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Items: 1 to 20 of 3357

1.

rs1490726940 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    5:112842085 (GRCh38)
    5:112177782 (GRCh37)
    Canonical SPDI:
    NC_000005.10:112842084:G:A,NC_000005.10:112842084:G:C
    Gene:
    APC (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000023/6 (TOPMED)
    HGVS:
    NC_000005.10:g.112842085G>A, NC_000005.10:g.112842085G>C, NC_000005.9:g.112177782G>A, NC_000005.9:g.112177782G>C, NG_008481.4:g.154565G>A, NG_008481.4:g.154565G>C, NM_000038.6:c.6491G>A, NM_000038.6:c.6491G>C, NM_000038.5:c.6491G>A, NM_000038.5:c.6491G>C, NM_001127510.3:c.6491G>A, NM_001127510.3:c.6491G>C, NM_001127510.2:c.6491G>A, NM_001127510.2:c.6491G>C, NM_001127511.3:c.6437G>A, NM_001127511.3:c.6437G>C, NM_001127511.2:c.6437G>A, NM_001127511.2:c.6437G>C, NM_001354895.2:c.6491G>A, NM_001354895.2:c.6491G>C, NM_001354895.1:c.6491G>A, NM_001354895.1:c.6491G>C, NM_001354897.2:c.6521G>A, NM_001354897.2:c.6521G>C, NM_001354897.1:c.6521G>A, NM_001354897.1:c.6521G>C, NM_001354906.2:c.5642G>A, NM_001354906.2:c.5642G>C, NM_001354906.1:c.5642G>A, NM_001354906.1:c.5642G>C, NM_001354896.2:c.6545G>A, NM_001354896.2:c.6545G>C, NM_001354896.1:c.6545G>A, NM_001354896.1:c.6545G>C, NM_001354898.2:c.6416G>A, NM_001354898.2:c.6416G>C, NM_001354898.1:c.6416G>A, NM_001354898.1:c.6416G>C, NM_001354899.2:c.6407G>A, NM_001354899.2:c.6407G>C, NM_001354899.1:c.6407G>A, NM_001354899.1:c.6407G>C, NM_001354900.2:c.6368G>A, NM_001354900.2:c.6368G>C, NM_001354900.1:c.6368G>A, NM_001354900.1:c.6368G>C, NM_001354902.2:c.6218G>A, NM_001354902.2:c.6218G>C, NM_001354902.1:c.6218G>A, NM_001354902.1:c.6218G>C, NM_001354901.2:c.6314G>A, NM_001354901.2:c.6314G>C, NM_001354901.1:c.6314G>A, NM_001354901.1:c.6314G>C, NM_001354903.2:c.6188G>A, NM_001354903.2:c.6188G>C, NM_001354903.1:c.6188G>A, NM_001354903.1:c.6188G>C, NM_001354904.2:c.6113G>A, NM_001354904.2:c.6113G>C, NM_001354904.1:c.6113G>A, NM_001354904.1:c.6113G>C, NM_001354905.2:c.6011G>A, NM_001354905.2:c.6011G>C, NM_001354905.1:c.6011G>A, NM_001354905.1:c.6011G>C, NM_001407470.1:c.5642G>A, NM_001407470.1:c.5642G>C, NM_001407447.1:c.6545G>A, NM_001407447.1:c.6545G>C, NM_001407452.1:c.6461G>A, NM_001407452.1:c.6461G>C, NM_001407446.1:c.6575G>A, NM_001407446.1:c.6575G>C, NM_001407472.1:c.5339G>A, NM_001407472.1:c.5339G>C, NR_176366.1:n.6745G>A, NR_176366.1:n.6745G>C, NM_001407448.1:c.6545G>A, NM_001407448.1:c.6545G>C, NM_001407449.1:c.6545G>A, NM_001407449.1:c.6545G>C, NM_001407450.1:c.6491G>A, NM_001407450.1:c.6491G>C, NM_001407456.1:c.6242G>A, NM_001407456.1:c.6242G>C, NM_001407460.1:c.6188G>A, NM_001407460.1:c.6188G>C, NM_001407451.1:c.6470G>A, NM_001407451.1:c.6470G>C, NM_001407453.1:c.6314G>A, NM_001407453.1:c.6314G>C, NM_001407469.1:c.6104G>A, NM_001407469.1:c.6104G>C, NM_001407471.1:c.5339G>A, NM_001407471.1:c.5339G>C, NM_001407457.1:c.6242G>A, NM_001407457.1:c.6242G>C, NM_001407455.1:c.6242G>A, NM_001407455.1:c.6242G>C, NM_001407458.1:c.6188G>A, NM_001407458.1:c.6188G>C, NM_001407459.1:c.6188G>A, NM_001407459.1:c.6188G>C, NR_176365.1:n.6326G>A, NR_176365.1:n.6326G>C, NM_001407454.1:c.6242G>A, NM_001407454.1:c.6242G>C, NM_001407467.1:c.6104G>A, NM_001407467.1:c.6104G>C, NP_000029.2:p.Gly2164Asp, NP_000029.2:p.Gly2164Ala, NP_001120982.1:p.Gly2164Asp, NP_001120982.1:p.Gly2164Ala, NP_001120983.2:p.Gly2146Asp, NP_001120983.2:p.Gly2146Ala, NP_001341824.1:p.Gly2164Asp, NP_001341824.1:p.Gly2164Ala, NP_001341826.1:p.Gly2174Asp, NP_001341826.1:p.Gly2174Ala, NP_001341835.1:p.Gly1881Asp, NP_001341835.1:p.Gly1881Ala, NP_001341825.1:p.Gly2182Asp, NP_001341825.1:p.Gly2182Ala, NP_001341827.1:p.Gly2139Asp, NP_001341827.1:p.Gly2139Ala, NP_001341828.1:p.Gly2136Asp, NP_001341828.1:p.Gly2136Ala, NP_001341829.1:p.Gly2123Asp, NP_001341829.1:p.Gly2123Ala, NP_001341831.1:p.Gly2073Asp, NP_001341831.1:p.Gly2073Ala, NP_001341830.1:p.Gly2105Asp, NP_001341830.1:p.Gly2105Ala, NP_001341832.1:p.Gly2063Asp, NP_001341832.1:p.Gly2063Ala, NP_001341833.1:p.Gly2038Asp, NP_001341833.1:p.Gly2038Ala, NP_001341834.1:p.Gly2004Asp, NP_001341834.1:p.Gly2004Ala

    2.

    rs1490335623 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      5:112837808 (GRCh38)
      5:112173505 (GRCh37)
      Canonical SPDI:
      NC_000005.10:112837807:G:A,NC_000005.10:112837807:G:C,NC_000005.10:112837807:G:T
      Gene:
      APC (Varview)
      Functional Consequence:
      synonymous_variant,missense_variant,coding_sequence_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.112837808G>A, NC_000005.10:g.112837808G>C, NC_000005.10:g.112837808G>T, NC_000005.9:g.112173505G>A, NC_000005.9:g.112173505G>C, NC_000005.9:g.112173505G>T, NG_008481.4:g.150288G>A, NG_008481.4:g.150288G>C, NG_008481.4:g.150288G>T, NM_000038.6:c.2214G>A, NM_000038.6:c.2214G>C, NM_000038.6:c.2214G>T, NM_000038.5:c.2214G>A, NM_000038.5:c.2214G>C, NM_000038.5:c.2214G>T, NM_001127510.3:c.2214G>A, NM_001127510.3:c.2214G>C, NM_001127510.3:c.2214G>T, NM_001127510.2:c.2214G>A, NM_001127510.2:c.2214G>C, NM_001127510.2:c.2214G>T, NM_001127511.3:c.2160G>A, NM_001127511.3:c.2160G>C, NM_001127511.3:c.2160G>T, NM_001127511.2:c.2160G>A, NM_001127511.2:c.2160G>C, NM_001127511.2:c.2160G>T, NM_001354895.2:c.2214G>A, NM_001354895.2:c.2214G>C, NM_001354895.2:c.2214G>T, NM_001354895.1:c.2214G>A, NM_001354895.1:c.2214G>C, NM_001354895.1:c.2214G>T, NM_001354897.2:c.2244G>A, NM_001354897.2:c.2244G>C, NM_001354897.2:c.2244G>T, NM_001354897.1:c.2244G>A, NM_001354897.1:c.2244G>C, NM_001354897.1:c.2244G>T, NM_001354906.2:c.1365G>A, NM_001354906.2:c.1365G>C, NM_001354906.2:c.1365G>T, NM_001354906.1:c.1365G>A, NM_001354906.1:c.1365G>C, NM_001354906.1:c.1365G>T, NM_001354896.2:c.2268G>A, NM_001354896.2:c.2268G>C, NM_001354896.2:c.2268G>T, NM_001354896.1:c.2268G>A, NM_001354896.1:c.2268G>C, NM_001354896.1:c.2268G>T, NM_001354898.2:c.2139G>A, NM_001354898.2:c.2139G>C, NM_001354898.2:c.2139G>T, NM_001354898.1:c.2139G>A, NM_001354898.1:c.2139G>C, NM_001354898.1:c.2139G>T, NM_001354899.2:c.2130G>A, NM_001354899.2:c.2130G>C, NM_001354899.2:c.2130G>T, NM_001354899.1:c.2130G>A, NM_001354899.1:c.2130G>C, NM_001354899.1:c.2130G>T, NM_001354900.2:c.2091G>A, NM_001354900.2:c.2091G>C, NM_001354900.2:c.2091G>T, NM_001354900.1:c.2091G>A, NM_001354900.1:c.2091G>C, NM_001354900.1:c.2091G>T, NM_001354902.2:c.1941G>A, NM_001354902.2:c.1941G>C, NM_001354902.2:c.1941G>T, NM_001354902.1:c.1941G>A, NM_001354902.1:c.1941G>C, NM_001354902.1:c.1941G>T, NM_001354901.2:c.2037G>A, NM_001354901.2:c.2037G>C, NM_001354901.2:c.2037G>T, NM_001354901.1:c.2037G>A, NM_001354901.1:c.2037G>C, NM_001354901.1:c.2037G>T, NM_001354903.2:c.1911G>A, NM_001354903.2:c.1911G>C, NM_001354903.2:c.1911G>T, NM_001354903.1:c.1911G>A, NM_001354903.1:c.1911G>C, NM_001354903.1:c.1911G>T, NM_001354904.2:c.1836G>A, NM_001354904.2:c.1836G>C, NM_001354904.2:c.1836G>T, NM_001354904.1:c.1836G>A, NM_001354904.1:c.1836G>C, NM_001354904.1:c.1836G>T, NM_001354905.2:c.1734G>A, NM_001354905.2:c.1734G>C, NM_001354905.2:c.1734G>T, NM_001354905.1:c.1734G>A, NM_001354905.1:c.1734G>C, NM_001354905.1:c.1734G>T, NM_001407470.1:c.1365G>A, NM_001407470.1:c.1365G>C, NM_001407470.1:c.1365G>T, NM_001407447.1:c.2268G>A, NM_001407447.1:c.2268G>C, NM_001407447.1:c.2268G>T, NM_001407452.1:c.2184G>A, NM_001407452.1:c.2184G>C, NM_001407452.1:c.2184G>T, NM_001407446.1:c.2298G>A, NM_001407446.1:c.2298G>C, NM_001407446.1:c.2298G>T, NM_001407472.1:c.1062G>A, NM_001407472.1:c.1062G>C, NM_001407472.1:c.1062G>T, NR_176366.1:n.2468G>A, NR_176366.1:n.2468G>C, NR_176366.1:n.2468G>T, NM_001407448.1:c.2268G>A, NM_001407448.1:c.2268G>C, NM_001407448.1:c.2268G>T, NM_001407449.1:c.2268G>A, NM_001407449.1:c.2268G>C, NM_001407449.1:c.2268G>T, NM_001407450.1:c.2214G>A, NM_001407450.1:c.2214G>C, NM_001407450.1:c.2214G>T, NM_001407456.1:c.1965G>A, NM_001407456.1:c.1965G>C, NM_001407456.1:c.1965G>T, NM_001407460.1:c.1911G>A, NM_001407460.1:c.1911G>C, NM_001407460.1:c.1911G>T, NM_001407451.1:c.2193G>A, NM_001407451.1:c.2193G>C, NM_001407451.1:c.2193G>T, NM_001407453.1:c.2037G>A, NM_001407453.1:c.2037G>C, NM_001407453.1:c.2037G>T, NM_001407469.1:c.1827G>A, NM_001407469.1:c.1827G>C, NM_001407469.1:c.1827G>T, NM_001407471.1:c.1062G>A, NM_001407471.1:c.1062G>C, NM_001407471.1:c.1062G>T, NM_001407457.1:c.1965G>A, NM_001407457.1:c.1965G>C, NM_001407457.1:c.1965G>T, NM_001407455.1:c.1965G>A, NM_001407455.1:c.1965G>C, NM_001407455.1:c.1965G>T, NM_001407458.1:c.1911G>A, NM_001407458.1:c.1911G>C, NM_001407458.1:c.1911G>T, NM_001407459.1:c.1911G>A, NM_001407459.1:c.1911G>C, NM_001407459.1:c.1911G>T, NR_176365.1:n.2049G>A, NR_176365.1:n.2049G>C, NR_176365.1:n.2049G>T, NM_001407454.1:c.1965G>A, NM_001407454.1:c.1965G>C, NM_001407454.1:c.1965G>T, NM_001407467.1:c.1827G>A, NM_001407467.1:c.1827G>C, NM_001407467.1:c.1827G>T, NP_000029.2:p.Lys738Asn, NP_000029.2:p.Lys738Asn, NP_001120982.1:p.Lys738Asn, NP_001120982.1:p.Lys738Asn, NP_001120983.2:p.Lys720Asn, NP_001120983.2:p.Lys720Asn, NP_001341824.1:p.Lys738Asn, NP_001341824.1:p.Lys738Asn, NP_001341826.1:p.Lys748Asn, NP_001341826.1:p.Lys748Asn, NP_001341835.1:p.Lys455Asn, NP_001341835.1:p.Lys455Asn, NP_001341825.1:p.Lys756Asn, NP_001341825.1:p.Lys756Asn, NP_001341827.1:p.Lys713Asn, NP_001341827.1:p.Lys713Asn, NP_001341828.1:p.Lys710Asn, NP_001341828.1:p.Lys710Asn, NP_001341829.1:p.Lys697Asn, NP_001341829.1:p.Lys697Asn, NP_001341831.1:p.Lys647Asn, NP_001341831.1:p.Lys647Asn, NP_001341830.1:p.Lys679Asn, NP_001341830.1:p.Lys679Asn, NP_001341832.1:p.Lys637Asn, NP_001341832.1:p.Lys637Asn, NP_001341833.1:p.Lys612Asn, NP_001341833.1:p.Lys612Asn, NP_001341834.1:p.Lys578Asn, NP_001341834.1:p.Lys578Asn

      3.

