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Items: 1 to 20 of 629

1.

rs1490036379 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    22:29806282 (GRCh38)
    22:30202271 (GRCh37)
    Canonical SPDI:
    NC_000022.11:29806281:C:G,NC_000022.11:29806281:C:T
    Gene:
    ASCC2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    G=0.000035/1 (TOMMO)
    HGVS:
    NC_000022.11:g.29806282C>G, NC_000022.11:g.29806282C>T, NC_000022.10:g.30202271C>G, NC_000022.10:g.30202271C>T, NM_032204.5:c.1094G>C, NM_032204.5:c.1094G>A, NM_032204.4:c.1094G>C, NM_032204.4:c.1094G>A, XM_011530442.4:c.1094G>C, XM_011530442.4:c.1094G>A, XM_011530442.3:c.1094G>C, XM_011530442.3:c.1094G>A, XM_011530442.2:c.1094G>C, XM_011530442.2:c.1094G>A, XM_011530442.1:c.1094G>C, XM_011530442.1:c.1094G>A, XM_011530444.3:c.1094G>C, XM_011530444.3:c.1094G>A, XM_011530444.2:c.1094G>C, XM_011530444.2:c.1094G>A, XM_011530444.1:c.1094G>C, XM_011530444.1:c.1094G>A, XM_011530443.3:c.1094G>C, XM_011530443.3:c.1094G>A, XM_011530443.2:c.1094G>C, XM_011530443.2:c.1094G>A, XM_011530443.1:c.1094G>C, XM_011530443.1:c.1094G>A, XM_011530445.3:c.1094G>C, XM_011530445.3:c.1094G>A, XM_011530445.2:c.1094G>C, XM_011530445.2:c.1094G>A, XM_011530445.1:c.1094G>C, XM_011530445.1:c.1094G>A, XM_011530453.3:c.752G>C, XM_011530453.3:c.752G>A, XM_011530453.2:c.752G>C, XM_011530453.2:c.752G>A, XM_011530453.1:c.752G>C, XM_011530453.1:c.752G>A, XM_011530454.3:c.752G>C, XM_011530454.3:c.752G>A, XM_011530454.2:c.752G>C, XM_011530454.2:c.752G>A, XM_011530454.1:c.752G>C, XM_011530454.1:c.752G>A, XM_011530448.3:c.935G>C, XM_011530448.3:c.935G>A, XM_011530448.2:c.935G>C, XM_011530448.2:c.935G>A, XM_011530448.1:c.935G>C, XM_011530448.1:c.935G>A, XM_011530455.3:c.752G>C, XM_011530455.3:c.752G>A, XM_011530455.2:c.752G>C, XM_011530455.2:c.752G>A, XM_011530455.1:c.752G>C, XM_011530455.1:c.752G>A, XM_024452287.2:c.1256G>C, XM_024452287.2:c.1256G>A, XM_024452287.1:c.1256G>C, XM_024452287.1:c.1256G>A, XM_024452288.2:c.1181G>C, XM_024452288.2:c.1181G>A, XM_024452288.1:c.1181G>C, XM_024452288.1:c.1181G>A, XM_024452289.2:c.1181G>C, XM_024452289.2:c.1181G>A, XM_024452289.1:c.1181G>C, XM_024452289.1:c.1181G>A, XM_024452290.2:c.1097G>C, XM_024452290.2:c.1097G>A, XM_024452290.1:c.1097G>C, XM_024452290.1:c.1097G>A, XM_024452291.2:c.1097G>C, XM_024452291.2:c.1097G>A, XM_024452291.1:c.1097G>C, XM_024452291.1:c.1097G>A, NM_001242906.2:c.866G>C, NM_001242906.2:c.866G>A, NM_001242906.1:c.866G>C, NM_001242906.1:c.866G>A, XM_047441538.1:c.1256G>C, XM_047441538.1:c.1256G>A, XM_047441542.1:c.1022G>C, XM_047441542.1:c.1022G>A, XM_047441539.1:c.1094G>C, XM_047441539.1:c.1094G>A, NM_001369931.1:c.752G>C, NM_001369931.1:c.752G>A, XM_047441540.1:c.1094G>C, XM_047441540.1:c.1094G>A, NM_001369921.1:c.1094G>C, NM_001369921.1:c.1094G>A, NM_001369935.1:c.752G>C, NM_001369935.1:c.752G>A, NM_001369948.1:c.386G>C, NM_001369948.1:c.386G>A, NM_001369922.1:c.1094G>C, NM_001369922.1:c.1094G>A, NM_001369932.1:c.752G>C, NM_001369932.1:c.752G>A, NM_001369923.1:c.1094G>C, NM_001369923.1:c.1094G>A, XM_047441544.1:c.1019G>C, XM_047441544.1:c.1019G>A, NM_001369946.1:c.386G>C, NM_001369946.1:c.386G>A, XM_047441546.1:c.1019G>C, XM_047441546.1:c.1019G>A, NM_001369940.1:c.752G>C, NM_001369940.1:c.752G>A, NM_001369945.1:c.386G>C, NM_001369945.1:c.386G>A, NM_001369920.1:c.1094G>C, NM_001369920.1:c.1094G>A, NM_001369938.1:c.752G>C, NM_001369938.1:c.752G>A, NM_001369924.1:c.1094G>C, NM_001369924.1:c.1094G>A, XM_047441543.1:c.1019G>C, XM_047441543.1:c.1019G>A, NM_001369928.1:c.935G>C, NM_001369928.1:c.935G>A, NM_001369933.1:c.752G>C, NM_001369933.1:c.752G>A, XM_047441547.1:c.935G>C, XM_047441547.1:c.935G>A, XM_047441541.1:c.1019G>C, XM_047441541.1:c.1019G>A, XM_047441545.1:c.1019G>C, XM_047441545.1:c.1019G>A, NM_001369926.1:c.935G>C, NM_001369926.1:c.935G>A, NM_001369934.1:c.752G>C, NM_001369934.1:c.752G>A, NM_001369941.1:c.752G>C, NM_001369941.1:c.752G>A, NM_001369949.1:c.386G>C, NM_001369949.1:c.386G>A, NM_001369925.1:c.935G>C, NM_001369925.1:c.935G>A, NM_001369927.1:c.935G>C, NM_001369927.1:c.935G>A, NM_001369939.1:c.752G>C, NM_001369939.1:c.752G>A, NM_001369929.1:c.935G>C, NM_001369929.1:c.935G>A, XM_047441548.1:c.677G>C, XM_047441548.1:c.677G>A, NM_001369937.1:c.752G>C, NM_001369937.1:c.752G>A, NM_001369943.1:c.386G>C, NM_001369943.1:c.386G>A, NM_001369930.1:c.860G>C, NM_001369930.1:c.860G>A, NM_001369936.1:c.752G>C, NM_001369936.1:c.752G>A, NM_001369950.1:c.386G>C, NM_001369950.1:c.386G>A, NM_001369947.1:c.386G>C, NM_001369947.1:c.386G>A, NM_001369942.1:c.560G>C, NM_001369942.1:c.560G>A, NM_001369944.1:c.386G>C, NM_001369944.1:c.386G>A, NP_115580.2:p.Arg365Pro, NP_115580.2:p.Arg365Gln, XP_011528744.1:p.Arg365Pro, XP_011528744.1:p.Arg365Gln, XP_011528746.1:p.Arg365Pro, XP_011528746.1:p.Arg365Gln, XP_011528745.1:p.Arg365Pro, XP_011528745.1:p.Arg365Gln, XP_011528747.1:p.Arg365Pro, XP_011528747.1:p.Arg365Gln, XP_011528755.1:p.Arg251Pro, XP_011528755.1:p.Arg251Gln, XP_011528756.1:p.Arg251Pro, XP_011528756.1:p.Arg251Gln, XP_011528750.1:p.Arg312Pro, XP_011528750.1:p.Arg312Gln, XP_011528757.1:p.Arg251Pro, XP_011528757.1:p.Arg251Gln, XP_024308055.1:p.Arg419Pro, XP_024308055.1:p.Arg419Gln, XP_024308056.1:p.Arg394Pro, XP_024308056.1:p.Arg394Gln, XP_024308057.1:p.Arg394Pro, XP_024308057.1:p.Arg394Gln, XP_024308058.1:p.Arg366Pro, XP_024308058.1:p.Arg366Gln, XP_024308059.1:p.Arg366Pro, XP_024308059.1:p.Arg366Gln, NP_001229835.1:p.Arg289Pro, NP_001229835.1:p.Arg289Gln, XP_047297494.1:p.Arg419Pro, XP_047297494.1:p.Arg419Gln, XP_047297498.1:p.Arg341Pro, XP_047297498.1:p.Arg341Gln, XP_047297495.1:p.Arg365Pro, XP_047297495.1:p.Arg365Gln, NP_001356860.1:p.Arg251Pro, NP_001356860.1:p.Arg251Gln, XP_047297496.1:p.Arg365Pro, XP_047297496.1:p.Arg365Gln, NP_001356850.1:p.Arg365Pro, NP_001356850.1:p.Arg365Gln, NP_001356864.1:p.Arg251Pro, NP_001356864.1:p.Arg251Gln, NP_001356877.1:p.Arg129Pro, NP_001356877.1:p.Arg129Gln, NP_001356851.1:p.Arg365Pro, NP_001356851.1:p.Arg365Gln, NP_001356861.1:p.Arg251Pro, NP_001356861.1:p.Arg251Gln, NP_001356852.1:p.Arg365Pro, NP_001356852.1:p.Arg365Gln, XP_047297500.1:p.Arg340Pro, XP_047297500.1:p.Arg340Gln, NP_001356875.1:p.Arg129Pro, NP_001356875.1:p.Arg129Gln, XP_047297502.1:p.Arg340Pro, XP_047297502.1:p.Arg340Gln, NP_001356869.1:p.Arg251Pro, NP_001356869.1:p.Arg251Gln, NP_001356874.1:p.Arg129Pro, NP_001356874.1:p.Arg129Gln, NP_001356849.1:p.Arg365Pro, NP_001356849.1:p.Arg365Gln, NP_001356867.1:p.Arg251Pro, NP_001356867.1:p.Arg251Gln, NP_001356853.1:p.Arg365Pro, NP_001356853.1:p.Arg365Gln, XP_047297499.1:p.Arg340Pro, XP_047297499.1:p.Arg340Gln, NP_001356857.1:p.Arg312Pro, NP_001356857.1:p.Arg312Gln, NP_001356862.1:p.Arg251Pro, NP_001356862.1:p.Arg251Gln, XP_047297503.1:p.Arg312Pro, XP_047297503.1:p.Arg312Gln, XP_047297497.1:p.Arg340Pro, XP_047297497.1:p.Arg340Gln, XP_047297501.1:p.Arg340Pro, XP_047297501.1:p.Arg340Gln, NP_001356855.1:p.Arg312Pro, NP_001356855.1:p.Arg312Gln, NP_001356863.1:p.Arg251Pro, NP_001356863.1:p.Arg251Gln, NP_001356870.1:p.Arg251Pro, NP_001356870.1:p.Arg251Gln, NP_001356878.1:p.Arg129Pro, NP_001356878.1:p.Arg129Gln, NP_001356854.1:p.Arg312Pro, NP_001356854.1:p.Arg312Gln, NP_001356856.1:p.Arg312Pro, NP_001356856.1:p.Arg312Gln, NP_001356868.1:p.Arg251Pro, NP_001356868.1:p.Arg251Gln, NP_001356858.1:p.Arg312Pro, NP_001356858.1:p.Arg312Gln, XP_047297504.1:p.Arg226Pro, XP_047297504.1:p.Arg226Gln, NP_001356866.1:p.Arg251Pro, NP_001356866.1:p.Arg251Gln, NP_001356872.1:p.Arg129Pro, NP_001356872.1:p.Arg129Gln, NP_001356859.1:p.Arg287Pro, NP_001356859.1:p.Arg287Gln, NP_001356865.1:p.Arg251Pro, NP_001356865.1:p.Arg251Gln, NP_001356879.1:p.Arg129Pro, NP_001356879.1:p.Arg129Gln, NP_001356876.1:p.Arg129Pro, NP_001356876.1:p.Arg129Gln, NP_001356871.1:p.Arg187Pro, NP_001356871.1:p.Arg187Gln, NP_001356873.1:p.Arg129Pro, NP_001356873.1:p.Arg129Gln

    2.

    rs1488209719 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:29793404 (GRCh38)
      22:30189393 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29793403:C:T
      Gene:
      ASCC2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      HGVS:
      NC_000022.11:g.29793404C>T, NC_000022.10:g.30189393C>T, NM_032204.5:c.1875G>A, NM_032204.4:c.1875G>A, XM_011530442.4:c.1875G>A, XM_011530442.3:c.1875G>A, XM_011530442.2:c.1875G>A, XM_011530442.1:c.1875G>A, XM_011530444.3:c.1875G>A, XM_011530444.2:c.1875G>A, XM_011530444.1:c.1875G>A, XM_011530443.3:c.1875G>A, XM_011530443.2:c.1875G>A, XM_011530443.1:c.1875G>A, XM_011530445.3:c.1875G>A, XM_011530445.2:c.1875G>A, XM_011530445.1:c.1875G>A, XM_011530453.3:c.1533G>A, XM_011530453.2:c.1533G>A, XM_011530453.1:c.1533G>A, XM_011530454.3:c.1533G>A, XM_011530454.2:c.1533G>A, XM_011530454.1:c.1533G>A, XM_011530448.3:c.1716G>A, XM_011530448.2:c.1716G>A, XM_011530448.1:c.1716G>A, XM_011530455.3:c.1533G>A, XM_011530455.2:c.1533G>A, XM_011530455.1:c.1533G>A, XM_024452287.2:c.2037G>A, XM_024452287.1:c.2037G>A, XM_024452288.2:c.1962G>A, XM_024452288.1:c.1962G>A, XM_024452289.2:c.1962G>A, XM_024452289.1:c.1962G>A, XM_024452290.2:c.1878G>A, XM_024452290.1:c.1878G>A, XM_024452291.2:c.1878G>A, XM_024452291.1:c.1878G>A, NM_001242906.2:c.1647G>A, NM_001242906.1:c.1647G>A, XM_047441538.1:c.2037G>A, XM_047441542.1:c.1803G>A, XM_047441539.1:c.1875G>A, NM_001369931.1:c.1533G>A, XM_047441540.1:c.1875G>A, NM_001369921.1:c.1875G>A, NM_001369935.1:c.1533G>A, NM_001369948.1:c.1167G>A, NM_001369922.1:c.1875G>A, NM_001369932.1:c.1533G>A, NM_001369923.1:c.1875G>A, XM_047441544.1:c.1800G>A, NM_001369946.1:c.1167G>A, XM_047441546.1:c.1800G>A, NM_001369940.1:c.1533G>A, NM_001369945.1:c.1167G>A, NM_001369920.1:c.1875G>A, NM_001369938.1:c.1533G>A, NM_001369924.1:c.1863G>A, XM_047441543.1:c.1800G>A, NM_001369928.1:c.1716G>A, NM_001369933.1:c.1533G>A, XM_047441547.1:c.1716G>A, XM_047441541.1:c.1800G>A, XM_047441545.1:c.1800G>A, NM_001369926.1:c.1716G>A, NM_001369934.1:c.1533G>A, NM_001369941.1:c.1521G>A, NM_001369949.1:c.1167G>A, NM_001369925.1:c.1716G>A, NM_001369927.1:c.1716G>A, NM_001369939.1:c.1533G>A, NM_001369929.1:c.1704G>A, XM_047441548.1:c.1458G>A, NM_001369937.1:c.1533G>A, NM_001369943.1:c.1167G>A, NM_001369930.1:c.1641G>A, NM_001369936.1:c.1533G>A, NM_001369950.1:c.1161G>A, NM_001369947.1:c.1167G>A, NM_001369942.1:c.1341G>A, NM_001369944.1:c.1167G>A

