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.112843110A= | CA1573471449 | APC | c.7570A= (p.Lys2524=) c.*7522A= (n.*7522A=) c.7462A= (p.Lys2488=) c.7516A= (p.Lys2506=) c.231-13539A= c.7546A= (p.Lys2516=) c.7441A= (p.Lys2481=) c.7432A= (p.Lys2478=) c.7393A= (p.Lys2465=) c.7339A= (p.Lys2447=) c.7243A= (p.Lys2415=) c.7213A= (p.Lys2405=) c.7138A= (p.Lys2380=) c.7036A= (p.Lys2346=) c.6667A= (p.Lys2223=) | |
| 5 | g.112843110A>C | CA16037669 | APC | c.7570A>C (p.Lys2524Gln) c.*7522A>C (n.*7522A>C) c.7462A>C (p.Lys2488Gln) c.7516A>C (p.Lys2506Gln) c.231-13539A>C c.7546A>C (p.Lys2516Gln) c.7441A>C (p.Lys2481Gln) c.7432A>C (p.Lys2478Gln) c.7393A>C (p.Lys2465Gln) c.7339A>C (p.Lys2447Gln) c.7243A>C (p.Lys2415Gln) c.7213A>C (p.Lys2405Gln) c.7138A>C (p.Lys2380Gln) c.7036A>C (p.Lys2346Gln) c.6667A>C (p.Lys2223Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843110A>G | CA16037670 | APC | c.7570A>G (p.Lys2524Glu) c.*7522A>G (n.*7522A>G) c.7462A>G (p.Lys2488Glu) c.7516A>G (p.Lys2506Glu) c.231-13539A>G c.7546A>G (p.Lys2516Glu) c.7441A>G (p.Lys2481Glu) c.7432A>G (p.Lys2478Glu) c.7393A>G (p.Lys2465Glu) c.7339A>G (p.Lys2447Glu) c.7243A>G (p.Lys2415Glu) c.7213A>G (p.Lys2405Glu) c.7138A>G (p.Lys2380Glu) c.7036A>G (p.Lys2346Glu) c.6667A>G (p.Lys2223Glu) | dbSNP |
| 5 | g.112843110A>T | CA16037671 | APC | c.7570A>T (p.Lys2524Ter) c.*7522A>T (n.*7522A>T) c.7462A>T (p.Lys2488Ter) c.7516A>T (p.Lys2506Ter) c.231-13539A>T c.7546A>T (p.Lys2516Ter) c.7441A>T (p.Lys2481Ter) c.7432A>T (p.Lys2478Ter) c.7393A>T (p.Lys2465Ter) c.7339A>T (p.Lys2447Ter) c.7243A>T (p.Lys2415Ter) c.7213A>T (p.Lys2405Ter) c.7138A>T (p.Lys2380Ter) c.7036A>T (p.Lys2346Ter) c.6667A>T (p.Lys2223Ter) | dbSNP |
| 5 | g.112843111A= | CA1573471453 | APC | c.7571A= (p.Lys2524=) c.*7523A= (n.*7523A=) c.7463A= (p.Lys2488=) c.7517A= (p.Lys2506=) c.231-13538A= c.7547A= (p.Lys2516=) c.7442A= (p.Lys2481=) c.7433A= (p.Lys2478=) c.7394A= (p.Lys2465=) c.7340A= (p.Lys2447=) c.7244A= (p.Lys2415=) c.7214A= (p.Lys2405=) c.7139A= (p.Lys2380=) c.7037A= (p.Lys2346=) c.6668A= (p.Lys2223=) | |
| 5 | g.112843111A>C | CA16037672 | APC | c.7571A>C (p.Lys2524Thr) c.*7523A>C (n.*7523A>C) c.7463A>C (p.Lys2488Thr) c.7517A>C (p.Lys2506Thr) c.231-13538A>C c.7547A>C (p.Lys2516Thr) c.7442A>C (p.Lys2481Thr) c.7433A>C (p.Lys2478Thr) c.7394A>C (p.Lys2465Thr) c.7340A>C (p.Lys2447Thr) c.7244A>C (p.Lys2415Thr) c.7214A>C (p.Lys2405Thr) c.7139A>C (p.Lys2380Thr) c.7037A>C (p.Lys2346Thr) c.6668A>C (p.Lys2223Thr) | dbSNP gnomAD v2 |