      rs1490241563 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        5:112840975 (GRCh38)
        5:112176672 (GRCh37)
        Canonical SPDI:
        NC_000005.10:112840974:A:G,NC_000005.10:112840974:A:T
        Gene:
        APC (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000005.10:g.112840975A>G, NC_000005.10:g.112840975A>T, NC_000005.9:g.112176672A>G, NC_000005.9:g.112176672A>T, NG_008481.4:g.153455A>G, NG_008481.4:g.153455A>T, NM_000038.6:c.5381A>G, NM_000038.6:c.5381A>T, NM_000038.5:c.5381A>G, NM_000038.5:c.5381A>T, NM_001127510.3:c.5381A>G, NM_001127510.3:c.5381A>T, NM_001127510.2:c.5381A>G, NM_001127510.2:c.5381A>T, NM_001127511.3:c.5327A>G, NM_001127511.3:c.5327A>T, NM_001127511.2:c.5327A>G, NM_001127511.2:c.5327A>T, NM_001354895.2:c.5381A>G, NM_001354895.2:c.5381A>T, NM_001354895.1:c.5381A>G, NM_001354895.1:c.5381A>T, NM_001354897.2:c.5411A>G, NM_001354897.2:c.5411A>T, NM_001354897.1:c.5411A>G, NM_001354897.1:c.5411A>T, NM_001354906.2:c.4532A>G, NM_001354906.2:c.4532A>T, NM_001354906.1:c.4532A>G, NM_001354906.1:c.4532A>T, NM_001354896.2:c.5435A>G, NM_001354896.2:c.5435A>T, NM_001354896.1:c.5435A>G, NM_001354896.1:c.5435A>T, NM_001354898.2:c.5306A>G, NM_001354898.2:c.5306A>T, NM_001354898.1:c.5306A>G, NM_001354898.1:c.5306A>T, NM_001354899.2:c.5297A>G, NM_001354899.2:c.5297A>T, NM_001354899.1:c.5297A>G, NM_001354899.1:c.5297A>T, NM_001354900.2:c.5258A>G, NM_001354900.2:c.5258A>T, NM_001354900.1:c.5258A>G, NM_001354900.1:c.5258A>T, NM_001354902.2:c.5108A>G, NM_001354902.2:c.5108A>T, NM_001354902.1:c.5108A>G, NM_001354902.1:c.5108A>T, NM_001354901.2:c.5204A>G, NM_001354901.2:c.5204A>T, NM_001354901.1:c.5204A>G, NM_001354901.1:c.5204A>T, NM_001354903.2:c.5078A>G, NM_001354903.2:c.5078A>T, NM_001354903.1:c.5078A>G, NM_001354903.1:c.5078A>T, NM_001354904.2:c.5003A>G, NM_001354904.2:c.5003A>T, NM_001354904.1:c.5003A>G, NM_001354904.1:c.5003A>T, NM_001354905.2:c.4901A>G, NM_001354905.2:c.4901A>T, NM_001354905.1:c.4901A>G, NM_001354905.1:c.4901A>T, NM_001407470.1:c.4532A>G, NM_001407470.1:c.4532A>T, NM_001407447.1:c.5435A>G, NM_001407447.1:c.5435A>T, NM_001407452.1:c.5351A>G, NM_001407452.1:c.5351A>T, NM_001407446.1:c.5465A>G, NM_001407446.1:c.5465A>T, NM_001407472.1:c.4229A>G, NM_001407472.1:c.4229A>T, NR_176366.1:n.5635A>G, NR_176366.1:n.5635A>T, NM_001407448.1:c.5435A>G, NM_001407448.1:c.5435A>T, NM_001407449.1:c.5435A>G, NM_001407449.1:c.5435A>T, NM_001407450.1:c.5381A>G, NM_001407450.1:c.5381A>T, NM_001407456.1:c.5132A>G, NM_001407456.1:c.5132A>T, NM_001407460.1:c.5078A>G, NM_001407460.1:c.5078A>T, NM_001407451.1:c.5360A>G, NM_001407451.1:c.5360A>T, NM_001407453.1:c.5204A>G, NM_001407453.1:c.5204A>T, NM_001407469.1:c.4994A>G, NM_001407469.1:c.4994A>T, NM_001407471.1:c.4229A>G, NM_001407471.1:c.4229A>T, NM_001407457.1:c.5132A>G, NM_001407457.1:c.5132A>T, NM_001407455.1:c.5132A>G, NM_001407455.1:c.5132A>T, NM_001407458.1:c.5078A>G, NM_001407458.1:c.5078A>T, NM_001407459.1:c.5078A>G, NM_001407459.1:c.5078A>T, NR_176365.1:n.5216A>G, NR_176365.1:n.5216A>T, NM_001407454.1:c.5132A>G, NM_001407454.1:c.5132A>T, NM_001407467.1:c.4994A>G, NM_001407467.1:c.4994A>T, NP_000029.2:p.Asp1794Gly, NP_000029.2:p.Asp1794Val, NP_001120982.1:p.Asp1794Gly, NP_001120982.1:p.Asp1794Val, NP_001120983.2:p.Asp1776Gly, NP_001120983.2:p.Asp1776Val, NP_001341824.1:p.Asp1794Gly, NP_001341824.1:p.Asp1794Val, NP_001341826.1:p.Asp1804Gly, NP_001341826.1:p.Asp1804Val, NP_001341835.1:p.Asp1511Gly, NP_001341835.1:p.Asp1511Val, NP_001341825.1:p.Asp1812Gly, NP_001341825.1:p.Asp1812Val, NP_001341827.1:p.Asp1769Gly, NP_001341827.1:p.Asp1769Val, NP_001341828.1:p.Asp1766Gly, NP_001341828.1:p.Asp1766Val, NP_001341829.1:p.Asp1753Gly, NP_001341829.1:p.Asp1753Val, NP_001341831.1:p.Asp1703Gly, NP_001341831.1:p.Asp1703Val, NP_001341830.1:p.Asp1735Gly, NP_001341830.1:p.Asp1735Val, NP_001341832.1:p.Asp1693Gly, NP_001341832.1:p.Asp1693Val, NP_001341833.1:p.Asp1668Gly, NP_001341833.1:p.Asp1668Val, NP_001341834.1:p.Asp1634Gly, NP_001341834.1:p.Asp1634Val

        4.

        rs1489688452 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          5:112842943 (GRCh38)
          5:112178640 (GRCh37)
          Canonical SPDI:
          NC_000005.10:112842942:C:A,NC_000005.10:112842942:C:G,NC_000005.10:112842942:C:T
          Gene:
          APC (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000005.10:g.112842943C>A, NC_000005.10:g.112842943C>G, NC_000005.10:g.112842943C>T, NC_000005.9:g.112178640C>A, NC_000005.9:g.112178640C>G, NC_000005.9:g.112178640C>T, NG_008481.4:g.155423C>A, NG_008481.4:g.155423C>G, NG_008481.4:g.155423C>T, NM_000038.6:c.7349C>A, NM_000038.6:c.7349C>G, NM_000038.6:c.7349C>T, NM_000038.5:c.7349C>A, NM_000038.5:c.7349C>G, NM_000038.5:c.7349C>T, NM_001127510.3:c.7349C>A, NM_001127510.3:c.7349C>G, NM_001127510.3:c.7349C>T, NM_001127510.2:c.7349C>A, NM_001127510.2:c.7349C>G, NM_001127510.2:c.7349C>T, NM_001127511.3:c.7295C>A, NM_001127511.3:c.7295C>G, NM_001127511.3:c.7295C>T, NM_001127511.2:c.7295C>A, NM_001127511.2:c.7295C>G, NM_001127511.2:c.7295C>T, NM_001354895.2:c.7349C>A, NM_001354895.2:c.7349C>G, NM_001354895.2:c.7349C>T, NM_001354895.1:c.7349C>A, NM_001354895.1:c.7349C>G, NM_001354895.1:c.7349C>T, NM_001354897.2:c.7379C>A, NM_001354897.2:c.7379C>G, NM_001354897.2:c.7379C>T, NM_001354897.1:c.7379C>A, NM_001354897.1:c.7379C>G, NM_001354897.1:c.7379C>T, NM_001354906.2:c.6500C>A, NM_001354906.2:c.6500C>G, NM_001354906.2:c.6500C>T, NM_001354906.1:c.6500C>A, NM_001354906.1:c.6500C>G, NM_001354906.1:c.6500C>T, NM_001354896.2:c.7403C>A, NM_001354896.2:c.7403C>G, NM_001354896.2:c.7403C>T, NM_001354896.1:c.7403C>A, NM_001354896.1:c.7403C>G, NM_001354896.1:c.7403C>T, NM_001354898.2:c.7274C>A, NM_001354898.2:c.7274C>G, NM_001354898.2:c.7274C>T, NM_001354898.1:c.7274C>A, NM_001354898.1:c.7274C>G, NM_001354898.1:c.7274C>T, NM_001354899.2:c.7265C>A, NM_001354899.2:c.7265C>G, NM_001354899.2:c.7265C>T, NM_001354899.1:c.7265C>A, NM_001354899.1:c.7265C>G, NM_001354899.1:c.7265C>T, NM_001354900.2:c.7226C>A, NM_001354900.2:c.7226C>G, NM_001354900.2:c.7226C>T, NM_001354900.1:c.7226C>A, NM_001354900.1:c.7226C>G, NM_001354900.1:c.7226C>T, NM_001354902.2:c.7076C>A, NM_001354902.2:c.7076C>G, NM_001354902.2:c.7076C>T, NM_001354902.1:c.7076C>A, NM_001354902.1:c.7076C>G, NM_001354902.1:c.7076C>T, NM_001354901.2:c.7172C>A, NM_001354901.2:c.7172C>G, NM_001354901.2:c.7172C>T, NM_001354901.1:c.7172C>A, NM_001354901.1:c.7172C>G, NM_001354901.1:c.7172C>T, NM_001354903.2:c.7046C>A, NM_001354903.2:c.7046C>G, NM_001354903.2:c.7046C>T, NM_001354903.1:c.7046C>A, NM_001354903.1:c.7046C>G, NM_001354903.1:c.7046C>T, NM_001354904.2:c.6971C>A, NM_001354904.2:c.6971C>G, NM_001354904.2:c.6971C>T, NM_001354904.1:c.6971C>A, NM_001354904.1:c.6971C>G, NM_001354904.1:c.6971C>T, NM_001354905.2:c.6869C>A, NM_001354905.2:c.6869C>G, NM_001354905.2:c.6869C>T, NM_001354905.1:c.6869C>A, NM_001354905.1:c.6869C>G, NM_001354905.1:c.6869C>T, NM_001407470.1:c.6500C>A, NM_001407470.1:c.6500C>G, NM_001407470.1:c.6500C>T, NM_001407447.1:c.7403C>A, NM_001407447.1:c.7403C>G, NM_001407447.1:c.7403C>T, NM_001407452.1:c.7319C>A, NM_001407452.1:c.7319C>G, NM_001407452.1:c.7319C>T, NM_001407446.1:c.7433C>A, NM_001407446.1:c.7433C>G, NM_001407446.1:c.7433C>T, NM_001407472.1:c.6197C>A, NM_001407472.1:c.6197C>G, NM_001407472.1:c.6197C>T, NR_176366.1:n.7603C>A, NR_176366.1:n.7603C>G, NR_176366.1:n.7603C>T, NM_001407448.1:c.7403C>A, NM_001407448.1:c.7403C>G, NM_001407448.1:c.7403C>T, NM_001407449.1:c.7403C>A, NM_001407449.1:c.7403C>G, NM_001407449.1:c.7403C>T, NM_001407450.1:c.7349C>A, NM_001407450.1:c.7349C>G, NM_001407450.1:c.7349C>T, NM_001407456.1:c.7100C>A, NM_001407456.1:c.7100C>G, NM_001407456.1:c.7100C>T, NM_001407460.1:c.7046C>A, NM_001407460.1:c.7046C>G, NM_001407460.1:c.7046C>T, NM_001407451.1:c.7328C>A, NM_001407451.1:c.7328C>G, NM_001407451.1:c.7328C>T, NM_001407453.1:c.7172C>A, NM_001407453.1:c.7172C>G, NM_001407453.1:c.7172C>T, NM_001407469.1:c.6962C>A, NM_001407469.1:c.6962C>G, NM_001407469.1:c.6962C>T, NM_001407471.1:c.6197C>A, NM_001407471.1:c.6197C>G, NM_001407471.1:c.6197C>T, NM_001407457.1:c.7100C>A, NM_001407457.1:c.7100C>G, NM_001407457.1:c.7100C>T, NM_001407455.1:c.7100C>A, NM_001407455.1:c.7100C>G, NM_001407455.1:c.7100C>T, NM_001407458.1:c.7046C>A, NM_001407458.1:c.7046C>G, NM_001407458.1:c.7046C>T, NM_001407459.1:c.7046C>A, NM_001407459.1:c.7046C>G, NM_001407459.1:c.7046C>T, NR_176365.1:n.7184C>A, NR_176365.1:n.7184C>G, NR_176365.1:n.7184C>T, NM_001407454.1:c.7100C>A, NM_001407454.1:c.7100C>G, NM_001407454.1:c.7100C>T, NM_001407467.1:c.6962C>A, NM_001407467.1:c.6962C>G, NM_001407467.1:c.6962C>T, NP_000029.2:p.Pro2450Gln, NP_000029.2:p.Pro2450Arg, NP_000029.2:p.Pro2450Leu, NP_001120982.1:p.Pro2450Gln, NP_001120982.1:p.Pro2450Arg, NP_001120982.1:p.Pro2450Leu, NP_001120983.2:p.Pro2432Gln, NP_001120983.2:p.Pro2432Arg, NP_001120983.2:p.Pro2432Leu, NP_001341824.1:p.Pro2450Gln, NP_001341824.1:p.Pro2450Arg, NP_001341824.1:p.Pro2450Leu, NP_001341826.1:p.Pro2460Gln, NP_001341826.1:p.Pro2460Arg, NP_001341826.1:p.Pro2460Leu, NP_001341835.1:p.Pro2167Gln, NP_001341835.1:p.Pro2167Arg, NP_001341835.1:p.Pro2167Leu, NP_001341825.1:p.Pro2468Gln, NP_001341825.1:p.Pro2468Arg, NP_001341825.1:p.Pro2468Leu, NP_001341827.1:p.Pro2425Gln, NP_001341827.1:p.Pro2425Arg, NP_001341827.1:p.Pro2425Leu, NP_001341828.1:p.Pro2422Gln, NP_001341828.1:p.Pro2422Arg, NP_001341828.1:p.Pro2422Leu, NP_001341829.1:p.Pro2409Gln, NP_001341829.1:p.Pro2409Arg, NP_001341829.1:p.Pro2409Leu, NP_001341831.1:p.Pro2359Gln, NP_001341831.1:p.Pro2359Arg, NP_001341831.1:p.Pro2359Leu, NP_001341830.1:p.Pro2391Gln, NP_001341830.1:p.Pro2391Arg, NP_001341830.1:p.Pro2391Leu, NP_001341832.1:p.Pro2349Gln, NP_001341832.1:p.Pro2349Arg, NP_001341832.1:p.Pro2349Leu, NP_001341833.1:p.Pro2324Gln, NP_001341833.1:p.Pro2324Arg, NP_001341833.1:p.Pro2324Leu, NP_001341834.1:p.Pro2290Gln, NP_001341834.1:p.Pro2290Arg, NP_001341834.1:p.Pro2290Leu

          5.

          rs1489637060 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            5:112843727 (GRCh38)
            5:112179424 (GRCh37)
            Canonical SPDI:
            NC_000005.10:112843726:T:C
            Gene:
            APC (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.112843727T>C, NC_000005.9:g.112179424T>C, NG_008481.4:g.156207T>C, NM_000038.6:c.8133T>C, NM_000038.5:c.8133T>C, NM_001127510.3:c.8133T>C, NM_001127510.2:c.8133T>C, NM_001127511.3:c.8079T>C, NM_001127511.2:c.8079T>C, NM_001354895.2:c.8133T>C, NM_001354895.1:c.8133T>C, NM_001354897.2:c.8163T>C, NM_001354897.1:c.8163T>C, NM_001354906.2:c.7284T>C, NM_001354906.1:c.7284T>C, NM_001354896.2:c.8187T>C, NM_001354896.1:c.8187T>C, NM_001354898.2:c.8058T>C, NM_001354898.1:c.8058T>C, NM_001354899.2:c.8049T>C, NM_001354899.1:c.8049T>C, NM_001354900.2:c.8010T>C, NM_001354900.1:c.8010T>C, NM_001354902.2:c.7860T>C, NM_001354902.1:c.7860T>C, NM_001354901.2:c.7956T>C, NM_001354901.1:c.7956T>C, NM_001354903.2:c.7830T>C, NM_001354903.1:c.7830T>C, NM_001354904.2:c.7755T>C, NM_001354904.1:c.7755T>C, NM_001354905.2:c.7653T>C, NM_001354905.1:c.7653T>C, NM_001407470.1:c.7284T>C, NM_001407447.1:c.8187T>C, NM_001407452.1:c.8103T>C, NM_001407446.1:c.8217T>C, NM_001407472.1:c.6981T>C, NR_176366.1:n.8387T>C, NM_001407448.1:c.8187T>C, NM_001407449.1:c.8187T>C, NM_001407450.1:c.8133T>C, NM_001407456.1:c.7884T>C, NM_001407460.1:c.7830T>C, NM_001407451.1:c.8112T>C, NM_001407453.1:c.7956T>C, NM_001407469.1:c.7746T>C, NM_001407471.1:c.6981T>C, NM_001407457.1:c.7884T>C, NM_001407455.1:c.7884T>C, NM_001407458.1:c.7830T>C, NM_001407459.1:c.7830T>C, NR_176365.1:n.7968T>C, NM_001407454.1:c.7884T>C, NM_001407467.1:c.7746T>C

            6.

