UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112843727T>A | CA446211198 | APC | c.8187T>A (p.Val2729=) c.*8139T>A (n.*8139T>A) c.8079T>A (p.Val2693=) c.8133T>A (p.Val2711=) c.231-12922T>A c.8163T>A (p.Val2721=) c.8058T>A (p.Val2686=) c.8049T>A (p.Val2683=) c.8010T>A (p.Val2670=) c.7956T>A (p.Val2652=) c.7860T>A (p.Val2620=) c.7830T>A (p.Val2610=) c.7755T>A (p.Val2585=) c.7653T>A (p.Val2551=) c.7284T>A (p.Val2428=) | |
| 5 | g.112843727T>C | CA446211199 | APC | c.8187T>C (p.Val2729=) c.*8139T>C (n.*8139T>C) c.8079T>C (p.Val2693=) c.8133T>C (p.Val2711=) c.231-12922T>C c.8163T>C (p.Val2721=) c.8058T>C (p.Val2686=) c.8049T>C (p.Val2683=) c.8010T>C (p.Val2670=) c.7956T>C (p.Val2652=) c.7860T>C (p.Val2620=) c.7830T>C (p.Val2610=) c.7755T>C (p.Val2585=) c.7653T>C (p.Val2551=) c.7284T>C (p.Val2428=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843727T>G | CA446211201 | APC | c.8187T>G (p.Val2729=) c.*8139T>G (n.*8139T>G) c.8079T>G (p.Val2693=) c.8133T>G (p.Val2711=) c.231-12922T>G c.8163T>G (p.Val2721=) c.8058T>G (p.Val2686=) c.8049T>G (p.Val2683=) c.8010T>G (p.Val2670=) c.7956T>G (p.Val2652=) c.7860T>G (p.Val2620=) c.7830T>G (p.Val2610=) c.7755T>G (p.Val2585=) c.7653T>G (p.Val2551=) c.7284T>G (p.Val2428=) | |
| 5 | g.112843727T= | CA1573476286 | APC | c.8187T= (p.Val2729=) c.*8139T= (n.*8139T=) c.8079T= (p.Val2693=) c.8133T= (p.Val2711=) c.231-12922T= c.8163T= (p.Val2721=) c.8058T= (p.Val2686=) c.8049T= (p.Val2683=) c.8010T= (p.Val2670=) c.7956T= (p.Val2652=) c.7860T= (p.Val2620=) c.7830T= (p.Val2610=) c.7755T= (p.Val2585=) c.7653T= (p.Val2551=) c.7284T= (p.Val2428=) | |
| 5 | g.112843728C>A | CA16038998 | APC | c.8188C>A (p.Pro2730Thr) c.*8140C>A (n.*8140C>A) c.8080C>A (p.Pro2694Thr) c.8134C>A (p.Pro2712Thr) c.231-12921C>A c.8164C>A (p.Pro2722Thr) c.8059C>A (p.Pro2687Thr) c.8050C>A (p.Pro2684Thr) c.8011C>A (p.Pro2671Thr) c.7957C>A (p.Pro2653Thr) c.7861C>A (p.Pro2621Thr) c.7831C>A (p.Pro2611Thr) c.7756C>A (p.Pro2586Thr) c.7654C>A (p.Pro2552Thr) c.7285C>A (p.Pro2429Thr) | dbSNP |
| 5 | g.112843728C= | CA1573476292 | APC | c.8188C= (p.Pro2730=) c.*8140C= (n.*8140C=) c.8080C= (p.Pro2694=) c.8134C= (p.Pro2712=) c.231-12921C= c.8164C= (p.Pro2722=) c.8059C= (p.Pro2687=) c.8050C= (p.Pro2684=) c.8011C= (p.Pro2671=) c.7957C= (p.Pro2653=) c.7861C= (p.Pro2621=) c.7831C= (p.Pro2611=) c.7756C= (p.Pro2586=) c.7654C= (p.Pro2552=) c.7285C= (p.Pro2429=) | |