| 5 | g.112843111A>G | CA16037673 | APC | c.7571A>G (p.Lys2524Arg) c.*7523A>G (n.*7523A>G) c.7463A>G (p.Lys2488Arg) c.7517A>G (p.Lys2506Arg) c.231-13538A>G c.7547A>G (p.Lys2516Arg) c.7442A>G (p.Lys2481Arg) c.7433A>G (p.Lys2478Arg) c.7394A>G (p.Lys2465Arg) c.7340A>G (p.Lys2447Arg) c.7244A>G (p.Lys2415Arg) c.7214A>G (p.Lys2405Arg) c.7139A>G (p.Lys2380Arg) c.7037A>G (p.Lys2346Arg) c.6668A>G (p.Lys2223Arg) | dbSNP |
| 5 | g.112843111A>T | CA16037674 | APC | c.7571A>T (p.Lys2524Ile) c.*7523A>T (n.*7523A>T) c.7463A>T (p.Lys2488Ile) c.7517A>T (p.Lys2506Ile) c.231-13538A>T c.7547A>T (p.Lys2516Ile) c.7442A>T (p.Lys2481Ile) c.7433A>T (p.Lys2478Ile) c.7394A>T (p.Lys2465Ile) c.7340A>T (p.Lys2447Ile) c.7244A>T (p.Lys2415Ile) c.7214A>T (p.Lys2405Ile) c.7139A>T (p.Lys2380Ile) c.7037A>T (p.Lys2346Ile) c.6668A>T (p.Lys2223Ile) | dbSNP |
| 5 | g.112843112A= | CA1573471463 | APC | c.7572A= (p.Lys2524=) c.*7524A= (n.*7524A=) c.7464A= (p.Lys2488=) c.7518A= (p.Lys2506=) c.231-13537A= c.7548A= (p.Lys2516=) c.7443A= (p.Lys2481=) c.7434A= (p.Lys2478=) c.7395A= (p.Lys2465=) c.7341A= (p.Lys2447=) c.7245A= (p.Lys2415=) c.7215A= (p.Lys2405=) c.7140A= (p.Lys2380=) c.7038A= (p.Lys2346=) c.6669A= (p.Lys2223=) | |
| 5 | g.112843112A>C | CA16037675 | APC | c.7572A>C (p.Lys2524Asn) c.*7524A>C (n.*7524A>C) c.7464A>C (p.Lys2488Asn) c.7518A>C (p.Lys2506Asn) c.231-13537A>C c.7548A>C (p.Lys2516Asn) c.7443A>C (p.Lys2481Asn) c.7434A>C (p.Lys2478Asn) c.7395A>C (p.Lys2465Asn) c.7341A>C (p.Lys2447Asn) c.7245A>C (p.Lys2415Asn) c.7215A>C (p.Lys2405Asn) c.7140A>C (p.Lys2380Asn) c.7038A>C (p.Lys2346Asn) c.6669A>C (p.Lys2223Asn) | dbSNP |
| 5 | g.112843112A>G | CA10578445 | APC | c.7572A>G (p.Lys2524=) c.*7524A>G (n.*7524A>G) c.7464A>G (p.Lys2488=) c.7518A>G (p.Lys2506=) c.231-13537A>G c.7548A>G (p.Lys2516=) c.7443A>G (p.Lys2481=) c.7434A>G (p.Lys2478=) c.7395A>G (p.Lys2465=) c.7341A>G (p.Lys2447=) c.7245A>G (p.Lys2415=) c.7215A>G (p.Lys2405=) c.7140A>G (p.Lys2380=) c.7038A>G (p.Lys2346=) c.6669A>G (p.Lys2223=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112843112A>T | CA16037676 | APC | c.7572A>T (p.Lys2524Asn) c.*7524A>T (n.*7524A>T) c.7464A>T (p.Lys2488Asn) c.7518A>T (p.Lys2506Asn) c.231-13537A>T c.7548A>T (p.Lys2516Asn) c.7443A>T (p.Lys2481Asn) c.7434A>T (p.Lys2478Asn) c.7395A>T (p.Lys2465Asn) c.7341A>T (p.Lys2447Asn) c.7245A>T (p.Lys2415Asn) c.7215A>T (p.Lys2405Asn) c.7140A>T (p.Lys2380Asn) c.7038A>T (p.Lys2346Asn) c.6669A>T (p.Lys2223Asn) | ClinVar dbSNP |