            rs1489564235 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              5:112840646 (GRCh38)
              5:112176343 (GRCh37)
              Canonical SPDI:
              NC_000005.10:112840645:T:A,NC_000005.10:112840645:T:C
              Gene:
              APC (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000005.10:g.112840646T>A, NC_000005.10:g.112840646T>C, NC_000005.9:g.112176343T>A, NC_000005.9:g.112176343T>C, NG_008481.4:g.153126T>A, NG_008481.4:g.153126T>C, NM_000038.6:c.5052T>A, NM_000038.6:c.5052T>C, NM_000038.5:c.5052T>A, NM_000038.5:c.5052T>C, NM_001127510.3:c.5052T>A, NM_001127510.3:c.5052T>C, NM_001127510.2:c.5052T>A, NM_001127510.2:c.5052T>C, NM_001127511.3:c.4998T>A, NM_001127511.3:c.4998T>C, NM_001127511.2:c.4998T>A, NM_001127511.2:c.4998T>C, NM_001354895.2:c.5052T>A, NM_001354895.2:c.5052T>C, NM_001354895.1:c.5052T>A, NM_001354895.1:c.5052T>C, NM_001354897.2:c.5082T>A, NM_001354897.2:c.5082T>C, NM_001354897.1:c.5082T>A, NM_001354897.1:c.5082T>C, NM_001354906.2:c.4203T>A, NM_001354906.2:c.4203T>C, NM_001354906.1:c.4203T>A, NM_001354906.1:c.4203T>C, NM_001354896.2:c.5106T>A, NM_001354896.2:c.5106T>C, NM_001354896.1:c.5106T>A, NM_001354896.1:c.5106T>C, NM_001354898.2:c.4977T>A, NM_001354898.2:c.4977T>C, NM_001354898.1:c.4977T>A, NM_001354898.1:c.4977T>C, NM_001354899.2:c.4968T>A, NM_001354899.2:c.4968T>C, NM_001354899.1:c.4968T>A, NM_001354899.1:c.4968T>C, NM_001354900.2:c.4929T>A, NM_001354900.2:c.4929T>C, NM_001354900.1:c.4929T>A, NM_001354900.1:c.4929T>C, NM_001354902.2:c.4779T>A, NM_001354902.2:c.4779T>C, NM_001354902.1:c.4779T>A, NM_001354902.1:c.4779T>C, NM_001354901.2:c.4875T>A, NM_001354901.2:c.4875T>C, NM_001354901.1:c.4875T>A, NM_001354901.1:c.4875T>C, NM_001354903.2:c.4749T>A, NM_001354903.2:c.4749T>C, NM_001354903.1:c.4749T>A, NM_001354903.1:c.4749T>C, NM_001354904.2:c.4674T>A, NM_001354904.2:c.4674T>C, NM_001354904.1:c.4674T>A, NM_001354904.1:c.4674T>C, NM_001354905.2:c.4572T>A, NM_001354905.2:c.4572T>C, NM_001354905.1:c.4572T>A, NM_001354905.1:c.4572T>C, NM_001407470.1:c.4203T>A, NM_001407470.1:c.4203T>C, NM_001407447.1:c.5106T>A, NM_001407447.1:c.5106T>C, NM_001407452.1:c.5022T>A, NM_001407452.1:c.5022T>C, NM_001407446.1:c.5136T>A, NM_001407446.1:c.5136T>C, NM_001407472.1:c.3900T>A, NM_001407472.1:c.3900T>C, NR_176366.1:n.5306T>A, NR_176366.1:n.5306T>C, NM_001407448.1:c.5106T>A, NM_001407448.1:c.5106T>C, NM_001407449.1:c.5106T>A, NM_001407449.1:c.5106T>C, NM_001407450.1:c.5052T>A, NM_001407450.1:c.5052T>C, NM_001407456.1:c.4803T>A, NM_001407456.1:c.4803T>C, NM_001407460.1:c.4749T>A, NM_001407460.1:c.4749T>C, NM_001407451.1:c.5031T>A, NM_001407451.1:c.5031T>C, NM_001407453.1:c.4875T>A, NM_001407453.1:c.4875T>C, NM_001407469.1:c.4665T>A, NM_001407469.1:c.4665T>C, NM_001407471.1:c.3900T>A, NM_001407471.1:c.3900T>C, NM_001407457.1:c.4803T>A, NM_001407457.1:c.4803T>C, NM_001407455.1:c.4803T>A, NM_001407455.1:c.4803T>C, NM_001407458.1:c.4749T>A, NM_001407458.1:c.4749T>C, NM_001407459.1:c.4749T>A, NM_001407459.1:c.4749T>C, NR_176365.1:n.4887T>A, NR_176365.1:n.4887T>C, NM_001407454.1:c.4803T>A, NM_001407454.1:c.4803T>C, NM_001407467.1:c.4665T>A, NM_001407467.1:c.4665T>C, NP_000029.2:p.Phe1684Leu, NP_001120982.1:p.Phe1684Leu, NP_001120983.2:p.Phe1666Leu, NP_001341824.1:p.Phe1684Leu, NP_001341826.1:p.Phe1694Leu, NP_001341835.1:p.Phe1401Leu, NP_001341825.1:p.Phe1702Leu, NP_001341827.1:p.Phe1659Leu, NP_001341828.1:p.Phe1656Leu, NP_001341829.1:p.Phe1643Leu, NP_001341831.1:p.Phe1593Leu, NP_001341830.1:p.Phe1625Leu, NP_001341832.1:p.Phe1583Leu, NP_001341833.1:p.Phe1558Leu, NP_001341834.1:p.Phe1524Leu

              7.

              rs1489528719 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                5:112840108 (GRCh38)
                5:112175805 (GRCh37)
                Canonical SPDI:
                NC_000005.10:112840107:G:A,NC_000005.10:112840107:G:C,NC_000005.10:112840107:G:T
                Gene:
                APC (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000005.10:g.112840108G>A, NC_000005.10:g.112840108G>C, NC_000005.10:g.112840108G>T, NC_000005.9:g.112175805G>A, NC_000005.9:g.112175805G>C, NC_000005.9:g.112175805G>T, NG_008481.4:g.152588G>A, NG_008481.4:g.152588G>C, NG_008481.4:g.152588G>T, NM_000038.6:c.4514G>A, NM_000038.6:c.4514G>C, NM_000038.6:c.4514G>T, NM_000038.5:c.4514G>A, NM_000038.5:c.4514G>C, NM_000038.5:c.4514G>T, NM_001127510.3:c.4514G>A, NM_001127510.3:c.4514G>C, NM_001127510.3:c.4514G>T, NM_001127510.2:c.4514G>A, NM_001127510.2:c.4514G>C, NM_001127510.2:c.4514G>T, NM_001127511.3:c.4460G>A, NM_001127511.3:c.4460G>C, NM_001127511.3:c.4460G>T, NM_001127511.2:c.4460G>A, NM_001127511.2:c.4460G>C, NM_001127511.2:c.4460G>T, NM_001354895.2:c.4514G>A, NM_001354895.2:c.4514G>C, NM_001354895.2:c.4514G>T, NM_001354895.1:c.4514G>A, NM_001354895.1:c.4514G>C, NM_001354895.1:c.4514G>T, NM_001354897.2:c.4544G>A, NM_001354897.2:c.4544G>C, NM_001354897.2:c.4544G>T, NM_001354897.1:c.4544G>A, NM_001354897.1:c.4544G>C, NM_001354897.1:c.4544G>T, NM_001354906.2:c.3665G>A, NM_001354906.2:c.3665G>C, NM_001354906.2:c.3665G>T, NM_001354906.1:c.3665G>A, NM_001354906.1:c.3665G>C, NM_001354906.1:c.3665G>T, NM_001354896.2:c.4568G>A, NM_001354896.2:c.4568G>C, NM_001354896.2:c.4568G>T, NM_001354896.1:c.4568G>A, NM_001354896.1:c.4568G>C, NM_001354896.1:c.4568G>T, NM_001354898.2:c.4439G>A, NM_001354898.2:c.4439G>C, NM_001354898.2:c.4439G>T, NM_001354898.1:c.4439G>A, NM_001354898.1:c.4439G>C, NM_001354898.1:c.4439G>T, NM_001354899.2:c.4430G>A, NM_001354899.2:c.4430G>C, NM_001354899.2:c.4430G>T, NM_001354899.1:c.4430G>A, NM_001354899.1:c.4430G>C, NM_001354899.1:c.4430G>T, NM_001354900.2:c.4391G>A, NM_001354900.2:c.4391G>C, NM_001354900.2:c.4391G>T, NM_001354900.1:c.4391G>A, NM_001354900.1:c.4391G>C, NM_001354900.1:c.4391G>T, NM_001354902.2:c.4241G>A, NM_001354902.2:c.4241G>C, NM_001354902.2:c.4241G>T, NM_001354902.1:c.4241G>A, NM_001354902.1:c.4241G>C, NM_001354902.1:c.4241G>T, NM_001354901.2:c.4337G>A, NM_001354901.2:c.4337G>C, NM_001354901.2:c.4337G>T, NM_001354901.1:c.4337G>A, NM_001354901.1:c.4337G>C, NM_001354901.1:c.4337G>T, NM_001354903.2:c.4211G>A, NM_001354903.2:c.4211G>C, NM_001354903.2:c.4211G>T, NM_001354903.1:c.4211G>A, NM_001354903.1:c.4211G>C, NM_001354903.1:c.4211G>T, NM_001354904.2:c.4136G>A, NM_001354904.2:c.4136G>C, NM_001354904.2:c.4136G>T, NM_001354904.1:c.4136G>A, NM_001354904.1:c.4136G>C, NM_001354904.1:c.4136G>T, NM_001354905.2:c.4034G>A, NM_001354905.2:c.4034G>C, NM_001354905.2:c.4034G>T, NM_001354905.1:c.4034G>A, NM_001354905.1:c.4034G>C, NM_001354905.1:c.4034G>T, NM_001407470.1:c.3665G>A, NM_001407470.1:c.3665G>C, NM_001407470.1:c.3665G>T, NM_001407447.1:c.4568G>A, NM_001407447.1:c.4568G>C, NM_001407447.1:c.4568G>T, NM_001407452.1:c.4484G>A, NM_001407452.1:c.4484G>C, NM_001407452.1:c.4484G>T, NM_001407446.1:c.4598G>A, NM_001407446.1:c.4598G>C, NM_001407446.1:c.4598G>T, NM_001407472.1:c.3362G>A, NM_001407472.1:c.3362G>C, NM_001407472.1:c.3362G>T, NR_176366.1:n.4768G>A, NR_176366.1:n.4768G>C, NR_176366.1:n.4768G>T, NM_001407448.1:c.4568G>A, NM_001407448.1:c.4568G>C, NM_001407448.1:c.4568G>T, NM_001407449.1:c.4568G>A, NM_001407449.1:c.4568G>C, NM_001407449.1:c.4568G>T, NM_001407450.1:c.4514G>A, NM_001407450.1:c.4514G>C, NM_001407450.1:c.4514G>T, NM_001407456.1:c.4265G>A, NM_001407456.1:c.4265G>C, NM_001407456.1:c.4265G>T, NM_001407460.1:c.4211G>A, NM_001407460.1:c.4211G>C, NM_001407460.1:c.4211G>T, NM_001407451.1:c.4493G>A, NM_001407451.1:c.4493G>C, NM_001407451.1:c.4493G>T, NM_001407453.1:c.4337G>A, NM_001407453.1:c.4337G>C, NM_001407453.1:c.4337G>T, NM_001407469.1:c.4127G>A, NM_001407469.1:c.4127G>C, NM_001407469.1:c.4127G>T, NM_001407471.1:c.3362G>A, NM_001407471.1:c.3362G>C, NM_001407471.1:c.3362G>T, NM_001407457.1:c.4265G>A, NM_001407457.1:c.4265G>C, NM_001407457.1:c.4265G>T, NM_001407455.1:c.4265G>A, NM_001407455.1:c.4265G>C, NM_001407455.1:c.4265G>T, NM_001407458.1:c.4211G>A, NM_001407458.1:c.4211G>C, NM_001407458.1:c.4211G>T, NM_001407459.1:c.4211G>A, NM_001407459.1:c.4211G>C, NM_001407459.1:c.4211G>T, NR_176365.1:n.4349G>A, NR_176365.1:n.4349G>C, NR_176365.1:n.4349G>T, NM_001407454.1:c.4265G>A, NM_001407454.1:c.4265G>C, NM_001407454.1:c.4265G>T, NM_001407467.1:c.4127G>A, NM_001407467.1:c.4127G>C, NM_001407467.1:c.4127G>T, NP_000029.2:p.Ser1505Asn, NP_000029.2:p.Ser1505Thr, NP_000029.2:p.Ser1505Ile, NP_001120982.1:p.Ser1505Asn, NP_001120982.1:p.Ser1505Thr, NP_001120982.1:p.Ser1505Ile, NP_001120983.2:p.Ser1487Asn, NP_001120983.2:p.Ser1487Thr, NP_001120983.2:p.Ser1487Ile, NP_001341824.1:p.Ser1505Asn, NP_001341824.1:p.Ser1505Thr, NP_001341824.1:p.Ser1505Ile, NP_001341826.1:p.Ser1515Asn, NP_001341826.1:p.Ser1515Thr, NP_001341826.1:p.Ser1515Ile, NP_001341835.1:p.Ser1222Asn, NP_001341835.1:p.Ser1222Thr, NP_001341835.1:p.Ser1222Ile, NP_001341825.1:p.Ser1523Asn, NP_001341825.1:p.Ser1523Thr, NP_001341825.1:p.Ser1523Ile, NP_001341827.1:p.Ser1480Asn, NP_001341827.1:p.Ser1480Thr, NP_001341827.1:p.Ser1480Ile, NP_001341828.1:p.Ser1477Asn, NP_001341828.1:p.Ser1477Thr, NP_001341828.1:p.Ser1477Ile, NP_001341829.1:p.Ser1464Asn, NP_001341829.1:p.Ser1464Thr, NP_001341829.1:p.Ser1464Ile, NP_001341831.1:p.Ser1414Asn, NP_001341831.1:p.Ser1414Thr, NP_001341831.1:p.Ser1414Ile, NP_001341830.1:p.Ser1446Asn, NP_001341830.1:p.Ser1446Thr, NP_001341830.1:p.Ser1446Ile, NP_001341832.1:p.Ser1404Asn, NP_001341832.1:p.Ser1404Thr, NP_001341832.1:p.Ser1404Ile, NP_001341833.1:p.Ser1379Asn, NP_001341833.1:p.Ser1379Thr, NP_001341833.1:p.Ser1379Ile, NP_001341834.1:p.Ser1345Asn, NP_001341834.1:p.Ser1345Thr, NP_001341834.1:p.Ser1345Ile

                8.

