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.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 |
| 5 | g.112843739C= | CA1573476424 | APC | c.8199C= (p.Thr2733=) c.*8151C= (n.*8151C=) c.8091C= (p.Thr2697=) c.8145C= (p.Thr2715=) c.231-12910C= c.8175C= (p.Thr2725=) c.8070C= (p.Thr2690=) c.8061C= (p.Thr2687=) c.8022C= (p.Thr2674=) c.7968C= (p.Thr2656=) c.7872C= (p.Thr2624=) c.7842C= (p.Thr2614=) c.7767C= (p.Thr2589=) c.7665C= (p.Thr2555=) c.7296C= (p.Thr2432=) | |
| 5 | g.112843739C>G | CA446211214 | APC | c.8199C>G (p.Thr2733=) c.*8151C>G (n.*8151C>G) c.8091C>G (p.Thr2697=) c.8145C>G (p.Thr2715=) c.231-12910C>G c.8175C>G (p.Thr2725=) c.8070C>G (p.Thr2690=) c.8061C>G (p.Thr2687=) c.8022C>G (p.Thr2674=) c.7968C>G (p.Thr2656=) c.7872C>G (p.Thr2624=) c.7842C>G (p.Thr2614=) c.7767C>G (p.Thr2589=) c.7665C>G (p.Thr2555=) c.7296C>G (p.Thr2432=) | dbSNP |
| 5 | g.112843739C>T | CA446211215 | APC | c.8199C>T (p.Thr2733=) c.*8151C>T (n.*8151C>T) c.8091C>T (p.Thr2697=) c.8145C>T (p.Thr2715=) c.231-12910C>T c.8175C>T (p.Thr2725=) c.8070C>T (p.Thr2690=) c.8061C>T (p.Thr2687=) c.8022C>T (p.Thr2674=) c.7968C>T (p.Thr2656=) c.7872C>T (p.Thr2624=) c.7842C>T (p.Thr2614=) c.7767C>T (p.Thr2589=) c.7665C>T (p.Thr2555=) c.7296C>T (p.Thr2432=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112843740G>A | CA014393 | APC | c.8200G>A (p.Val2734Met) c.*8152G>A (n.*8152G>A) c.8092G>A (p.Val2698Met) c.8146G>A (p.Val2716Met) c.231-12909G>A c.8176G>A (p.Val2726Met) c.8071G>A (p.Val2691Met) c.8062G>A (p.Val2688Met) c.8023G>A (p.Val2675Met) c.7969G>A (p.Val2657Met) c.7873G>A (p.Val2625Met) c.7843G>A (p.Val2615Met) c.7768G>A (p.Val2590Met) c.7666G>A (p.Val2556Met) c.7297G>A (p.Val2433Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112843740G>C | CA014405 | APC | c.8200G>C (p.Val2734Leu) c.*8152G>C (n.*8152G>C) c.8092G>C (p.Val2698Leu) c.8146G>C (p.Val2716Leu) c.231-12909G>C c.8176G>C (p.Val2726Leu) c.8071G>C (p.Val2691Leu) c.8062G>C (p.Val2688Leu) c.8023G>C (p.Val2675Leu) c.7969G>C (p.Val2657Leu) c.7873G>C (p.Val2625Leu) c.7843G>C (p.Val2615Leu) c.7768G>C (p.Val2590Leu) c.7666G>C (p.Val2556Leu) c.7297G>C (p.Val2433Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843740G= | CA1573476433 | APC | c.8200G= (p.Val2734=) c.*8152G= (n.*8152G=) c.8092G= (p.Val2698=) c.8146G= (p.Val2716=) c.231-12909G= c.8176G= (p.Val2726=) c.8071G= (p.Val2691=) c.8062G= (p.Val2688=) c.8023G= (p.Val2675=) c.7969G= (p.Val2657=) c.7873G= (p.Val2625=) c.7843G= (p.Val2615=) c.7768G= (p.Val2590=) c.7666G= (p.Val2556=) c.7297G= (p.Val2433=) | |
| 5 | g.112843740G>T | CA16039018 | APC | c.8200G>T (p.Val2734Leu) c.*8152G>T (n.*8152G>T) c.8092G>T (p.Val2698Leu) c.8146G>T (p.Val2716Leu) c.231-12909G>T c.8176G>T (p.Val2726Leu) c.8071G>T (p.Val2691Leu) c.8062G>T (p.Val2688Leu) c.8023G>T (p.Val2675Leu) c.7969G>T (p.Val2657Leu) c.7873G>T (p.Val2625Leu) c.7843G>T (p.Val2615Leu) c.7768G>T (p.Val2590Leu) c.7666G>T (p.Val2556Leu) c.7297G>T (p.Val2433Leu) | ClinVar dbSNP |