| 5 | g.112843113C>A | CA16037677 | APC | c.7573C>A (p.Leu2525Ile) c.*7525C>A (n.*7525C>A) c.7465C>A (p.Leu2489Ile) c.7519C>A (p.Leu2507Ile) c.231-13536C>A c.7549C>A (p.Leu2517Ile) c.7444C>A (p.Leu2482Ile) c.7435C>A (p.Leu2479Ile) c.7396C>A (p.Leu2466Ile) c.7342C>A (p.Leu2448Ile) c.7246C>A (p.Leu2416Ile) c.7216C>A (p.Leu2406Ile) c.7141C>A (p.Leu2381Ile) c.7039C>A (p.Leu2347Ile) c.6670C>A (p.Leu2224Ile) | |
| 5 | g.112843113C= | CA1573471474 | APC | c.7573C= (p.Leu2525=) c.*7525C= (n.*7525C=) c.7465C= (p.Leu2489=) c.7519C= (p.Leu2507=) c.231-13536C= c.7549C= (p.Leu2517=) c.7444C= (p.Leu2482=) c.7435C= (p.Leu2479=) c.7396C= (p.Leu2466=) c.7342C= (p.Leu2448=) c.7246C= (p.Leu2416=) c.7216C= (p.Leu2406=) c.7141C= (p.Leu2381=) c.7039C= (p.Leu2347=) c.6670C= (p.Leu2224=) | |
| 5 | g.112843113C>G | CA16037678 | APC | c.7573C>G (p.Leu2525Val) c.*7525C>G (n.*7525C>G) c.7465C>G (p.Leu2489Val) c.7519C>G (p.Leu2507Val) c.231-13536C>G c.7549C>G (p.Leu2517Val) c.7444C>G (p.Leu2482Val) c.7435C>G (p.Leu2479Val) c.7396C>G (p.Leu2466Val) c.7342C>G (p.Leu2448Val) c.7246C>G (p.Leu2416Val) c.7216C>G (p.Leu2406Val) c.7141C>G (p.Leu2381Val) c.7039C>G (p.Leu2347Val) c.6670C>G (p.Leu2224Val) | dbSNP |
| 5 | g.112843113C>T | CA16037679 | APC | c.7573C>T (p.Leu2525Phe) c.*7525C>T (n.*7525C>T) c.7465C>T (p.Leu2489Phe) c.7519C>T (p.Leu2507Phe) c.231-13536C>T c.7549C>T (p.Leu2517Phe) c.7444C>T (p.Leu2482Phe) c.7435C>T (p.Leu2479Phe) c.7396C>T (p.Leu2466Phe) c.7342C>T (p.Leu2448Phe) c.7246C>T (p.Leu2416Phe) c.7216C>T (p.Leu2406Phe) c.7141C>T (p.Leu2381Phe) c.7039C>T (p.Leu2347Phe) c.6670C>T (p.Leu2224Phe) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843114T>A | CA16037680 | APC | c.7574T>A (p.Leu2525His) c.*7526T>A (n.*7526T>A) c.7466T>A (p.Leu2489His) c.7520T>A (p.Leu2507His) c.231-13535T>A c.7550T>A (p.Leu2517His) c.7445T>A (p.Leu2482His) c.7436T>A (p.Leu2479His) c.7397T>A (p.Leu2466His) c.7343T>A (p.Leu2448His) c.7247T>A (p.Leu2416His) c.7217T>A (p.Leu2406His) c.7142T>A (p.Leu2381His) c.7040T>A (p.Leu2347His) c.6671T>A (p.Leu2224His) | |
| 5 | g.112843114T>C | CA16037681 | APC | c.7574T>C (p.Leu2525Pro) c.*7526T>C (n.*7526T>C) c.7466T>C (p.Leu2489Pro) c.7520T>C (p.Leu2507Pro) c.231-13535T>C c.7550T>C (p.Leu2517Pro) c.7445T>C (p.Leu2482Pro) c.7436T>C (p.Leu2479Pro) c.7397T>C (p.Leu2466Pro) c.7343T>C (p.Leu2448Pro) c.7247T>C (p.Leu2416Pro) c.7217T>C (p.Leu2406Pro) c.7142T>C (p.Leu2381Pro) c.7040T>C (p.Leu2347Pro) c.6671T>C (p.Leu2224Pro) | |