                rs1489248428 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  5:112840443 (GRCh38)
                  5:112176140 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:112840442:C:A,NC_000005.10:112840442:C:G,NC_000005.10:112840442:C:T
                  Gene:
                  APC (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.112840443C>A, NC_000005.10:g.112840443C>G, NC_000005.10:g.112840443C>T, NC_000005.9:g.112176140C>A, NC_000005.9:g.112176140C>G, NC_000005.9:g.112176140C>T, NG_008481.4:g.152923C>A, NG_008481.4:g.152923C>G, NG_008481.4:g.152923C>T, NM_000038.6:c.4849C>A, NM_000038.6:c.4849C>G, NM_000038.6:c.4849C>T, NM_000038.5:c.4849C>A, NM_000038.5:c.4849C>G, NM_000038.5:c.4849C>T, NM_001127510.3:c.4849C>A, NM_001127510.3:c.4849C>G, NM_001127510.3:c.4849C>T, NM_001127510.2:c.4849C>A, NM_001127510.2:c.4849C>G, NM_001127510.2:c.4849C>T, NM_001127511.3:c.4795C>A, NM_001127511.3:c.4795C>G, NM_001127511.3:c.4795C>T, NM_001127511.2:c.4795C>A, NM_001127511.2:c.4795C>G, NM_001127511.2:c.4795C>T, NM_001354895.2:c.4849C>A, NM_001354895.2:c.4849C>G, NM_001354895.2:c.4849C>T, NM_001354895.1:c.4849C>A, NM_001354895.1:c.4849C>G, NM_001354895.1:c.4849C>T, NM_001354897.2:c.4879C>A, NM_001354897.2:c.4879C>G, NM_001354897.2:c.4879C>T, NM_001354897.1:c.4879C>A, NM_001354897.1:c.4879C>G, NM_001354897.1:c.4879C>T, NM_001354906.2:c.4000C>A, NM_001354906.2:c.4000C>G, NM_001354906.2:c.4000C>T, NM_001354906.1:c.4000C>A, NM_001354906.1:c.4000C>G, NM_001354906.1:c.4000C>T, NM_001354896.2:c.4903C>A, NM_001354896.2:c.4903C>G, NM_001354896.2:c.4903C>T, NM_001354896.1:c.4903C>A, NM_001354896.1:c.4903C>G, NM_001354896.1:c.4903C>T, NM_001354898.2:c.4774C>A, NM_001354898.2:c.4774C>G, NM_001354898.2:c.4774C>T, NM_001354898.1:c.4774C>A, NM_001354898.1:c.4774C>G, NM_001354898.1:c.4774C>T, NM_001354899.2:c.4765C>A, NM_001354899.2:c.4765C>G, NM_001354899.2:c.4765C>T, NM_001354899.1:c.4765C>A, NM_001354899.1:c.4765C>G, NM_001354899.1:c.4765C>T, NM_001354900.2:c.4726C>A, NM_001354900.2:c.4726C>G, NM_001354900.2:c.4726C>T, NM_001354900.1:c.4726C>A, NM_001354900.1:c.4726C>G, NM_001354900.1:c.4726C>T, NM_001354902.2:c.4576C>A, NM_001354902.2:c.4576C>G, NM_001354902.2:c.4576C>T, NM_001354902.1:c.4576C>A, NM_001354902.1:c.4576C>G, NM_001354902.1:c.4576C>T, NM_001354901.2:c.4672C>A, NM_001354901.2:c.4672C>G, NM_001354901.2:c.4672C>T, NM_001354901.1:c.4672C>A, NM_001354901.1:c.4672C>G, NM_001354901.1:c.4672C>T, NM_001354903.2:c.4546C>A, NM_001354903.2:c.4546C>G, NM_001354903.2:c.4546C>T, NM_001354903.1:c.4546C>A, NM_001354903.1:c.4546C>G, NM_001354903.1:c.4546C>T, NM_001354904.2:c.4471C>A, NM_001354904.2:c.4471C>G, NM_001354904.2:c.4471C>T, NM_001354904.1:c.4471C>A, NM_001354904.1:c.4471C>G, NM_001354904.1:c.4471C>T, NM_001354905.2:c.4369C>A, NM_001354905.2:c.4369C>G, NM_001354905.2:c.4369C>T, NM_001354905.1:c.4369C>A, NM_001354905.1:c.4369C>G, NM_001354905.1:c.4369C>T, NM_001407470.1:c.4000C>A, NM_001407470.1:c.4000C>G, NM_001407470.1:c.4000C>T, NM_001407447.1:c.4903C>A, NM_001407447.1:c.4903C>G, NM_001407447.1:c.4903C>T, NM_001407452.1:c.4819C>A, NM_001407452.1:c.4819C>G, NM_001407452.1:c.4819C>T, NM_001407446.1:c.4933C>A, NM_001407446.1:c.4933C>G, NM_001407446.1:c.4933C>T, NM_001407472.1:c.3697C>A, NM_001407472.1:c.3697C>G, NM_001407472.1:c.3697C>T, NR_176366.1:n.5103C>A, NR_176366.1:n.5103C>G, NR_176366.1:n.5103C>T, NM_001407448.1:c.4903C>A, NM_001407448.1:c.4903C>G, NM_001407448.1:c.4903C>T, NM_001407449.1:c.4903C>A, NM_001407449.1:c.4903C>G, NM_001407449.1:c.4903C>T, NM_001407450.1:c.4849C>A, NM_001407450.1:c.4849C>G, NM_001407450.1:c.4849C>T, NM_001407456.1:c.4600C>A, NM_001407456.1:c.4600C>G, NM_001407456.1:c.4600C>T, NM_001407460.1:c.4546C>A, NM_001407460.1:c.4546C>G, NM_001407460.1:c.4546C>T, NM_001407451.1:c.4828C>A, NM_001407451.1:c.4828C>G, NM_001407451.1:c.4828C>T, NM_001407453.1:c.4672C>A, NM_001407453.1:c.4672C>G, NM_001407453.1:c.4672C>T, NM_001407469.1:c.4462C>A, NM_001407469.1:c.4462C>G, NM_001407469.1:c.4462C>T, NM_001407471.1:c.3697C>A, NM_001407471.1:c.3697C>G, NM_001407471.1:c.3697C>T, NM_001407457.1:c.4600C>A, NM_001407457.1:c.4600C>G, NM_001407457.1:c.4600C>T, NM_001407455.1:c.4600C>A, NM_001407455.1:c.4600C>G, NM_001407455.1:c.4600C>T, NM_001407458.1:c.4546C>A, NM_001407458.1:c.4546C>G, NM_001407458.1:c.4546C>T, NM_001407459.1:c.4546C>A, NM_001407459.1:c.4546C>G, NM_001407459.1:c.4546C>T, NR_176365.1:n.4684C>A, NR_176365.1:n.4684C>G, NR_176365.1:n.4684C>T, NM_001407454.1:c.4600C>A, NM_001407454.1:c.4600C>G, NM_001407454.1:c.4600C>T, NM_001407467.1:c.4462C>A, NM_001407467.1:c.4462C>G, NM_001407467.1:c.4462C>T, NP_000029.2:p.Leu1617Ile, NP_000029.2:p.Leu1617Val, NP_000029.2:p.Leu1617Phe, NP_001120982.1:p.Leu1617Ile, NP_001120982.1:p.Leu1617Val, NP_001120982.1:p.Leu1617Phe, NP_001120983.2:p.Leu1599Ile, NP_001120983.2:p.Leu1599Val, NP_001120983.2:p.Leu1599Phe, NP_001341824.1:p.Leu1617Ile, NP_001341824.1:p.Leu1617Val, NP_001341824.1:p.Leu1617Phe, NP_001341826.1:p.Leu1627Ile, NP_001341826.1:p.Leu1627Val, NP_001341826.1:p.Leu1627Phe, NP_001341835.1:p.Leu1334Ile, NP_001341835.1:p.Leu1334Val, NP_001341835.1:p.Leu1334Phe, NP_001341825.1:p.Leu1635Ile, NP_001341825.1:p.Leu1635Val, NP_001341825.1:p.Leu1635Phe, NP_001341827.1:p.Leu1592Ile, NP_001341827.1:p.Leu1592Val, NP_001341827.1:p.Leu1592Phe, NP_001341828.1:p.Leu1589Ile, NP_001341828.1:p.Leu1589Val, NP_001341828.1:p.Leu1589Phe, NP_001341829.1:p.Leu1576Ile, NP_001341829.1:p.Leu1576Val, NP_001341829.1:p.Leu1576Phe, NP_001341831.1:p.Leu1526Ile, NP_001341831.1:p.Leu1526Val, NP_001341831.1:p.Leu1526Phe, NP_001341830.1:p.Leu1558Ile, NP_001341830.1:p.Leu1558Val, NP_001341830.1:p.Leu1558Phe, NP_001341832.1:p.Leu1516Ile, NP_001341832.1:p.Leu1516Val, NP_001341832.1:p.Leu1516Phe, NP_001341833.1:p.Leu1491Ile, NP_001341833.1:p.Leu1491Val, NP_001341833.1:p.Leu1491Phe, NP_001341834.1:p.Leu1457Ile, NP_001341834.1:p.Leu1457Val, NP_001341834.1:p.Leu1457Phe

                  9.

                  rs1488475843 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    5:112842565 (GRCh38)
                    5:112178262 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:112842564:C:A,NC_000005.10:112842564:C:G,NC_000005.10:112842564:C:T
                    Gene:
                    APC (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by cluster
                    HGVS:
                    NC_000005.10:g.112842565C>A, NC_000005.10:g.112842565C>G, NC_000005.10:g.112842565C>T, NC_000005.9:g.112178262C>A, NC_000005.9:g.112178262C>G, NC_000005.9:g.112178262C>T, NG_008481.4:g.155045C>A, NG_008481.4:g.155045C>G, NG_008481.4:g.155045C>T, NM_000038.6:c.6971C>A, NM_000038.6:c.6971C>G, NM_000038.6:c.6971C>T, NM_000038.5:c.6971C>A, NM_000038.5:c.6971C>G, NM_000038.5:c.6971C>T, NM_001127510.3:c.6971C>A, NM_001127510.3:c.6971C>G, NM_001127510.3:c.6971C>T, NM_001127510.2:c.6971C>A, NM_001127510.2:c.6971C>G, NM_001127510.2:c.6971C>T, NM_001127511.3:c.6917C>A, NM_001127511.3:c.6917C>G, NM_001127511.3:c.6917C>T, NM_001127511.2:c.6917C>A, NM_001127511.2:c.6917C>G, NM_001127511.2:c.6917C>T, NM_001354895.2:c.6971C>A, NM_001354895.2:c.6971C>G, NM_001354895.2:c.6971C>T, NM_001354895.1:c.6971C>A, NM_001354895.1:c.6971C>G, NM_001354895.1:c.6971C>T, NM_001354897.2:c.7001C>A, NM_001354897.2:c.7001C>G, NM_001354897.2:c.7001C>T, NM_001354897.1:c.7001C>A, NM_001354897.1:c.7001C>G, NM_001354897.1:c.7001C>T, NM_001354906.2:c.6122C>A, NM_001354906.2:c.6122C>G, NM_001354906.2:c.6122C>T, NM_001354906.1:c.6122C>A, NM_001354906.1:c.6122C>G, NM_001354906.1:c.6122C>T, NM_001354896.2:c.7025C>A, NM_001354896.2:c.7025C>G, NM_001354896.2:c.7025C>T, NM_001354896.1:c.7025C>A, NM_001354896.1:c.7025C>G, NM_001354896.1:c.7025C>T, NM_001354898.2:c.6896C>A, NM_001354898.2:c.6896C>G, NM_001354898.2:c.6896C>T, NM_001354898.1:c.6896C>A, NM_001354898.1:c.6896C>G, NM_001354898.1:c.6896C>T, NM_001354899.2:c.6887C>A, NM_001354899.2:c.6887C>G, NM_001354899.2:c.6887C>T, NM_001354899.1:c.6887C>A, NM_001354899.1:c.6887C>G, NM_001354899.1:c.6887C>T, NM_001354900.2:c.6848C>A, NM_001354900.2:c.6848C>G, NM_001354900.2:c.6848C>T, NM_001354900.1:c.6848C>A, NM_001354900.1:c.6848C>G, NM_001354900.1:c.6848C>T, NM_001354902.2:c.6698C>A, NM_001354902.2:c.6698C>G, NM_001354902.2:c.6698C>T, NM_001354902.1:c.6698C>A, NM_001354902.1:c.6698C>G, NM_001354902.1:c.6698C>T, NM_001354901.2:c.6794C>A, NM_001354901.2:c.6794C>G, NM_001354901.2:c.6794C>T, NM_001354901.1:c.6794C>A, NM_001354901.1:c.6794C>G, NM_001354901.1:c.6794C>T, NM_001354903.2:c.6668C>A, NM_001354903.2:c.6668C>G, NM_001354903.2:c.6668C>T, NM_001354903.1:c.6668C>A, NM_001354903.1:c.6668C>G, NM_001354903.1:c.6668C>T, NM_001354904.2:c.6593C>A, NM_001354904.2:c.6593C>G, NM_001354904.2:c.6593C>T, NM_001354904.1:c.6593C>A, NM_001354904.1:c.6593C>G, NM_001354904.1:c.6593C>T, NM_001354905.2:c.6491C>A, NM_001354905.2:c.6491C>G, NM_001354905.2:c.6491C>T, NM_001354905.1:c.6491C>A, NM_001354905.1:c.6491C>G, NM_001354905.1:c.6491C>T, NM_001407470.1:c.6122C>A, NM_001407470.1:c.6122C>G, NM_001407470.1:c.6122C>T, NM_001407447.1:c.7025C>A, NM_001407447.1:c.7025C>G, NM_001407447.1:c.7025C>T, NM_001407452.1:c.6941C>A, NM_001407452.1:c.6941C>G, NM_001407452.1:c.6941C>T, NM_001407446.1:c.7055C>A, NM_001407446.1:c.7055C>G, NM_001407446.1:c.7055C>T, NM_001407472.1:c.5819C>A, NM_001407472.1:c.5819C>G, NM_001407472.1:c.5819C>T, NR_176366.1:n.7225C>A, NR_176366.1:n.7225C>G, NR_176366.1:n.7225C>T, NM_001407448.1:c.7025C>A, NM_001407448.1:c.7025C>G, NM_001407448.1:c.7025C>T, NM_001407449.1:c.7025C>A, NM_001407449.1:c.7025C>G, NM_001407449.1:c.7025C>T, NM_001407450.1:c.6971C>A, NM_001407450.1:c.6971C>G, NM_001407450.1:c.6971C>T, NM_001407456.1:c.6722C>A, NM_001407456.1:c.6722C>G, NM_001407456.1:c.6722C>T, NM_001407460.1:c.6668C>A, NM_001407460.1:c.6668C>G, NM_001407460.1:c.6668C>T, NM_001407451.1:c.6950C>A, NM_001407451.1:c.6950C>G, NM_001407451.1:c.6950C>T, NM_001407453.1:c.6794C>A, NM_001407453.1:c.6794C>G, NM_001407453.1:c.6794C>T, NM_001407469.1:c.6584C>A, NM_001407469.1:c.6584C>G, NM_001407469.1:c.6584C>T, NM_001407471.1:c.5819C>A, NM_001407471.1:c.5819C>G, NM_001407471.1:c.5819C>T, NM_001407457.1:c.6722C>A, NM_001407457.1:c.6722C>G, NM_001407457.1:c.6722C>T, NM_001407455.1:c.6722C>A, NM_001407455.1:c.6722C>G, NM_001407455.1:c.6722C>T, NM_001407458.1:c.6668C>A, NM_001407458.1:c.6668C>G, NM_001407458.1:c.6668C>T, NM_001407459.1:c.6668C>A, NM_001407459.1:c.6668C>G, NM_001407459.1:c.6668C>T, NR_176365.1:n.6806C>A, NR_176365.1:n.6806C>G, NR_176365.1:n.6806C>T, NM_001407454.1:c.6722C>A, NM_001407454.1:c.6722C>G, NM_001407454.1:c.6722C>T, NM_001407467.1:c.6584C>A, NM_001407467.1:c.6584C>G, NM_001407467.1:c.6584C>T, NP_000029.2:p.Pro2324His, NP_000029.2:p.Pro2324Arg, NP_000029.2:p.Pro2324Leu, NP_001120982.1:p.Pro2324His, NP_001120982.1:p.Pro2324Arg, NP_001120982.1:p.Pro2324Leu, NP_001120983.2:p.Pro2306His, NP_001120983.2:p.Pro2306Arg, NP_001120983.2:p.Pro2306Leu, NP_001341824.1:p.Pro2324His, NP_001341824.1:p.Pro2324Arg, NP_001341824.1:p.Pro2324Leu, NP_001341826.1:p.Pro2334His, NP_001341826.1:p.Pro2334Arg, NP_001341826.1:p.Pro2334Leu, NP_001341835.1:p.Pro2041His, NP_001341835.1:p.Pro2041Arg, NP_001341835.1:p.Pro2041Leu, NP_001341825.1:p.Pro2342His, NP_001341825.1:p.Pro2342Arg, NP_001341825.1:p.Pro2342Leu, NP_001341827.1:p.Pro2299His, NP_001341827.1:p.Pro2299Arg, NP_001341827.1:p.Pro2299Leu, NP_001341828.1:p.Pro2296His, NP_001341828.1:p.Pro2296Arg, NP_001341828.1:p.Pro2296Leu, NP_001341829.1:p.Pro2283His, NP_001341829.1:p.Pro2283Arg, NP_001341829.1:p.Pro2283Leu, NP_001341831.1:p.Pro2233His, NP_001341831.1:p.Pro2233Arg, NP_001341831.1:p.Pro2233Leu, NP_001341830.1:p.Pro2265His, NP_001341830.1:p.Pro2265Arg, NP_001341830.1:p.Pro2265Leu, NP_001341832.1:p.Pro2223His, NP_001341832.1:p.Pro2223Arg, NP_001341832.1:p.Pro2223Leu, NP_001341833.1:p.Pro2198His, NP_001341833.1:p.Pro2198Arg, NP_001341833.1:p.Pro2198Leu, NP_001341834.1:p.Pro2164His, NP_001341834.1:p.Pro2164Arg, NP_001341834.1:p.Pro2164Leu

                    10.