| 5 | g.112843728C>G | CA049967 | APC | c.8188C>G (p.Pro2730Ala) c.*8140C>G (n.*8140C>G) c.8080C>G (p.Pro2694Ala) c.8134C>G (p.Pro2712Ala) c.231-12921C>G c.8164C>G (p.Pro2722Ala) c.8059C>G (p.Pro2687Ala) c.8050C>G (p.Pro2684Ala) c.8011C>G (p.Pro2671Ala) c.7957C>G (p.Pro2653Ala) c.7861C>G (p.Pro2621Ala) c.7831C>G (p.Pro2611Ala) c.7756C>G (p.Pro2586Ala) c.7654C>G (p.Pro2552Ala) c.7285C>G (p.Pro2429Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843728C>T | CA014364 | APC | c.8188C>T (p.Pro2730Ser) c.*8140C>T (n.*8140C>T) c.8080C>T (p.Pro2694Ser) c.8134C>T (p.Pro2712Ser) c.231-12921C>T c.8164C>T (p.Pro2722Ser) c.8059C>T (p.Pro2687Ser) c.8050C>T (p.Pro2684Ser) c.8011C>T (p.Pro2671Ser) c.7957C>T (p.Pro2653Ser) c.7861C>T (p.Pro2621Ser) c.7831C>T (p.Pro2611Ser) c.7756C>T (p.Pro2586Ser) c.7654C>T (p.Pro2552Ser) c.7285C>T (p.Pro2429Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112843730del | CA2580610693 | APC | c.8190del (p.Met2731CysfsTer10) c.*8142del (n.*8142del) c.8082del (p.Met2695CysfsTer10) c.8136del (p.Met2713CysfsTer10) c.231-12919del c.8166del (p.Met2723CysfsTer10) c.8061del (p.Met2688CysfsTer10) c.8052del (p.Met2685CysfsTer10) c.8013del (p.Met2672CysfsTer10) c.7959del (p.Met2654CysfsTer10) c.7863del (p.Met2622CysfsTer10) c.7833del (p.Met2612CysfsTer10) c.7758del (p.Met2587CysfsTer10) c.7656del (p.Met2553CysfsTer10) c.7287del (p.Met2430CysfsTer10) | |
| 5 | g.112843729C>A | CA16038999 | APC | c.8189C>A (p.Pro2730His) c.*8141C>A (n.*8141C>A) c.8081C>A (p.Pro2694His) c.8135C>A (p.Pro2712His) c.231-12920C>A c.8165C>A (p.Pro2722His) c.8060C>A (p.Pro2687His) c.8051C>A (p.Pro2684His) c.8012C>A (p.Pro2671His) c.7958C>A (p.Pro2653His) c.7862C>A (p.Pro2621His) c.7832C>A (p.Pro2611His) c.7757C>A (p.Pro2586His) c.7655C>A (p.Pro2552His) c.7286C>A (p.Pro2429His) | dbSNP |
| 5 | g.112843729C= | CA1573476297 | APC | c.8189C= (p.Pro2730=) c.*8141C= (n.*8141C=) c.8081C= (p.Pro2694=) c.8135C= (p.Pro2712=) c.231-12920C= c.8165C= (p.Pro2722=) c.8060C= (p.Pro2687=) c.8051C= (p.Pro2684=) c.8012C= (p.Pro2671=) c.7958C= (p.Pro2653=) c.7862C= (p.Pro2621=) c.7832C= (p.Pro2611=) c.7757C= (p.Pro2586=) c.7655C= (p.Pro2552=) c.7286C= (p.Pro2429=) | |
| 5 | g.112843729C>G | CA16039000 | APC | c.8189C>G (p.Pro2730Arg) c.*8141C>G (n.*8141C>G) c.8081C>G (p.Pro2694Arg) c.8135C>G (p.Pro2712Arg) c.231-12920C>G c.8165C>G (p.Pro2722Arg) c.8060C>G (p.Pro2687Arg) c.8051C>G (p.Pro2684Arg) c.8012C>G (p.Pro2671Arg) c.7958C>G (p.Pro2653Arg) c.7862C>G (p.Pro2621Arg) c.7832C>G (p.Pro2611Arg) c.7757C>G (p.Pro2586Arg) c.7655C>G (p.Pro2552Arg) c.7286C>G (p.Pro2429Arg) | dbSNP |
