23Gln, XP_047273889.1:p.His23Gln, XP_047273895.1:p.His23Gln, XP_047273896.1:p.His23Gln, XP_047273901.1:p.His23Gln, XP_047273892.1:p.His23Gln

                                    18.

                                    rs1475181574 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      1:213240907 (GRCh38)
                                      1:213414250 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:213240906:T:A
                                      Gene:
                                      RPS6KC1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.213240907T>A, NC_000001.10:g.213414250T>A, NM_012424.6:c.1431T>A, NM_012424.5:c.1431T>A, NM_012424.4:c.1431T>A, NM_012424.3:c.1431T>A, NM_001136138.4:c.1395T>A, NM_001136138.3:c.1395T>A, NM_001136138.2:c.1395T>A, NM_001136138.1:c.1395T>A, NM_001287219.3:c.795T>A, NM_001287219.2:c.795T>A, NM_001287219.1:c.795T>A, NM_001287218.3:c.795T>A, NM_001287218.2:c.795T>A, NM_001287218.1:c.795T>A, NM_001287221.3:c.888T>A, NM_001287221.2:c.888T>A, NM_001287221.1:c.888T>A, NM_001287220.3:c.36T>A, NM_001287220.2:c.36T>A, NM_001287220.1:c.36T>A, XM_017001024.2:c.1485T>A, XM_017001024.1:c.888T>A, NR_146210.2:n.1712T>A, NR_146210.1:n.1720T>A, NM_001349660.2:c.375T>A, NM_001349660.1:c.375T>A, NM_001349651.2:c.888T>A, NM_001349651.1:c.888T>A, NR_146207.2:n.1595T>A, NR_146207.1:n.1603T>A, NM_001349659.2:c.375T>A, NM_001349659.1:c.375T>A, NM_001349650.2:c.888T>A, NM_001349650.1:c.888T>A, NM_001349662.2:c.375T>A, NM_001349662.1:c.375T>A, NM_001349652.2:c.888T>A, NM_001349652.1:c.888T>A, NM_001349649.2:c.888T>A, NM_001349649.1:c.888T>A, NM_001349654.2:c.795T>A, NM_001349654.1:c.795T>A, NR_146209.2:n.1414T>A, NR_146209.1:n.1422T>A, NM_001349653.2:c.888T>A, NM_001349653.1:c.888T>A, NM_001349648.2:c.888T>A, NM_001349648.1:c.888T>A, NM_001349661.2:c.375T>A, NM_001349661.1:c.375T>A, NM_001349669.2:c.36T>A, NM_001349669.1:c.36T>A, NM_001349666.2:c.36T>A, NM_001349666.1:c.36T>A, NM_001349646.2:c.1338T>A, NM_001349646.1:c.1338T>A, NM_001349668.2:c.36T>A, NM_001349668.1:c.36T>A, NM_001349664.2:c.36T>A, NM_001349664.1:c.36T>A, NM_001349671.2:c.36T>A, NM_001349671.1:c.36T>A, NR_146208.2:n.1102T>A, NR_146208.1:n.1110T>A, NM_001349658.2:c.540T>A, NM_001349658.1:c.540T>A, NM_001349670.2:c.36T>A, NM_001349670.1:c.36T>A, NM_001349667.2:c.36T>A, NM_001349667.1:c.36T>A, NM_001349647.2:c.1068T>A, NM_001349647.1:c.1068T>A, NM_001349672.2:c.36T>A, NM_001349672.1:c.36T>A, NM_001349657.2:c.540T>A, NM_001349657.1:c.540T>A, NM_001349665.2:c.36T>A, NM_001349665.1:c.36T>A, NM_001349663.2:c.36T>A, NM_001349663.1:c.36T>A, XM_047417912.1:c.1485T>A, XM_047417919.1:c.1392T>A, XM_047417948.1:c.888T>A, XM_047417933.1:c.1302T>A, XM_047417939.1:c.1032T>A, XM_047417940.1:c.975T>A, XM_047417945.1:c.939T>A, XM_047417936.1:c.1338T>A, XR_007058661.1:n.1595T>A, XR_007058662.1:n.1466T>A

                                      19.