                    rs1488397941 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      5:112839392 (GRCh38)
                      5:112175089 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:112839391:T:A,NC_000005.10:112839391:T:C
                      Gene:
                      APC (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,coding_sequence_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (GnomAD_exomes)
                      C=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000005.10:g.112839392T>A, NC_000005.10:g.112839392T>C, NC_000005.9:g.112175089T>A, NC_000005.9:g.112175089T>C, NG_008481.4:g.151872T>A, NG_008481.4:g.151872T>C, NM_000038.6:c.3798T>A, NM_000038.6:c.3798T>C, NM_000038.5:c.3798T>A, NM_000038.5:c.3798T>C, NM_001127510.3:c.3798T>A, NM_001127510.3:c.3798T>C, NM_001127510.2:c.3798T>A, NM_001127510.2:c.3798T>C, NM_001127511.3:c.3744T>A, NM_001127511.3:c.3744T>C, NM_001127511.2:c.3744T>A, NM_001127511.2:c.3744T>C, NM_001354895.2:c.3798T>A, NM_001354895.2:c.3798T>C, NM_001354895.1:c.3798T>A, NM_001354895.1:c.3798T>C, NM_001354897.2:c.3828T>A, NM_001354897.2:c.3828T>C, NM_001354897.1:c.3828T>A, NM_001354897.1:c.3828T>C, NM_001354906.2:c.2949T>A, NM_001354906.2:c.2949T>C, NM_001354906.1:c.2949T>A, NM_001354906.1:c.2949T>C, NM_001354896.2:c.3852T>A, NM_001354896.2:c.3852T>C, NM_001354896.1:c.3852T>A, NM_001354896.1:c.3852T>C, NM_001354898.2:c.3723T>A, NM_001354898.2:c.3723T>C, NM_001354898.1:c.3723T>A, NM_001354898.1:c.3723T>C, NM_001354899.2:c.3714T>A, NM_001354899.2:c.3714T>C, NM_001354899.1:c.3714T>A, NM_001354899.1:c.3714T>C, NM_001354900.2:c.3675T>A, NM_001354900.2:c.3675T>C, NM_001354900.1:c.3675T>A, NM_001354900.1:c.3675T>C, NM_001354902.2:c.3525T>A, NM_001354902.2:c.3525T>C, NM_001354902.1:c.3525T>A, NM_001354902.1:c.3525T>C, NM_001354901.2:c.3621T>A, NM_001354901.2:c.3621T>C, NM_001354901.1:c.3621T>A, NM_001354901.1:c.3621T>C, NM_001354903.2:c.3495T>A, NM_001354903.2:c.3495T>C, NM_001354903.1:c.3495T>A, NM_001354903.1:c.3495T>C, NM_001354904.2:c.3420T>A, NM_001354904.2:c.3420T>C, NM_001354904.1:c.3420T>A, NM_001354904.1:c.3420T>C, NM_001354905.2:c.3318T>A, NM_001354905.2:c.3318T>C, NM_001354905.1:c.3318T>A, NM_001354905.1:c.3318T>C, NM_001407470.1:c.2949T>A, NM_001407470.1:c.2949T>C, NM_001407447.1:c.3852T>A, NM_001407447.1:c.3852T>C, NM_001407452.1:c.3768T>A, NM_001407452.1:c.3768T>C, NM_001407446.1:c.3882T>A, NM_001407446.1:c.3882T>C, NM_001407472.1:c.2646T>A, NM_001407472.1:c.2646T>C, NR_176366.1:n.4052T>A, NR_176366.1:n.4052T>C, NM_001407448.1:c.3852T>A, NM_001407448.1:c.3852T>C, NM_001407449.1:c.3852T>A, NM_001407449.1:c.3852T>C, NM_001407450.1:c.3798T>A, NM_001407450.1:c.3798T>C, NM_001407456.1:c.3549T>A, NM_001407456.1:c.3549T>C, NM_001407460.1:c.3495T>A, NM_001407460.1:c.3495T>C, NM_001407451.1:c.3777T>A, NM_001407451.1:c.3777T>C, NM_001407453.1:c.3621T>A, NM_001407453.1:c.3621T>C, NM_001407469.1:c.3411T>A, NM_001407469.1:c.3411T>C, NM_001407471.1:c.2646T>A, NM_001407471.1:c.2646T>C, NM_001407457.1:c.3549T>A, NM_001407457.1:c.3549T>C, NM_001407455.1:c.3549T>A, NM_001407455.1:c.3549T>C, NM_001407458.1:c.3495T>A, NM_001407458.1:c.3495T>C, NM_001407459.1:c.3495T>A, NM_001407459.1:c.3495T>C, NR_176365.1:n.3633T>A, NR_176365.1:n.3633T>C, NM_001407454.1:c.3549T>A, NM_001407454.1:c.3549T>C, NM_001407467.1:c.3411T>A, NM_001407467.1:c.3411T>C, NP_000029.2:p.Asp1266Glu, NP_001120982.1:p.Asp1266Glu, NP_001120983.2:p.Asp1248Glu, NP_001341824.1:p.Asp1266Glu, NP_001341826.1:p.Asp1276Glu, NP_001341835.1:p.Asp983Glu, NP_001341825.1:p.Asp1284Glu, NP_001341827.1:p.Asp1241Glu, NP_001341828.1:p.Asp1238Glu, NP_001341829.1:p.Asp1225Glu, NP_001341831.1:p.Asp1175Glu, NP_001341830.1:p.Asp1207Glu, NP_001341832.1:p.Asp1165Glu, NP_001341833.1:p.Asp1140Glu, NP_001341834.1:p.Asp1106Glu

                      11.

                      rs1486622959 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        5:112843581 (GRCh38)
                        5:112179278 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:112843580:G:A,NC_000005.10:112843580:G:C,NC_000005.10:112843580:G:T
                        Gene:
                        APC (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000005.10:g.112843581G>A, NC_000005.10:g.112843581G>C, NC_000005.10:g.112843581G>T, NC_000005.9:g.112179278G>A, NC_000005.9:g.112179278G>C, NC_000005.9:g.112179278G>T, NG_008481.4:g.156061G>A, NG_008481.4:g.156061G>C, NG_008481.4:g.156061G>T, NM_000038.6:c.7987G>A, NM_000038.6:c.7987G>C, NM_000038.6:c.7987G>T, NM_000038.5:c.7987G>A, NM_000038.5:c.7987G>C, NM_000038.5:c.7987G>T, NM_001127510.3:c.7987G>A, NM_001127510.3:c.7987G>C, NM_001127510.3:c.7987G>T, NM_001127510.2:c.7987G>A, NM_001127510.2:c.7987G>C, NM_001127510.2:c.7987G>T, NM_001127511.3:c.7933G>A, NM_001127511.3:c.7933G>C, NM_001127511.3:c.7933G>T, NM_001127511.2:c.7933G>A, NM_001127511.2:c.7933G>C, NM_001127511.2:c.7933G>T, NM_001354895.2:c.7987G>A, NM_001354895.2:c.7987G>C, NM_001354895.2:c.7987G>T, NM_001354895.1:c.7987G>A, NM_001354895.1:c.7987G>C, NM_001354895.1:c.7987G>T, NM_001354897.2:c.8017G>A, NM_001354897.2:c.8017G>C, NM_001354897.2:c.8017G>T, NM_001354897.1:c.8017G>A, NM_001354897.1:c.8017G>C, NM_001354897.1:c.8017G>T, NM_001354906.2:c.7138G>A, NM_001354906.2:c.7138G>C, NM_001354906.2:c.7138G>T, NM_001354906.1:c.7138G>A, NM_001354906.1:c.7138G>C, NM_001354906.1:c.7138G>T, NM_001354896.2:c.8041G>A, NM_001354896.2:c.8041G>C, NM_001354896.2:c.8041G>T, NM_001354896.1:c.8041G>A, NM_001354896.1:c.8041G>C, NM_001354896.1:c.8041G>T, NM_001354898.2:c.7912G>A, NM_001354898.2:c.7912G>C, NM_001354898.2:c.7912G>T, NM_001354898.1:c.7912G>A, NM_001354898.1:c.7912G>C, NM_001354898.1:c.7912G>T, NM_001354899.2:c.7903G>A, NM_001354899.2:c.7903G>C, NM_001354899.2:c.7903G>T, NM_001354899.1:c.7903G>A, NM_001354899.1:c.7903G>C, NM_001354899.1:c.7903G>T, NM_001354900.2:c.7864G>A, NM_001354900.2:c.7864G>C, NM_001354900.2:c.7864G>T, NM_001354900.1:c.7864G>A, NM_001354900.1:c.7864G>C, NM_001354900.1:c.7864G>T, NM_001354902.2:c.7714G>A, NM_001354902.2:c.7714G>C, NM_001354902.2:c.7714G>T, NM_001354902.1:c.7714G>A, NM_001354902.1:c.7714G>C, NM_001354902.1:c.7714G>T, NM_001354901.2:c.7810G>A, NM_001354901.2:c.7810G>C, NM_001354901.2:c.7810G>T, NM_001354901.1:c.7810G>A, NM_001354901.1:c.7810G>C, NM_001354901.1:c.7810G>T, NM_001354903.2:c.7684G>A, NM_001354903.2:c.7684G>C, NM_001354903.2:c.7684G>T, NM_001354903.1:c.7684G>A, NM_001354903.1:c.7684G>C, NM_001354903.1:c.7684G>T, NM_001354904.2:c.7609G>A, NM_001354904.2:c.7609G>C, NM_001354904.2:c.7609G>T, NM_001354904.1:c.7609G>A, NM_001354904.1:c.7609G>C, NM_001354904.1:c.7609G>T, NM_001354905.2:c.7507G>A, NM_001354905.2:c.7507G>C, NM_001354905.2:c.7507G>T, NM_001354905.1:c.7507G>A, NM_001354905.1:c.7507G>C, NM_001354905.1:c.7507G>T, NM_001407470.1:c.7138G>A, NM_001407470.1:c.7138G>C, NM_001407470.1:c.7138G>T, NM_001407447.1:c.8041G>A, NM_001407447.1:c.8041G>C, NM_001407447.1:c.8041G>T, NM_001407452.1:c.7957G>A, NM_001407452.1:c.7957G>C, NM_001407452.1:c.7957G>T, NM_001407446.1:c.8071G>A, NM_001407446.1:c.8071G>C, NM_001407446.1:c.8071G>T, NM_001407472.1:c.6835G>A, NM_001407472.1:c.6835G>C, NM_001407472.1:c.6835G>T, NR_176366.1:n.8241G>A, NR_176366.1:n.8241G>C, NR_176366.1:n.8241G>T, NM_001407448.1:c.8041G>A, NM_001407448.1:c.8041G>C, NM_001407448.1:c.8041G>T, NM_001407449.1:c.8041G>A, NM_001407449.1:c.8041G>C, NM_001407449.1:c.8041G>T, NM_001407450.1:c.7987G>A, NM_001407450.1:c.7987G>C, NM_001407450.1:c.7987G>T, NM_001407456.1:c.7738G>A, NM_001407456.1:c.7738G>C, NM_001407456.1:c.7738G>T, NM_001407460.1:c.7684G>A, NM_001407460.1:c.7684G>C, NM_001407460.1:c.7684G>T, NM_001407451.1:c.7966G>A, NM_001407451.1:c.7966G>C, NM_001407451.1:c.7966G>T, NM_001407453.1:c.7810G>A, NM_001407453.1:c.7810G>C, NM_001407453.1:c.7810G>T, NM_001407469.1:c.7600G>A, NM_001407469.1:c.7600G>C, NM_001407469.1:c.7600G>T, NM_001407471.1:c.6835G>A, NM_001407471.1:c.6835G>C, NM_001407471.1:c.6835G>T, NM_001407457.1:c.7738G>A, NM_001407457.1:c.7738G>C, NM_001407457.1:c.7738G>T, NM_001407455.1:c.7738G>A, NM_001407455.1:c.7738G>C, NM_001407455.1:c.7738G>T, NM_001407458.1:c.7684G>A, NM_001407458.1:c.7684G>C, NM_001407458.1:c.7684G>T, NM_001407459.1:c.7684G>A, NM_001407459.1:c.7684G>C, NM_001407459.1:c.7684G>T, NR_176365.1:n.7822G>A, NR_176365.1:n.7822G>C, NR_176365.1:n.7822G>T, NM_001407454.1:c.7738G>A, NM_001407454.1:c.7738G>C, NM_001407454.1:c.7738G>T, NM_001407467.1:c.7600G>A, NM_001407467.1:c.7600G>C, NM_001407467.1:c.7600G>T, NP_000029.2:p.Asp2663Asn, NP_000029.2:p.Asp2663His, NP_000029.2:p.Asp2663Tyr, NP_001120982.1:p.Asp2663Asn, NP_001120982.1:p.Asp2663His, NP_001120982.1:p.Asp2663Tyr, NP_001120983.2:p.Asp2645Asn, NP_001120983.2:p.Asp2645His, NP_001120983.2:p.Asp2645Tyr, NP_001341824.1:p.Asp2663Asn, NP_001341824.1:p.Asp2663His, NP_001341824.1:p.Asp2663Tyr, NP_001341826.1:p.Asp2673Asn, NP_001341826.1:p.Asp2673His, NP_001341826.1:p.Asp2673Tyr, NP_001341835.1:p.Asp2380Asn, NP_001341835.1:p.Asp2380His, NP_001341835.1:p.Asp2380Tyr, NP_001341825.1:p.Asp2681Asn, NP_001341825.1:p.Asp2681His, NP_001341825.1:p.Asp2681Tyr, NP_001341827.1:p.Asp2638Asn, NP_001341827.1:p.Asp2638His, NP_001341827.1:p.Asp2638Tyr, NP_001341828.1:p.Asp2635Asn, NP_001341828.1:p.Asp2635His, NP_001341828.1:p.Asp2635Tyr, NP_001341829.1:p.Asp2622Asn, NP_001341829.1:p.Asp2622His, NP_001341829.1:p.Asp2622Tyr, NP_001341831.1:p.Asp2572Asn, NP_001341831.1:p.Asp2572His, NP_001341831.1:p.Asp2572Tyr, NP_001341830.1:p.Asp2604Asn, NP_001341830.1:p.Asp2604His, NP_001341830.1:p.Asp2604Tyr, NP_001341832.1:p.Asp2562Asn, NP_001341832.1:p.Asp2562His, NP_001341832.1:p.Asp2562Tyr, NP_001341833.1:p.Asp2537Asn, NP_001341833.1:p.Asp2537His, NP_001341833.1:p.Asp2537Tyr, NP_001341834.1:p.Asp2503Asn, NP_001341834.1:p.Asp2503His, NP_001341834.1:p.Asp2503Tyr

                        12.

                        rs1485974418 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          5:112815556 (GRCh38)
                          5:112151253 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:112815555:C:G,NC_000005.10:112815555:C:T
                          Gene:
                          APC (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000005.10:g.112815556C>G, NC_000005.10:g.112815556C>T, NC_000005.9:g.112151253C>G, NC_000005.9:g.112151253C>T, NG_008481.4:g.128036C>G, NG_008481.4:g.128036C>T, NM_000038.6:c.896C>G, NM_000038.6:c.896C>T, NM_000038.5:c.896C>G, NM_000038.5:c.896C>T, NM_001127510.3:c.896C>G, NM_001127510.3:c.896C>T, NM_001127510.2:c.896C>G, NM_001127510.2:c.896C>T, NM_001127511.3:c.842C>G, NM_001127511.3:c.842C>T, NM_001127511.2:c.842C>G, NM_001127511.2:c.842C>T, NM_001354895.2:c.896C>G, NM_001354895.2:c.896C>T, NM_001354895.1:c.896C>G, NM_001354895.1:c.896C>T, NM_001354897.2:c.926C>G, NM_001354897.2:c.926C>T, NM_001354897.1:c.926C>G, NM_001354897.1:c.926C>T, NM_001354906.2:c.47C>G, NM_001354906.2:c.47C>T, NM_001354906.1:c.47C>G, NM_001354906.1:c.47C>T, NM_001354896.2:c.896C>G, NM_001354896.2:c.896C>T, NM_001354896.1:c.896C>G, NM_001354896.1:c.896C>T, NM_001354898.2:c.821C>G, NM_001354898.2:c.821C>T, NM_001354898.1:c.821C>G, NM_001354898.1:c.821C>T, NM_001354899.2:c.812C>G, NM_001354899.2:c.812C>T, NM_001354899.1:c.812C>G, NM_001354899.1:c.812C>T, NM_001354900.2:c.719C>G, NM_001354900.2:c.719C>T, NM_001354900.1:c.719C>G, NM_001354900.1:c.719C>T, NM_001354902.2:c.926C>G, NM_001354902.2:c.926C>T, NM_001354902.1:c.926C>G, NM_001354902.1:c.926C>T, NM_001354901.2:c.719C>G, NM_001354901.2:c.719C>T, NM_001354901.1:c.719C>G, NM_001354901.1:c.719C>T, NM_001354903.2:c.896C>G, NM_001354903.2:c.896C>T, NM_001354903.1:c.896C>G, NM_001354903.1:c.896C>T, NM_001354904.2:c.821C>G, NM_001354904.2:c.821C>T, NM_001354904.1:c.821C>G, NM_001354904.1:c.821C>T, NM_001354905.2:c.719C>G, NM_001354905.2:c.719C>T, NM_001354905.1:c.719C>G, NM_001354905.1:c.719C>T, NM_001407470.1:c.47C>G, NM_001407470.1:c.47C>T, NM_001407447.1:c.896C>G, NM_001407447.1:c.896C>T, NM_001407452.1:c.812C>G, NM_001407452.1:c.812C>T, NM_001407446.1:c.926C>G, NM_001407446.1:c.926C>T, NM_001407472.1:c.47C>G, NM_001407472.1:c.47C>T, NR_176366.1:n.1485C>G, NR_176366.1:n.1485C>T, NM_001407448.1:c.896C>G, NM_001407448.1:c.896C>T, NM_001407449.1:c.896C>G, NM_001407449.1:c.896C>T, NM_001407450.1:c.896C>G, NM_001407450.1:c.896C>T, NM_001407456.1:c.896C>G, NM_001407456.1:c.896C>T, NM_001407460.1:c.896C>G, NM_001407460.1:c.896C>T, NM_001407451.1:c.821C>G, NM_001407451.1:c.821C>T, NM_001407453.1:c.719C>G, NM_001407453.1:c.719C>T, NM_001407469.1:c.812C>G, NM_001407469.1:c.812C>T, NM_001407471.1:c.47C>G, NM_001407471.1:c.47C>T, NM_001407457.1:c.896C>G, NM_001407457.1:c.896C>T, NM_001407455.1:c.896C>G, NM_001407455.1:c.896C>T, NM_001407458.1:c.896C>G, NM_001407458.1:c.896C>T, NM_001407459.1:c.896C>G, NM_001407459.1:c.896C>T, NR_176365.1:n.1066C>G, NR_176365.1:n.1066C>T, NM_001407454.1:c.896C>G, NM_001407454.1:c.896C>T, NM_001407467.1:c.812C>G, NM_001407467.1:c.812C>T, NP_000029.2:p.Ser299Cys, NP_000029.2:p.Ser299Phe, NP_001120982.1:p.Ser299Cys, NP_001120982.1:p.Ser299Phe, NP_001120983.2:p.Ser281Cys, NP_001120983.2:p.Ser281Phe, NP_001341824.1:p.Ser299Cys, NP_001341824.1:p.Ser299Phe, NP_001341826.1:p.Ser309Cys, NP_001341826.1:p.Ser309Phe, NP_001341835.1:p.Ser16Cys, NP_001341835.1:p.Ser16Phe, NP_001341825.1:p.Ser299Cys, NP_001341825.1:p.Ser299Phe, NP_001341827.1:p.Ser274Cys, NP_001341827.1:p.Ser274Phe, NP_001341828.1:p.Ser271Cys, NP_001341828.1:p.Ser271Phe, NP_001341829.1:p.Ser240Cys, NP_001341829.1:p.Ser240Phe, NP_001341831.1:p.Ser309Cys, NP_001341831.1:p.Ser309Phe, NP_001341830.1:p.Ser240Cys, NP_001341830.1:p.Ser240Phe, NP_001341832.1:p.Ser299Cys, NP_001341832.1:p.Ser299Phe, NP_001341833.1:p.Ser274Cys, NP_001341833.1:p.Ser274Phe, NP_001341834.1:p.Ser240Cys, NP_001341834.1:p.Ser240Phe