      3.

      rs1486738919 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        22:29790548 (GRCh38)
        22:30186537 (GRCh37)
        Canonical SPDI:
        NC_000022.11:29790547:G:C
        Gene:
        ASCC2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000111/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.29790548G>C, NC_000022.10:g.30186537G>C, NM_032204.5:c.2023C>G, NM_032204.4:c.2023C>G, XM_011530442.4:c.2038C>G, XM_011530442.3:c.2038C>G, XM_011530442.2:c.2038C>G, XM_011530442.1:c.2038C>G, XM_011530444.3:c.2038C>G, XM_011530444.2:c.2038C>G, XM_011530444.1:c.2038C>G, XM_011530443.3:c.2038C>G, XM_011530443.2:c.2038C>G, XM_011530443.1:c.2038C>G, XM_011530445.3:c.2038C>G, XM_011530445.2:c.2038C>G, XM_011530445.1:c.2038C>G, XM_011530453.3:c.1696C>G, XM_011530453.2:c.1696C>G, XM_011530453.1:c.1696C>G, XM_011530454.3:c.1696C>G, XM_011530454.2:c.1696C>G, XM_011530454.1:c.1696C>G, XM_011530448.3:c.1879C>G, XM_011530448.2:c.1879C>G, XM_011530448.1:c.1879C>G, XM_011530455.3:c.1696C>G, XM_011530455.2:c.1696C>G, XM_011530455.1:c.1696C>G, XM_024452287.2:c.2200C>G, XM_024452287.1:c.2200C>G, XM_024452288.2:c.2125C>G, XM_024452288.1:c.2125C>G, XM_024452289.2:c.2110C>G, XM_024452289.1:c.2110C>G, XM_024452290.2:c.2041C>G, XM_024452290.1:c.2041C>G, XM_024452291.2:c.2026C>G, XM_024452291.1:c.2026C>G, NM_001242906.2:c.1795C>G, NM_001242906.1:c.1795C>G, XM_047441538.1:c.2185C>G, XM_047441542.1:c.1951C>G, XM_047441539.1:c.2038C>G, NM_001369931.1:c.1681C>G, XM_047441540.1:c.2023C>G, NM_001369921.1:c.2023C>G, NM_001369935.1:c.1681C>G, NM_001369948.1:c.1315C>G, NM_001369922.1:c.2023C>G, NM_001369932.1:c.1681C>G, NM_001369923.1:c.2023C>G, XM_047441544.1:c.1948C>G, NM_001369946.1:c.1315C>G, XM_047441546.1:c.1948C>G, NM_001369940.1:c.1681C>G, NM_001369945.1:c.1315C>G, NM_001369920.1:c.2038C>G, NM_001369938.1:c.1681C>G, NM_001369924.1:c.2011C>G, XM_047441543.1:c.1948C>G, NM_001369928.1:c.1864C>G, NM_001369933.1:c.1681C>G, XM_047441547.1:c.1864C>G, XM_047441541.1:c.1963C>G, XM_047441545.1:c.1948C>G, NM_001369926.1:c.1864C>G, NM_001369934.1:c.1681C>G, NM_001369941.1:c.1669C>G, NM_001369949.1:c.1315C>G, NM_001369925.1:c.1879C>G, NM_001369927.1:c.1864C>G, NM_001369939.1:c.1681C>G, NM_001369929.1:c.1852C>G, XM_047441548.1:c.1606C>G, NM_001369937.1:c.1681C>G, NM_001369943.1:c.1315C>G, NM_001369930.1:c.1789C>G, NM_001369936.1:c.1681C>G, NM_001369950.1:c.1309C>G, NM_001369947.1:c.1315C>G, NM_001369942.1:c.1489C>G, NM_001369944.1:c.1315C>G, NP_115580.2:p.Pro675Ala, XP_011528744.1:p.Pro680Ala, XP_011528746.1:p.Pro680Ala, XP_011528745.1:p.Pro680Ala, XP_011528747.1:p.Pro680Ala, XP_011528755.1:p.Pro566Ala, XP_011528756.1:p.Pro566Ala, XP_011528750.1:p.Pro627Ala, XP_011528757.1:p.Pro566Ala, XP_024308055.1:p.Pro734Ala, XP_024308056.1:p.Pro709Ala, XP_024308057.1:p.Pro704Ala, XP_024308058.1:p.Pro681Ala, XP_024308059.1:p.Pro676Ala, NP_001229835.1:p.Pro599Ala, XP_047297494.1:p.Pro729Ala, XP_047297498.1:p.Pro651Ala, XP_047297495.1:p.Pro680Ala, NP_001356860.1:p.Pro561Ala, XP_047297496.1:p.Pro675Ala, NP_001356850.1:p.Pro675Ala, NP_001356864.1:p.Pro561Ala, NP_001356877.1:p.Pro439Ala, NP_001356851.1:p.Pro675Ala, NP_001356861.1:p.Pro561Ala, NP_001356852.1:p.Pro675Ala, XP_047297500.1:p.Pro650Ala, NP_001356875.1:p.Pro439Ala, XP_047297502.1:p.Pro650Ala, NP_001356869.1:p.Pro561Ala, NP_001356874.1:p.Pro439Ala, NP_001356849.1:p.Pro680Ala, NP_001356867.1:p.Pro561Ala, NP_001356853.1:p.Pro671Ala, XP_047297499.1:p.Pro650Ala, NP_001356857.1:p.Pro622Ala, NP_001356862.1:p.Pro561Ala, XP_047297503.1:p.Pro622Ala, XP_047297497.1:p.Pro655Ala, XP_047297501.1:p.Pro650Ala, NP_001356855.1:p.Pro622Ala, NP_001356863.1:p.Pro561Ala, NP_001356870.1:p.Pro557Ala, NP_001356878.1:p.Pro439Ala, NP_001356854.1:p.Pro627Ala, NP_001356856.1:p.Pro622Ala, NP_001356868.1:p.Pro561Ala, NP_001356858.1:p.Pro618Ala, XP_047297504.1:p.Pro536Ala, NP_001356866.1:p.Pro561Ala, NP_001356872.1:p.Pro439Ala, NP_001356859.1:p.Pro597Ala, NP_001356865.1:p.Pro561Ala, NP_001356879.1:p.Pro437Ala, NP_001356876.1:p.Pro439Ala, NP_001356871.1:p.Pro497Ala, NP_001356873.1:p.Pro439Ala

        4.

        rs1484973518 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:29789108 (GRCh38)
          22:30185097 (GRCh37)
          Canonical SPDI:
          NC_000022.11:29789107:G:A
          Gene:
          ASCC2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.29789108G>A, NC_000022.10:g.30185097G>A, NM_032204.5:c.2179C>T, NM_032204.4:c.2179C>T, XM_011530442.4:c.2194C>T, XM_011530442.3:c.2194C>T, XM_011530442.2:c.2194C>T, XM_011530442.1:c.2194C>T, XM_011530444.3:c.2194C>T, XM_011530444.2:c.2194C>T, XM_011530444.1:c.2194C>T, XM_011530443.3:c.2194C>T, XM_011530443.2:c.2194C>T, XM_011530443.1:c.2194C>T, XM_011530445.3:c.2194C>T, XM_011530445.2:c.2194C>T, XM_011530445.1:c.2194C>T, XM_011530453.3:c.1852C>T, XM_011530453.2:c.1852C>T, XM_011530453.1:c.1852C>T, XM_011530454.3:c.1852C>T, XM_011530454.2:c.1852C>T, XM_011530454.1:c.1852C>T, XM_011530448.3:c.2035C>T, XM_011530448.2:c.2035C>T, XM_011530448.1:c.2035C>T, XM_011530455.3:c.1852C>T, XM_011530455.2:c.1852C>T, XM_011530455.1:c.1852C>T, XM_024452287.2:c.2356C>T, XM_024452287.1:c.2356C>T, XM_024452288.2:c.2281C>T, XM_024452288.1:c.2281C>T, XM_024452289.2:c.2266C>T, XM_024452289.1:c.2266C>T, XM_024452290.2:c.2197C>T, XM_024452290.1:c.2197C>T, XM_024452291.2:c.2182C>T, XM_024452291.1:c.2182C>T, NM_001242906.2:c.1951C>T, NM_001242906.1:c.1951C>T, XM_047441538.1:c.2341C>T, XM_047441542.1:c.2107C>T, XM_047441539.1:c.2194C>T, NM_001369931.1:c.1837C>T, XM_047441540.1:c.2179C>T, NM_001369921.1:c.2179C>T, NM_001369935.1:c.1837C>T, NM_001369948.1:c.1471C>T, NM_001369922.1:c.2179C>T, NM_001369932.1:c.1837C>T, NM_001369923.1:c.2179C>T, XM_047441544.1:c.2104C>T, NM_001369946.1:c.1471C>T, XM_047441546.1:c.2104C>T, NM_001369940.1:c.1837C>T, NM_001369945.1:c.1471C>T, NM_001369920.1:c.2194C>T, NM_001369938.1:c.1837C>T, NM_001369924.1:c.2167C>T, XM_047441543.1:c.2104C>T, NM_001369928.1:c.2020C>T, NM_001369933.1:c.1837C>T, XM_047441547.1:c.2020C>T, XM_047441541.1:c.2119C>T, XM_047441545.1:c.2104C>T, NM_001369926.1:c.2020C>T, NM_001369934.1:c.1837C>T, NM_001369941.1:c.1825C>T, NM_001369949.1:c.1471C>T, NM_001369925.1:c.2035C>T, NM_001369927.1:c.2020C>T, NM_001369939.1:c.1837C>T, NM_001369929.1:c.2008C>T, XM_047441548.1:c.1762C>T, NM_001369937.1:c.1837C>T, NM_001369943.1:c.1471C>T, NM_001369930.1:c.1945C>T, NM_001369936.1:c.1837C>T, NM_001369950.1:c.1465C>T, NM_001369947.1:c.1471C>T, NM_001369942.1:c.1645C>T, NM_001369944.1:c.1471C>T, NP_115580.2:p.Arg727Cys, XP_011528744.1:p.Arg732Cys, XP_011528746.1:p.Arg732Cys, XP_011528745.1:p.Arg732Cys, XP_011528747.1:p.Arg732Cys, XP_011528755.1:p.Arg618Cys, XP_011528756.1:p.Arg618Cys, XP_011528750.1:p.Arg679Cys, XP_011528757.1:p.Arg618Cys, XP_024308055.1:p.Arg786Cys, XP_024308056.1:p.Arg761Cys, XP_024308057.1:p.Arg756Cys, XP_024308058.1:p.Arg733Cys, XP_024308059.1:p.Arg728Cys, NP_001229835.1:p.Arg651Cys, XP_047297494.1:p.Arg781Cys, XP_047297498.1:p.Arg703Cys, XP_047297495.1:p.Arg732Cys, NP_001356860.1:p.Arg613Cys, XP_047297496.1:p.Arg727Cys, NP_001356850.1:p.Arg727Cys, NP_001356864.1:p.Arg613Cys, NP_001356877.1:p.Arg491Cys, NP_001356851.1:p.Arg727Cys, NP_001356861.1:p.Arg613Cys, NP_001356852.1:p.Arg727Cys, XP_047297500.1:p.Arg702Cys, NP_001356875.1:p.Arg491Cys, XP_047297502.1:p.Arg702Cys, NP_001356869.1:p.Arg613Cys, NP_001356874.1:p.Arg491Cys, NP_001356849.1:p.Arg732Cys, NP_001356867.1:p.Arg613Cys, NP_001356853.1:p.Arg723Cys, XP_047297499.1:p.Arg702Cys, NP_001356857.1:p.Arg674Cys, NP_001356862.1:p.Arg613Cys, XP_047297503.1:p.Arg674Cys, XP_047297497.1:p.Arg707Cys, XP_047297501.1:p.Arg702Cys, NP_001356855.1:p.Arg674Cys, NP_001356863.1:p.Arg613Cys, NP_001356870.1:p.Arg609Cys, NP_001356878.1:p.Arg491Cys, NP_001356854.1:p.Arg679Cys, NP_001356856.1:p.Arg674Cys, NP_001356868.1:p.Arg613Cys, NP_001356858.1:p.Arg670Cys, XP_047297504.1:p.Arg588Cys, NP_001356866.1:p.Arg613Cys, NP_001356872.1:p.Arg491Cys, NP_001356859.1:p.Arg649Cys, NP_001356865.1:p.Arg613Cys, NP_001356879.1:p.Arg489Cys, NP_001356876.1:p.Arg491Cys, NP_001356871.1:p.Arg549Cys, NP_001356873.1:p.Arg491Cys

          5.