| 5 | g.112843114T>G | CA16037682 | APC | c.7574T>G (p.Leu2525Arg) c.*7526T>G (n.*7526T>G) c.7466T>G (p.Leu2489Arg) c.7520T>G (p.Leu2507Arg) c.231-13535T>G c.7550T>G (p.Leu2517Arg) c.7445T>G (p.Leu2482Arg) c.7436T>G (p.Leu2479Arg) c.7397T>G (p.Leu2466Arg) c.7343T>G (p.Leu2448Arg) c.7247T>G (p.Leu2416Arg) c.7217T>G (p.Leu2406Arg) c.7142T>G (p.Leu2381Arg) c.7040T>G (p.Leu2347Arg) c.6671T>G (p.Leu2224Arg) | |
| 5 | g.112843115C>A | CA446210870 | APC | c.7575C>A (p.Leu2525=) c.*7527C>A (n.*7527C>A) c.7467C>A (p.Leu2489=) c.7521C>A (p.Leu2507=) c.231-13534C>A c.7551C>A (p.Leu2517=) c.7446C>A (p.Leu2482=) c.7437C>A (p.Leu2479=) c.7398C>A (p.Leu2466=) c.7344C>A (p.Leu2448=) c.7248C>A (p.Leu2416=) c.7218C>A (p.Leu2406=) c.7143C>A (p.Leu2381=) c.7041C>A (p.Leu2347=) c.6672C>A (p.Leu2224=) | dbSNP |
| 5 | g.112843115C= | CA1573471495 | APC | c.7575C= (p.Leu2525=) c.*7527C= (n.*7527C=) c.7467C= (p.Leu2489=) c.7521C= (p.Leu2507=) c.231-13534C= c.7551C= (p.Leu2517=) c.7446C= (p.Leu2482=) c.7437C= (p.Leu2479=) c.7398C= (p.Leu2466=) c.7344C= (p.Leu2448=) c.7248C= (p.Leu2416=) c.7218C= (p.Leu2406=) c.7143C= (p.Leu2381=) c.7041C= (p.Leu2347=) c.6672C= (p.Leu2224=) | |
| 5 | g.112843115C>G | CA446210871 | APC | c.7575C>G (p.Leu2525=) c.*7527C>G (n.*7527C>G) c.7467C>G (p.Leu2489=) c.7521C>G (p.Leu2507=) c.231-13534C>G c.7551C>G (p.Leu2517=) c.7446C>G (p.Leu2482=) c.7437C>G (p.Leu2479=) c.7398C>G (p.Leu2466=) c.7344C>G (p.Leu2448=) c.7248C>G (p.Leu2416=) c.7218C>G (p.Leu2406=) c.7143C>G (p.Leu2381=) c.7041C>G (p.Leu2347=) c.6672C>G (p.Leu2224=) | ClinVar dbSNP |
| 5 | g.112843115C>T | CA446210872 | APC | c.7575C>T (p.Leu2525=) c.*7527C>T (n.*7527C>T) c.7467C>T (p.Leu2489=) c.7521C>T (p.Leu2507=) c.231-13534C>T c.7551C>T (p.Leu2517=) c.7446C>T (p.Leu2482=) c.7437C>T (p.Leu2479=) c.7398C>T (p.Leu2466=) c.7344C>T (p.Leu2448=) c.7248C>T (p.Leu2416=) c.7218C>T (p.Leu2406=) c.7143C>T (p.Leu2381=) c.7041C>T (p.Leu2347=) c.6672C>T (p.Leu2224=) | dbSNP |
| 5 | g.112843116C>A | CA16037683 | APC | c.7576C>A (p.Pro2526Thr) c.*7528C>A (n.*7528C>A) c.7468C>A (p.Pro2490Thr) c.7522C>A (p.Pro2508Thr) c.231-13533C>A c.7552C>A (p.Pro2518Thr) c.7447C>A (p.Pro2483Thr) c.7438C>A (p.Pro2480Thr) c.7399C>A (p.Pro2467Thr) c.7345C>A (p.Pro2449Thr) c.7249C>A (p.Pro2417Thr) c.7219C>A (p.Pro2407Thr) c.7144C>A (p.Pro2382Thr) c.7042C>A (p.Pro2348Thr) c.6673C>A (p.Pro2225Thr) | dbSNP |
| 5 | g.112843116C= | CA1573471500 | APC | c.7576C= (p.Pro2526=) c.*7528C= (n.*7528C=) c.7468C= (p.Pro2490=) c.7522C= (p.Pro2508=) c.231-13533C= c.7552C= (p.Pro2518=) c.7447C= (p.Pro2483=) c.7438C= (p.Pro2480=) c.7399C= (p.Pro2467=) c.7345C= (p.Pro2449=) c.7249C= (p.Pro2417=) c.7219C= (p.Pro2407=) c.7144C= (p.Pro2382=) c.7042C= (p.Pro2348=) c.6673C= (p.Pro2225=) | |