| 5 | g.112843729C>T | CA16039001 | APC | c.8189C>T (p.Pro2730Leu) c.*8141C>T (n.*8141C>T) c.8081C>T (p.Pro2694Leu) c.8135C>T (p.Pro2712Leu) c.231-12920C>T c.8165C>T (p.Pro2722Leu) c.8060C>T (p.Pro2687Leu) c.8051C>T (p.Pro2684Leu) c.8012C>T (p.Pro2671Leu) c.7958C>T (p.Pro2653Leu) c.7862C>T (p.Pro2621Leu) c.7832C>T (p.Pro2611Leu) c.7757C>T (p.Pro2586Leu) c.7655C>T (p.Pro2552Leu) c.7286C>T (p.Pro2429Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843730C>A | CA446211203 | APC | c.8190C>A (p.Pro2730=) c.*8142C>A (n.*8142C>A) c.8082C>A (p.Pro2694=) c.8136C>A (p.Pro2712=) c.231-12919C>A c.8166C>A (p.Pro2722=) c.8061C>A (p.Pro2687=) c.8052C>A (p.Pro2684=) c.8013C>A (p.Pro2671=) c.7959C>A (p.Pro2653=) c.7863C>A (p.Pro2621=) c.7833C>A (p.Pro2611=) c.7758C>A (p.Pro2586=) c.7656C>A (p.Pro2552=) c.7287C>A (p.Pro2429=) | dbSNP |
| 5 | g.112843730C>G | CA446211204 | APC | c.8190C>G (p.Pro2730=) c.*8142C>G (n.*8142C>G) c.8082C>G (p.Pro2694=) c.8136C>G (p.Pro2712=) c.231-12919C>G c.8166C>G (p.Pro2722=) c.8061C>G (p.Pro2687=) c.8052C>G (p.Pro2684=) c.8013C>G (p.Pro2671=) c.7959C>G (p.Pro2653=) c.7863C>G (p.Pro2621=) c.7833C>G (p.Pro2611=) c.7758C>G (p.Pro2586=) c.7656C>G (p.Pro2552=) c.7287C>G (p.Pro2429=) | dbSNP |
| 5 | g.112843730C>T | CA446211205 | APC | c.8190C>T (p.Pro2730=) c.*8142C>T (n.*8142C>T) c.8082C>T (p.Pro2694=) c.8136C>T (p.Pro2712=) c.231-12919C>T c.8166C>T (p.Pro2722=) c.8061C>T (p.Pro2687=) c.8052C>T (p.Pro2684=) c.8013C>T (p.Pro2671=) c.7959C>T (p.Pro2653=) c.7863C>T (p.Pro2621=) c.7833C>T (p.Pro2611=) c.7758C>T (p.Pro2586=) c.7656C>T (p.Pro2552=) c.7287C>T (p.Pro2429=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843731A= | CA1573476320 | APC | c.8191A= (p.Met2731=) c.*8143A= (n.*8143A=) c.8083A= (p.Met2695=) c.8137A= (p.Met2713=) c.231-12918A= c.8167A= (p.Met2723=) c.8062A= (p.Met2688=) c.8053A= (p.Met2685=) c.8014A= (p.Met2672=) c.7960A= (p.Met2654=) c.7864A= (p.Met2622=) c.7834A= (p.Met2612=) c.7759A= (p.Met2587=) c.7657A= (p.Met2553=) c.7288A= (p.Met2430=) | |
| 5 | g.112843731A>C | CA014373 | APC | c.8191A>C (p.Met2731Leu) c.*8143A>C (n.*8143A>C) c.8083A>C (p.Met2695Leu) c.8137A>C (p.Met2713Leu) c.231-12918A>C c.8167A>C (p.Met2723Leu) c.8062A>C (p.Met2688Leu) c.8053A>C (p.Met2685Leu) c.8014A>C (p.Met2672Leu) c.7960A>C (p.Met2654Leu) c.7864A>C (p.Met2622Leu) c.7834A>C (p.Met2612Leu) c.7759A>C (p.Met2587Leu) c.7657A>C (p.Met2553Leu) c.7288A>C (p.Met2430Leu) | ClinVar dbSNP |
| 5 | g.112843731A>G | CA16039002 | APC | c.8191A>G (p.Met2731Val) c.*8143A>G (n.*8143A>G) c.8083A>G (p.Met2695Val) c.8137A>G (p.Met2713Val) c.231-12918A>G c.8167A>G (p.Met2723Val) c.8062A>G (p.Met2688Val) c.8053A>G (p.Met2685Val) c.8014A>G (p.Met2672Val) c.7960A>G (p.Met2654Val) c.7864A>G (p.Met2622Val) c.7834A>G (p.Met2612Val) c.7759A>G (p.Met2587Val) c.7657A>G (p.Met2553Val) c.7288A>G (p.Met2430Val) | ClinVar dbSNP |
