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.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=) | |
| 5 | g.112843123A>C | CA16037697 | APC | c.7583A>C (p.Asn2528Thr) c.*7535A>C (n.*7535A>C) c.7475A>C (p.Asn2492Thr) c.7529A>C (p.Asn2510Thr) c.231-13526A>C c.7559A>C (p.Asn2520Thr) c.7454A>C (p.Asn2485Thr) c.7445A>C (p.Asn2482Thr) c.7406A>C (p.Asn2469Thr) c.7352A>C (p.Asn2451Thr) c.7256A>C (p.Asn2419Thr) c.7226A>C (p.Asn2409Thr) c.7151A>C (p.Asn2384Thr) c.7049A>C (p.Asn2350Thr) c.6680A>C (p.Asn2227Thr) | dbSNP |
| 5 | g.112843123A>G | CA10578446 | APC | c.7583A>G (p.Asn2528Ser) c.*7535A>G (n.*7535A>G) c.7475A>G (p.Asn2492Ser) c.7529A>G (p.Asn2510Ser) c.231-13526A>G c.7559A>G (p.Asn2520Ser) c.7454A>G (p.Asn2485Ser) c.7445A>G (p.Asn2482Ser) c.7406A>G (p.Asn2469Ser) c.7352A>G (p.Asn2451Ser) c.7256A>G (p.Asn2419Ser) c.7226A>G (p.Asn2409Ser) c.7151A>G (p.Asn2384Ser) c.7049A>G (p.Asn2350Ser) c.6680A>G (p.Asn2227Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112843123A>T | CA16037698 | APC | c.7583A>T (p.Asn2528Ile) c.*7535A>T (n.*7535A>T) c.7475A>T (p.Asn2492Ile) c.7529A>T (p.Asn2510Ile) c.231-13526A>T c.7559A>T (p.Asn2520Ile) c.7454A>T (p.Asn2485Ile) c.7445A>T (p.Asn2482Ile) c.7406A>T (p.Asn2469Ile) c.7352A>T (p.Asn2451Ile) c.7256A>T (p.Asn2419Ile) c.7226A>T (p.Asn2409Ile) c.7151A>T (p.Asn2384Ile) c.7049A>T (p.Asn2350Ile) c.6680A>T (p.Asn2227Ile) | dbSNP |
| 5 | g.112843124T>A | CA16037699 | APC | c.7584T>A (p.Asn2528Lys) c.*7536T>A (n.*7536T>A) c.7476T>A (p.Asn2492Lys) c.7530T>A (p.Asn2510Lys) c.231-13525T>A c.7560T>A (p.Asn2520Lys) c.7455T>A (p.Asn2485Lys) c.7446T>A (p.Asn2482Lys) c.7407T>A (p.Asn2469Lys) c.7353T>A (p.Asn2451Lys) c.7257T>A (p.Asn2419Lys) c.7227T>A (p.Asn2409Lys) c.7152T>A (p.Asn2384Lys) c.7050T>A (p.Asn2350Lys) c.6681T>A (p.Asn2227Lys) | dbSNP |
| 5 | g.112843124T>C | CA446210879 | APC | c.7584T>C (p.Asn2528=) c.*7536T>C (n.*7536T>C) c.7476T>C (p.Asn2492=) c.7530T>C (p.Asn2510=) c.231-13525T>C c.7560T>C (p.Asn2520=) c.7455T>C (p.Asn2485=) c.7446T>C (p.Asn2482=) c.7407T>C (p.Asn2469=) c.7353T>C (p.Asn2451=) c.7257T>C (p.Asn2419=) c.7227T>C (p.Asn2409=) c.7152T>C (p.Asn2384=) c.7050T>C (p.Asn2350=) c.6681T>C (p.Asn2227=) | ClinVar dbSNP |
| 5 | g.112843124T>G | CA16037700 | APC | c.7584T>G (p.Asn2528Lys) c.*7536T>G (n.*7536T>G) c.7476T>G (p.Asn2492Lys) c.7530T>G (p.Asn2510Lys) c.231-13525T>G c.7560T>G (p.Asn2520Lys) c.7455T>G (p.Asn2485Lys) c.7446T>G (p.Asn2482Lys) c.7407T>G (p.Asn2469Lys) c.7353T>G (p.Asn2451Lys) c.7257T>G (p.Asn2419Lys) c.7227T>G (p.Asn2409Lys) c.7152T>G (p.Asn2384Lys) c.7050T>G (p.Asn2350Lys) c.6681T>G (p.Asn2227Lys) | dbSNP |
| 5 | g.112843125C>A | CA16037701 | APC | c.7585C>A (p.Leu2529Ile) c.*7537C>A (n.*7537C>A) c.7477C>A (p.Leu2493Ile) c.7531C>A (p.Leu2511Ile) c.231-13524C>A c.7561C>A (p.Leu2521Ile) c.7456C>A (p.Leu2486Ile) c.7447C>A (p.Leu2483Ile) c.7408C>A (p.Leu2470Ile) c.7354C>A (p.Leu2452Ile) c.7258C>A (p.Leu2420Ile) c.7228C>A (p.Leu2410Ile) c.7153C>A (p.Leu2385Ile) c.7051C>A (p.Leu2351Ile) c.6682C>A (p.Leu2228Ile) | gnomAD v4 |