| 5 | g.112843116C>G | CA16037684 | APC | c.7576C>G (p.Pro2526Ala) c.*7528C>G (n.*7528C>G) c.7468C>G (p.Pro2490Ala) c.7522C>G (p.Pro2508Ala) c.231-13533C>G c.7552C>G (p.Pro2518Ala) c.7447C>G (p.Pro2483Ala) c.7438C>G (p.Pro2480Ala) c.7399C>G (p.Pro2467Ala) c.7345C>G (p.Pro2449Ala) c.7249C>G (p.Pro2417Ala) c.7219C>G (p.Pro2407Ala) c.7144C>G (p.Pro2382Ala) c.7042C>G (p.Pro2348Ala) c.6673C>G (p.Pro2225Ala) | dbSNP |
| 5 | g.112843116C>T | CA16037685 | APC | c.7576C>T (p.Pro2526Ser) c.*7528C>T (n.*7528C>T) c.7468C>T (p.Pro2490Ser) c.7522C>T (p.Pro2508Ser) c.231-13533C>T c.7552C>T (p.Pro2518Ser) c.7447C>T (p.Pro2483Ser) c.7438C>T (p.Pro2480Ser) c.7399C>T (p.Pro2467Ser) c.7345C>T (p.Pro2449Ser) c.7249C>T (p.Pro2417Ser) c.7219C>T (p.Pro2407Ser) c.7144C>T (p.Pro2382Ser) c.7042C>T (p.Pro2348Ser) c.6673C>T (p.Pro2225Ser) | dbSNP |
| 5 | g.112843117C>A | CA16037686 | APC | c.7577C>A (p.Pro2526Gln) c.*7529C>A (n.*7529C>A) c.7469C>A (p.Pro2490Gln) c.7523C>A (p.Pro2508Gln) c.231-13532C>A c.7553C>A (p.Pro2518Gln) c.7448C>A (p.Pro2483Gln) c.7439C>A (p.Pro2480Gln) c.7400C>A (p.Pro2467Gln) c.7346C>A (p.Pro2449Gln) c.7250C>A (p.Pro2417Gln) c.7220C>A (p.Pro2407Gln) c.7145C>A (p.Pro2382Gln) c.7043C>A (p.Pro2348Gln) c.6674C>A (p.Pro2225Gln) | |
| 5 | g.112843117C>G | CA16037687 | APC | c.7577C>G (p.Pro2526Arg) c.*7529C>G (n.*7529C>G) c.7469C>G (p.Pro2490Arg) c.7523C>G (p.Pro2508Arg) c.231-13532C>G c.7553C>G (p.Pro2518Arg) c.7448C>G (p.Pro2483Arg) c.7439C>G (p.Pro2480Arg) c.7400C>G (p.Pro2467Arg) c.7346C>G (p.Pro2449Arg) c.7250C>G (p.Pro2417Arg) c.7220C>G (p.Pro2407Arg) c.7145C>G (p.Pro2382Arg) c.7043C>G (p.Pro2348Arg) c.6674C>G (p.Pro2225Arg) | |
| 5 | g.112843117C>T | CA16037688 | APC | c.7577C>T (p.Pro2526Leu) c.*7529C>T (n.*7529C>T) c.7469C>T (p.Pro2490Leu) c.7523C>T (p.Pro2508Leu) c.231-13532C>T c.7553C>T (p.Pro2518Leu) c.7448C>T (p.Pro2483Leu) c.7439C>T (p.Pro2480Leu) c.7400C>T (p.Pro2467Leu) c.7346C>T (p.Pro2449Leu) c.7250C>T (p.Pro2417Leu) c.7220C>T (p.Pro2407Leu) c.7145C>T (p.Pro2382Leu) c.7043C>T (p.Pro2348Leu) c.6674C>T (p.Pro2225Leu) | gnomAD v4 |
| 5 | g.112843118A>C | CA446210873 | APC | c.7578A>C (p.Pro2526=) c.*7530A>C (n.*7530A>C) c.7470A>C (p.Pro2490=) c.7524A>C (p.Pro2508=) c.231-13531A>C c.7554A>C (p.Pro2518=) c.7449A>C (p.Pro2483=) c.7440A>C (p.Pro2480=) c.7401A>C (p.Pro2467=) c.7347A>C (p.Pro2449=) c.7251A>C (p.Pro2417=) c.7221A>C (p.Pro2407=) c.7146A>C (p.Pro2382=) c.7044A>C (p.Pro2348=) c.6675A>C (p.Pro2225=) | dbSNP |