| 5 | g.112843741T>A | CA16039019 | APC | c.8201T>A (p.Val2734Glu) c.*8153T>A (n.*8153T>A) c.8093T>A (p.Val2698Glu) c.8147T>A (p.Val2716Glu) c.231-12908T>A c.8177T>A (p.Val2726Glu) c.8072T>A (p.Val2691Glu) c.8063T>A (p.Val2688Glu) c.8024T>A (p.Val2675Glu) c.7970T>A (p.Val2657Glu) c.7874T>A (p.Val2625Glu) c.7844T>A (p.Val2615Glu) c.7769T>A (p.Val2590Glu) c.7667T>A (p.Val2556Glu) c.7298T>A (p.Val2433Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843741T>C | CA16039020 | APC | c.8201T>C (p.Val2734Ala) c.*8153T>C (n.*8153T>C) c.8093T>C (p.Val2698Ala) c.8147T>C (p.Val2716Ala) c.231-12908T>C c.8177T>C (p.Val2726Ala) c.8072T>C (p.Val2691Ala) c.8063T>C (p.Val2688Ala) c.8024T>C (p.Val2675Ala) c.7970T>C (p.Val2657Ala) c.7874T>C (p.Val2625Ala) c.7844T>C (p.Val2615Ala) c.7769T>C (p.Val2590Ala) c.7667T>C (p.Val2556Ala) c.7298T>C (p.Val2433Ala) | |
| 5 | g.112843741T>G | CA16039021 | APC | c.8201T>G (p.Val2734Gly) c.*8153T>G (n.*8153T>G) c.8093T>G (p.Val2698Gly) c.8147T>G (p.Val2716Gly) c.231-12908T>G c.8177T>G (p.Val2726Gly) c.8072T>G (p.Val2691Gly) c.8063T>G (p.Val2688Gly) c.8024T>G (p.Val2675Gly) c.7970T>G (p.Val2657Gly) c.7874T>G (p.Val2625Gly) c.7844T>G (p.Val2615Gly) c.7769T>G (p.Val2590Gly) c.7667T>G (p.Val2556Gly) c.7298T>G (p.Val2433Gly) | dbSNP |
| 5 | g.112843741T= | CA1573476445 | APC | c.8201T= (p.Val2734=) c.*8153T= (n.*8153T=) c.8093T= (p.Val2698=) c.8147T= (p.Val2716=) c.231-12908T= c.8177T= (p.Val2726=) c.8072T= (p.Val2691=) c.8063T= (p.Val2688=) c.8024T= (p.Val2675=) c.7970T= (p.Val2657=) c.7874T= (p.Val2625=) c.7844T= (p.Val2615=) c.7769T= (p.Val2590=) c.7667T= (p.Val2556=) c.7298T= (p.Val2433=) | |
| 5 | g.112843742G>A | CA446211222 | APC | c.8202G>A (p.Val2734=) c.*8154G>A (n.*8154G>A) c.8094G>A (p.Val2698=) c.8148G>A (p.Val2716=) c.231-12907G>A c.8178G>A (p.Val2726=) c.8073G>A (p.Val2691=) c.8064G>A (p.Val2688=) c.8025G>A (p.Val2675=) c.7971G>A (p.Val2657=) c.7875G>A (p.Val2625=) c.7845G>A (p.Val2615=) c.7770G>A (p.Val2590=) c.7668G>A (p.Val2556=) c.7299G>A (p.Val2433=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843742G>C | CA446211220 | APC | c.8202G>C (p.Val2734=) c.*8154G>C (n.*8154G>C) c.8094G>C (p.Val2698=) c.8148G>C (p.Val2716=) c.231-12907G>C c.8178G>C (p.Val2726=) c.8073G>C (p.Val2691=) c.8064G>C (p.Val2688=) c.8025G>C (p.Val2675=) c.7971G>C (p.Val2657=) c.7875G>C (p.Val2625=) c.7845G>C (p.Val2615=) c.7770G>C (p.Val2590=) c.7668G>C (p.Val2556=) c.7299G>C (p.Val2433=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843742G= | CA1573476452 | APC | c.8202G= (p.Val2734=) c.*8154G= (n.*8154G=) c.8094G= (p.Val2698=) c.8148G= (p.Val2716=) c.231-12907G= c.8178G= (p.Val2726=) c.8073G= (p.Val2691=) c.8064G= (p.Val2688=) c.8025G= (p.Val2675=) c.7971G= (p.Val2657=) c.7875G= (p.Val2625=) c.7845G= (p.Val2615=) c.7770G= (p.Val2590=) c.7668G= (p.Val2556=) c.7299G= (p.Val2433=) | |
| 5 | g.112843742G>T | CA446211219 | APC | c.8202G>T (p.Val2734=) c.*8154G>T (n.*8154G>T) c.8094G>T (p.Val2698=) c.8148G>T (p.Val2716=) c.231-12907G>T c.8178G>T (p.Val2726=) c.8073G>T (p.Val2691=) c.8064G>T (p.Val2688=) c.8025G>T (p.Val2675=) c.7971G>T (p.Val2657=) c.7875G>T (p.Val2625=) c.7845G>T (p.Val2615=) c.7770G>T (p.Val2590=) c.7668G>T (p.Val2556=) c.7299G>T (p.Val2433=) | |
| 5 | g.112843743G>A | CA16039022 | APC | c.8203G>A (p.Gly2735Ser) c.*8155G>A (n.*8155G>A) c.8095G>A (p.Gly2699Ser) c.8149G>A (p.Gly2717Ser) c.231-12906G>A c.8179G>A (p.Gly2727Ser) c.8074G>A (p.Gly2692Ser) c.8065G>A (p.Gly2689Ser) c.8026G>A (p.Gly2676Ser) c.7972G>A (p.Gly2658Ser) c.7876G>A (p.Gly2626Ser) c.7846G>A (p.Gly2616Ser) c.7771G>A (p.Gly2591Ser) c.7669G>A (p.Gly2557Ser) c.7300G>A (p.Gly2434Ser) | dbSNP gnomAD v2 gnomAD v4 |