          rs1483672151 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            22:29804732 (GRCh38)
            22:30200721 (GRCh37)
            Canonical SPDI:
            NC_000022.11:29804731:A:G
            Gene:
            ASCC2 (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)
            HGVS:
            NC_000022.11:g.29804732A>G, NC_000022.10:g.30200721A>G, NM_032204.5:c.1259T>C, NM_032204.4:c.1259T>C, XM_011530442.4:c.1259T>C, XM_011530442.3:c.1259T>C, XM_011530442.2:c.1259T>C, XM_011530442.1:c.1259T>C, XM_011530444.3:c.1259T>C, XM_011530444.2:c.1259T>C, XM_011530444.1:c.1259T>C, XM_011530443.3:c.1259T>C, XM_011530443.2:c.1259T>C, XM_011530443.1:c.1259T>C, XM_011530445.3:c.1259T>C, XM_011530445.2:c.1259T>C, XM_011530445.1:c.1259T>C, XM_011530453.3:c.917T>C, XM_011530453.2:c.917T>C, XM_011530453.1:c.917T>C, XM_011530454.3:c.917T>C, XM_011530454.2:c.917T>C, XM_011530454.1:c.917T>C, XM_011530448.3:c.1100T>C, XM_011530448.2:c.1100T>C, XM_011530448.1:c.1100T>C, XM_011530455.3:c.917T>C, XM_011530455.2:c.917T>C, XM_011530455.1:c.917T>C, XM_024452287.2:c.1421T>C, XM_024452287.1:c.1421T>C, XM_024452288.2:c.1346T>C, XM_024452288.1:c.1346T>C, XM_024452289.2:c.1346T>C, XM_024452289.1:c.1346T>C, XM_024452290.2:c.1262T>C, XM_024452290.1:c.1262T>C, XM_024452291.2:c.1262T>C, XM_024452291.1:c.1262T>C, NM_001242906.2:c.1031T>C, NM_001242906.1:c.1031T>C, XM_047441538.1:c.1421T>C, XM_047441542.1:c.1187T>C, XM_047441539.1:c.1259T>C, NM_001369931.1:c.917T>C, XM_047441540.1:c.1259T>C, NM_001369921.1:c.1259T>C, NM_001369935.1:c.917T>C, NM_001369948.1:c.551T>C, NM_001369922.1:c.1259T>C, NM_001369932.1:c.917T>C, NM_001369923.1:c.1259T>C, XM_047441544.1:c.1184T>C, NM_001369946.1:c.551T>C, XM_047441546.1:c.1184T>C, NM_001369940.1:c.917T>C, NM_001369945.1:c.551T>C, NM_001369920.1:c.1259T>C, NM_001369938.1:c.917T>C, NM_001369924.1:c.1259T>C, XM_047441543.1:c.1184T>C, NM_001369928.1:c.1100T>C, NM_001369933.1:c.917T>C, XM_047441547.1:c.1100T>C, XM_047441541.1:c.1184T>C, XM_047441545.1:c.1184T>C, NM_001369926.1:c.1100T>C, NM_001369934.1:c.917T>C, NM_001369941.1:c.917T>C, NM_001369949.1:c.551T>C, NM_001369925.1:c.1100T>C, NM_001369927.1:c.1100T>C, NM_001369939.1:c.917T>C, NM_001369929.1:c.1100T>C, XM_047441548.1:c.842T>C, NM_001369937.1:c.917T>C, NM_001369943.1:c.551T>C, NM_001369930.1:c.1025T>C, NM_001369936.1:c.917T>C, NM_001369950.1:c.551T>C, NM_001369947.1:c.551T>C, NM_001369942.1:c.725T>C, NM_001369944.1:c.551T>C, NP_115580.2:p.Ile420Thr, XP_011528744.1:p.Ile420Thr, XP_011528746.1:p.Ile420Thr, XP_011528745.1:p.Ile420Thr, XP_011528747.1:p.Ile420Thr, XP_011528755.1:p.Ile306Thr, XP_011528756.1:p.Ile306Thr, XP_011528750.1:p.Ile367Thr, XP_011528757.1:p.Ile306Thr, XP_024308055.1:p.Ile474Thr, XP_024308056.1:p.Ile449Thr, XP_024308057.1:p.Ile449Thr, XP_024308058.1:p.Ile421Thr, XP_024308059.1:p.Ile421Thr, NP_001229835.1:p.Ile344Thr, XP_047297494.1:p.Ile474Thr, XP_047297498.1:p.Ile396Thr, XP_047297495.1:p.Ile420Thr, NP_001356860.1:p.Ile306Thr, XP_047297496.1:p.Ile420Thr, NP_001356850.1:p.Ile420Thr, NP_001356864.1:p.Ile306Thr, NP_001356877.1:p.Ile184Thr, NP_001356851.1:p.Ile420Thr, NP_001356861.1:p.Ile306Thr, NP_001356852.1:p.Ile420Thr, XP_047297500.1:p.Ile395Thr, NP_001356875.1:p.Ile184Thr, XP_047297502.1:p.Ile395Thr, NP_001356869.1:p.Ile306Thr, NP_001356874.1:p.Ile184Thr, NP_001356849.1:p.Ile420Thr, NP_001356867.1:p.Ile306Thr, NP_001356853.1:p.Ile420Thr, XP_047297499.1:p.Ile395Thr, NP_001356857.1:p.Ile367Thr, NP_001356862.1:p.Ile306Thr, XP_047297503.1:p.Ile367Thr, XP_047297497.1:p.Ile395Thr, XP_047297501.1:p.Ile395Thr, NP_001356855.1:p.Ile367Thr, NP_001356863.1:p.Ile306Thr, NP_001356870.1:p.Ile306Thr, NP_001356878.1:p.Ile184Thr, NP_001356854.1:p.Ile367Thr, NP_001356856.1:p.Ile367Thr, NP_001356868.1:p.Ile306Thr, NP_001356858.1:p.Ile367Thr, XP_047297504.1:p.Ile281Thr, NP_001356866.1:p.Ile306Thr, NP_001356872.1:p.Ile184Thr, NP_001356859.1:p.Ile342Thr, NP_001356865.1:p.Ile306Thr, NP_001356879.1:p.Ile184Thr, NP_001356876.1:p.Ile184Thr, NP_001356871.1:p.Ile242Thr, NP_001356873.1:p.Ile184Thr

            6.

            rs1482760077 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:29816012 (GRCh38)
              22:30212001 (GRCh37)
              Canonical SPDI:
              NC_000022.11:29816011:G:A
              Gene:
              ASCC2 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
              HGVS:
              NC_000022.11:g.29816012G>A, NC_000022.10:g.30212001G>A, NM_032204.5:c.603C>T, NM_032204.4:c.603C>T, XM_011530442.4:c.603C>T, XM_011530442.3:c.603C>T, XM_011530442.2:c.603C>T, XM_011530442.1:c.603C>T, XM_011530444.3:c.603C>T, XM_011530444.2:c.603C>T, XM_011530444.1:c.603C>T, XM_011530443.3:c.603C>T, XM_011530443.2:c.603C>T, XM_011530443.1:c.603C>T, XM_011530445.3:c.603C>T, XM_011530445.2:c.603C>T, XM_011530445.1:c.603C>T, XM_011530453.3:c.261C>T, XM_011530453.2:c.261C>T, XM_011530453.1:c.261C>T, XM_011530454.3:c.261C>T, XM_011530454.2:c.261C>T, XM_011530454.1:c.261C>T, XM_011530448.3:c.444C>T, XM_011530448.2:c.444C>T, XM_011530448.1:c.444C>T, XM_011530455.3:c.261C>T, XM_011530455.2:c.261C>T, XM_011530455.1:c.261C>T, XM_024452287.2:c.765C>T, XM_024452287.1:c.765C>T, XM_024452288.2:c.765C>T, XM_024452288.1:c.765C>T, XM_024452289.2:c.765C>T, XM_024452289.1:c.765C>T, XM_024452290.2:c.606C>T, XM_024452290.1:c.606C>T, XM_024452291.2:c.606C>T, XM_024452291.1:c.606C>T, NM_001242906.2:c.375C>T, NM_001242906.1:c.375C>T, XM_047441538.1:c.765C>T, XM_047441542.1:c.606C>T, XM_047441539.1:c.603C>T, NM_001369931.1:c.261C>T, XM_047441540.1:c.603C>T, NM_001369921.1:c.603C>T, NM_001369935.1:c.261C>T, NM_001369948.1:c.-228C>T, NM_001369922.1:c.603C>T, NM_001369932.1:c.261C>T, NM_001369923.1:c.603C>T, XM_047441544.1:c.603C>T, NM_001369946.1:c.-106C>T, XM_047441546.1:c.603C>T, NM_001369940.1:c.261C>T, NM_001369945.1:c.-228C>T, NM_001369920.1:c.603C>T, NM_001369938.1:c.261C>T, NM_001369924.1:c.603C>T, XM_047441543.1:c.603C>T, NM_001369928.1:c.444C>T, NM_001369933.1:c.261C>T, XM_047441547.1:c.444C>T, XM_047441541.1:c.603C>T, XM_047441545.1:c.603C>T, NM_001369926.1:c.444C>T, NM_001369934.1:c.261C>T, NM_001369941.1:c.261C>T, NM_001369949.1:c.-228C>T, NM_001369925.1:c.444C>T, NM_001369927.1:c.444C>T, NM_001369939.1:c.261C>T, NM_001369929.1:c.444C>T, XM_047441548.1:c.261C>T, NM_001369937.1:c.261C>T, NM_001369943.1:c.-106C>T, NM_001369930.1:c.444C>T, NM_001369936.1:c.261C>T, NM_001369950.1:c.-228C>T, NM_001369947.1:c.-106C>T, NM_001369942.1:c.69C>T, NM_001369944.1:c.-106C>T

              7.

              rs1480820669 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                22:29806843 (GRCh38)
                22:30202832 (GRCh37)
                Canonical SPDI:
                NC_000022.11:29806842:GG:G
                Gene:
                ASCC2 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.29806844del, NC_000022.10:g.30202833del, NM_032204.5:c.970del, NM_032204.4:c.970del, XM_011530442.4:c.970del, XM_011530442.3:c.970del, XM_011530442.2:c.970del, XM_011530442.1:c.970del, XM_011530444.3:c.970del, XM_011530444.2:c.970del, XM_011530444.1:c.970del, XM_011530443.3:c.970del, XM_011530443.2:c.970del, XM_011530443.1:c.970del, XM_011530445.3:c.970del, XM_011530445.2:c.970del, XM_011530445.1:c.970del, XM_011530453.3:c.628del, XM_011530453.2:c.628del, XM_011530453.1:c.628del, XM_011530454.3:c.628del, XM_011530454.2:c.628del, XM_011530454.1:c.628del, XM_011530448.3:c.811del, XM_011530448.2:c.811del, XM_011530448.1:c.811del, XM_011530455.3:c.628del, XM_011530455.2:c.628del, XM_011530455.1:c.628del, XM_024452287.2:c.1132del, XM_024452287.1:c.1132del, XM_024452288.2:c.1057del, XM_024452288.1:c.1057del, XM_024452289.2:c.1057del, XM_024452289.1:c.1057del, XM_024452290.2:c.973del, XM_024452290.1:c.973del, XM_024452291.2:c.973del, XM_024452291.1:c.973del, NM_001242906.2:c.742del, NM_001242906.1:c.742del, XM_047441538.1:c.1132del, XM_047441542.1:c.898del, XM_047441539.1:c.970del, NM_001369931.1:c.628del, XM_047441540.1:c.970del, NM_001369921.1:c.970del, NM_001369935.1:c.628del, NM_001369948.1:c.262del, NM_001369922.1:c.970del, NM_001369932.1:c.628del, NM_001369923.1:c.970del, XM_047441544.1:c.895del, NM_001369946.1:c.262del, XM_047441546.1:c.895del, NM_001369940.1:c.628del, NM_001369945.1:c.262del, NM_001369920.1:c.970del, NM_001369938.1:c.628del, NM_001369924.1:c.970del, XM_047441543.1:c.895del, NM_001369928.1:c.811del, NM_001369933.1:c.628del, XM_047441547.1:c.811del, XM_047441541.1:c.895del, XM_047441545.1:c.895del, NM_001369926.1:c.811del, NM_001369934.1:c.628del, NM_001369941.1:c.628del, NM_001369949.1:c.262del, NM_001369925.1:c.811del, NM_001369927.1:c.811del, NM_001369939.1:c.628del, NM_001369929.1:c.811del, XM_047441548.1:c.553del, NM_001369937.1:c.628del, NM_001369943.1:c.262del, NM_001369930.1:c.736del, NM_001369936.1:c.628del, NM_001369950.1:c.262del, NM_001369947.1:c.262del, NM_001369942.1:c.436del, NM_001369944.1:c.262del, NP_115580.2:p.His324fs, XP_011528744.1:p.His324fs, XP_011528746.1:p.His324fs, XP_011528745.1:p.His324fs, XP_011528747.1:p.His324fs, XP_011528755.1:p.His210fs, XP_011528756.1:p.His210fs, XP_011528750.1:p.His271fs, XP_011528757.1:p.His210fs, XP_024308055.1:p.His378fs, XP_024308056.1:p.His353fs, XP_024308057.1:p.His353fs, XP_024308058.1:p.His325fs, XP_024308059.1:p.His325fs, NP_001229835.1:p.His248fs, XP_047297494.1:p.His378fs, XP_047297498.1:p.His300fs, XP_047297495.1:p.His324fs, NP_001356860.1:p.His210fs, XP_047297496.1:p.His324fs, NP_001356850.1:p.His324fs, NP_001356864.1:p.His210fs, NP_001356877.1:p.His88fs, NP_001356851.1:p.His324fs, NP_001356861.1:p.His210fs, NP_001356852.1:p.His324fs, XP_047297500.1:p.His299fs, NP_001356875.1:p.His88fs, XP_047297502.1:p.His299fs, NP_001356869.1:p.His210fs, NP_001356874.1:p.His88fs, NP_001356849.1:p.His324fs, NP_001356867.1:p.His210fs, NP_001356853.1:p.His324fs, XP_047297499.1:p.His299fs, NP_001356857.1:p.His271fs, NP_001356862.1:p.His210fs, XP_047297503.1:p.His271fs, XP_047297497.1:p.His299fs, XP_047297501.1:p.His299fs, NP_001356855.1:p.His271fs, NP_001356863.1:p.His210fs, NP_001356870.1:p.His210fs, NP_001356878.1:p.His88fs, NP_001356854.1:p.His271fs, NP_001356856.1:p.His271fs, NP_001356868.1:p.His210fs, NP_001356858.1:p.His271fs, XP_047297504.1:p.His185fs, NP_001356866.1:p.His210fs, NP_001356872.1:p.His88fs, NP_001356859.1:p.His246fs, NP_001356865.1:p.His210fs, NP_001356879.1:p.His88fs, NP_001356876.1:p.His88fs, NP_001356871.1:p.His146fs, NP_001356873.1:p.His88fs

                8.