| 5 | g.112843731A>T | CA16039003 | APC | c.8191A>T (p.Met2731Leu) c.*8143A>T (n.*8143A>T) c.8083A>T (p.Met2695Leu) c.8137A>T (p.Met2713Leu) c.231-12918A>T c.8167A>T (p.Met2723Leu) c.8062A>T (p.Met2688Leu) c.8053A>T (p.Met2685Leu) c.8014A>T (p.Met2672Leu) c.7960A>T (p.Met2654Leu) c.7864A>T (p.Met2622Leu) c.7834A>T (p.Met2612Leu) c.7759A>T (p.Met2587Leu) c.7657A>T (p.Met2553Leu) c.7288A>T (p.Met2430Leu) | dbSNP gnomAD v4 |
| 5 | g.112843732T>A | CA16039004 | APC | c.8192T>A (p.Met2731Lys) c.*8144T>A (n.*8144T>A) c.8084T>A (p.Met2695Lys) c.8138T>A (p.Met2713Lys) c.231-12917T>A c.8168T>A (p.Met2723Lys) c.8063T>A (p.Met2688Lys) c.8054T>A (p.Met2685Lys) c.8015T>A (p.Met2672Lys) c.7961T>A (p.Met2654Lys) c.7865T>A (p.Met2622Lys) c.7835T>A (p.Met2612Lys) c.7760T>A (p.Met2587Lys) c.7658T>A (p.Met2553Lys) c.7289T>A (p.Met2430Lys) | dbSNP |
| 5 | g.112843732T>C | CA16039005 | APC | c.8192T>C (p.Met2731Thr) c.*8144T>C (n.*8144T>C) c.8084T>C (p.Met2695Thr) c.8138T>C (p.Met2713Thr) c.231-12917T>C c.8168T>C (p.Met2723Thr) c.8063T>C (p.Met2688Thr) c.8054T>C (p.Met2685Thr) c.8015T>C (p.Met2672Thr) c.7961T>C (p.Met2654Thr) c.7865T>C (p.Met2622Thr) c.7835T>C (p.Met2612Thr) c.7760T>C (p.Met2587Thr) c.7658T>C (p.Met2553Thr) c.7289T>C (p.Met2430Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843732T>G | CA16039006 | APC | c.8192T>G (p.Met2731Arg) c.*8144T>G (n.*8144T>G) c.8084T>G (p.Met2695Arg) c.8138T>G (p.Met2713Arg) c.231-12917T>G c.8168T>G (p.Met2723Arg) c.8063T>G (p.Met2688Arg) c.8054T>G (p.Met2685Arg) c.8015T>G (p.Met2672Arg) c.7961T>G (p.Met2654Arg) c.7865T>G (p.Met2622Arg) c.7835T>G (p.Met2612Arg) c.7760T>G (p.Met2587Arg) c.7658T>G (p.Met2553Arg) c.7289T>G (p.Met2430Arg) | ClinVar dbSNP |
| 5 | g.112843732T= | CA1573476326 | APC | c.8192T= (p.Met2731=) c.*8144T= (n.*8144T=) c.8084T= (p.Met2695=) c.8138T= (p.Met2713=) c.231-12917T= c.8168T= (p.Met2723=) c.8063T= (p.Met2688=) c.8054T= (p.Met2685=) c.8015T= (p.Met2672=) c.7961T= (p.Met2654=) c.7865T= (p.Met2622=) c.7835T= (p.Met2612=) c.7760T= (p.Met2587=) c.7658T= (p.Met2553=) c.7289T= (p.Met2430=) | |
| 5 | g.112843732_112843734delinsTGC | CA1573476327 | APC | c.8192_8194delinsTGC (p.Met2731=) c.*8144_*8146delinsTGC (n.*8144_*8146delinsTGC) c.8084_8086delinsTGC (p.Met2695=) c.8138_8140delinsTGC (p.Met2713=) c.231-12917_231-12915delinsTGC c.8168_8170delinsTGC (p.Met2723=) c.8063_8065delinsTGC (p.Met2688=) c.8054_8056delinsTGC (p.Met2685=) c.8015_8017delinsTGC (p.Met2672=) c.7961_7963delinsTGC (p.Met2654=) c.7865_7867delinsTGC (p.Met2622=) c.7835_7837delinsTGC (p.Met2612=) c.7760_7762delinsTGC (p.Met2587=) c.7658_7660delinsTGC (p.Met2553=) c.7289_7291delinsTGC (p.Met2430=) | |