| 5 | g.112843118A>G | CA446210875 | APC | c.7578A>G (p.Pro2526=) c.*7530A>G (n.*7530A>G) c.7470A>G (p.Pro2490=) c.7524A>G (p.Pro2508=) c.231-13531A>G c.7554A>G (p.Pro2518=) c.7449A>G (p.Pro2483=) c.7440A>G (p.Pro2480=) c.7401A>G (p.Pro2467=) c.7347A>G (p.Pro2449=) c.7251A>G (p.Pro2417=) c.7221A>G (p.Pro2407=) c.7146A>G (p.Pro2382=) c.7044A>G (p.Pro2348=) c.6675A>G (p.Pro2225=) | dbSNP |
| 5 | g.112843118A>T | CA446210874 | APC | c.7578A>T (p.Pro2526=) c.*7530A>T (n.*7530A>T) c.7470A>T (p.Pro2490=) c.7524A>T (p.Pro2508=) c.231-13531A>T c.7554A>T (p.Pro2518=) c.7449A>T (p.Pro2483=) c.7440A>T (p.Pro2480=) c.7401A>T (p.Pro2467=) c.7347A>T (p.Pro2449=) c.7251A>T (p.Pro2417=) c.7221A>T (p.Pro2407=) c.7146A>T (p.Pro2382=) c.7044A>T (p.Pro2348=) c.6675A>T (p.Pro2225=) | ClinVar dbSNP |
| 5 | g.112843119C>A | CA16037689 | APC | c.7579C>A (p.Pro2527Thr) c.*7531C>A (n.*7531C>A) c.7471C>A (p.Pro2491Thr) c.7525C>A (p.Pro2509Thr) c.231-13530C>A c.7555C>A (p.Pro2519Thr) c.7450C>A (p.Pro2484Thr) c.7441C>A (p.Pro2481Thr) c.7402C>A (p.Pro2468Thr) c.7348C>A (p.Pro2450Thr) c.7252C>A (p.Pro2418Thr) c.7222C>A (p.Pro2408Thr) c.7147C>A (p.Pro2383Thr) c.7045C>A (p.Pro2349Thr) c.6676C>A (p.Pro2226Thr) | dbSNP |
| 5 | g.112843119C= | CA1573471508 | APC | c.7579C= (p.Pro2527=) c.*7531C= (n.*7531C=) c.7471C= (p.Pro2491=) c.7525C= (p.Pro2509=) c.231-13530C= c.7555C= (p.Pro2519=) c.7450C= (p.Pro2484=) c.7441C= (p.Pro2481=) c.7402C= (p.Pro2468=) c.7348C= (p.Pro2450=) c.7252C= (p.Pro2418=) c.7222C= (p.Pro2408=) c.7147C= (p.Pro2383=) c.7045C= (p.Pro2349=) c.6676C= (p.Pro2226=) | |
| 5 | g.112843119C>G | CA16037690 | APC | c.7579C>G (p.Pro2527Ala) c.*7531C>G (n.*7531C>G) c.7471C>G (p.Pro2491Ala) c.7525C>G (p.Pro2509Ala) c.231-13530C>G c.7555C>G (p.Pro2519Ala) c.7450C>G (p.Pro2484Ala) c.7441C>G (p.Pro2481Ala) c.7402C>G (p.Pro2468Ala) c.7348C>G (p.Pro2450Ala) c.7252C>G (p.Pro2418Ala) c.7222C>G (p.Pro2408Ala) c.7147C>G (p.Pro2383Ala) c.7045C>G (p.Pro2349Ala) c.6676C>G (p.Pro2226Ala) | dbSNP |
| 5 | g.112843119C>T | CA16037691 | APC | c.7579C>T (p.Pro2527Ser) c.*7531C>T (n.*7531C>T) c.7471C>T (p.Pro2491Ser) c.7525C>T (p.Pro2509Ser) c.231-13530C>T c.7555C>T (p.Pro2519Ser) c.7450C>T (p.Pro2484Ser) c.7441C>T (p.Pro2481Ser) c.7402C>T (p.Pro2468Ser) c.7348C>T (p.Pro2450Ser) c.7252C>T (p.Pro2418Ser) c.7222C>T (p.Pro2408Ser) c.7147C>T (p.Pro2383Ser) c.7045C>T (p.Pro2349Ser) c.6676C>T (p.Pro2226Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112843120C>A | CA16037692 | APC | c.7580C>A (p.Pro2527His) c.*7532C>A (n.*7532C>A) c.7472C>A (p.Pro2491His) c.7526C>A (p.Pro2509His) c.231-13529C>A c.7556C>A (p.Pro2519His) c.7451C>A (p.Pro2484His) c.7442C>A (p.Pro2481His) c.7403C>A (p.Pro2468His) c.7349C>A (p.Pro2450His) c.7253C>A (p.Pro2418His) c.7223C>A (p.Pro2408His) c.7148C>A (p.Pro2383His) c.7046C>A (p.Pro2349His) c.6677C>A (p.Pro2226His) | dbSNP |