                rs1479555981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  22:29806867 (GRCh38)
                  22:30202856 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:29806866:T:C
                  Gene:
                  ASCC2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000022.11:g.29806867T>C, NC_000022.10:g.30202856T>C, NM_032204.5:c.946A>G, NM_032204.4:c.946A>G, XM_011530442.4:c.946A>G, XM_011530442.3:c.946A>G, XM_011530442.2:c.946A>G, XM_011530442.1:c.946A>G, XM_011530444.3:c.946A>G, XM_011530444.2:c.946A>G, XM_011530444.1:c.946A>G, XM_011530443.3:c.946A>G, XM_011530443.2:c.946A>G, XM_011530443.1:c.946A>G, XM_011530445.3:c.946A>G, XM_011530445.2:c.946A>G, XM_011530445.1:c.946A>G, XM_011530453.3:c.604A>G, XM_011530453.2:c.604A>G, XM_011530453.1:c.604A>G, XM_011530454.3:c.604A>G, XM_011530454.2:c.604A>G, XM_011530454.1:c.604A>G, XM_011530448.3:c.787A>G, XM_011530448.2:c.787A>G, XM_011530448.1:c.787A>G, XM_011530455.3:c.604A>G, XM_011530455.2:c.604A>G, XM_011530455.1:c.604A>G, XM_024452287.2:c.1108A>G, XM_024452287.1:c.1108A>G, XM_024452288.2:c.1033A>G, XM_024452288.1:c.1033A>G, XM_024452289.2:c.1033A>G, XM_024452289.1:c.1033A>G, XM_024452290.2:c.949A>G, XM_024452290.1:c.949A>G, XM_024452291.2:c.949A>G, XM_024452291.1:c.949A>G, NM_001242906.2:c.718A>G, NM_001242906.1:c.718A>G, XM_047441538.1:c.1108A>G, XM_047441542.1:c.874A>G, XM_047441539.1:c.946A>G, NM_001369931.1:c.604A>G, XM_047441540.1:c.946A>G, NM_001369921.1:c.946A>G, NM_001369935.1:c.604A>G, NM_001369948.1:c.238A>G, NM_001369922.1:c.946A>G, NM_001369932.1:c.604A>G, NM_001369923.1:c.946A>G, XM_047441544.1:c.871A>G, NM_001369946.1:c.238A>G, XM_047441546.1:c.871A>G, NM_001369940.1:c.604A>G, NM_001369945.1:c.238A>G, NM_001369920.1:c.946A>G, NM_001369938.1:c.604A>G, NM_001369924.1:c.946A>G, XM_047441543.1:c.871A>G, NM_001369928.1:c.787A>G, NM_001369933.1:c.604A>G, XM_047441547.1:c.787A>G, XM_047441541.1:c.871A>G, XM_047441545.1:c.871A>G, NM_001369926.1:c.787A>G, NM_001369934.1:c.604A>G, NM_001369941.1:c.604A>G, NM_001369949.1:c.238A>G, NM_001369925.1:c.787A>G, NM_001369927.1:c.787A>G, NM_001369939.1:c.604A>G, NM_001369929.1:c.787A>G, XM_047441548.1:c.529A>G, NM_001369937.1:c.604A>G, NM_001369943.1:c.238A>G, NM_001369930.1:c.712A>G, NM_001369936.1:c.604A>G, NM_001369950.1:c.238A>G, NM_001369947.1:c.238A>G, NM_001369942.1:c.412A>G, NM_001369944.1:c.238A>G, NP_115580.2:p.Arg316Gly, XP_011528744.1:p.Arg316Gly, XP_011528746.1:p.Arg316Gly, XP_011528745.1:p.Arg316Gly, XP_011528747.1:p.Arg316Gly, XP_011528755.1:p.Arg202Gly, XP_011528756.1:p.Arg202Gly, XP_011528750.1:p.Arg263Gly, XP_011528757.1:p.Arg202Gly, XP_024308055.1:p.Arg370Gly, XP_024308056.1:p.Arg345Gly, XP_024308057.1:p.Arg345Gly, XP_024308058.1:p.Arg317Gly, XP_024308059.1:p.Arg317Gly, NP_001229835.1:p.Arg240Gly, XP_047297494.1:p.Arg370Gly, XP_047297498.1:p.Arg292Gly, XP_047297495.1:p.Arg316Gly, NP_001356860.1:p.Arg202Gly, XP_047297496.1:p.Arg316Gly, NP_001356850.1:p.Arg316Gly, NP_001356864.1:p.Arg202Gly, NP_001356877.1:p.Arg80Gly, NP_001356851.1:p.Arg316Gly, NP_001356861.1:p.Arg202Gly, NP_001356852.1:p.Arg316Gly, XP_047297500.1:p.Arg291Gly, NP_001356875.1:p.Arg80Gly, XP_047297502.1:p.Arg291Gly, NP_001356869.1:p.Arg202Gly, NP_001356874.1:p.Arg80Gly, NP_001356849.1:p.Arg316Gly, NP_001356867.1:p.Arg202Gly, NP_001356853.1:p.Arg316Gly, XP_047297499.1:p.Arg291Gly, NP_001356857.1:p.Arg263Gly, NP_001356862.1:p.Arg202Gly, XP_047297503.1:p.Arg263Gly, XP_047297497.1:p.Arg291Gly, XP_047297501.1:p.Arg291Gly, NP_001356855.1:p.Arg263Gly, NP_001356863.1:p.Arg202Gly, NP_001356870.1:p.Arg202Gly, NP_001356878.1:p.Arg80Gly, NP_001356854.1:p.Arg263Gly, NP_001356856.1:p.Arg263Gly, NP_001356868.1:p.Arg202Gly, NP_001356858.1:p.Arg263Gly, XP_047297504.1:p.Arg177Gly, NP_001356866.1:p.Arg202Gly, NP_001356872.1:p.Arg80Gly, NP_001356859.1:p.Arg238Gly, NP_001356865.1:p.Arg202Gly, NP_001356879.1:p.Arg80Gly, NP_001356876.1:p.Arg80Gly, NP_001356871.1:p.Arg138Gly, NP_001356873.1:p.Arg80Gly

                  9.

                  rs1474295177 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    22:29814658 (GRCh38)
                    22:30210647 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:29814657:A:C
                    Gene:
                    ASCC2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000022.11:g.29814658A>C, NC_000022.10:g.30210647A>C, NM_032204.5:c.719T>G, NM_032204.4:c.719T>G, XM_011530442.4:c.719T>G, XM_011530442.3:c.719T>G, XM_011530442.2:c.719T>G, XM_011530442.1:c.719T>G, XM_011530444.3:c.719T>G, XM_011530444.2:c.719T>G, XM_011530444.1:c.719T>G, XM_011530443.3:c.719T>G, XM_011530443.2:c.719T>G, XM_011530443.1:c.719T>G, XM_011530445.3:c.719T>G, XM_011530445.2:c.719T>G, XM_011530445.1:c.719T>G, XM_011530453.3:c.377T>G, XM_011530453.2:c.377T>G, XM_011530453.1:c.377T>G, XM_011530454.3:c.377T>G, XM_011530454.2:c.377T>G, XM_011530454.1:c.377T>G, XM_011530448.3:c.560T>G, XM_011530448.2:c.560T>G, XM_011530448.1:c.560T>G, XM_011530455.3:c.377T>G, XM_011530455.2:c.377T>G, XM_011530455.1:c.377T>G, XM_024452287.2:c.881T>G, XM_024452287.1:c.881T>G, XM_024452288.2:c.881T>G, XM_024452288.1:c.881T>G, XM_024452289.2:c.881T>G, XM_024452289.1:c.881T>G, XM_024452290.2:c.722T>G, XM_024452290.1:c.722T>G, XM_024452291.2:c.722T>G, XM_024452291.1:c.722T>G, NM_001242906.2:c.491T>G, NM_001242906.1:c.491T>G, XM_047441538.1:c.881T>G, XM_047441542.1:c.722T>G, XM_047441539.1:c.719T>G, NM_001369931.1:c.377T>G, XM_047441540.1:c.719T>G, NM_001369921.1:c.719T>G, NM_001369935.1:c.377T>G, NM_001369948.1:c.11T>G, NM_001369922.1:c.719T>G, NM_001369932.1:c.377T>G, NM_001369923.1:c.719T>G, XM_047441544.1:c.719T>G, NM_001369946.1:c.11T>G, XM_047441546.1:c.719T>G, NM_001369940.1:c.377T>G, NM_001369945.1:c.11T>G, NM_001369920.1:c.719T>G, NM_001369938.1:c.377T>G, NM_001369924.1:c.719T>G, XM_047441543.1:c.719T>G, NM_001369928.1:c.560T>G, NM_001369933.1:c.377T>G, XM_047441547.1:c.560T>G, XM_047441541.1:c.719T>G, XM_047441545.1:c.719T>G, NM_001369926.1:c.560T>G, NM_001369934.1:c.377T>G, NM_001369941.1:c.377T>G, NM_001369949.1:c.11T>G, NM_001369925.1:c.560T>G, NM_001369927.1:c.560T>G, NM_001369939.1:c.377T>G, NM_001369929.1:c.560T>G, XM_047441548.1:c.377T>G, NM_001369937.1:c.377T>G, NM_001369943.1:c.11T>G, NM_001369930.1:c.560T>G, NM_001369936.1:c.377T>G, NM_001369950.1:c.11T>G, NM_001369947.1:c.11T>G, NM_001369942.1:c.185T>G, NM_001369944.1:c.11T>G, NP_115580.2:p.Leu240Arg, XP_011528744.1:p.Leu240Arg, XP_011528746.1:p.Leu240Arg, XP_011528745.1:p.Leu240Arg, XP_011528747.1:p.Leu240Arg, XP_011528755.1:p.Leu126Arg, XP_011528756.1:p.Leu126Arg, XP_011528750.1:p.Leu187Arg, XP_011528757.1:p.Leu126Arg, XP_024308055.1:p.Leu294Arg, XP_024308056.1:p.Leu294Arg, XP_024308057.1:p.Leu294Arg, XP_024308058.1:p.Leu241Arg, XP_024308059.1:p.Leu241Arg, NP_001229835.1:p.Leu164Arg, XP_047297494.1:p.Leu294Arg, XP_047297498.1:p.Leu241Arg, XP_047297495.1:p.Leu240Arg, NP_001356860.1:p.Leu126Arg, XP_047297496.1:p.Leu240Arg, NP_001356850.1:p.Leu240Arg, NP_001356864.1:p.Leu126Arg, NP_001356877.1:p.Leu4Arg, NP_001356851.1:p.Leu240Arg, NP_001356861.1:p.Leu126Arg, NP_001356852.1:p.Leu240Arg, XP_047297500.1:p.Leu240Arg, NP_001356875.1:p.Leu4Arg, XP_047297502.1:p.Leu240Arg, NP_001356869.1:p.Leu126Arg, NP_001356874.1:p.Leu4Arg, NP_001356849.1:p.Leu240Arg, NP_001356867.1:p.Leu126Arg, NP_001356853.1:p.Leu240Arg, XP_047297499.1:p.Leu240Arg, NP_001356857.1:p.Leu187Arg, NP_001356862.1:p.Leu126Arg, XP_047297503.1:p.Leu187Arg, XP_047297497.1:p.Leu240Arg, XP_047297501.1:p.Leu240Arg, NP_001356855.1:p.Leu187Arg, NP_001356863.1:p.Leu126Arg, NP_001356870.1:p.Leu126Arg, NP_001356878.1:p.Leu4Arg, NP_001356854.1:p.Leu187Arg, NP_001356856.1:p.Leu187Arg, NP_001356868.1:p.Leu126Arg, NP_001356858.1:p.Leu187Arg, XP_047297504.1:p.Leu126Arg, NP_001356866.1:p.Leu126Arg, NP_001356872.1:p.Leu4Arg, NP_001356859.1:p.Leu187Arg, NP_001356865.1:p.Leu126Arg, NP_001356879.1:p.Leu4Arg, NP_001356876.1:p.Leu4Arg, NP_001356871.1:p.Leu62Arg, NP_001356873.1:p.Leu4Arg

                    10.

                    rs1473780511 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      22:29822459 (GRCh38)
                      22:30218448 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:29822458:G:C
                      Gene:
                      ASCC2 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000022.11:g.29822459G>C, NC_000022.10:g.30218448G>C, NM_032204.5:c.417C>G, NM_032204.4:c.417C>G, XM_011530442.4:c.417C>G, XM_011530442.3:c.417C>G, XM_011530442.2:c.417C>G, XM_011530442.1:c.417C>G, XM_011530444.3:c.417C>G, XM_011530444.2:c.417C>G, XM_011530444.1:c.417C>G, XM_011530443.3:c.417C>G, XM_011530443.2:c.417C>G, XM_011530443.1:c.417C>G, XM_011530445.3:c.417C>G, XM_011530445.2:c.417C>G, XM_011530445.1:c.417C>G, XM_011530453.3:c.75C>G, XM_011530453.2:c.75C>G, XM_011530453.1:c.75C>G, XM_011530454.3:c.75C>G, XM_011530454.2:c.75C>G, XM_011530454.1:c.75C>G, XM_011530448.3:c.258C>G, XM_011530448.2:c.258C>G, XM_011530448.1:c.258C>G, XM_011530455.3:c.75C>G, XM_011530455.2:c.75C>G, XM_011530455.1:c.75C>G, XM_024452287.2:c.579C>G, XM_024452287.1:c.579C>G, XM_024452288.2:c.579C>G, XM_024452288.1:c.579C>G, XM_024452289.2:c.579C>G, XM_024452289.1:c.579C>G, XM_024452290.2:c.420C>G, XM_024452290.1:c.420C>G, XM_024452291.2:c.420C>G, XM_024452291.1:c.420C>G, XM_047441538.1:c.579C>G, XM_047441542.1:c.420C>G, XM_047441539.1:c.417C>G, NM_001369931.1:c.75C>G, XM_047441540.1:c.417C>G, NM_001369921.1:c.417C>G, NM_001369935.1:c.75C>G, NM_001369948.1:c.-414C>G, NM_001369922.1:c.417C>G, NM_001369932.1:c.75C>G, NM_001369923.1:c.417C>G, XM_047441544.1:c.417C>G, XM_047441546.1:c.417C>G, NM_001369940.1:c.75C>G, NM_001369945.1:c.-414C>G, NM_001369920.1:c.417C>G, NM_001369938.1:c.75C>G, NM_001369924.1:c.417C>G, XM_047441543.1:c.417C>G, NM_001369928.1:c.258C>G, NM_001369933.1:c.75C>G, XM_047441547.1:c.258C>G, XM_047441541.1:c.417C>G, XM_047441545.1:c.417C>G, NM_001369926.1:c.258C>G, NM_001369934.1:c.75C>G, NM_001369941.1:c.75C>G, NM_001369949.1:c.-414C>G, NM_001369925.1:c.258C>G, NM_001369927.1:c.258C>G, NM_001369939.1:c.75C>G, NM_001369929.1:c.258C>G, XM_047441548.1:c.75C>G, NM_001369937.1:c.75C>G, NM_001369930.1:c.258C>G, NM_001369936.1:c.75C>G, NM_001369942.1:c.-118C>G, NP_115580.2:p.His139Gln, XP_011528744.1:p.His139Gln, XP_011528746.1:p.His139Gln, XP_011528745.1:p.His139Gln, XP_011528747.1:p.His139Gln, XP_011528755.1:p.His25Gln, XP_011528756.1:p.His25Gln, XP_011528750.1:p.His86Gln, XP_011528757.1:p.His25Gln, XP_024308055.1:p.His193Gln, XP_024308056.1:p.His193Gln, XP_024308057.1:p.His193Gln, XP_024308058.1:p.His140Gln, XP_024308059.1:p.His140Gln, XP_047297494.1:p.His193Gln, XP_047297498.1:p.His140Gln, XP_047297495.1:p.His139Gln, NP_001356860.1:p.His25Gln, XP_047297496.1:p.His139Gln, NP_001356850.1:p.His139Gln, NP_001356864.1:p.His25Gln, NP_001356851.1:p.His139Gln, NP_001356861.1:p.His25Gln, NP_001356852.1:p.His139Gln, XP_047297500.1:p.His139Gln, XP_047297502.1:p.His139Gln, NP_001356869.1:p.His25Gln, NP_001356849.1:p.His139Gln, NP_001356867.1:p.His25Gln, NP_001356853.1:p.His139Gln, XP_047297499.1:p.His139Gln, NP_001356857.1:p.His86Gln, NP_001356862.1:p.His25Gln, XP_047297503.1:p.His86Gln, XP_047297497.1:p.His139Gln, XP_047297501.1:p.His139Gln, NP_001356855.1:p.His86Gln, NP_001356863.1:p.His25Gln, NP_001356870.1:p.His25Gln, NP_001356854.1:p.His86Gln, NP_001356856.1:p.His86Gln, NP_001356868.1:p.His25Gln, NP_001356858.1:p.His86Gln, XP_047297504.1:p.His25Gln, NP_001356866.1:p.His25Gln, NP_001356859.1:p.His86Gln, NP_001356865.1:p.His25Gln