                                      rs1472379042 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:213232152 (GRCh38)
                                        1:213405495 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:213232151:G:A
                                        Gene:
                                        RPS6KC1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.213232152G>A, NC_000001.10:g.213405495G>A, NM_012424.6:c.1122G>A, NM_012424.5:c.1122G>A, NM_012424.4:c.1122G>A, NM_012424.3:c.1122G>A, NM_001136138.4:c.1086G>A, NM_001136138.3:c.1086G>A, NM_001136138.2:c.1086G>A, NM_001136138.1:c.1086G>A, NM_001287219.3:c.486G>A, NM_001287219.2:c.486G>A, NM_001287219.1:c.486G>A, NM_001287218.3:c.486G>A, NM_001287218.2:c.486G>A, NM_001287218.1:c.486G>A, NM_001287221.3:c.579G>A, NM_001287221.2:c.579G>A, NM_001287221.1:c.579G>A, XM_017001024.2:c.1176G>A, XM_017001024.1:c.579G>A, NR_146210.2:n.1403G>A, NR_146210.1:n.1411G>A, NM_001349660.2:c.66G>A, NM_001349660.1:c.66G>A, NM_001349651.2:c.579G>A, NM_001349651.1:c.579G>A, NR_146207.2:n.1286G>A, NR_146207.1:n.1294G>A, NM_001349659.2:c.66G>A, NM_001349659.1:c.66G>A, NM_001349650.2:c.579G>A, NM_001349650.1:c.579G>A, NM_001349662.2:c.66G>A, NM_001349662.1:c.66G>A, NM_001349652.2:c.579G>A, NM_001349652.1:c.579G>A, NM_001349649.2:c.579G>A, NM_001349649.1:c.579G>A, NM_001349654.2:c.486G>A, NM_001349654.1:c.486G>A, NM_001349653.2:c.579G>A, NM_001349653.1:c.579G>A, NM_001349648.2:c.579G>A, NM_001349648.1:c.579G>A, NM_001349661.2:c.66G>A, NM_001349661.1:c.66G>A, NM_001349646.2:c.1029G>A, NM_001349646.1:c.1029G>A, NR_146208.2:n.793G>A, NR_146208.1:n.801G>A, NM_001349658.2:c.231G>A, NM_001349658.1:c.231G>A, NM_001349647.2:c.759G>A, NM_001349647.1:c.759G>A, NM_001349657.2:c.231G>A, NM_001349657.1:c.231G>A, XM_047417912.1:c.1176G>A, XM_047417919.1:c.1083G>A, XM_047417948.1:c.579G>A, XM_047417933.1:c.993G>A, XM_047417939.1:c.723G>A, XM_047417940.1:c.666G>A, XM_047417945.1:c.630G>A, XM_047417936.1:c.1029G>A, XR_007058661.1:n.1286G>A, XR_007058662.1:n.1157G>A

                                        20.