                          13.

                          rs1485866385 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            5:112767287 (GRCh38)
                            5:112102984 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:112767286:T:A,NC_000005.10:112767286:T:G
                            Gene:
                            APC (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            G=0.000023/6 (TOPMED)
                            HGVS:
                            NC_000005.10:g.112767287T>A, NC_000005.10:g.112767287T>G, NC_000005.9:g.112102984T>A, NC_000005.9:g.112102984T>G, NG_008481.4:g.79767T>A, NG_008481.4:g.79767T>G, NM_000038.6:c.319T>A, NM_000038.6:c.319T>G, NM_000038.5:c.319T>A, NM_000038.5:c.319T>G, NM_001127510.3:c.319T>A, NM_001127510.3:c.319T>G, NM_001127510.2:c.319T>A, NM_001127510.2:c.319T>G, NM_001127511.3:c.349T>A, NM_001127511.3:c.349T>G, NM_001127511.2:c.349T>A, NM_001127511.2:c.349T>G, NM_001354895.2:c.319T>A, NM_001354895.2:c.319T>G, NM_001354895.1:c.319T>A, NM_001354895.1:c.319T>G, NM_001354897.2:c.349T>A, NM_001354897.2:c.349T>G, NM_001354897.1:c.349T>A, NM_001354897.1:c.349T>G, NM_001354906.2:c.-717T>A, NM_001354906.2:c.-717T>G, NM_001354906.1:c.-717T>A, NM_001354906.1:c.-717T>G, NM_001354896.2:c.319T>A, NM_001354896.2:c.319T>G, NM_001354896.1:c.319T>A, NM_001354896.1:c.319T>G, NM_001354898.2:c.244T>A, NM_001354898.2:c.244T>G, NM_001354898.1:c.244T>A, NM_001354898.1:c.244T>G, NM_001354899.2:c.319T>A, NM_001354899.2:c.319T>G, NM_001354899.1:c.319T>A, NM_001354899.1:c.319T>G, NM_001354900.2:c.142T>A, NM_001354900.2:c.142T>G, NM_001354900.1:c.142T>A, NM_001354900.1:c.142T>G, NM_001354902.2:c.349T>A, NM_001354902.2:c.349T>G, NM_001354902.1:c.349T>A, NM_001354902.1:c.349T>G, NM_001354901.2:c.142T>A, NM_001354901.2:c.142T>G, NM_001354901.1:c.142T>A, NM_001354901.1:c.142T>G, NM_001354903.2:c.319T>A, NM_001354903.2:c.319T>G, NM_001354903.1:c.319T>A, NM_001354903.1:c.319T>G, NM_001354904.2:c.244T>A, NM_001354904.2:c.244T>G, NM_001354904.1:c.244T>A, NM_001354904.1:c.244T>G, NM_001354905.2:c.142T>A, NM_001354905.2:c.142T>G, NM_001354905.1:c.142T>A, NM_001354905.1:c.142T>G, NM_001407470.1:c.-717T>A, NM_001407470.1:c.-717T>G, NM_001407447.1:c.319T>A, NM_001407447.1:c.319T>G, NM_001407452.1:c.319T>A, NM_001407452.1:c.319T>G, NM_001407446.1:c.349T>A, NM_001407446.1:c.349T>G, NM_001407472.1:c.-717T>A, NM_001407472.1:c.-717T>G, NR_176366.1:n.722T>A, NR_176366.1:n.722T>G, NM_001407448.1:c.319T>A, NM_001407448.1:c.319T>G, NM_001407449.1:c.319T>A, NM_001407449.1:c.319T>G, NM_001407450.1:c.319T>A, NM_001407450.1:c.319T>G, NM_001407456.1:c.319T>A, NM_001407456.1:c.319T>G, NM_001407460.1:c.319T>A, NM_001407460.1:c.319T>G, NM_001407451.1:c.244T>A, NM_001407451.1:c.244T>G, NM_001407453.1:c.142T>A, NM_001407453.1:c.142T>G, NM_001407469.1:c.319T>A, NM_001407469.1:c.319T>G, NM_001407471.1:c.-717T>A, NM_001407471.1:c.-717T>G, NM_001407457.1:c.319T>A, NM_001407457.1:c.319T>G, NM_001407455.1:c.319T>A, NM_001407455.1:c.319T>G, NM_001407458.1:c.319T>A, NM_001407458.1:c.319T>G, NM_001407459.1:c.319T>A, NM_001407459.1:c.319T>G, NR_176365.1:n.489T>A, NR_176365.1:n.489T>G, NM_001407454.1:c.319T>A, NM_001407454.1:c.319T>G, NM_001407467.1:c.319T>A, NM_001407467.1:c.319T>G, NP_000029.2:p.Ser107Thr, NP_000029.2:p.Ser107Ala, NP_001120982.1:p.Ser107Thr, NP_001120982.1:p.Ser107Ala, NP_001120983.2:p.Ser117Thr, NP_001120983.2:p.Ser117Ala, NP_001341824.1:p.Ser107Thr, NP_001341824.1:p.Ser107Ala, NP_001341826.1:p.Ser117Thr, NP_001341826.1:p.Ser117Ala, NP_001341825.1:p.Ser107Thr, NP_001341825.1:p.Ser107Ala, NP_001341827.1:p.Ser82Thr, NP_001341827.1:p.Ser82Ala, NP_001341828.1:p.Ser107Thr, NP_001341828.1:p.Ser107Ala, NP_001341829.1:p.Ser48Thr, NP_001341829.1:p.Ser48Ala, NP_001341831.1:p.Ser117Thr, NP_001341831.1:p.Ser117Ala, NP_001341830.1:p.Ser48Thr, NP_001341830.1:p.Ser48Ala, NP_001341832.1:p.Ser107Thr, NP_001341832.1:p.Ser107Ala, NP_001341833.1:p.Ser82Thr, NP_001341833.1:p.Ser82Ala, NP_001341834.1:p.Ser48Thr, NP_001341834.1:p.Ser48Ala

                            14.

                            rs1485825595 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:112767250 (GRCh38)
                              5:112102947 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:112767249:T:C
                              Gene:
                              APC (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.112767250T>C, NC_000005.9:g.112102947T>C, NG_008481.4:g.79730T>C, NM_000038.6:c.282T>C, NM_000038.5:c.282T>C, NM_001127510.3:c.282T>C, NM_001127510.2:c.282T>C, NM_001127511.3:c.312T>C, NM_001127511.2:c.312T>C, NM_001354895.2:c.282T>C, NM_001354895.1:c.282T>C, NM_001354897.2:c.312T>C, NM_001354897.1:c.312T>C, NM_001354906.2:c.-754T>C, NM_001354906.1:c.-754T>C, NM_001354896.2:c.282T>C, NM_001354896.1:c.282T>C, NM_001354898.2:c.207T>C, NM_001354898.1:c.207T>C, NM_001354899.2:c.282T>C, NM_001354899.1:c.282T>C, NM_001354900.2:c.105T>C, NM_001354900.1:c.105T>C, NM_001354902.2:c.312T>C, NM_001354902.1:c.312T>C, NM_001354901.2:c.105T>C, NM_001354901.1:c.105T>C, NM_001354903.2:c.282T>C, NM_001354903.1:c.282T>C, NM_001354904.2:c.207T>C, NM_001354904.1:c.207T>C, NM_001354905.2:c.105T>C, NM_001354905.1:c.105T>C, NM_001407470.1:c.-754T>C, NM_001407447.1:c.282T>C, NM_001407452.1:c.282T>C, NM_001407446.1:c.312T>C, NM_001407472.1:c.-754T>C, NR_176366.1:n.685T>C, NM_001407448.1:c.282T>C, NM_001407449.1:c.282T>C, NM_001407450.1:c.282T>C, NM_001407456.1:c.282T>C, NM_001407460.1:c.282T>C, NM_001407451.1:c.207T>C, NM_001407453.1:c.105T>C, NM_001407469.1:c.282T>C, NM_001407471.1:c.-754T>C, NM_001407457.1:c.282T>C, NM_001407455.1:c.282T>C, NM_001407458.1:c.282T>C, NM_001407459.1:c.282T>C, NR_176365.1:n.452T>C, NM_001407454.1:c.282T>C, NM_001407467.1:c.282T>C

                              15.

                              rs1485583302 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                5:112843692 (GRCh38)
                                5:112179389 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:112843691:A:G,NC_000005.10:112843691:A:T
                                Gene:
                                APC (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000005.10:g.112843692A>G, NC_000005.10:g.112843692A>T, NC_000005.9:g.112179389A>G, NC_000005.9:g.112179389A>T, NG_008481.4:g.156172A>G, NG_008481.4:g.156172A>T, NM_000038.6:c.8098A>G, NM_000038.6:c.8098A>T, NM_000038.5:c.8098A>G, NM_000038.5:c.8098A>T, NM_001127510.3:c.8098A>G, NM_001127510.3:c.8098A>T, NM_001127510.2:c.8098A>G, NM_001127510.2:c.8098A>T, NM_001127511.3:c.8044A>G, NM_001127511.3:c.8044A>T, NM_001127511.2:c.8044A>G, NM_001127511.2:c.8044A>T, NM_001354895.2:c.8098A>G, NM_001354895.2:c.8098A>T, NM_001354895.1:c.8098A>G, NM_001354895.1:c.8098A>T, NM_001354897.2:c.8128A>G, NM_001354897.2:c.8128A>T, NM_001354897.1:c.8128A>G, NM_001354897.1:c.8128A>T, NM_001354906.2:c.7249A>G, NM_001354906.2:c.7249A>T, NM_001354906.1:c.7249A>G, NM_001354906.1:c.7249A>T, NM_001354896.2:c.8152A>G, NM_001354896.2:c.8152A>T, NM_001354896.1:c.8152A>G, NM_001354896.1:c.8152A>T, NM_001354898.2:c.8023A>G, NM_001354898.2:c.8023A>T, NM_001354898.1:c.8023A>G, NM_001354898.1:c.8023A>T, NM_001354899.2:c.8014A>G, NM_001354899.2:c.8014A>T, NM_001354899.1:c.8014A>G, NM_001354899.1:c.8014A>T, NM_001354900.2:c.7975A>G, NM_001354900.2:c.7975A>T, NM_001354900.1:c.7975A>G, NM_001354900.1:c.7975A>T, NM_001354902.2:c.7825A>G, NM_001354902.2:c.7825A>T, NM_001354902.1:c.7825A>G, NM_001354902.1:c.7825A>T, NM_001354901.2:c.7921A>G, NM_001354901.2:c.7921A>T, NM_001354901.1:c.7921A>G, NM_001354901.1:c.7921A>T, NM_001354903.2:c.7795A>G, NM_001354903.2:c.7795A>T, NM_001354903.1:c.7795A>G, NM_001354903.1:c.7795A>T, NM_001354904.2:c.7720A>G, NM_001354904.2:c.7720A>T, NM_001354904.1:c.7720A>G, NM_001354904.1:c.7720A>T, NM_001354905.2:c.7618A>G, NM_001354905.2:c.7618A>T, NM_001354905.1:c.7618A>G, NM_001354905.1:c.7618A>T, NM_001407470.1:c.7249A>G, NM_001407470.1:c.7249A>T, NM_001407447.1:c.8152A>G, NM_001407447.1:c.8152A>T, NM_001407452.1:c.8068A>G, NM_001407452.1:c.8068A>T, NM_001407446.1:c.8182A>G, NM_001407446.1:c.8182A>T, NM_001407472.1:c.6946A>G, NM_001407472.1:c.6946A>T, NR_176366.1:n.8352A>G, NR_176366.1:n.8352A>T, NM_001407448.1:c.8152A>G, NM_001407448.1:c.8152A>T, NM_001407449.1:c.8152A>G, NM_001407449.1:c.8152A>T, NM_001407450.1:c.8098A>G, NM_001407450.1:c.8098A>T, NM_001407456.1:c.7849A>G, NM_001407456.1:c.7849A>T, NM_001407460.1:c.7795A>G, NM_001407460.1:c.7795A>T, NM_001407451.1:c.8077A>G, NM_001407451.1:c.8077A>T, NM_001407453.1:c.7921A>G, NM_001407453.1:c.7921A>T, NM_001407469.1:c.7711A>G, NM_001407469.1:c.7711A>T, NM_001407471.1:c.6946A>G, NM_001407471.1:c.6946A>T, NM_001407457.1:c.7849A>G, NM_001407457.1:c.7849A>T, NM_001407455.1:c.7849A>G, NM_001407455.1:c.7849A>T, NM_001407458.1:c.7795A>G, NM_001407458.1:c.7795A>T, NM_001407459.1:c.7795A>G, NM_001407459.1:c.7795A>T, NR_176365.1:n.7933A>G, NR_176365.1:n.7933A>T, NM_001407454.1:c.7849A>G, NM_001407454.1:c.7849A>T, NM_001407467.1:c.7711A>G, NM_001407467.1:c.7711A>T, NP_000029.2:p.Asn2700Asp, NP_000029.2:p.Asn2700Tyr, NP_001120982.1:p.Asn2700Asp, NP_001120982.1:p.Asn2700Tyr, NP_001120983.2:p.Asn2682Asp, NP_001120983.2:p.Asn2682Tyr, NP_001341824.1:p.Asn2700Asp, NP_001341824.1:p.Asn2700Tyr, NP_001341826.1:p.Asn2710Asp, NP_001341826.1:p.Asn2710Tyr, NP_001341835.1:p.Asn2417Asp, NP_001341835.1:p.Asn2417Tyr, NP_001341825.1:p.Asn2718Asp, NP_001341825.1:p.Asn2718Tyr, NP_001341827.1:p.Asn2675Asp, NP_001341827.1:p.Asn2675Tyr, NP_001341828.1:p.Asn2672Asp, NP_001341828.1:p.Asn2672Tyr, NP_001341829.1:p.Asn2659Asp, NP_001341829.1:p.Asn2659Tyr, NP_001341831.1:p.Asn2609Asp, NP_001341831.1:p.Asn2609Tyr, NP_001341830.1:p.Asn2641Asp, NP_001341830.1:p.Asn2641Tyr, NP_001341832.1:p.Asn2599Asp, NP_001341832.1:p.Asn2599Tyr, NP_001341833.1:p.Asn2574Asp, NP_001341833.1:p.Asn2574Tyr, NP_001341834.1:p.Asn2540Asp, NP_001341834.1:p.Asn2540Tyr

                                16.