                      11.

                      rs1471824350 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        22:29814747 (GRCh38)
                        22:30210736 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:29814746:C:A
                        Gene:
                        ASCC2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000022.11:g.29814747C>A, NC_000022.10:g.30210736C>A, NM_032204.5:c.630G>T, NM_032204.4:c.630G>T, XM_011530442.4:c.630G>T, XM_011530442.3:c.630G>T, XM_011530442.2:c.630G>T, XM_011530442.1:c.630G>T, XM_011530444.3:c.630G>T, XM_011530444.2:c.630G>T, XM_011530444.1:c.630G>T, XM_011530443.3:c.630G>T, XM_011530443.2:c.630G>T, XM_011530443.1:c.630G>T, XM_011530445.3:c.630G>T, XM_011530445.2:c.630G>T, XM_011530445.1:c.630G>T, XM_011530453.3:c.288G>T, XM_011530453.2:c.288G>T, XM_011530453.1:c.288G>T, XM_011530454.3:c.288G>T, XM_011530454.2:c.288G>T, XM_011530454.1:c.288G>T, XM_011530448.3:c.471G>T, XM_011530448.2:c.471G>T, XM_011530448.1:c.471G>T, XM_011530455.3:c.288G>T, XM_011530455.2:c.288G>T, XM_011530455.1:c.288G>T, XM_024452287.2:c.792G>T, XM_024452287.1:c.792G>T, XM_024452288.2:c.792G>T, XM_024452288.1:c.792G>T, XM_024452289.2:c.792G>T, XM_024452289.1:c.792G>T, XM_024452290.2:c.633G>T, XM_024452290.1:c.633G>T, XM_024452291.2:c.633G>T, XM_024452291.1:c.633G>T, NM_001242906.2:c.402G>T, NM_001242906.1:c.402G>T, XM_047441538.1:c.792G>T, XM_047441542.1:c.633G>T, XM_047441539.1:c.630G>T, NM_001369931.1:c.288G>T, XM_047441540.1:c.630G>T, NM_001369921.1:c.630G>T, NM_001369935.1:c.288G>T, NM_001369948.1:c.-79G>T, NM_001369922.1:c.630G>T, NM_001369932.1:c.288G>T, NM_001369923.1:c.630G>T, XM_047441544.1:c.630G>T, NM_001369946.1:c.-79G>T, XM_047441546.1:c.630G>T, NM_001369940.1:c.288G>T, NM_001369945.1:c.-79G>T, NM_001369920.1:c.630G>T, NM_001369938.1:c.288G>T, NM_001369924.1:c.630G>T, XM_047441543.1:c.630G>T, NM_001369928.1:c.471G>T, NM_001369933.1:c.288G>T, XM_047441547.1:c.471G>T, XM_047441541.1:c.630G>T, XM_047441545.1:c.630G>T, NM_001369926.1:c.471G>T, NM_001369934.1:c.288G>T, NM_001369941.1:c.288G>T, NM_001369949.1:c.-79G>T, NM_001369925.1:c.471G>T, NM_001369927.1:c.471G>T, NM_001369939.1:c.288G>T, NM_001369929.1:c.471G>T, XM_047441548.1:c.288G>T, NM_001369937.1:c.288G>T, NM_001369943.1:c.-79G>T, NM_001369930.1:c.471G>T, NM_001369936.1:c.288G>T, NM_001369950.1:c.-79G>T, NM_001369947.1:c.-79G>T, NM_001369942.1:c.96G>T, NM_001369944.1:c.-79G>T, NP_115580.2:p.Gln210His, XP_011528744.1:p.Gln210His, XP_011528746.1:p.Gln210His, XP_011528745.1:p.Gln210His, XP_011528747.1:p.Gln210His, XP_011528755.1:p.Gln96His, XP_011528756.1:p.Gln96His, XP_011528750.1:p.Gln157His, XP_011528757.1:p.Gln96His, XP_024308055.1:p.Gln264His, XP_024308056.1:p.Gln264His, XP_024308057.1:p.Gln264His, XP_024308058.1:p.Gln211His, XP_024308059.1:p.Gln211His, NP_001229835.1:p.Gln134His, XP_047297494.1:p.Gln264His, XP_047297498.1:p.Gln211His, XP_047297495.1:p.Gln210His, NP_001356860.1:p.Gln96His, XP_047297496.1:p.Gln210His, NP_001356850.1:p.Gln210His, NP_001356864.1:p.Gln96His, NP_001356851.1:p.Gln210His, NP_001356861.1:p.Gln96His, NP_001356852.1:p.Gln210His, XP_047297500.1:p.Gln210His, XP_047297502.1:p.Gln210His, NP_001356869.1:p.Gln96His, NP_001356849.1:p.Gln210His, NP_001356867.1:p.Gln96His, NP_001356853.1:p.Gln210His, XP_047297499.1:p.Gln210His, NP_001356857.1:p.Gln157His, NP_001356862.1:p.Gln96His, XP_047297503.1:p.Gln157His, XP_047297497.1:p.Gln210His, XP_047297501.1:p.Gln210His, NP_001356855.1:p.Gln157His, NP_001356863.1:p.Gln96His, NP_001356870.1:p.Gln96His, NP_001356854.1:p.Gln157His, NP_001356856.1:p.Gln157His, NP_001356868.1:p.Gln96His, NP_001356858.1:p.Gln157His, XP_047297504.1:p.Gln96His, NP_001356866.1:p.Gln96His, NP_001356859.1:p.Gln157His, NP_001356865.1:p.Gln96His, NP_001356871.1:p.Gln32His

                        12.

                        rs1471401002 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CCT>- [Show Flanks]
                          Chromosome:
                          22:29806492 (GRCh38)
                          22:30202481 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:29806489:CTCCT:CT
                          Gene:
                          ASCC2 (Varview)
                          Functional Consequence:
                          inframe_deletion,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000022.11:g.29806492_29806494del, NC_000022.10:g.30202481_30202483del, NM_032204.5:c.1078_1080del, NM_032204.4:c.1078_1080del, XM_011530442.4:c.1078_1080del, XM_011530442.3:c.1078_1080del, XM_011530442.2:c.1078_1080del, XM_011530442.1:c.1078_1080del, XM_011530444.3:c.1078_1080del, XM_011530444.2:c.1078_1080del, XM_011530444.1:c.1078_1080del, XM_011530443.3:c.1078_1080del, XM_011530443.2:c.1078_1080del, XM_011530443.1:c.1078_1080del, XM_011530445.3:c.1078_1080del, XM_011530445.2:c.1078_1080del, XM_011530445.1:c.1078_1080del, XM_011530453.3:c.736_738del, XM_011530453.2:c.736_738del, XM_011530453.1:c.736_738del, XM_011530454.3:c.736_738del, XM_011530454.2:c.736_738del, XM_011530454.1:c.736_738del, XM_011530448.3:c.919_921del, XM_011530448.2:c.919_921del, XM_011530448.1:c.919_921del, XM_011530455.3:c.736_738del, XM_011530455.2:c.736_738del, XM_011530455.1:c.736_738del, XM_024452287.2:c.1240_1242del, XM_024452287.1:c.1240_1242del, XM_024452288.2:c.1165_1167del, XM_024452288.1:c.1165_1167del, XM_024452289.2:c.1165_1167del, XM_024452289.1:c.1165_1167del, XM_024452290.2:c.1081_1083del, XM_024452290.1:c.1081_1083del, XM_024452291.2:c.1081_1083del, XM_024452291.1:c.1081_1083del, NM_001242906.2:c.850_852del, NM_001242906.1:c.850_852del, XM_047441538.1:c.1240_1242del, XM_047441542.1:c.1006_1008del, XM_047441539.1:c.1078_1080del, NM_001369931.1:c.736_738del, XM_047441540.1:c.1078_1080del, NM_001369921.1:c.1078_1080del, NM_001369935.1:c.736_738del, NM_001369948.1:c.370_372del, NM_001369922.1:c.1078_1080del, NM_001369932.1:c.736_738del, NM_001369923.1:c.1078_1080del, XM_047441544.1:c.1003_1005del, NM_001369946.1:c.370_372del, XM_047441546.1:c.1003_1005del, NM_001369940.1:c.736_738del, NM_001369945.1:c.370_372del, NM_001369920.1:c.1078_1080del, NM_001369938.1:c.736_738del, NM_001369924.1:c.1078_1080del, XM_047441543.1:c.1003_1005del, NM_001369928.1:c.919_921del, NM_001369933.1:c.736_738del, XM_047441547.1:c.919_921del, XM_047441541.1:c.1003_1005del, XM_047441545.1:c.1003_1005del, NM_001369926.1:c.919_921del, NM_001369934.1:c.736_738del, NM_001369941.1:c.736_738del, NM_001369949.1:c.370_372del, NM_001369925.1:c.919_921del, NM_001369927.1:c.919_921del, NM_001369939.1:c.736_738del, NM_001369929.1:c.919_921del, XM_047441548.1:c.661_663del, NM_001369937.1:c.736_738del, NM_001369943.1:c.370_372del, NM_001369930.1:c.844_846del, NM_001369936.1:c.736_738del, NM_001369950.1:c.370_372del, NM_001369947.1:c.370_372del, NM_001369942.1:c.544_546del, NM_001369944.1:c.370_372del, NP_115580.2:p.Glu360del, XP_011528744.1:p.Glu360del, XP_011528746.1:p.Glu360del, XP_011528745.1:p.Glu360del, XP_011528747.1:p.Glu360del, XP_011528755.1:p.Glu246del, XP_011528756.1:p.Glu246del, XP_011528750.1:p.Glu307del, XP_011528757.1:p.Glu246del, XP_024308055.1:p.Glu414del, XP_024308056.1:p.Glu389del, XP_024308057.1:p.Glu389del, XP_024308058.1:p.Glu361del, XP_024308059.1:p.Glu361del, NP_001229835.1:p.Glu284del, XP_047297494.1:p.Glu414del, XP_047297498.1:p.Glu336del, XP_047297495.1:p.Glu360del, NP_001356860.1:p.Glu246del, XP_047297496.1:p.Glu360del, NP_001356850.1:p.Glu360del, NP_001356864.1:p.Glu246del, NP_001356877.1:p.Glu124del, NP_001356851.1:p.Glu360del, NP_001356861.1:p.Glu246del, NP_001356852.1:p.Glu360del, XP_047297500.1:p.Glu335del, NP_001356875.1:p.Glu124del, XP_047297502.1:p.Glu335del, NP_001356869.1:p.Glu246del, NP_001356874.1:p.Glu124del, NP_001356849.1:p.Glu360del, NP_001356867.1:p.Glu246del, NP_001356853.1:p.Glu360del, XP_047297499.1:p.Glu335del, NP_001356857.1:p.Glu307del, NP_001356862.1:p.Glu246del, XP_047297503.1:p.Glu307del, XP_047297497.1:p.Glu335del, XP_047297501.1:p.Glu335del, NP_001356855.1:p.Glu307del, NP_001356863.1:p.Glu246del, NP_001356870.1:p.Glu246del, NP_001356878.1:p.Glu124del, NP_001356854.1:p.Glu307del, NP_001356856.1:p.Glu307del, NP_001356868.1:p.Glu246del, NP_001356858.1:p.Glu307del, XP_047297504.1:p.Glu221del, NP_001356866.1:p.Glu246del, NP_001356872.1:p.Glu124del, NP_001356859.1:p.Glu282del, NP_001356865.1:p.Glu246del, NP_001356879.1:p.Glu124del, NP_001356876.1:p.Glu124del, NP_001356871.1:p.Glu182del, NP_001356873.1:p.Glu124del

                          13.

                          rs1468440130 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            22:29806798 (GRCh38)
                            22:30202787 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:29806797:T:C
                            Gene:
                            ASCC2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000022.11:g.29806798T>C, NC_000022.10:g.30202787T>C, NM_032204.5:c.1015A>G, NM_032204.4:c.1015A>G, XM_011530442.4:c.1015A>G, XM_011530442.3:c.1015A>G, XM_011530442.2:c.1015A>G, XM_011530442.1:c.1015A>G, XM_011530444.3:c.1015A>G, XM_011530444.2:c.1015A>G, XM_011530444.1:c.1015A>G, XM_011530443.3:c.1015A>G, XM_011530443.2:c.1015A>G, XM_011530443.1:c.1015A>G, XM_011530445.3:c.1015A>G, XM_011530445.2:c.1015A>G, XM_011530445.1:c.1015A>G, XM_011530453.3:c.673A>G, XM_011530453.2:c.673A>G, XM_011530453.1:c.673A>G, XM_011530454.3:c.673A>G, XM_011530454.2:c.673A>G, XM_011530454.1:c.673A>G, XM_011530448.3:c.856A>G, XM_011530448.2:c.856A>G, XM_011530448.1:c.856A>G, XM_011530455.3:c.673A>G, XM_011530455.2:c.673A>G, XM_011530455.1:c.673A>G, XM_024452287.2:c.1177A>G, XM_024452287.1:c.1177A>G, XM_024452288.2:c.1102A>G, XM_024452288.1:c.1102A>G, XM_024452289.2:c.1102A>G, XM_024452289.1:c.1102A>G, XM_024452290.2:c.1018A>G, XM_024452290.1:c.1018A>G, XM_024452291.2:c.1018A>G, XM_024452291.1:c.1018A>G, NM_001242906.2:c.787A>G, NM_001242906.1:c.787A>G, XM_047441538.1:c.1177A>G, XM_047441542.1:c.943A>G, XM_047441539.1:c.1015A>G, NM_001369931.1:c.673A>G, XM_047441540.1:c.1015A>G, NM_001369921.1:c.1015A>G, NM_001369935.1:c.673A>G, NM_001369948.1:c.307A>G, NM_001369922.1:c.1015A>G, NM_001369932.1:c.673A>G, NM_001369923.1:c.1015A>G, XM_047441544.1:c.940A>G, NM_001369946.1:c.307A>G, XM_047441546.1:c.940A>G, NM_001369940.1:c.673A>G, NM_001369945.1:c.307A>G, NM_001369920.1:c.1015A>G, NM_001369938.1:c.673A>G, NM_001369924.1:c.1015A>G, XM_047441543.1:c.940A>G, NM_001369928.1:c.856A>G, NM_001369933.1:c.673A>G, XM_047441547.1:c.856A>G, XM_047441541.1:c.940A>G, XM_047441545.1:c.940A>G, NM_001369926.1:c.856A>G, NM_001369934.1:c.673A>G, NM_001369941.1:c.673A>G, NM_001369949.1:c.307A>G, NM_001369925.1:c.856A>G, NM_001369927.1:c.856A>G, NM_001369939.1:c.673A>G, NM_001369929.1:c.856A>G, XM_047441548.1:c.598A>G, NM_001369937.1:c.673A>G, NM_001369943.1:c.307A>G, NM_001369930.1:c.781A>G, NM_001369936.1:c.673A>G, NM_001369950.1:c.307A>G, NM_001369947.1:c.307A>G, NM_001369942.1:c.481A>G, NM_001369944.1:c.307A>G, NP_115580.2:p.Ser339Gly, XP_011528744.1:p.Ser339Gly, XP_011528746.1:p.Ser339Gly, XP_011528745.1:p.Ser339Gly, XP_011528747.1:p.Ser339Gly, XP_011528755.1:p.Ser225Gly, XP_011528756.1:p.Ser225Gly, XP_011528750.1:p.Ser286Gly, XP_011528757.1:p.Ser225Gly, XP_024308055.1:p.Ser393Gly, XP_024308056.1:p.Ser368Gly, XP_024308057.1:p.Ser368Gly, XP_024308058.1:p.Ser340Gly, XP_024308059.1:p.Ser340Gly, NP_001229835.1:p.Ser263Gly, XP_047297494.1:p.Ser393Gly, XP_047297498.1:p.Ser315Gly, XP_047297495.1:p.Ser339Gly, NP_001356860.1:p.Ser225Gly, XP_047297496.1:p.Ser339Gly, NP_001356850.1:p.Ser339Gly, NP_001356864.1:p.Ser225Gly, NP_001356877.1:p.Ser103Gly, NP_001356851.1:p.Ser339Gly, NP_001356861.1:p.Ser225Gly, NP_001356852.1:p.Ser339Gly, XP_047297500.1:p.Ser314Gly, NP_001356875.1:p.Ser103Gly, XP_047297502.1:p.Ser314Gly, NP_001356869.1:p.Ser225Gly, NP_001356874.1:p.Ser103Gly, NP_001356849.1:p.Ser339Gly, NP_001356867.1:p.Ser225Gly, NP_001356853.1:p.Ser339Gly, XP_047297499.1:p.Ser314Gly, NP_001356857.1:p.Ser286Gly, NP_001356862.1:p.Ser225Gly, XP_047297503.1:p.Ser286Gly, XP_047297497.1:p.Ser314Gly, XP_047297501.1:p.Ser314Gly, NP_001356855.1:p.Ser286Gly, NP_001356863.1:p.Ser225Gly, NP_001356870.1:p.Ser225Gly, NP_001356878.1:p.Ser103Gly, NP_001356854.1:p.Ser286Gly, NP_001356856.1:p.Ser286Gly, NP_001356868.1:p.Ser225Gly, NP_001356858.1:p.Ser286Gly, XP_047297504.1:p.Ser200Gly, NP_001356866.1:p.Ser225Gly, NP_001356872.1:p.Ser103Gly, NP_001356859.1:p.Ser261Gly, NP_001356865.1:p.Ser225Gly, NP_001356879.1:p.Ser103Gly, NP_001356876.1:p.Ser103Gly, NP_001356871.1:p.Ser161Gly, NP_001356873.1:p.Ser103Gly