| 5 | g.112843733G>A | CA16039007 | APC | c.8193G>A (p.Met2731Ile) c.*8145G>A (n.*8145G>A) c.8085G>A (p.Met2695Ile) c.8139G>A (p.Met2713Ile) c.231-12916G>A c.8169G>A (p.Met2723Ile) c.8064G>A (p.Met2688Ile) c.8055G>A (p.Met2685Ile) c.8016G>A (p.Met2672Ile) c.7962G>A (p.Met2654Ile) c.7866G>A (p.Met2622Ile) c.7836G>A (p.Met2612Ile) c.7761G>A (p.Met2587Ile) c.7659G>A (p.Met2553Ile) c.7290G>A (p.Met2430Ile) | ClinVar dbSNP |
| 5 | g.112843733G>C | CA16039008 | APC | c.8193G>C (p.Met2731Ile) c.*8145G>C (n.*8145G>C) c.8085G>C (p.Met2695Ile) c.8139G>C (p.Met2713Ile) c.231-12916G>C c.8169G>C (p.Met2723Ile) c.8064G>C (p.Met2688Ile) c.8055G>C (p.Met2685Ile) c.8016G>C (p.Met2672Ile) c.7962G>C (p.Met2654Ile) c.7866G>C (p.Met2622Ile) c.7836G>C (p.Met2612Ile) c.7761G>C (p.Met2587Ile) c.7659G>C (p.Met2553Ile) c.7290G>C (p.Met2430Ile) | dbSNP |
| 5 | g.112843733G= | CA1573476362 | APC | c.8193G= (p.Met2731=) c.*8145G= (n.*8145G=) c.8085G= (p.Met2695=) c.8139G= (p.Met2713=) c.231-12916G= c.8169G= (p.Met2723=) c.8064G= (p.Met2688=) c.8055G= (p.Met2685=) c.8016G= (p.Met2672=) c.7962G= (p.Met2654=) c.7866G= (p.Met2622=) c.7836G= (p.Met2612=) c.7761G= (p.Met2587=) c.7659G= (p.Met2553=) c.7290G= (p.Met2430=) | |
| 5 | g.112843733G>T | CA16039009 | APC | c.8193G>T (p.Met2731Ile) c.*8145G>T (n.*8145G>T) c.8085G>T (p.Met2695Ile) c.8139G>T (p.Met2713Ile) c.231-12916G>T c.8169G>T (p.Met2723Ile) c.8064G>T (p.Met2688Ile) c.8055G>T (p.Met2685Ile) c.8016G>T (p.Met2672Ile) c.7962G>T (p.Met2654Ile) c.7866G>T (p.Met2622Ile) c.7836G>T (p.Met2612Ile) c.7761G>T (p.Met2587Ile) c.7659G>T (p.Met2553Ile) c.7290G>T (p.Met2430Ile) | ClinVar dbSNP |
| 5 | g.112843734_112843735del | CA891843091 | APC | c.8194_8195del (p.Arg2732TyrfsTer18) c.*8146_*8147del (n.*8146_*8147del) c.8086_8087del (p.Arg2696TyrfsTer18) c.8140_8141del (p.Arg2714TyrfsTer18) c.231-12915_231-12914del c.8170_8171del (p.Arg2724TyrfsTer18) c.8065_8066del (p.Arg2689TyrfsTer18) c.8056_8057del (p.Arg2686TyrfsTer18) c.8017_8018del (p.Arg2673TyrfsTer18) c.7963_7964del (p.Arg2655TyrfsTer18) c.7867_7868del (p.Arg2623TyrfsTer18) c.7837_7838del (p.Arg2613TyrfsTer18) c.7762_7763del (p.Arg2588TyrfsTer18) c.7660_7661del (p.Arg2554TyrfsTer18) c.7291_7292del (p.Arg2431TyrfsTer18) | ClinVar dbSNP |