                                rs1485282469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  5:112840552 (GRCh38)
                                  5:112176249 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:112840551:C:A,NC_000005.10:112840551:C:G,NC_000005.10:112840551:C:T
                                  Gene:
                                  APC (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.112840552C>A, NC_000005.10:g.112840552C>G, NC_000005.10:g.112840552C>T, NC_000005.9:g.112176249C>A, NC_000005.9:g.112176249C>G, NC_000005.9:g.112176249C>T, NG_008481.4:g.153032C>A, NG_008481.4:g.153032C>G, NG_008481.4:g.153032C>T, NM_000038.6:c.4958C>A, NM_000038.6:c.4958C>G, NM_000038.6:c.4958C>T, NM_000038.5:c.4958C>A, NM_000038.5:c.4958C>G, NM_000038.5:c.4958C>T, NM_001127510.3:c.4958C>A, NM_001127510.3:c.4958C>G, NM_001127510.3:c.4958C>T, NM_001127510.2:c.4958C>A, NM_001127510.2:c.4958C>G, NM_001127510.2:c.4958C>T, NM_001127511.3:c.4904C>A, NM_001127511.3:c.4904C>G, NM_001127511.3:c.4904C>T, NM_001127511.2:c.4904C>A, NM_001127511.2:c.4904C>G, NM_001127511.2:c.4904C>T, NM_001354895.2:c.4958C>A, NM_001354895.2:c.4958C>G, NM_001354895.2:c.4958C>T, NM_001354895.1:c.4958C>A, NM_001354895.1:c.4958C>G, NM_001354895.1:c.4958C>T, NM_001354897.2:c.4988C>A, NM_001354897.2:c.4988C>G, NM_001354897.2:c.4988C>T, NM_001354897.1:c.4988C>A, NM_001354897.1:c.4988C>G, NM_001354897.1:c.4988C>T, NM_001354906.2:c.4109C>A, NM_001354906.2:c.4109C>G, NM_001354906.2:c.4109C>T, NM_001354906.1:c.4109C>A, NM_001354906.1:c.4109C>G, NM_001354906.1:c.4109C>T, NM_001354896.2:c.5012C>A, NM_001354896.2:c.5012C>G, NM_001354896.2:c.5012C>T, NM_001354896.1:c.5012C>A, NM_001354896.1:c.5012C>G, NM_001354896.1:c.5012C>T, NM_001354898.2:c.4883C>A, NM_001354898.2:c.4883C>G, NM_001354898.2:c.4883C>T, NM_001354898.1:c.4883C>A, NM_001354898.1:c.4883C>G, NM_001354898.1:c.4883C>T, NM_001354899.2:c.4874C>A, NM_001354899.2:c.4874C>G, NM_001354899.2:c.4874C>T, NM_001354899.1:c.4874C>A, NM_001354899.1:c.4874C>G, NM_001354899.1:c.4874C>T, NM_001354900.2:c.4835C>A, NM_001354900.2:c.4835C>G, NM_001354900.2:c.4835C>T, NM_001354900.1:c.4835C>A, NM_001354900.1:c.4835C>G, NM_001354900.1:c.4835C>T, NM_001354902.2:c.4685C>A, NM_001354902.2:c.4685C>G, NM_001354902.2:c.4685C>T, NM_001354902.1:c.4685C>A, NM_001354902.1:c.4685C>G, NM_001354902.1:c.4685C>T, NM_001354901.2:c.4781C>A, NM_001354901.2:c.4781C>G, NM_001354901.2:c.4781C>T, NM_001354901.1:c.4781C>A, NM_001354901.1:c.4781C>G, NM_001354901.1:c.4781C>T, NM_001354903.2:c.4655C>A, NM_001354903.2:c.4655C>G, NM_001354903.2:c.4655C>T, NM_001354903.1:c.4655C>A, NM_001354903.1:c.4655C>G, NM_001354903.1:c.4655C>T, NM_001354904.2:c.4580C>A, NM_001354904.2:c.4580C>G, NM_001354904.2:c.4580C>T, NM_001354904.1:c.4580C>A, NM_001354904.1:c.4580C>G, NM_001354904.1:c.4580C>T, NM_001354905.2:c.4478C>A, NM_001354905.2:c.4478C>G, NM_001354905.2:c.4478C>T, NM_001354905.1:c.4478C>A, NM_001354905.1:c.4478C>G, NM_001354905.1:c.4478C>T, NM_001407470.1:c.4109C>A, NM_001407470.1:c.4109C>G, NM_001407470.1:c.4109C>T, NM_001407447.1:c.5012C>A, NM_001407447.1:c.5012C>G, NM_001407447.1:c.5012C>T, NM_001407452.1:c.4928C>A, NM_001407452.1:c.4928C>G, NM_001407452.1:c.4928C>T, NM_001407446.1:c.5042C>A, NM_001407446.1:c.5042C>G, NM_001407446.1:c.5042C>T, NM_001407472.1:c.3806C>A, NM_001407472.1:c.3806C>G, NM_001407472.1:c.3806C>T, NR_176366.1:n.5212C>A, NR_176366.1:n.5212C>G, NR_176366.1:n.5212C>T, NM_001407448.1:c.5012C>A, NM_001407448.1:c.5012C>G, NM_001407448.1:c.5012C>T, NM_001407449.1:c.5012C>A, NM_001407449.1:c.5012C>G, NM_001407449.1:c.5012C>T, NM_001407450.1:c.4958C>A, NM_001407450.1:c.4958C>G, NM_001407450.1:c.4958C>T, NM_001407456.1:c.4709C>A, NM_001407456.1:c.4709C>G, NM_001407456.1:c.4709C>T, NM_001407460.1:c.4655C>A, NM_001407460.1:c.4655C>G, NM_001407460.1:c.4655C>T, NM_001407451.1:c.4937C>A, NM_001407451.1:c.4937C>G, NM_001407451.1:c.4937C>T, NM_001407453.1:c.4781C>A, NM_001407453.1:c.4781C>G, NM_001407453.1:c.4781C>T, NM_001407469.1:c.4571C>A, NM_001407469.1:c.4571C>G, NM_001407469.1:c.4571C>T, NM_001407471.1:c.3806C>A, NM_001407471.1:c.3806C>G, NM_001407471.1:c.3806C>T, NM_001407457.1:c.4709C>A, NM_001407457.1:c.4709C>G, NM_001407457.1:c.4709C>T, NM_001407455.1:c.4709C>A, NM_001407455.1:c.4709C>G, NM_001407455.1:c.4709C>T, NM_001407458.1:c.4655C>A, NM_001407458.1:c.4655C>G, NM_001407458.1:c.4655C>T, NM_001407459.1:c.4655C>A, NM_001407459.1:c.4655C>G, NM_001407459.1:c.4655C>T, NR_176365.1:n.4793C>A, NR_176365.1:n.4793C>G, NR_176365.1:n.4793C>T, NM_001407454.1:c.4709C>A, NM_001407454.1:c.4709C>G, NM_001407454.1:c.4709C>T, NM_001407467.1:c.4571C>A, NM_001407467.1:c.4571C>G, NM_001407467.1:c.4571C>T, NP_000029.2:p.Thr1653Lys, NP_000029.2:p.Thr1653Arg, NP_000029.2:p.Thr1653Ile, NP_001120982.1:p.Thr1653Lys, NP_001120982.1:p.Thr1653Arg, NP_001120982.1:p.Thr1653Ile, NP_001120983.2:p.Thr1635Lys, NP_001120983.2:p.Thr1635Arg, NP_001120983.2:p.Thr1635Ile, NP_001341824.1:p.Thr1653Lys, NP_001341824.1:p.Thr1653Arg, NP_001341824.1:p.Thr1653Ile, NP_001341826.1:p.Thr1663Lys, NP_001341826.1:p.Thr1663Arg, NP_001341826.1:p.Thr1663Ile, NP_001341835.1:p.Thr1370Lys, NP_001341835.1:p.Thr1370Arg, NP_001341835.1:p.Thr1370Ile, NP_001341825.1:p.Thr1671Lys, NP_001341825.1:p.Thr1671Arg, NP_001341825.1:p.Thr1671Ile, NP_001341827.1:p.Thr1628Lys, NP_001341827.1:p.Thr1628Arg, NP_001341827.1:p.Thr1628Ile, NP_001341828.1:p.Thr1625Lys, NP_001341828.1:p.Thr1625Arg, NP_001341828.1:p.Thr1625Ile, NP_001341829.1:p.Thr1612Lys, NP_001341829.1:p.Thr1612Arg, NP_001341829.1:p.Thr1612Ile, NP_001341831.1:p.Thr1562Lys, NP_001341831.1:p.Thr1562Arg, NP_001341831.1:p.Thr1562Ile, NP_001341830.1:p.Thr1594Lys, NP_001341830.1:p.Thr1594Arg, NP_001341830.1:p.Thr1594Ile, NP_001341832.1:p.Thr1552Lys, NP_001341832.1:p.Thr1552Arg, NP_001341832.1:p.Thr1552Ile, NP_001341833.1:p.Thr1527Lys, NP_001341833.1:p.Thr1527Arg, NP_001341833.1:p.Thr1527Ile, NP_001341834.1:p.Thr1493Lys, NP_001341834.1:p.Thr1493Arg, NP_001341834.1:p.Thr1493Ile

                                  17.

                                  rs1484968072 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    5:112738444 (GRCh38)
                                    5:112074141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:112738443:G:A,NC_000005.10:112738443:G:C
                                    Gene:
                                    APC (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1484797510 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      5:112780812 (GRCh38)
                                      5:112116509 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:112780811:C:A,NC_000005.10:112780811:C:G,NC_000005.10:112780811:C:T
                                      Gene:
                                      APC (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.112780812C>A, NC_000005.10:g.112780812C>G, NC_000005.10:g.112780812C>T, NC_000005.9:g.112116509C>A, NC_000005.9:g.112116509C>G, NC_000005.9:g.112116509C>T, NG_008481.4:g.93292C>A, NG_008481.4:g.93292C>G, NG_008481.4:g.93292C>T, NM_000038.6:c.554C>A, NM_000038.6:c.554C>G, NM_000038.6:c.554C>T, NM_000038.5:c.554C>A, NM_000038.5:c.554C>G, NM_000038.5:c.554C>T, NM_001127510.3:c.554C>A, NM_001127510.3:c.554C>G, NM_001127510.3:c.554C>T, NM_001127510.2:c.554C>A, NM_001127510.2:c.554C>G, NM_001127510.2:c.554C>T, NM_001127511.3:c.584C>A, NM_001127511.3:c.584C>G, NM_001127511.3:c.584C>T, NM_001127511.2:c.584C>A, NM_001127511.2:c.584C>G, NM_001127511.2:c.584C>T, NM_001354895.2:c.554C>A, NM_001354895.2:c.554C>G, NM_001354895.2:c.554C>T, NM_001354895.1:c.554C>A, NM_001354895.1:c.554C>G, NM_001354895.1:c.554C>T, NM_001354897.2:c.584C>A, NM_001354897.2:c.584C>G, NM_001354897.2:c.584C>T, NM_001354897.1:c.584C>A, NM_001354897.1:c.584C>G, NM_001354897.1:c.584C>T, NM_001354906.2:c.-482C>A, NM_001354906.2:c.-482C>G, NM_001354906.2:c.-482C>T, NM_001354906.1:c.-482C>A, NM_001354906.1:c.-482C>G, NM_001354906.1:c.-482C>T, NM_001354896.2:c.554C>A, NM_001354896.2:c.554C>G, NM_001354896.2:c.554C>T, NM_001354896.1:c.554C>A, NM_001354896.1:c.554C>G, NM_001354896.1:c.554C>T, NM_001354898.2:c.479C>A, NM_001354898.2:c.479C>G, NM_001354898.2:c.479C>T, NM_001354898.1:c.479C>A, NM_001354898.1:c.479C>G, NM_001354898.1:c.479C>T, NM_001354899.2:c.554C>A, NM_001354899.2:c.554C>G, NM_001354899.2:c.554C>T, NM_001354899.1:c.554C>A, NM_001354899.1:c.554C>G, NM_001354899.1:c.554C>T, NM_001354900.2:c.377C>A, NM_001354900.2:c.377C>G, NM_001354900.2:c.377C>T, NM_001354900.1:c.377C>A, NM_001354900.1:c.377C>G, NM_001354900.1:c.377C>T, NM_001354902.2:c.584C>A, NM_001354902.2:c.584C>G, NM_001354902.2:c.584C>T, NM_001354902.1:c.584C>A, NM_001354902.1:c.584C>G, NM_001354902.1:c.584C>T, NM_001354901.2:c.377C>A, NM_001354901.2:c.377C>G, NM_001354901.2:c.377C>T, NM_001354901.1:c.377C>A, NM_001354901.1:c.377C>G, NM_001354901.1:c.377C>T, NM_001354903.2:c.554C>A, NM_001354903.2:c.554C>G, NM_001354903.2:c.554C>T, NM_001354903.1:c.554C>A, NM_001354903.1:c.554C>G, NM_001354903.1:c.554C>T, NM_001354904.2:c.479C>A, NM_001354904.2:c.479C>G, NM_001354904.2:c.479C>T, NM_001354904.1:c.479C>A, NM_001354904.1:c.479C>G, NM_001354904.1:c.479C>T, NM_001354905.2:c.377C>A, NM_001354905.2:c.377C>G, NM_001354905.2:c.377C>T, NM_001354905.1:c.377C>A, NM_001354905.1:c.377C>G, NM_001354905.1:c.377C>T, NM_001407470.1:c.-482C>A, NM_001407470.1:c.-482C>G, NM_001407470.1:c.-482C>T, NM_001407447.1:c.554C>A, NM_001407447.1:c.554C>G, NM_001407447.1:c.554C>T, NM_001407452.1:c.554C>A, NM_001407452.1:c.554C>G, NM_001407452.1:c.554C>T, NM_001407446.1:c.584C>A, NM_001407446.1:c.584C>G, NM_001407446.1:c.584C>T, NM_001407472.1:c.-482C>A, NM_001407472.1:c.-482C>G, NM_001407472.1:c.-482C>T, NR_176366.1:n.957C>A, NR_176366.1:n.957C>G, NR_176366.1:n.957C>T, NM_001407448.1:c.554C>A, NM_001407448.1:c.554C>G, NM_001407448.1:c.554C>T, NM_001407449.1:c.554C>A, NM_001407449.1:c.554C>G, NM_001407449.1:c.554C>T, NM_001407450.1:c.554C>A, NM_001407450.1:c.554C>G, NM_001407450.1:c.554C>T, NM_001407456.1:c.554C>A, NM_001407456.1:c.554C>G, NM_001407456.1:c.554C>T, NM_001407460.1:c.554C>A, NM_001407460.1:c.554C>G, NM_001407460.1:c.554C>T, NM_001407451.1:c.479C>A, NM_001407451.1:c.479C>G, NM_001407451.1:c.479C>T, NM_001407453.1:c.377C>A, NM_001407453.1:c.377C>G, NM_001407453.1:c.377C>T, NM_001407469.1:c.554C>A, NM_001407469.1:c.554C>G, NM_001407469.1:c.554C>T, NM_001407471.1:c.-482C>A, NM_001407471.1:c.-482C>G, NM_001407471.1:c.-482C>T, NM_001407457.1:c.554C>A, NM_001407457.1:c.554C>G, NM_001407457.1:c.554C>T, NM_001407455.1:c.554C>A, NM_001407455.1:c.554C>G, NM_001407455.1:c.554C>T, NM_001407458.1:c.554C>A, NM_001407458.1:c.554C>G, NM_001407458.1:c.554C>T, NM_001407459.1:c.554C>A, NM_001407459.1:c.554C>G, NM_001407459.1:c.554C>T, NR_176365.1:n.724C>A, NR_176365.1:n.724C>G, NR_176365.1:n.724C>T, NM_001407454.1:c.554C>A, NM_001407454.1:c.554C>G, NM_001407454.1:c.554C>T, NM_001407467.1:c.554C>A, NM_001407467.1:c.554C>G, NM_001407467.1:c.554C>T, NP_000029.2:p.Thr185Asn, NP_000029.2:p.Thr185Ser, NP_000029.2:p.Thr185Ile, NP_001120982.1:p.Thr185Asn, NP_001120982.1:p.Thr185Ser, NP_001120982.1:p.Thr185Ile, NP_001120983.2:p.Thr195Asn, NP_001120983.2:p.Thr195Ser, NP_001120983.2:p.Thr195Ile, NP_001341824.1:p.Thr185Asn, NP_001341824.1:p.Thr185Ser, NP_001341824.1:p.Thr185Ile, NP_001341826.1:p.Thr195Asn, NP_001341826.1:p.Thr195Ser, NP_001341826.1:p.Thr195Ile, NP_001341825.1:p.Thr185Asn, NP_001341825.1:p.Thr185Ser, NP_001341825.1:p.Thr185Ile, NP_001341827.1:p.Thr160Asn, NP_001341827.1:p.Thr160Ser, NP_001341827.1:p.Thr160Ile, NP_001341828.1:p.Thr185Asn, NP_001341828.1:p.Thr185Ser, NP_001341828.1:p.Thr185Ile, NP_001341829.1:p.Thr126Asn, NP_001341829.1:p.Thr126Ser, NP_001341829.1:p.Thr126Ile, NP_001341831.1:p.Thr195Asn, NP_001341831.1:p.Thr195Ser, NP_001341831.1:p.Thr195Ile, NP_001341830.1:p.Thr126Asn, NP_001341830.1:p.Thr126Ser, NP_001341830.1:p.Thr126Ile, NP_001341832.1:p.Thr185Asn, NP_001341832.1:p.Thr185Ser, NP_001341832.1:p.Thr185Ile, NP_001341833.1:p.Thr160Asn, NP_001341833.1:p.Thr160Ser, NP_001341833.1:p.Thr160Ile, NP_001341834.1:p.Thr126Asn, NP_001341834.1:p.Thr126Ser, NP_001341834.1:p.Thr126Ile

                                      19.