                            14.

                            rs1463888408 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              22:29816036 (GRCh38)
                              22:30212025 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:29816035:G:A,NC_000022.11:29816035:G:C
                              Gene:
                              ASCC2 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,missense_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              C=0.000018/4 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.29816036G>A, NC_000022.11:g.29816036G>C, NC_000022.10:g.30212025G>A, NC_000022.10:g.30212025G>C, NM_032204.5:c.579C>T, NM_032204.5:c.579C>G, NM_032204.4:c.579C>T, NM_032204.4:c.579C>G, XM_011530442.4:c.579C>T, XM_011530442.4:c.579C>G, XM_011530442.3:c.579C>T, XM_011530442.3:c.579C>G, XM_011530442.2:c.579C>T, XM_011530442.2:c.579C>G, XM_011530442.1:c.579C>T, XM_011530442.1:c.579C>G, XM_011530444.3:c.579C>T, XM_011530444.3:c.579C>G, XM_011530444.2:c.579C>T, XM_011530444.2:c.579C>G, XM_011530444.1:c.579C>T, XM_011530444.1:c.579C>G, XM_011530443.3:c.579C>T, XM_011530443.3:c.579C>G, XM_011530443.2:c.579C>T, XM_011530443.2:c.579C>G, XM_011530443.1:c.579C>T, XM_011530443.1:c.579C>G, XM_011530445.3:c.579C>T, XM_011530445.3:c.579C>G, XM_011530445.2:c.579C>T, XM_011530445.2:c.579C>G, XM_011530445.1:c.579C>T, XM_011530445.1:c.579C>G, XM_011530453.3:c.237C>T, XM_011530453.3:c.237C>G, XM_011530453.2:c.237C>T, XM_011530453.2:c.237C>G, XM_011530453.1:c.237C>T, XM_011530453.1:c.237C>G, XM_011530454.3:c.237C>T, XM_011530454.3:c.237C>G, XM_011530454.2:c.237C>T, XM_011530454.2:c.237C>G, XM_011530454.1:c.237C>T, XM_011530454.1:c.237C>G, XM_011530448.3:c.420C>T, XM_011530448.3:c.420C>G, XM_011530448.2:c.420C>T, XM_011530448.2:c.420C>G, XM_011530448.1:c.420C>T, XM_011530448.1:c.420C>G, XM_011530455.3:c.237C>T, XM_011530455.3:c.237C>G, XM_011530455.2:c.237C>T, XM_011530455.2:c.237C>G, XM_011530455.1:c.237C>T, XM_011530455.1:c.237C>G, XM_024452287.2:c.741C>T, XM_024452287.2:c.741C>G, XM_024452287.1:c.741C>T, XM_024452287.1:c.741C>G, XM_024452288.2:c.741C>T, XM_024452288.2:c.741C>G, XM_024452288.1:c.741C>T, XM_024452288.1:c.741C>G, XM_024452289.2:c.741C>T, XM_024452289.2:c.741C>G, XM_024452289.1:c.741C>T, XM_024452289.1:c.741C>G, XM_024452290.2:c.582C>T, XM_024452290.2:c.582C>G, XM_024452290.1:c.582C>T, XM_024452290.1:c.582C>G, XM_024452291.2:c.582C>T, XM_024452291.2:c.582C>G, XM_024452291.1:c.582C>T, XM_024452291.1:c.582C>G, NM_001242906.2:c.351C>T, NM_001242906.2:c.351C>G, NM_001242906.1:c.351C>T, NM_001242906.1:c.351C>G, XM_047441538.1:c.741C>T, XM_047441538.1:c.741C>G, XM_047441542.1:c.582C>T, XM_047441542.1:c.582C>G, XM_047441539.1:c.579C>T, XM_047441539.1:c.579C>G, NM_001369931.1:c.237C>T, NM_001369931.1:c.237C>G, XM_047441540.1:c.579C>T, XM_047441540.1:c.579C>G, NM_001369921.1:c.579C>T, NM_001369921.1:c.579C>G, NM_001369935.1:c.237C>T, NM_001369935.1:c.237C>G, NM_001369948.1:c.-252C>T, NM_001369948.1:c.-252C>G, NM_001369922.1:c.579C>T, NM_001369922.1:c.579C>G, NM_001369932.1:c.237C>T, NM_001369932.1:c.237C>G, NM_001369923.1:c.579C>T, NM_001369923.1:c.579C>G, XM_047441544.1:c.579C>T, XM_047441544.1:c.579C>G, NM_001369946.1:c.-130C>T, NM_001369946.1:c.-130C>G, XM_047441546.1:c.579C>T, XM_047441546.1:c.579C>G, NM_001369940.1:c.237C>T, NM_001369940.1:c.237C>G, NM_001369945.1:c.-252C>T, NM_001369945.1:c.-252C>G, NM_001369920.1:c.579C>T, NM_001369920.1:c.579C>G, NM_001369938.1:c.237C>T, NM_001369938.1:c.237C>G, NM_001369924.1:c.579C>T, NM_001369924.1:c.579C>G, XM_047441543.1:c.579C>T, XM_047441543.1:c.579C>G, NM_001369928.1:c.420C>T, NM_001369928.1:c.420C>G, NM_001369933.1:c.237C>T, NM_001369933.1:c.237C>G, XM_047441547.1:c.420C>T, XM_047441547.1:c.420C>G, XM_047441541.1:c.579C>T, XM_047441541.1:c.579C>G, XM_047441545.1:c.579C>T, XM_047441545.1:c.579C>G, NM_001369926.1:c.420C>T, NM_001369926.1:c.420C>G, NM_001369934.1:c.237C>T, NM_001369934.1:c.237C>G, NM_001369941.1:c.237C>T, NM_001369941.1:c.237C>G, NM_001369949.1:c.-252C>T, NM_001369949.1:c.-252C>G, NM_001369925.1:c.420C>T, NM_001369925.1:c.420C>G, NM_001369927.1:c.420C>T, NM_001369927.1:c.420C>G, NM_001369939.1:c.237C>T, NM_001369939.1:c.237C>G, NM_001369929.1:c.420C>T, NM_001369929.1:c.420C>G, XM_047441548.1:c.237C>T, XM_047441548.1:c.237C>G, NM_001369937.1:c.237C>T, NM_001369937.1:c.237C>G, NM_001369943.1:c.-130C>T, NM_001369943.1:c.-130C>G, NM_001369930.1:c.420C>T, NM_001369930.1:c.420C>G, NM_001369936.1:c.237C>T, NM_001369936.1:c.237C>G, NM_001369950.1:c.-252C>T, NM_001369950.1:c.-252C>G, NM_001369947.1:c.-130C>T, NM_001369947.1:c.-130C>G, NM_001369942.1:c.45C>T, NM_001369942.1:c.45C>G, NM_001369944.1:c.-130C>T, NM_001369944.1:c.-130C>G, NP_115580.2:p.Asp193Glu, XP_011528744.1:p.Asp193Glu, XP_011528746.1:p.Asp193Glu, XP_011528745.1:p.Asp193Glu, XP_011528747.1:p.Asp193Glu, XP_011528755.1:p.Asp79Glu, XP_011528756.1:p.Asp79Glu, XP_011528750.1:p.Asp140Glu, XP_011528757.1:p.Asp79Glu, XP_024308055.1:p.Asp247Glu, XP_024308056.1:p.Asp247Glu, XP_024308057.1:p.Asp247Glu, XP_024308058.1:p.Asp194Glu, XP_024308059.1:p.Asp194Glu, NP_001229835.1:p.Asp117Glu, XP_047297494.1:p.Asp247Glu, XP_047297498.1:p.Asp194Glu, XP_047297495.1:p.Asp193Glu, NP_001356860.1:p.Asp79Glu, XP_047297496.1:p.Asp193Glu, NP_001356850.1:p.Asp193Glu, NP_001356864.1:p.Asp79Glu, NP_001356851.1:p.Asp193Glu, NP_001356861.1:p.Asp79Glu, NP_001356852.1:p.Asp193Glu, XP_047297500.1:p.Asp193Glu, XP_047297502.1:p.Asp193Glu, NP_001356869.1:p.Asp79Glu, NP_001356849.1:p.Asp193Glu, NP_001356867.1:p.Asp79Glu, NP_001356853.1:p.Asp193Glu, XP_047297499.1:p.Asp193Glu, NP_001356857.1:p.Asp140Glu, NP_001356862.1:p.Asp79Glu, XP_047297503.1:p.Asp140Glu, XP_047297497.1:p.Asp193Glu, XP_047297501.1:p.Asp193Glu, NP_001356855.1:p.Asp140Glu, NP_001356863.1:p.Asp79Glu, NP_001356870.1:p.Asp79Glu, NP_001356854.1:p.Asp140Glu, NP_001356856.1:p.Asp140Glu, NP_001356868.1:p.Asp79Glu, NP_001356858.1:p.Asp140Glu, XP_047297504.1:p.Asp79Glu, NP_001356866.1:p.Asp79Glu, NP_001356859.1:p.Asp140Glu, NP_001356865.1:p.Asp79Glu, NP_001356871.1:p.Asp15Glu

                              15.

                              rs1463404430 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:29822432 (GRCh38)
                                22:30218421 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:29822431:T:C
                                Gene:
                                ASCC2 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.29822432T>C, NC_000022.10:g.30218421T>C, NM_032204.5:c.444A>G, NM_032204.4:c.444A>G, XM_011530442.4:c.444A>G, XM_011530442.3:c.444A>G, XM_011530442.2:c.444A>G, XM_011530442.1:c.444A>G, XM_011530444.3:c.444A>G, XM_011530444.2:c.444A>G, XM_011530444.1:c.444A>G, XM_011530443.3:c.444A>G, XM_011530443.2:c.444A>G, XM_011530443.1:c.444A>G, XM_011530445.3:c.444A>G, XM_011530445.2:c.444A>G, XM_011530445.1:c.444A>G, XM_011530453.3:c.102A>G, XM_011530453.2:c.102A>G, XM_011530453.1:c.102A>G, XM_011530454.3:c.102A>G, XM_011530454.2:c.102A>G, XM_011530454.1:c.102A>G, XM_011530448.3:c.285A>G, XM_011530448.2:c.285A>G, XM_011530448.1:c.285A>G, XM_011530455.3:c.102A>G, XM_011530455.2:c.102A>G, XM_011530455.1:c.102A>G, XM_024452287.2:c.606A>G, XM_024452287.1:c.606A>G, XM_024452288.2:c.606A>G, XM_024452288.1:c.606A>G, XM_024452289.2:c.606A>G, XM_024452289.1:c.606A>G, XM_024452290.2:c.447A>G, XM_024452290.1:c.447A>G, XM_024452291.2:c.447A>G, XM_024452291.1:c.447A>G, XM_047441538.1:c.606A>G, XM_047441542.1:c.447A>G, XM_047441539.1:c.444A>G, NM_001369931.1:c.102A>G, XM_047441540.1:c.444A>G, NM_001369921.1:c.444A>G, NM_001369935.1:c.102A>G, NM_001369948.1:c.-387A>G, NM_001369922.1:c.444A>G, NM_001369932.1:c.102A>G, NM_001369923.1:c.444A>G, XM_047441544.1:c.444A>G, XM_047441546.1:c.444A>G, NM_001369940.1:c.102A>G, NM_001369945.1:c.-387A>G, NM_001369920.1:c.444A>G, NM_001369938.1:c.102A>G, NM_001369924.1:c.444A>G, XM_047441543.1:c.444A>G, NM_001369928.1:c.285A>G, NM_001369933.1:c.102A>G, XM_047441547.1:c.285A>G, XM_047441541.1:c.444A>G, XM_047441545.1:c.444A>G, NM_001369926.1:c.285A>G, NM_001369934.1:c.102A>G, NM_001369941.1:c.102A>G, NM_001369949.1:c.-387A>G, NM_001369925.1:c.285A>G, NM_001369927.1:c.285A>G, NM_001369939.1:c.102A>G, NM_001369929.1:c.285A>G, XM_047441548.1:c.102A>G, NM_001369937.1:c.102A>G, NM_001369930.1:c.285A>G, NM_001369936.1:c.102A>G, NM_001369942.1:c.-91A>G

                                16.