| 5 | g.112843734C>A | CA349337 | APC | c.8194C>A (p.Arg2732Ser) c.*8146C>A (n.*8146C>A) c.8086C>A (p.Arg2696Ser) c.8140C>A (p.Arg2714Ser) c.231-12915C>A c.8170C>A (p.Arg2724Ser) c.8065C>A (p.Arg2689Ser) c.8056C>A (p.Arg2686Ser) c.8017C>A (p.Arg2673Ser) c.7963C>A (p.Arg2655Ser) c.7867C>A (p.Arg2623Ser) c.7837C>A (p.Arg2613Ser) c.7762C>A (p.Arg2588Ser) c.7660C>A (p.Arg2554Ser) c.7291C>A (p.Arg2431Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843734C= | CA1573476369 | APC | c.8194C= (p.Arg2732=) c.*8146C= (n.*8146C=) c.8086C= (p.Arg2696=) c.8140C= (p.Arg2714=) c.231-12915C= c.8170C= (p.Arg2724=) c.8065C= (p.Arg2689=) c.8056C= (p.Arg2686=) c.8017C= (p.Arg2673=) c.7963C= (p.Arg2655=) c.7867C= (p.Arg2623=) c.7837C= (p.Arg2613=) c.7762C= (p.Arg2588=) c.7660C= (p.Arg2554=) c.7291C= (p.Arg2431=) | |
| 5 | g.112843734C>G | CA16039010 | APC | c.8194C>G (p.Arg2732Gly) c.*8146C>G (n.*8146C>G) c.8086C>G (p.Arg2696Gly) c.8140C>G (p.Arg2714Gly) c.231-12915C>G c.8170C>G (p.Arg2724Gly) c.8065C>G (p.Arg2689Gly) c.8056C>G (p.Arg2686Gly) c.8017C>G (p.Arg2673Gly) c.7963C>G (p.Arg2655Gly) c.7867C>G (p.Arg2623Gly) c.7837C>G (p.Arg2613Gly) c.7762C>G (p.Arg2588Gly) c.7660C>G (p.Arg2554Gly) c.7291C>G (p.Arg2431Gly) | ClinVar dbSNP |
| 5 | g.112843734C>T | CA10578457 | APC | c.8194C>T (p.Arg2732Cys) c.*8146C>T (n.*8146C>T) c.8086C>T (p.Arg2696Cys) c.8140C>T (p.Arg2714Cys) c.231-12915C>T c.8170C>T (p.Arg2724Cys) c.8065C>T (p.Arg2689Cys) c.8056C>T (p.Arg2686Cys) c.8017C>T (p.Arg2673Cys) c.7963C>T (p.Arg2655Cys) c.7867C>T (p.Arg2623Cys) c.7837C>T (p.Arg2613Cys) c.7762C>T (p.Arg2588Cys) c.7660C>T (p.Arg2554Cys) c.7291C>T (p.Arg2431Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112843735G>A | CA049981 | APC | c.8195G>A (p.Arg2732His) c.*8147G>A (n.*8147G>A) c.8087G>A (p.Arg2696His) c.8141G>A (p.Arg2714His) c.231-12914G>A c.8171G>A (p.Arg2724His) c.8066G>A (p.Arg2689His) c.8057G>A (p.Arg2686His) c.8018G>A (p.Arg2673His) c.7964G>A (p.Arg2655His) c.7868G>A (p.Arg2623His) c.7838G>A (p.Arg2613His) c.7763G>A (p.Arg2588His) c.7661G>A (p.Arg2554His) c.7292G>A (p.Arg2431His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112843735G>C | CA16039011 | APC | c.8195G>C (p.Arg2732Pro) c.*8147G>C (n.*8147G>C) c.8087G>C (p.Arg2696Pro) c.8141G>C (p.Arg2714Pro) c.231-12914G>C c.8171G>C (p.Arg2724Pro) c.8066G>C (p.Arg2689Pro) c.8057G>C (p.Arg2686Pro) c.8018G>C (p.Arg2673Pro) c.7964G>C (p.Arg2655Pro) c.7868G>C (p.Arg2623Pro) c.7838G>C (p.Arg2613Pro) c.7763G>C (p.Arg2588Pro) c.7661G>C (p.Arg2554Pro) c.7292G>C (p.Arg2431Pro) | dbSNP gnomAD v4 |
| 5 | g.112843735G= | CA1573476388 | APC | c.8195G= (p.Arg2732=) c.*8147G= (n.*8147G=) c.8087G= (p.Arg2696=) c.8141G= (p.Arg2714=) c.231-12914G= c.8171G= (p.Arg2724=) c.8066G= (p.Arg2689=) c.8057G= (p.Arg2686=) c.8018G= (p.Arg2673=) c.7964G= (p.Arg2655=) c.7868G= (p.Arg2623=) c.7838G= (p.Arg2613=) c.7763G= (p.Arg2588=) c.7661G= (p.Arg2554=) c.7292G= (p.Arg2431=) | |