                                      rs1483264315 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C,T [Show Flanks]
                                        Chromosome:
                                        5:112819122 (GRCh38)
                                        5:112154819 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:112819121:G:A,NC_000005.10:112819121:G:C,NC_000005.10:112819121:G:T
                                        Gene:
                                        APC (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.112819122G>A, NC_000005.10:g.112819122G>C, NC_000005.10:g.112819122G>T, NC_000005.9:g.112154819G>A, NC_000005.9:g.112154819G>C, NC_000005.9:g.112154819G>T, NG_008481.4:g.131602G>A, NG_008481.4:g.131602G>C, NG_008481.4:g.131602G>T, NM_000038.6:c.1090G>A, NM_000038.6:c.1090G>C, NM_000038.6:c.1090G>T, NM_000038.5:c.1090G>A, NM_000038.5:c.1090G>C, NM_000038.5:c.1090G>T, NM_001127510.3:c.1090G>A, NM_001127510.3:c.1090G>C, NM_001127510.3:c.1090G>T, NM_001127510.2:c.1090G>A, NM_001127510.2:c.1090G>C, NM_001127510.2:c.1090G>T, NM_001127511.3:c.1036G>A, NM_001127511.3:c.1036G>C, NM_001127511.3:c.1036G>T, NM_001127511.2:c.1036G>A, NM_001127511.2:c.1036G>C, NM_001127511.2:c.1036G>T, NM_001354895.2:c.1090G>A, NM_001354895.2:c.1090G>C, NM_001354895.2:c.1090G>T, NM_001354895.1:c.1090G>A, NM_001354895.1:c.1090G>C, NM_001354895.1:c.1090G>T, NM_001354897.2:c.1120G>A, NM_001354897.2:c.1120G>C, NM_001354897.2:c.1120G>T, NM_001354897.1:c.1120G>A, NM_001354897.1:c.1120G>C, NM_001354897.1:c.1120G>T, NM_001354906.2:c.241G>A, NM_001354906.2:c.241G>C, NM_001354906.2:c.241G>T, NM_001354906.1:c.241G>A, NM_001354906.1:c.241G>C, NM_001354906.1:c.241G>T, NM_001354896.2:c.1090G>A, NM_001354896.2:c.1090G>C, NM_001354896.2:c.1090G>T, NM_001354896.1:c.1090G>A, NM_001354896.1:c.1090G>C, NM_001354896.1:c.1090G>T, NM_001354898.2:c.1015G>A, NM_001354898.2:c.1015G>C, NM_001354898.2:c.1015G>T, NM_001354898.1:c.1015G>A, NM_001354898.1:c.1015G>C, NM_001354898.1:c.1015G>T, NM_001354899.2:c.1006G>A, NM_001354899.2:c.1006G>C, NM_001354899.2:c.1006G>T, NM_001354899.1:c.1006G>A, NM_001354899.1:c.1006G>C, NM_001354899.1:c.1006G>T, NM_001354900.2:c.913G>A, NM_001354900.2:c.913G>C, NM_001354900.2:c.913G>T, NM_001354900.1:c.913G>A, NM_001354900.1:c.913G>C, NM_001354900.1:c.913G>T, NM_001354901.2:c.913G>A, NM_001354901.2:c.913G>C, NM_001354901.2:c.913G>T, NM_001354901.1:c.913G>A, NM_001354901.1:c.913G>C, NM_001354901.1:c.913G>T, NM_001407470.1:c.241G>A, NM_001407470.1:c.241G>C, NM_001407470.1:c.241G>T, NM_001407447.1:c.1090G>A, NM_001407447.1:c.1090G>C, NM_001407447.1:c.1090G>T, NM_001407452.1:c.1006G>A, NM_001407452.1:c.1006G>C, NM_001407452.1:c.1006G>T, NM_001407446.1:c.1120G>A, NM_001407446.1:c.1120G>C, NM_001407446.1:c.1120G>T, NR_176366.1:n.1679G>A, NR_176366.1:n.1679G>C, NR_176366.1:n.1679G>T, NM_001407448.1:c.1090G>A, NM_001407448.1:c.1090G>C, NM_001407448.1:c.1090G>T, NM_001407449.1:c.1090G>A, NM_001407449.1:c.1090G>C, NM_001407449.1:c.1090G>T, NM_001407450.1:c.1090G>A, NM_001407450.1:c.1090G>C, NM_001407450.1:c.1090G>T, NM_001407451.1:c.1015G>A, NM_001407451.1:c.1015G>C, NM_001407451.1:c.1015G>T, NM_001407453.1:c.913G>A, NM_001407453.1:c.913G>C, NM_001407453.1:c.913G>T, NR_176365.1:n.1260G>A, NR_176365.1:n.1260G>C, NR_176365.1:n.1260G>T, NP_000029.2:p.Asp364Asn, NP_000029.2:p.Asp364His, NP_000029.2:p.Asp364Tyr, NP_001120982.1:p.Asp364Asn, NP_001120982.1:p.Asp364His, NP_001120982.1:p.Asp364Tyr, NP_001120983.2:p.Asp346Asn, NP_001120983.2:p.Asp346His, NP_001120983.2:p.Asp346Tyr, NP_001341824.1:p.Asp364Asn, NP_001341824.1:p.Asp364His, NP_001341824.1:p.Asp364Tyr, NP_001341826.1:p.Asp374Asn, NP_001341826.1:p.Asp374His, NP_001341826.1:p.Asp374Tyr, NP_001341835.1:p.Asp81Asn, NP_001341835.1:p.Asp81His, NP_001341835.1:p.Asp81Tyr, NP_001341825.1:p.Asp364Asn, NP_001341825.1:p.Asp364His, NP_001341825.1:p.Asp364Tyr, NP_001341827.1:p.Asp339Asn, NP_001341827.1:p.Asp339His, NP_001341827.1:p.Asp339Tyr, NP_001341828.1:p.Asp336Asn, NP_001341828.1:p.Asp336His, NP_001341828.1:p.Asp336Tyr, NP_001341829.1:p.Asp305Asn, NP_001341829.1:p.Asp305His, NP_001341829.1:p.Asp305Tyr, NP_001341830.1:p.Asp305Asn, NP_001341830.1:p.Asp305His, NP_001341830.1:p.Asp305Tyr

                                        20.

                                        rs1483215684 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          5:112842328 (GRCh38)
                                          5:112178025 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:112842327:C:A,NC_000005.10:112842327:C:G,NC_000005.10:112842327:C:T
                                          Gene:
                                          APC (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000005.10:g.112842328C>A, NC_000005.10:g.112842328C>G, NC_000005.10:g.112842328C>T, NC_000005.9:g.112178025C>A, NC_000005.9:g.112178025C>G, NC_000005.9:g.112178025C>T, NG_008481.4:g.154808C>A, NG_008481.4:g.154808C>G, NG_008481.4:g.154808C>T, NM_000038.6:c.6734C>A, NM_000038.6:c.6734C>G, NM_000038.6:c.6734C>T, NM_000038.5:c.6734C>A, NM_000038.5:c.6734C>G, NM_000038.5:c.6734C>T, NM_001127510.3:c.6734C>A, NM_001127510.3:c.6734C>G, NM_001127510.3:c.6734C>T, NM_001127510.2:c.6734C>A, NM_001127510.2:c.6734C>G, NM_001127510.2:c.6734C>T, NM_001127511.3:c.6680C>A, NM_001127511.3:c.6680C>G, NM_001127511.3:c.6680C>T, NM_001127511.2:c.6680C>A, NM_001127511.2:c.6680C>G, NM_001127511.2:c.6680C>T, NM_001354895.2:c.6734C>A, NM_001354895.2:c.6734C>G, NM_001354895.2:c.6734C>T, NM_001354895.1:c.6734C>A, NM_001354895.1:c.6734C>G, NM_001354895.1:c.6734C>T, NM_001354897.2:c.6764C>A, NM_001354897.2:c.6764C>G, NM_001354897.2:c.6764C>T, NM_001354897.1:c.6764C>A, NM_001354897.1:c.6764C>G, NM_001354897.1:c.6764C>T, NM_001354906.2:c.5885C>A, NM_001354906.2:c.5885C>G, NM_001354906.2:c.5885C>T, NM_001354906.1:c.5885C>A, NM_001354906.1:c.5885C>G, NM_001354906.1:c.5885C>T, NM_001354896.2:c.6788C>A, NM_001354896.2:c.6788C>G, NM_001354896.2:c.6788C>T, NM_001354896.1:c.6788C>A, NM_001354896.1:c.6788C>G, NM_001354896.1:c.6788C>T, NM_001354898.2:c.6659C>A, NM_001354898.2:c.6659C>G, NM_001354898.2:c.6659C>T, NM_001354898.1:c.6659C>A, NM_001354898.1:c.6659C>G, NM_001354898.1:c.6659C>T, NM_001354899.2:c.6650C>A, NM_001354899.2:c.6650C>G, NM_001354899.2:c.6650C>T, NM_001354899.1:c.6650C>A, NM_001354899.1:c.6650C>G, NM_001354899.1:c.6650C>T, NM_001354900.2:c.6611C>A, NM_001354900.2:c.6611C>G, NM_001354900.2:c.6611C>T, NM_001354900.1:c.6611C>A, NM_001354900.1:c.6611C>G, NM_001354900.1:c.6611C>T, NM_001354902.2:c.6461C>A, NM_001354902.2:c.6461C>G, NM_001354902.2:c.6461C>T, NM_001354902.1:c.6461C>A, NM_001354902.1:c.6461C>G, NM_001354902.1:c.6461C>T, NM_001354901.2:c.6557C>A, NM_001354901.2:c.6557C>G, NM_001354901.2:c.6557C>T, NM_001354901.1:c.6557C>A, NM_001354901.1:c.6557C>G, NM_001354901.1:c.6557C>T, NM_001354903.2:c.6431C>A, NM_001354903.2:c.6431C>G, NM_001354903.2:c.6431C>T, NM_001354903.1:c.6431C>A, NM_001354903.1:c.6431C>G, NM_001354903.1:c.6431C>T, NM_001354904.2:c.6356C>A, NM_001354904.2:c.6356C>G, NM_001354904.2:c.6356C>T, NM_001354904.1:c.6356C>A, NM_001354904.1:c.6356C>G, NM_001354904.1:c.6356C>T, NM_001354905.2:c.6254C>A, NM_001354905.2:c.6254C>G, NM_001354905.2:c.6254C>T, NM_001354905.1:c.6254C>A, NM_001354905.1:c.6254C>G, NM_001354905.1:c.6254C>T, NM_001407470.1:c.5885C>A, NM_001407470.1:c.5885C>G, NM_001407470.1:c.5885C>T, NM_001407447.1:c.6788C>A, NM_001407447.1:c.6788C>G, NM_001407447.1:c.6788C>T, NM_001407452.1:c.6704C>A, NM_001407452.1:c.6704C>G, NM_001407452.1:c.6704C>T, NM_001407446.1:c.6818C>A, NM_001407446.1:c.6818C>G, NM_001407446.1:c.6818C>T, NM_001407472.1:c.5582C>A, NM_001407472.1:c.5582C>G, NM_001407472.1:c.5582C>T, NR_176366.1:n.6988C>A, NR_176366.1:n.6988C>G, NR_176366.1:n.6988C>T, NM_001407448.1:c.6788C>A, NM_001407448.1:c.6788C>G, NM_001407448.1:c.6788C>T, NM_001407449.1:c.6788C>A, NM_001407449.1:c.6788C>G, NM_001407449.1:c.6788C>T, NM_001407450.1:c.6734C>A, NM_001407450.1:c.6734C>G, NM_001407450.1:c.6734C>T, NM_001407456.1:c.6485C>A, NM_001407456.1:c.6485C>G, NM_001407456.1:c.6485C>T, NM_001407460.1:c.6431C>A, NM_001407460.1:c.6431C>G, NM_001407460.1:c.6431C>T, NM_001407451.1:c.6713C>A, NM_001407451.1:c.6713C>G, NM_001407451.1:c.6713C>T, NM_001407453.1:c.6557C>A, NM_001407453.1:c.6557C>G, NM_001407453.1:c.6557C>T, NM_001407469.1:c.6347C>A, NM_001407469.1:c.6347C>G, NM_001407469.1:c.6347C>T, NM_001407471.1:c.5582C>A, NM_001407471.1:c.5582C>G, NM_001407471.1:c.5582C>T, NM_001407457.1:c.6485C>A, NM_001407457.1:c.6485C>G, NM_001407457.1:c.6485C>T, NM_001407455.1:c.6485C>A, NM_001407455.1:c.6485C>G, NM_001407455.1:c.6485C>T, NM_001407458.1:c.6431C>A, NM_001407458.1:c.6431C>G, NM_001407458.1:c.6431C>T, NM_001407459.1:c.6431C>A, NM_001407459.1:c.6431C>G, NM_001407459.1:c.6431C>T, NR_176365.1:n.6569C>A, NR_176365.1:n.6569C>G, NR_176365.1:n.6569C>T, NM_001407454.1:c.6485C>A, NM_001407454.1:c.6485C>G, NM_001407454.1:c.6485C>T, NM_001407467.1:c.6347C>A, NM_001407467.1:c.6347C>G, NM_001407467.1:c.6347C>T, NP_000029.2:p.Pro2245His, NP_000029.2:p.Pro2245Arg, NP_000029.2:p.Pro2245Leu, NP_001120982.1:p.Pro2245His, NP_001120982.1:p.Pro2245Arg, NP_001120982.1:p.Pro2245Leu, NP_001120983.2:p.Pro2227His, NP_001120983.2:p.Pro2227Arg, NP_001120983.2:p.Pro2227Leu, NP_001341824.1:p.Pro2245His, NP_001341824.1:p.Pro2245Arg, NP_001341824.1:p.Pro2245Leu, NP_001341826.1:p.Pro2255His, NP_001341826.1:p.Pro2255Arg, NP_001341826.1:p.Pro2255Leu, NP_001341835.1:p.Pro1962His, NP_001341835.1:p.Pro1962Arg, NP_001341835.1:p.Pro1962Leu, NP_001341825.1:p.Pro2263His, NP_001341825.1:p.Pro2263Arg, NP_001341825.1:p.Pro2263Leu, NP_001341827.1:p.Pro2220His, NP_001341827.1:p.Pro2220Arg, NP_001341827.1:p.Pro2220Leu, NP_001341828.1:p.Pro2217His, NP_001341828.1:p.Pro2217Arg, NP_001341828.1:p.Pro2217Leu, NP_001341829.1:p.Pro2204His, NP_001341829.1:p.Pro2204Arg, NP_001341829.1:p.Pro2204Leu, NP_001341831.1:p.Pro2154His, NP_001341831.1:p.Pro2154Arg, NP_001341831.1:p.Pro2154Leu, NP_001341830.1:p.Pro2186His, NP_001341830.1:p.Pro2186Arg, NP_001341830.1:p.Pro2186Leu, NP_001341832.1:p.Pro2144His, NP_001341832.1:p.Pro2144Arg, NP_001341832.1:p.Pro2144Leu, NP_001341833.1:p.Pro2119His, NP_001341833.1:p.Pro2119Arg, NP_001341833.1:p.Pro2119Leu, NP_001341834.1:p.Pro2085His, NP_001341834.1:p.Pro2085Arg, NP_001341834.1:p.Pro2085Leu

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