| 5 | g.112843120C= | CA1573471519 | APC | c.7580C= (p.Pro2527=) c.*7532C= (n.*7532C=) c.7472C= (p.Pro2491=) c.7526C= (p.Pro2509=) c.231-13529C= c.7556C= (p.Pro2519=) c.7451C= (p.Pro2484=) c.7442C= (p.Pro2481=) c.7403C= (p.Pro2468=) c.7349C= (p.Pro2450=) c.7253C= (p.Pro2418=) c.7223C= (p.Pro2408=) c.7148C= (p.Pro2383=) c.7046C= (p.Pro2349=) c.6677C= (p.Pro2226=) | |
| 5 | g.112843120C>G | CA16037693 | APC | c.7580C>G (p.Pro2527Arg) c.*7532C>G (n.*7532C>G) c.7472C>G (p.Pro2491Arg) c.7526C>G (p.Pro2509Arg) c.231-13529C>G c.7556C>G (p.Pro2519Arg) c.7451C>G (p.Pro2484Arg) c.7442C>G (p.Pro2481Arg) c.7403C>G (p.Pro2468Arg) c.7349C>G (p.Pro2450Arg) c.7253C>G (p.Pro2418Arg) c.7223C>G (p.Pro2408Arg) c.7148C>G (p.Pro2383Arg) c.7046C>G (p.Pro2349Arg) c.6677C>G (p.Pro2226Arg) | dbSNP |
| 5 | g.112843120C>T | CA16037694 | APC | c.7580C>T (p.Pro2527Leu) c.*7532C>T (n.*7532C>T) c.7472C>T (p.Pro2491Leu) c.7526C>T (p.Pro2509Leu) c.231-13529C>T c.7556C>T (p.Pro2519Leu) c.7451C>T (p.Pro2484Leu) c.7442C>T (p.Pro2481Leu) c.7403C>T (p.Pro2468Leu) c.7349C>T (p.Pro2450Leu) c.7253C>T (p.Pro2418Leu) c.7223C>T (p.Pro2408Leu) c.7148C>T (p.Pro2383Leu) c.7046C>T (p.Pro2349Leu) c.6677C>T (p.Pro2226Leu) | ClinVar dbSNP |
| 5 | g.112843121T>A | CA446210878 | APC | c.7581T>A (p.Pro2527=) c.*7533T>A (n.*7533T>A) c.7473T>A (p.Pro2491=) c.7527T>A (p.Pro2509=) c.231-13528T>A c.7557T>A (p.Pro2519=) c.7452T>A (p.Pro2484=) c.7443T>A (p.Pro2481=) c.7404T>A (p.Pro2468=) c.7350T>A (p.Pro2450=) c.7254T>A (p.Pro2418=) c.7224T>A (p.Pro2408=) c.7149T>A (p.Pro2383=) c.7047T>A (p.Pro2349=) c.6678T>A (p.Pro2226=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843121T>C | CA446210877 | APC | c.7581T>C (p.Pro2527=) c.*7533T>C (n.*7533T>C) c.7473T>C (p.Pro2491=) c.7527T>C (p.Pro2509=) c.231-13528T>C c.7557T>C (p.Pro2519=) c.7452T>C (p.Pro2484=) c.7443T>C (p.Pro2481=) c.7404T>C (p.Pro2468=) c.7350T>C (p.Pro2450=) c.7254T>C (p.Pro2418=) c.7224T>C (p.Pro2408=) c.7149T>C (p.Pro2383=) c.7047T>C (p.Pro2349=) c.6678T>C (p.Pro2226=) | |
| 5 | g.112843121T>G | CA446210876 | APC | c.7581T>G (p.Pro2527=) c.*7533T>G (n.*7533T>G) c.7473T>G (p.Pro2491=) c.7527T>G (p.Pro2509=) c.231-13528T>G c.7557T>G (p.Pro2519=) c.7452T>G (p.Pro2484=) c.7443T>G (p.Pro2481=) c.7404T>G (p.Pro2468=) c.7350T>G (p.Pro2450=) c.7254T>G (p.Pro2418=) c.7224T>G (p.Pro2408=) c.7149T>G (p.Pro2383=) c.7047T>G (p.Pro2349=) c.6678T>G (p.Pro2226=) | |