                                rs1462059522 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:29790489 (GRCh38)
                                  22:30186478 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:29790488:C:T
                                  Gene:
                                  ASCC2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.29790489C>T, NC_000022.10:g.30186478C>T, NM_032204.5:c.2082G>A, NM_032204.4:c.2082G>A, XM_011530442.4:c.2097G>A, XM_011530442.3:c.2097G>A, XM_011530442.2:c.2097G>A, XM_011530442.1:c.2097G>A, XM_011530444.3:c.2097G>A, XM_011530444.2:c.2097G>A, XM_011530444.1:c.2097G>A, XM_011530443.3:c.2097G>A, XM_011530443.2:c.2097G>A, XM_011530443.1:c.2097G>A, XM_011530445.3:c.2097G>A, XM_011530445.2:c.2097G>A, XM_011530445.1:c.2097G>A, XM_011530453.3:c.1755G>A, XM_011530453.2:c.1755G>A, XM_011530453.1:c.1755G>A, XM_011530454.3:c.1755G>A, XM_011530454.2:c.1755G>A, XM_011530454.1:c.1755G>A, XM_011530448.3:c.1938G>A, XM_011530448.2:c.1938G>A, XM_011530448.1:c.1938G>A, XM_011530455.3:c.1755G>A, XM_011530455.2:c.1755G>A, XM_011530455.1:c.1755G>A, XM_024452287.2:c.2259G>A, XM_024452287.1:c.2259G>A, XM_024452288.2:c.2184G>A, XM_024452288.1:c.2184G>A, XM_024452289.2:c.2169G>A, XM_024452289.1:c.2169G>A, XM_024452290.2:c.2100G>A, XM_024452290.1:c.2100G>A, XM_024452291.2:c.2085G>A, XM_024452291.1:c.2085G>A, NM_001242906.2:c.1854G>A, NM_001242906.1:c.1854G>A, XM_047441538.1:c.2244G>A, XM_047441542.1:c.2010G>A, XM_047441539.1:c.2097G>A, NM_001369931.1:c.1740G>A, XM_047441540.1:c.2082G>A, NM_001369921.1:c.2082G>A, NM_001369935.1:c.1740G>A, NM_001369948.1:c.1374G>A, NM_001369922.1:c.2082G>A, NM_001369932.1:c.1740G>A, NM_001369923.1:c.2082G>A, XM_047441544.1:c.2007G>A, NM_001369946.1:c.1374G>A, XM_047441546.1:c.2007G>A, NM_001369940.1:c.1740G>A, NM_001369945.1:c.1374G>A, NM_001369920.1:c.2097G>A, NM_001369938.1:c.1740G>A, NM_001369924.1:c.2070G>A, XM_047441543.1:c.2007G>A, NM_001369928.1:c.1923G>A, NM_001369933.1:c.1740G>A, XM_047441547.1:c.1923G>A, XM_047441541.1:c.2022G>A, XM_047441545.1:c.2007G>A, NM_001369926.1:c.1923G>A, NM_001369934.1:c.1740G>A, NM_001369941.1:c.1728G>A, NM_001369949.1:c.1374G>A, NM_001369925.1:c.1938G>A, NM_001369927.1:c.1923G>A, NM_001369939.1:c.1740G>A, NM_001369929.1:c.1911G>A, XM_047441548.1:c.1665G>A, NM_001369937.1:c.1740G>A, NM_001369943.1:c.1374G>A, NM_001369930.1:c.1848G>A, NM_001369936.1:c.1740G>A, NM_001369950.1:c.1368G>A, NM_001369947.1:c.1374G>A, NM_001369942.1:c.1548G>A, NM_001369944.1:c.1374G>A, NP_115580.2:p.Met694Ile, XP_011528744.1:p.Met699Ile, XP_011528746.1:p.Met699Ile, XP_011528745.1:p.Met699Ile, XP_011528747.1:p.Met699Ile, XP_011528755.1:p.Met585Ile, XP_011528756.1:p.Met585Ile, XP_011528750.1:p.Met646Ile, XP_011528757.1:p.Met585Ile, XP_024308055.1:p.Met753Ile, XP_024308056.1:p.Met728Ile, XP_024308057.1:p.Met723Ile, XP_024308058.1:p.Met700Ile, XP_024308059.1:p.Met695Ile, NP_001229835.1:p.Met618Ile, XP_047297494.1:p.Met748Ile, XP_047297498.1:p.Met670Ile, XP_047297495.1:p.Met699Ile, NP_001356860.1:p.Met580Ile, XP_047297496.1:p.Met694Ile, NP_001356850.1:p.Met694Ile, NP_001356864.1:p.Met580Ile, NP_001356877.1:p.Met458Ile, NP_001356851.1:p.Met694Ile, NP_001356861.1:p.Met580Ile, NP_001356852.1:p.Met694Ile, XP_047297500.1:p.Met669Ile, NP_001356875.1:p.Met458Ile, XP_047297502.1:p.Met669Ile, NP_001356869.1:p.Met580Ile, NP_001356874.1:p.Met458Ile, NP_001356849.1:p.Met699Ile, NP_001356867.1:p.Met580Ile, NP_001356853.1:p.Met690Ile, XP_047297499.1:p.Met669Ile, NP_001356857.1:p.Met641Ile, NP_001356862.1:p.Met580Ile, XP_047297503.1:p.Met641Ile, XP_047297497.1:p.Met674Ile, XP_047297501.1:p.Met669Ile, NP_001356855.1:p.Met641Ile, NP_001356863.1:p.Met580Ile, NP_001356870.1:p.Met576Ile, NP_001356878.1:p.Met458Ile, NP_001356854.1:p.Met646Ile, NP_001356856.1:p.Met641Ile, NP_001356868.1:p.Met580Ile, NP_001356858.1:p.Met637Ile, XP_047297504.1:p.Met555Ile, NP_001356866.1:p.Met580Ile, NP_001356872.1:p.Met458Ile, NP_001356859.1:p.Met616Ile, NP_001356865.1:p.Met580Ile, NP_001356879.1:p.Met456Ile, NP_001356876.1:p.Met458Ile, NP_001356871.1:p.Met516Ile, NP_001356873.1:p.Met458Ile

                                  17.

                                  rs1457982297 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:29802184 (GRCh38)
                                    22:30198173 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:29802183:C:T
                                    Gene:
                                    ASCC2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.29802184C>T, NC_000022.10:g.30198173C>T, NM_032204.5:c.1378G>A, NM_032204.4:c.1378G>A, XM_011530442.4:c.1378G>A, XM_011530442.3:c.1378G>A, XM_011530442.2:c.1378G>A, XM_011530442.1:c.1378G>A, XM_011530444.3:c.1378G>A, XM_011530444.2:c.1378G>A, XM_011530444.1:c.1378G>A, XM_011530443.3:c.1378G>A, XM_011530443.2:c.1378G>A, XM_011530443.1:c.1378G>A, XM_011530445.3:c.1378G>A, XM_011530445.2:c.1378G>A, XM_011530445.1:c.1378G>A, XM_011530453.3:c.1036G>A, XM_011530453.2:c.1036G>A, XM_011530453.1:c.1036G>A, XM_011530454.3:c.1036G>A, XM_011530454.2:c.1036G>A, XM_011530454.1:c.1036G>A, XM_011530448.3:c.1219G>A, XM_011530448.2:c.1219G>A, XM_011530448.1:c.1219G>A, XM_011530455.3:c.1036G>A, XM_011530455.2:c.1036G>A, XM_011530455.1:c.1036G>A, XM_024452287.2:c.1540G>A, XM_024452287.1:c.1540G>A, XM_024452288.2:c.1465G>A, XM_024452288.1:c.1465G>A, XM_024452289.2:c.1465G>A, XM_024452289.1:c.1465G>A, XM_024452290.2:c.1381G>A, XM_024452290.1:c.1381G>A, XM_024452291.2:c.1381G>A, XM_024452291.1:c.1381G>A, NM_001242906.2:c.1150G>A, NM_001242906.1:c.1150G>A, XM_047441538.1:c.1540G>A, XM_047441542.1:c.1306G>A, XM_047441539.1:c.1378G>A, NM_001369931.1:c.1036G>A, XM_047441540.1:c.1378G>A, NM_001369921.1:c.1378G>A, NM_001369935.1:c.1036G>A, NM_001369948.1:c.670G>A, NM_001369922.1:c.1378G>A, NM_001369932.1:c.1036G>A, NM_001369923.1:c.1378G>A, XM_047441544.1:c.1303G>A, NM_001369946.1:c.670G>A, XM_047441546.1:c.1303G>A, NM_001369940.1:c.1036G>A, NM_001369945.1:c.670G>A, NM_001369920.1:c.1378G>A, NM_001369938.1:c.1036G>A, NM_001369924.1:c.1378G>A, XM_047441543.1:c.1303G>A, NM_001369928.1:c.1219G>A, NM_001369933.1:c.1036G>A, XM_047441547.1:c.1219G>A, XM_047441541.1:c.1303G>A, XM_047441545.1:c.1303G>A, NM_001369926.1:c.1219G>A, NM_001369934.1:c.1036G>A, NM_001369941.1:c.1036G>A, NM_001369949.1:c.670G>A, NM_001369925.1:c.1219G>A, NM_001369927.1:c.1219G>A, NM_001369939.1:c.1036G>A, NM_001369929.1:c.1219G>A, XM_047441548.1:c.961G>A, NM_001369937.1:c.1036G>A, NM_001369943.1:c.670G>A, NM_001369930.1:c.1144G>A, NM_001369936.1:c.1036G>A, NM_001369950.1:c.670G>A, NM_001369947.1:c.670G>A, NM_001369942.1:c.844G>A, NM_001369944.1:c.670G>A, NP_115580.2:p.Gly460Ser, XP_011528744.1:p.Gly460Ser, XP_011528746.1:p.Gly460Ser, XP_011528745.1:p.Gly460Ser, XP_011528747.1:p.Gly460Ser, XP_011528755.1:p.Gly346Ser, XP_011528756.1:p.Gly346Ser, XP_011528750.1:p.Gly407Ser, XP_011528757.1:p.Gly346Ser, XP_024308055.1:p.Gly514Ser, XP_024308056.1:p.Gly489Ser, XP_024308057.1:p.Gly489Ser, XP_024308058.1:p.Gly461Ser, XP_024308059.1:p.Gly461Ser, NP_001229835.1:p.Gly384Ser, XP_047297494.1:p.Gly514Ser, XP_047297498.1:p.Gly436Ser, XP_047297495.1:p.Gly460Ser, NP_001356860.1:p.Gly346Ser, XP_047297496.1:p.Gly460Ser, NP_001356850.1:p.Gly460Ser, NP_001356864.1:p.Gly346Ser, NP_001356877.1:p.Gly224Ser, NP_001356851.1:p.Gly460Ser, NP_001356861.1:p.Gly346Ser, NP_001356852.1:p.Gly460Ser, XP_047297500.1:p.Gly435Ser, NP_001356875.1:p.Gly224Ser, XP_047297502.1:p.Gly435Ser, NP_001356869.1:p.Gly346Ser, NP_001356874.1:p.Gly224Ser, NP_001356849.1:p.Gly460Ser, NP_001356867.1:p.Gly346Ser, NP_001356853.1:p.Gly460Ser, XP_047297499.1:p.Gly435Ser, NP_001356857.1:p.Gly407Ser, NP_001356862.1:p.Gly346Ser, XP_047297503.1:p.Gly407Ser, XP_047297497.1:p.Gly435Ser, XP_047297501.1:p.Gly435Ser, NP_001356855.1:p.Gly407Ser, NP_001356863.1:p.Gly346Ser, NP_001356870.1:p.Gly346Ser, NP_001356878.1:p.Gly224Ser, NP_001356854.1:p.Gly407Ser, NP_001356856.1:p.Gly407Ser, NP_001356868.1:p.Gly346Ser, NP_001356858.1:p.Gly407Ser, XP_047297504.1:p.Gly321Ser, NP_001356866.1:p.Gly346Ser, NP_001356872.1:p.Gly224Ser, NP_001356859.1:p.Gly382Ser, NP_001356865.1:p.Gly346Ser, NP_001356879.1:p.Gly224Ser, NP_001356876.1:p.Gly224Ser, NP_001356871.1:p.Gly282Ser, NP_001356873.1:p.Gly224Ser

                                    18.

                                    rs1452969989 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      22:29802133 (GRCh38)
                                      22:30198122 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:29802132:C:G
                                      Gene:
                                      ASCC2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.29802133C>G, NC_000022.10:g.30198122C>G, NM_032204.5:c.1429G>C, NM_032204.4:c.1429G>C, XM_011530442.4:c.1429G>C, XM_011530442.3:c.1429G>C, XM_011530442.2:c.1429G>C, XM_011530442.1:c.1429G>C, XM_011530444.3:c.1429G>C, XM_011530444.2:c.1429G>C, XM_011530444.1:c.1429G>C, XM_011530443.3:c.1429G>C, XM_011530443.2:c.1429G>C, XM_011530443.1:c.1429G>C, XM_011530445.3:c.1429G>C, XM_011530445.2:c.1429G>C, XM_011530445.1:c.1429G>C, XM_011530453.3:c.1087G>C, XM_011530453.2:c.1087G>C, XM_011530453.1:c.1087G>C, XM_011530454.3:c.1087G>C, XM_011530454.2:c.1087G>C, XM_011530454.1:c.1087G>C, XM_011530448.3:c.1270G>C, XM_011530448.2:c.1270G>C, XM_011530448.1:c.1270G>C, XM_011530455.3:c.1087G>C, XM_011530455.2:c.1087G>C, XM_011530455.1:c.1087G>C, XM_024452287.2:c.1591G>C, XM_024452287.1:c.1591G>C, XM_024452288.2:c.1516G>C, XM_024452288.1:c.1516G>C, XM_024452289.2:c.1516G>C, XM_024452289.1:c.1516G>C, XM_024452290.2:c.1432G>C, XM_024452290.1:c.1432G>C, XM_024452291.2:c.1432G>C, XM_024452291.1:c.1432G>C, NM_001242906.2:c.1201G>C, NM_001242906.1:c.1201G>C, XM_047441538.1:c.1591G>C, XM_047441542.1:c.1357G>C, XM_047441539.1:c.1429G>C, NM_001369931.1:c.1087G>C, XM_047441540.1:c.1429G>C, NM_001369921.1:c.1429G>C, NM_001369935.1:c.1087G>C, NM_001369948.1:c.721G>C, NM_001369922.1:c.1429G>C, NM_001369932.1:c.1087G>C, NM_001369923.1:c.1429G>C, XM_047441544.1:c.1354G>C, NM_001369946.1:c.721G>C, XM_047441546.1:c.1354G>C, NM_001369940.1:c.1087G>C, NM_001369945.1:c.721G>C, NM_001369920.1:c.1429G>C, NM_001369938.1:c.1087G>C, NM_001369924.1:c.1429G>C, XM_047441543.1:c.1354G>C, NM_001369928.1:c.1270G>C, NM_001369933.1:c.1087G>C, XM_047441547.1:c.1270G>C, XM_047441541.1:c.1354G>C, XM_047441545.1:c.1354G>C, NM_001369926.1:c.1270G>C, NM_001369934.1:c.1087G>C, NM_001369941.1:c.1087G>C, NM_001369949.1:c.721G>C, NM_001369925.1:c.1270G>C, NM_001369927.1:c.1270G>C, NM_001369939.1:c.1087G>C, NM_001369929.1:c.1270G>C, XM_047441548.1:c.1012G>C, NM_001369937.1:c.1087G>C, NM_001369943.1:c.721G>C, NM_001369930.1:c.1195G>C, NM_001369936.1:c.1087G>C, NM_001369950.1:c.721G>C, NM_001369947.1:c.721G>C, NM_001369942.1:c.895G>C, NM_001369944.1:c.721G>C, NP_115580.2:p.Asp477His, XP_011528744.1:p.Asp477His, XP_011528746.1:p.Asp477His, XP_011528745.1:p.Asp477His, XP_011528747.1:p.Asp477His, XP_011528755.1:p.Asp363His, XP_011528756.1:p.Asp363His, XP_011528750.1:p.Asp424His, XP_011528757.1:p.Asp363His, XP_024308055.1:p.Asp531His, XP_024308056.1:p.Asp506His, XP_024308057.1:p.Asp506His, XP_024308058.1:p.Asp478His, XP_024308059.1:p.Asp478His, NP_001229835.1:p.Asp401His, XP_047297494.1:p.Asp531His, XP_047297498.1:p.Asp453His, XP_047297495.1:p.Asp477His, NP_001356860.1:p.Asp363His, XP_047297496.1:p.Asp477His, NP_001356850.1:p.Asp477His, NP_001356864.1:p.Asp363His, NP_001356877.1:p.Asp241His, NP_001356851.1:p.Asp477His, NP_001356861.1:p.Asp363His, NP_001356852.1:p.Asp477His, XP_047297500.1:p.Asp452His, NP_001356875.1:p.Asp241His, XP_047297502.1:p.Asp452His, NP_001356869.1:p.Asp363His, NP_001356874.1:p.Asp241His, NP_001356849.1:p.Asp477His, NP_001356867.1:p.Asp363His, NP_001356853.1:p.Asp477His, XP_047297499.1:p.Asp452His, NP_001356857.1:p.Asp424His, NP_001356862.1:p.Asp363His, XP_047297503.1:p.Asp424His, XP_047297497.1:p.Asp452His, XP_047297501.1:p.Asp452His, NP_001356855.1:p.Asp424His, NP_001356863.1:p.Asp363His, NP_001356870.1:p.Asp363His, NP_001356878.1:p.Asp241His, NP_001356854.1:p.Asp424His, NP_001356856.1:p.Asp424His, NP_001356868.1:p.Asp363His, NP_001356858.1:p.Asp424His, XP_047297504.1:p.Asp338His, NP_001356866.1:p.Asp363His, NP_001356872.1:p.Asp241His, NP_001356859.1:p.Asp399His, NP_001356865.1:p.Asp363His, NP_001356879.1:p.Asp241His, NP_001356876.1:p.Asp241His, NP_001356871.1:p.Asp299His, NP_001356873.1:p.Asp241His