| 5 | g.112843735G>T | CA16039012 | APC | c.8195G>T (p.Arg2732Leu) c.*8147G>T (n.*8147G>T) c.8087G>T (p.Arg2696Leu) c.8141G>T (p.Arg2714Leu) c.231-12914G>T c.8171G>T (p.Arg2724Leu) c.8066G>T (p.Arg2689Leu) c.8057G>T (p.Arg2686Leu) c.8018G>T (p.Arg2673Leu) c.7964G>T (p.Arg2655Leu) c.7868G>T (p.Arg2623Leu) c.7838G>T (p.Arg2613Leu) c.7763G>T (p.Arg2588Leu) c.7661G>T (p.Arg2554Leu) c.7292G>T (p.Arg2431Leu) | dbSNP |
| 5 | g.112843736T>A | CA446211210 | APC | c.8196T>A (p.Arg2732=) c.*8148T>A (n.*8148T>A) c.8088T>A (p.Arg2696=) c.8142T>A (p.Arg2714=) c.231-12913T>A c.8172T>A (p.Arg2724=) c.8067T>A (p.Arg2689=) c.8058T>A (p.Arg2686=) c.8019T>A (p.Arg2673=) c.7965T>A (p.Arg2655=) c.7869T>A (p.Arg2623=) c.7839T>A (p.Arg2613=) c.7764T>A (p.Arg2588=) c.7662T>A (p.Arg2554=) c.7293T>A (p.Arg2431=) | dbSNP |
| 5 | g.112843736T>C | CA446211211 | APC | c.8196T>C (p.Arg2732=) c.*8148T>C (n.*8148T>C) c.8088T>C (p.Arg2696=) c.8142T>C (p.Arg2714=) c.231-12913T>C c.8172T>C (p.Arg2724=) c.8067T>C (p.Arg2689=) c.8058T>C (p.Arg2686=) c.8019T>C (p.Arg2673=) c.7965T>C (p.Arg2655=) c.7869T>C (p.Arg2623=) c.7839T>C (p.Arg2613=) c.7764T>C (p.Arg2588=) c.7662T>C (p.Arg2554=) c.7293T>C (p.Arg2431=) | dbSNP |
| 5 | g.112843736T>G | CA446211209 | APC | c.8196T>G (p.Arg2732=) c.*8148T>G (n.*8148T>G) c.8088T>G (p.Arg2696=) c.8142T>G (p.Arg2714=) c.231-12913T>G c.8172T>G (p.Arg2724=) c.8067T>G (p.Arg2689=) c.8058T>G (p.Arg2686=) c.8019T>G (p.Arg2673=) c.7965T>G (p.Arg2655=) c.7869T>G (p.Arg2623=) c.7839T>G (p.Arg2613=) c.7764T>G (p.Arg2588=) c.7662T>G (p.Arg2554=) c.7293T>G (p.Arg2431=) | dbSNP |
| 5 | g.112843737A= | CA1573476416 | APC | c.8197A= (p.Thr2733=) c.*8149A= (n.*8149A=) c.8089A= (p.Thr2697=) c.8143A= (p.Thr2715=) c.231-12912A= c.8173A= (p.Thr2725=) c.8068A= (p.Thr2690=) c.8059A= (p.Thr2687=) c.8020A= (p.Thr2674=) c.7966A= (p.Thr2656=) c.7870A= (p.Thr2624=) c.7840A= (p.Thr2614=) c.7765A= (p.Thr2589=) c.7663A= (p.Thr2555=) c.7294A= (p.Thr2432=) | |
| 5 | g.112843737A>C | CA16039013 | APC | c.8197A>C (p.Thr2733Pro) c.*8149A>C (n.*8149A>C) c.8089A>C (p.Thr2697Pro) c.8143A>C (p.Thr2715Pro) c.231-12912A>C c.8173A>C (p.Thr2725Pro) c.8068A>C (p.Thr2690Pro) c.8059A>C (p.Thr2687Pro) c.8020A>C (p.Thr2674Pro) c.7966A>C (p.Thr2656Pro) c.7870A>C (p.Thr2624Pro) c.7840A>C (p.Thr2614Pro) c.7765A>C (p.Thr2589Pro) c.7663A>C (p.Thr2555Pro) c.7294A>C (p.Thr2432Pro) | dbSNP gnomAD v4 |
| 5 | g.112843737A>G | CA16039014 | APC | c.8197A>G (p.Thr2733Ala) c.*8149A>G (n.*8149A>G) c.8089A>G (p.Thr2697Ala) c.8143A>G (p.Thr2715Ala) c.231-12912A>G c.8173A>G (p.Thr2725Ala) c.8068A>G (p.Thr2690Ala) c.8059A>G (p.Thr2687Ala) c.8020A>G (p.Thr2674Ala) c.7966A>G (p.Thr2656Ala) c.7870A>G (p.Thr2624Ala) c.7840A>G (p.Thr2614Ala) c.7765A>G (p.Thr2589Ala) c.7663A>G (p.Thr2555Ala) c.7294A>G (p.Thr2432Ala) | ClinVar dbSNP |