| 5 | g.112843121T= | CA1573471528 | APC | c.7581T= (p.Pro2527=) c.*7533T= (n.*7533T=) c.7473T= (p.Pro2491=) c.7527T= (p.Pro2509=) c.231-13528T= c.7557T= (p.Pro2519=) c.7452T= (p.Pro2484=) c.7443T= (p.Pro2481=) c.7404T= (p.Pro2468=) c.7350T= (p.Pro2450=) c.7254T= (p.Pro2418=) c.7224T= (p.Pro2408=) c.7149T= (p.Pro2383=) c.7047T= (p.Pro2349=) c.6678T= (p.Pro2226=) | |
| 5 | g.112843122A= | CA1573471536 | APC | c.7582A= (p.Asn2528=) c.*7534A= (n.*7534A=) c.7474A= (p.Asn2492=) c.7528A= (p.Asn2510=) c.231-13527A= c.7558A= (p.Asn2520=) c.7453A= (p.Asn2485=) c.7444A= (p.Asn2482=) c.7405A= (p.Asn2469=) c.7351A= (p.Asn2451=) c.7255A= (p.Asn2419=) c.7225A= (p.Asn2409=) c.7150A= (p.Asn2384=) c.7048A= (p.Asn2350=) c.6679A= (p.Asn2227=) | |
| 5 | g.112843122A>C | CA16037695 | APC | c.7582A>C (p.Asn2528His) c.*7534A>C (n.*7534A>C) c.7474A>C (p.Asn2492His) c.7528A>C (p.Asn2510His) c.231-13527A>C c.7558A>C (p.Asn2520His) c.7453A>C (p.Asn2485His) c.7444A>C (p.Asn2482His) c.7405A>C (p.Asn2469His) c.7351A>C (p.Asn2451His) c.7255A>C (p.Asn2419His) c.7225A>C (p.Asn2409His) c.7150A>C (p.Asn2384His) c.7048A>C (p.Asn2350His) c.6679A>C (p.Asn2227His) | |
| 5 | g.112843122A>G | CA013762 | APC | c.7582A>G (p.Asn2528Asp) c.*7534A>G (n.*7534A>G) c.7474A>G (p.Asn2492Asp) c.7528A>G (p.Asn2510Asp) c.231-13527A>G c.7558A>G (p.Asn2520Asp) c.7453A>G (p.Asn2485Asp) c.7444A>G (p.Asn2482Asp) c.7405A>G (p.Asn2469Asp) c.7351A>G (p.Asn2451Asp) c.7255A>G (p.Asn2419Asp) c.7225A>G (p.Asn2409Asp) c.7150A>G (p.Asn2384Asp) c.7048A>G (p.Asn2350Asp) c.6679A>G (p.Asn2227Asp) | ClinVar dbSNP |
| 5 | g.112843122A>T | CA16037696 | APC | c.7582A>T (p.Asn2528Tyr) c.*7534A>T (n.*7534A>T) c.7474A>T (p.Asn2492Tyr) c.7528A>T (p.Asn2510Tyr) c.231-13527A>T c.7558A>T (p.Asn2520Tyr) c.7453A>T (p.Asn2485Tyr) c.7444A>T (p.Asn2482Tyr) c.7405A>T (p.Asn2469Tyr) c.7351A>T (p.Asn2451Tyr) c.7255A>T (p.Asn2419Tyr) c.7225A>T (p.Asn2409Tyr) c.7150A>T (p.Asn2384Tyr) c.7048A>T (p.Asn2350Tyr) c.6679A>T (p.Asn2227Tyr) | dbSNP |
| 5 | g.112843123A= | CA1573471548 | APC | c.7583A= (p.Asn2528=) c.*7535A= (n.*7535A=) c.7475A= (p.Asn2492=) c.7529A= (p.Asn2510=) c.231-13526A= c.7559A= (p.Asn2520=) c.7454A= (p.Asn2485=) c.7445A= (p.Asn2482=) c.7406A= (p.Asn2469=) c.7352A= (p.Asn2451=) c.7256A= (p.Asn2419=) c.7226A= (p.Asn2409=) c.7151A= (p.Asn2384=) c.7049A= (p.Asn2350=) c.6680A= (p.Asn2227=) |