                                        rs1471788928 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->TG [Show Flanks]
                                          Chromosome:
                                          1:213241500 (GRCh38)
                                          1:213414844 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:213241500:TG:TGTG
                                          Gene:
                                          RPS6KC1 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TGTG=0./0 (ALFA)
                                          TG=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.213241501_213241502dup, NC_000001.10:g.213414844_213414845dup, NM_012424.6:c.2025_2026dup, NM_012424.5:c.2025_2026dup, NM_012424.4:c.2025_2026dup, NM_012424.3:c.2025_2026dup, NM_001136138.4:c.1989_1990dup, NM_001136138.3:c.1989_1990dup, NM_001136138.2:c.1989_1990dup, NM_001136138.1:c.1989_1990dup, NM_001287219.3:c.1389_1390dup, NM_001287219.2:c.1389_1390dup, NM_001287219.1:c.1389_1390dup, NM_001287218.3:c.1389_1390dup, NM_001287218.2:c.1389_1390dup, NM_001287218.1:c.1389_1390dup, NM_001287221.3:c.1482_1483dup, NM_001287221.2:c.1482_1483dup, NM_001287221.1:c.1482_1483dup, NM_001287220.3:c.630_631dup, NM_001287220.2:c.630_631dup, NM_001287220.1:c.630_631dup, XM_017001024.2:c.2079_2080dup, XM_017001024.1:c.1482_1483dup, NR_146210.2:n.2306_2307dup, NR_146210.1:n.2314_2315dup, NM_001349660.2:c.969_970dup, NM_001349660.1:c.969_970dup, NM_001349651.2:c.1482_1483dup, NM_001349651.1:c.1482_1483dup, NR_146207.2:n.2189_2190dup, NR_146207.1:n.2197_2198dup, NM_001349659.2:c.969_970dup, NM_001349659.1:c.969_970dup, NM_001349650.2:c.1482_1483dup, NM_001349650.1:c.1482_1483dup, NM_001349662.2:c.969_970dup, NM_001349662.1:c.969_970dup, NM_001349652.2:c.1482_1483dup, NM_001349652.1:c.1482_1483dup, NM_001349649.2:c.1482_1483dup, NM_001349649.1:c.1482_1483dup, NM_001349654.2:c.1389_1390dup, NM_001349654.1:c.1389_1390dup, NR_146209.2:n.2008_2009dup, NR_146209.1:n.2016_2017dup, NM_001349653.2:c.1482_1483dup, NM_001349653.1:c.1482_1483dup, NM_001349648.2:c.1482_1483dup, NM_001349648.1:c.1482_1483dup, NM_001349661.2:c.969_970dup, NM_001349661.1:c.969_970dup, NM_001349669.2:c.630_631dup, NM_001349669.1:c.630_631dup, NM_001349666.2:c.630_631dup, NM_001349666.1:c.630_631dup, NM_001349646.2:c.1932_1933dup, NM_001349646.1:c.1932_1933dup, NM_001349668.2:c.630_631dup, NM_001349668.1:c.630_631dup, NM_001349664.2:c.630_631dup, NM_001349664.1:c.630_631dup, NM_001349671.2:c.630_631dup, NM_001349671.1:c.630_631dup, NR_146208.2:n.1696_1697dup, NR_146208.1:n.1704_1705dup, NM_001349658.2:c.1134_1135dup, NM_001349658.1:c.1134_1135dup, NM_001349670.2:c.630_631dup, NM_001349670.1:c.630_631dup, NM_001349667.2:c.630_631dup, NM_001349667.1:c.630_631dup, NM_001349647.2:c.1662_1663dup, NM_001349647.1:c.1662_1663dup, NM_001349672.2:c.630_631dup, NM_001349672.1:c.630_631dup, NM_001349657.2:c.1134_1135dup, NM_001349657.1:c.1134_1135dup, NM_001349665.2:c.630_631dup, NM_001349665.1:c.630_631dup, NM_001349663.2:c.630_631dup, NM_001349663.1:c.630_631dup, XM_047417912.1:c.2079_2080dup, XM_047417919.1:c.1986_1987dup, XM_047417948.1:c.1482_1483dup, XM_047417933.1:c.1896_1897dup, XM_047417939.1:c.1626_1627dup, XM_047417940.1:c.1569_1570dup, XM_047417945.1:c.1533_1534dup, XM_047417936.1:c.1932_1933dup, XR_007058661.1:n.2189_2190dup, XR_007058662.1:n.2060_2061dup, NM_058253.1:c.234_235dup, NP_036556.2:p.Ala676fs, NP_001129610.1:p.Ala664fs, NP_001274148.1:p.Ala464fs, NP_001274147.1:p.Ala464fs, NP_001274150.1:p.Ala495fs, NP_001274149.1:p.Ala211fs, XP_016856513.2:p.Ala694fs, NP_001336589.1:p.Ala324fs, NP_001336580.1:p.Ala495fs, NP_001336588.1:p.Ala324fs, NP_001336579.1:p.Ala495fs, NP_001336591.1:p.Ala324fs, NP_001336581.1:p.Ala495fs, NP_001336578.1:p.Ala495fs, NP_001336583.1:p.Ala464fs, NP_001336582.1:p.Ala495fs, NP_001336577.1:p.Ala495fs, NP_001336590.1:p.Ala324fs, NP_001336598.1:p.Ala211fs, NP_001336595.1:p.Ala211fs, NP_001336575.1:p.Ala645fs, NP_001336597.1:p.Ala211fs, NP_001336593.1:p.Ala211fs, NP_001336600.1:p.Ala211fs, NP_001336587.1:p.Ala379fs, NP_001336599.1:p.Ala211fs, NP_001336596.1:p.Ala211fs, NP_001336576.1:p.Ala555fs, NP_001336601.1:p.Ala211fs, NP_001336586.1:p.Ala379fs, NP_001336594.1:p.Ala211fs, NP_001336592.1:p.Ala211fs, XP_047273868.1:p.Ala694fs, XP_047273875.1:p.Ala663fs, XP_047273904.1:p.Ala495fs, XP_047273889.1:p.Ala633fs, XP_047273895.1:p.Ala543fs, XP_047273896.1:p.Ala524fs, XP_047273901.1:p.Ala512fs, XP_047273892.1:p.Ala645fs

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