| 5 | g.112843737A>T | CA16039015 | APC | c.8197A>T (p.Thr2733Ser) c.*8149A>T (n.*8149A>T) c.8089A>T (p.Thr2697Ser) c.8143A>T (p.Thr2715Ser) c.231-12912A>T c.8173A>T (p.Thr2725Ser) c.8068A>T (p.Thr2690Ser) c.8059A>T (p.Thr2687Ser) c.8020A>T (p.Thr2674Ser) c.7966A>T (p.Thr2656Ser) c.7870A>T (p.Thr2624Ser) c.7840A>T (p.Thr2614Ser) c.7765A>T (p.Thr2589Ser) c.7663A>T (p.Thr2555Ser) c.7294A>T (p.Thr2432Ser) | |
| 5 | g.112843738C>A | CA16039016 | APC | c.8198C>A (p.Thr2733Asn) c.*8150C>A (n.*8150C>A) c.8090C>A (p.Thr2697Asn) c.8144C>A (p.Thr2715Asn) c.231-12911C>A c.8174C>A (p.Thr2725Asn) c.8069C>A (p.Thr2690Asn) c.8060C>A (p.Thr2687Asn) c.8021C>A (p.Thr2674Asn) c.7967C>A (p.Thr2656Asn) c.7871C>A (p.Thr2624Asn) c.7841C>A (p.Thr2614Asn) c.7766C>A (p.Thr2589Asn) c.7664C>A (p.Thr2555Asn) c.7295C>A (p.Thr2432Asn) | dbSNP |
| 5 | g.112843738C= | CA1573476420 | APC | c.8198C= (p.Thr2733=) c.*8150C= (n.*8150C=) c.8090C= (p.Thr2697=) c.8144C= (p.Thr2715=) c.231-12911C= c.8174C= (p.Thr2725=) c.8069C= (p.Thr2690=) c.8060C= (p.Thr2687=) c.8021C= (p.Thr2674=) c.7967C= (p.Thr2656=) c.7871C= (p.Thr2624=) c.7841C= (p.Thr2614=) c.7766C= (p.Thr2589=) c.7664C= (p.Thr2555=) c.7295C= (p.Thr2432=) | |
| 5 | g.112843738C>G | CA16039017 | APC | c.8198C>G (p.Thr2733Ser) c.*8150C>G (n.*8150C>G) c.8090C>G (p.Thr2697Ser) c.8144C>G (p.Thr2715Ser) c.231-12911C>G c.8174C>G (p.Thr2725Ser) c.8069C>G (p.Thr2690Ser) c.8060C>G (p.Thr2687Ser) c.8021C>G (p.Thr2674Ser) c.7967C>G (p.Thr2656Ser) c.7871C>G (p.Thr2624Ser) c.7841C>G (p.Thr2614Ser) c.7766C>G (p.Thr2589Ser) c.7664C>G (p.Thr2555Ser) c.7295C>G (p.Thr2432Ser) | dbSNP |
| 5 | g.112843738C>T | CA014384 | APC | c.8198C>T (p.Thr2733Ile) c.*8150C>T (n.*8150C>T) c.8090C>T (p.Thr2697Ile) c.8144C>T (p.Thr2715Ile) c.231-12911C>T c.8174C>T (p.Thr2725Ile) c.8069C>T (p.Thr2690Ile) c.8060C>T (p.Thr2687Ile) c.8021C>T (p.Thr2674Ile) c.7967C>T (p.Thr2656Ile) c.7871C>T (p.Thr2624Ile) c.7841C>T (p.Thr2614Ile) c.7766C>T (p.Thr2589Ile) c.7664C>T (p.Thr2555Ile) c.7295C>T (p.Thr2432Ile) | ClinVar dbSNP |
| 5 | g.112843739C>A | CA446211213 | APC | c.8199C>A (p.Thr2733=) c.*8151C>A (n.*8151C>A) c.8091C>A (p.Thr2697=) c.8145C>A (p.Thr2715=) c.231-12910C>A c.8175C>A (p.Thr2725=) c.8070C>A (p.Thr2690=) c.8061C>A (p.Thr2687=) c.8022C>A (p.Thr2674=) c.7968C>A (p.Thr2656=) c.7872C>A (p.Thr2624=) c.7842C>A (p.Thr2614=) c.7767C>A (p.Thr2589=) c.7665C>A (p.Thr2555=) c.7296C>A (p.Thr2432=) | dbSNP |