                                      19.

                                      rs1451469175 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        22:29801001 (GRCh38)
                                        22:30196990 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:29801000:T:C
                                        Gene:
                                        ASCC2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.29801001T>C, NC_000022.10:g.30196990T>C, NM_032204.5:c.1678A>G, NM_032204.4:c.1678A>G, XM_011530442.4:c.1678A>G, XM_011530442.3:c.1678A>G, XM_011530442.2:c.1678A>G, XM_011530442.1:c.1678A>G, XM_011530444.3:c.1678A>G, XM_011530444.2:c.1678A>G, XM_011530444.1:c.1678A>G, XM_011530443.3:c.1678A>G, XM_011530443.2:c.1678A>G, XM_011530443.1:c.1678A>G, XM_011530445.3:c.1678A>G, XM_011530445.2:c.1678A>G, XM_011530445.1:c.1678A>G, XM_011530453.3:c.1336A>G, XM_011530453.2:c.1336A>G, XM_011530453.1:c.1336A>G, XM_011530454.3:c.1336A>G, XM_011530454.2:c.1336A>G, XM_011530454.1:c.1336A>G, XM_011530448.3:c.1519A>G, XM_011530448.2:c.1519A>G, XM_011530448.1:c.1519A>G, XM_011530455.3:c.1336A>G, XM_011530455.2:c.1336A>G, XM_011530455.1:c.1336A>G, XM_024452287.2:c.1840A>G, XM_024452287.1:c.1840A>G, XM_024452288.2:c.1765A>G, XM_024452288.1:c.1765A>G, XM_024452289.2:c.1765A>G, XM_024452289.1:c.1765A>G, XM_024452290.2:c.1681A>G, XM_024452290.1:c.1681A>G, XM_024452291.2:c.1681A>G, XM_024452291.1:c.1681A>G, NM_001242906.2:c.1450A>G, NM_001242906.1:c.1450A>G, XM_047441538.1:c.1840A>G, XM_047441542.1:c.1606A>G, XM_047441539.1:c.1678A>G, NM_001369931.1:c.1336A>G, XM_047441540.1:c.1678A>G, NM_001369921.1:c.1678A>G, NM_001369935.1:c.1336A>G, NM_001369948.1:c.970A>G, NM_001369922.1:c.1678A>G, NM_001369932.1:c.1336A>G, NM_001369923.1:c.1678A>G, XM_047441544.1:c.1603A>G, NM_001369946.1:c.970A>G, XM_047441546.1:c.1603A>G, NM_001369940.1:c.1336A>G, NM_001369945.1:c.970A>G, NM_001369920.1:c.1678A>G, NM_001369938.1:c.1336A>G, NM_001369924.1:c.1678A>G, XM_047441543.1:c.1603A>G, NM_001369928.1:c.1519A>G, NM_001369933.1:c.1336A>G, XM_047441547.1:c.1519A>G, XM_047441541.1:c.1603A>G, XM_047441545.1:c.1603A>G, NM_001369926.1:c.1519A>G, NM_001369934.1:c.1336A>G, NM_001369941.1:c.1336A>G, NM_001369949.1:c.970A>G, NM_001369925.1:c.1519A>G, NM_001369927.1:c.1519A>G, NM_001369939.1:c.1336A>G, NM_001369929.1:c.1519A>G, XM_047441548.1:c.1261A>G, NM_001369937.1:c.1336A>G, NM_001369943.1:c.970A>G, NM_001369930.1:c.1444A>G, NM_001369936.1:c.1336A>G, NM_001369950.1:c.970A>G, NM_001369947.1:c.970A>G, NM_001369942.1:c.1144A>G, NM_001369944.1:c.970A>G, NP_115580.2:p.Lys560Glu, XP_011528744.1:p.Lys560Glu, XP_011528746.1:p.Lys560Glu, XP_011528745.1:p.Lys560Glu, XP_011528747.1:p.Lys560Glu, XP_011528755.1:p.Lys446Glu, XP_011528756.1:p.Lys446Glu, XP_011528750.1:p.Lys507Glu, XP_011528757.1:p.Lys446Glu, XP_024308055.1:p.Lys614Glu, XP_024308056.1:p.Lys589Glu, XP_024308057.1:p.Lys589Glu, XP_024308058.1:p.Lys561Glu, XP_024308059.1:p.Lys561Glu, NP_001229835.1:p.Lys484Glu, XP_047297494.1:p.Lys614Glu, XP_047297498.1:p.Lys536Glu, XP_047297495.1:p.Lys560Glu, NP_001356860.1:p.Lys446Glu, XP_047297496.1:p.Lys560Glu, NP_001356850.1:p.Lys560Glu, NP_001356864.1:p.Lys446Glu, NP_001356877.1:p.Lys324Glu, NP_001356851.1:p.Lys560Glu, NP_001356861.1:p.Lys446Glu, NP_001356852.1:p.Lys560Glu, XP_047297500.1:p.Lys535Glu, NP_001356875.1:p.Lys324Glu, XP_047297502.1:p.Lys535Glu, NP_001356869.1:p.Lys446Glu, NP_001356874.1:p.Lys324Glu, NP_001356849.1:p.Lys560Glu, NP_001356867.1:p.Lys446Glu, NP_001356853.1:p.Lys560Glu, XP_047297499.1:p.Lys535Glu, NP_001356857.1:p.Lys507Glu, NP_001356862.1:p.Lys446Glu, XP_047297503.1:p.Lys507Glu, XP_047297497.1:p.Lys535Glu, XP_047297501.1:p.Lys535Glu, NP_001356855.1:p.Lys507Glu, NP_001356863.1:p.Lys446Glu, NP_001356870.1:p.Lys446Glu, NP_001356878.1:p.Lys324Glu, NP_001356854.1:p.Lys507Glu, NP_001356856.1:p.Lys507Glu, NP_001356868.1:p.Lys446Glu, NP_001356858.1:p.Lys507Glu, XP_047297504.1:p.Lys421Glu, NP_001356866.1:p.Lys446Glu, NP_001356872.1:p.Lys324Glu, NP_001356859.1:p.Lys482Glu, NP_001356865.1:p.Lys446Glu, NP_001356879.1:p.Lys324Glu, NP_001356876.1:p.Lys324Glu, NP_001356871.1:p.Lys382Glu, NP_001356873.1:p.Lys324Glu

                                        20.

                                        rs1450458158 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:29793463 (GRCh38)
                                          22:30189452 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:29793462:G:A
                                          Gene:
                                          ASCC2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_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_000022.11:g.29793463G>A, NC_000022.10:g.30189452G>A, NM_032204.5:c.1816C>T, NM_032204.4:c.1816C>T, XM_011530442.4:c.1816C>T, XM_011530442.3:c.1816C>T, XM_011530442.2:c.1816C>T, XM_011530442.1:c.1816C>T, XM_011530444.3:c.1816C>T, XM_011530444.2:c.1816C>T, XM_011530444.1:c.1816C>T, XM_011530443.3:c.1816C>T, XM_011530443.2:c.1816C>T, XM_011530443.1:c.1816C>T, XM_011530445.3:c.1816C>T, XM_011530445.2:c.1816C>T, XM_011530445.1:c.1816C>T, XM_011530453.3:c.1474C>T, XM_011530453.2:c.1474C>T, XM_011530453.1:c.1474C>T, XM_011530454.3:c.1474C>T, XM_011530454.2:c.1474C>T, XM_011530454.1:c.1474C>T, XM_011530448.3:c.1657C>T, XM_011530448.2:c.1657C>T, XM_011530448.1:c.1657C>T, XM_011530455.3:c.1474C>T, XM_011530455.2:c.1474C>T, XM_011530455.1:c.1474C>T, XM_024452287.2:c.1978C>T, XM_024452287.1:c.1978C>T, XM_024452288.2:c.1903C>T, XM_024452288.1:c.1903C>T, XM_024452289.2:c.1903C>T, XM_024452289.1:c.1903C>T, XM_024452290.2:c.1819C>T, XM_024452290.1:c.1819C>T, XM_024452291.2:c.1819C>T, XM_024452291.1:c.1819C>T, NM_001242906.2:c.1588C>T, NM_001242906.1:c.1588C>T, XM_047441538.1:c.1978C>T, XM_047441542.1:c.1744C>T, XM_047441539.1:c.1816C>T, NM_001369931.1:c.1474C>T, XM_047441540.1:c.1816C>T, NM_001369921.1:c.1816C>T, NM_001369935.1:c.1474C>T, NM_001369948.1:c.1108C>T, NM_001369922.1:c.1816C>T, NM_001369932.1:c.1474C>T, NM_001369923.1:c.1816C>T, XM_047441544.1:c.1741C>T, NM_001369946.1:c.1108C>T, XM_047441546.1:c.1741C>T, NM_001369940.1:c.1474C>T, NM_001369945.1:c.1108C>T, NM_001369920.1:c.1816C>T, NM_001369938.1:c.1474C>T, NM_001369924.1:c.1804C>T, XM_047441543.1:c.1741C>T, NM_001369928.1:c.1657C>T, NM_001369933.1:c.1474C>T, XM_047441547.1:c.1657C>T, XM_047441541.1:c.1741C>T, XM_047441545.1:c.1741C>T, NM_001369926.1:c.1657C>T, NM_001369934.1:c.1474C>T, NM_001369941.1:c.1462C>T, NM_001369949.1:c.1108C>T, NM_001369925.1:c.1657C>T, NM_001369927.1:c.1657C>T, NM_001369939.1:c.1474C>T, NM_001369929.1:c.1645C>T, XM_047441548.1:c.1399C>T, NM_001369937.1:c.1474C>T, NM_001369943.1:c.1108C>T, NM_001369930.1:c.1582C>T, NM_001369936.1:c.1474C>T, NM_001369950.1:c.1102C>T, NM_001369947.1:c.1108C>T, NM_001369942.1:c.1282C>T, NM_001369944.1:c.1108C>T, NP_115580.2:p.Pro606Ser, XP_011528744.1:p.Pro606Ser, XP_011528746.1:p.Pro606Ser, XP_011528745.1:p.Pro606Ser, XP_011528747.1:p.Pro606Ser, XP_011528755.1:p.Pro492Ser, XP_011528756.1:p.Pro492Ser, XP_011528750.1:p.Pro553Ser, XP_011528757.1:p.Pro492Ser, XP_024308055.1:p.Pro660Ser, XP_024308056.1:p.Pro635Ser, XP_024308057.1:p.Pro635Ser, XP_024308058.1:p.Pro607Ser, XP_024308059.1:p.Pro607Ser, NP_001229835.1:p.Pro530Ser, XP_047297494.1:p.Pro660Ser, XP_047297498.1:p.Pro582Ser, XP_047297495.1:p.Pro606Ser, NP_001356860.1:p.Pro492Ser, XP_047297496.1:p.Pro606Ser, NP_001356850.1:p.Pro606Ser, NP_001356864.1:p.Pro492Ser, NP_001356877.1:p.Pro370Ser, NP_001356851.1:p.Pro606Ser, NP_001356861.1:p.Pro492Ser, NP_001356852.1:p.Pro606Ser, XP_047297500.1:p.Pro581Ser, NP_001356875.1:p.Pro370Ser, XP_047297502.1:p.Pro581Ser, NP_001356869.1:p.Pro492Ser, NP_001356874.1:p.Pro370Ser, NP_001356849.1:p.Pro606Ser, NP_001356867.1:p.Pro492Ser, NP_001356853.1:p.Pro602Ser, XP_047297499.1:p.Pro581Ser, NP_001356857.1:p.Pro553Ser, NP_001356862.1:p.Pro492Ser, XP_047297503.1:p.Pro553Ser, XP_047297497.1:p.Pro581Ser, XP_047297501.1:p.Pro581Ser, NP_001356855.1:p.Pro553Ser, NP_001356863.1:p.Pro492Ser, NP_001356870.1:p.Pro488Ser, NP_001356878.1:p.Pro370Ser, NP_001356854.1:p.Pro553Ser, NP_001356856.1:p.Pro553Ser, NP_001356868.1:p.Pro492Ser, NP_001356858.1:p.Pro549Ser, XP_047297504.1:p.Pro467Ser, NP_001356866.1:p.Pro492Ser, NP_001356872.1:p.Pro370Ser, NP_001356859.1:p.Pro528Ser, NP_001356865.1:p.Pro492Ser, NP_001356879.1:p.Pro368Ser, NP_001356876.1:p.Pro370Ser, NP_001356871.1:p.Pro428Ser, NP_001356873.1:p.Pro370Ser

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