| 5 | g.112843125C= | CA1573471563 | APC | c.7585C= (p.Leu2529=) c.*7537C= (n.*7537C=) c.7477C= (p.Leu2493=) c.7531C= (p.Leu2511=) c.231-13524C= c.7561C= (p.Leu2521=) c.7456C= (p.Leu2486=) c.7447C= (p.Leu2483=) c.7408C= (p.Leu2470=) c.7354C= (p.Leu2452=) c.7258C= (p.Leu2420=) c.7228C= (p.Leu2410=) c.7153C= (p.Leu2385=) c.7051C= (p.Leu2351=) c.6682C= (p.Leu2228=) | |
| 5 | g.112843125C>G | CA16037702 | APC | c.7585C>G (p.Leu2529Val) c.*7537C>G (n.*7537C>G) c.7477C>G (p.Leu2493Val) c.7531C>G (p.Leu2511Val) c.231-13524C>G c.7561C>G (p.Leu2521Val) c.7456C>G (p.Leu2486Val) c.7447C>G (p.Leu2483Val) c.7408C>G (p.Leu2470Val) c.7354C>G (p.Leu2452Val) c.7258C>G (p.Leu2420Val) c.7228C>G (p.Leu2410Val) c.7153C>G (p.Leu2385Val) c.7051C>G (p.Leu2351Val) c.6682C>G (p.Leu2228Val) | ClinVar dbSNP |
| 5 | g.112843125C>T | CA013771 | APC | c.7585C>T (p.Leu2529Phe) c.*7537C>T (n.*7537C>T) c.7477C>T (p.Leu2493Phe) c.7531C>T (p.Leu2511Phe) c.231-13524C>T c.7561C>T (p.Leu2521Phe) c.7456C>T (p.Leu2486Phe) c.7447C>T (p.Leu2483Phe) c.7408C>T (p.Leu2470Phe) c.7354C>T (p.Leu2452Phe) c.7258C>T (p.Leu2420Phe) c.7228C>T (p.Leu2410Phe) c.7153C>T (p.Leu2385Phe) c.7051C>T (p.Leu2351Phe) c.6682C>T (p.Leu2228Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112843126T>A | CA16037703 | APC | c.7586T>A (p.Leu2529His) c.*7538T>A (n.*7538T>A) c.7478T>A (p.Leu2493His) c.7532T>A (p.Leu2511His) c.231-13523T>A c.7562T>A (p.Leu2521His) c.7457T>A (p.Leu2486His) c.7448T>A (p.Leu2483His) c.7409T>A (p.Leu2470His) c.7355T>A (p.Leu2452His) c.7259T>A (p.Leu2420His) c.7229T>A (p.Leu2410His) c.7154T>A (p.Leu2385His) c.7052T>A (p.Leu2351His) c.6683T>A (p.Leu2228His) | dbSNP |
| 5 | g.112843126T>C | CA16037704 | APC | c.7586T>C (p.Leu2529Pro) c.*7538T>C (n.*7538T>C) c.7478T>C (p.Leu2493Pro) c.7532T>C (p.Leu2511Pro) c.231-13523T>C c.7562T>C (p.Leu2521Pro) c.7457T>C (p.Leu2486Pro) c.7448T>C (p.Leu2483Pro) c.7409T>C (p.Leu2470Pro) c.7355T>C (p.Leu2452Pro) c.7259T>C (p.Leu2420Pro) c.7229T>C (p.Leu2410Pro) c.7154T>C (p.Leu2385Pro) c.7052T>C (p.Leu2351Pro) c.6683T>C (p.Leu2228Pro) | ClinVar dbSNP |
| 5 | g.112843126T>G | CA16037705 | APC | c.7586T>G (p.Leu2529Arg) c.*7538T>G (n.*7538T>G) c.7478T>G (p.Leu2493Arg) c.7532T>G (p.Leu2511Arg) c.231-13523T>G c.7562T>G (p.Leu2521Arg) c.7457T>G (p.Leu2486Arg) c.7448T>G (p.Leu2483Arg) c.7409T>G (p.Leu2470Arg) c.7355T>G (p.Leu2452Arg) c.7259T>G (p.Leu2420Arg) c.7229T>G (p.Leu2410Arg) c.7154T>G (p.Leu2385Arg) c.7052T>G (p.Leu2351Arg) c.6683T>G (p.Leu2228Arg) | |
| 5 | g.112843126T= | CA1573471575 | APC | c.7586T= (p.Leu2529=) c.*7538T= (n.*7538T=) c.7478T= (p.Leu2493=) c.7532T= (p.Leu2511=) c.231-13523T= c.7562T= (p.Leu2521=) c.7457T= (p.Leu2486=) c.7448T= (p.Leu2483=) c.7409T= (p.Leu2470=) c.7355T= (p.Leu2452=) c.7259T= (p.Leu2420=) c.7229T= (p.Leu2410=) c.7154T= (p.Leu2385=) c.7052T= (p.Leu2351=) c.6683T= (p.Leu2228=) | |
| 5 | g.112843127C>A | CA446210880 | APC | c.7587C>A (p.Leu2529=) c.*7539C>A (n.*7539C>A) c.7479C>A (p.Leu2493=) c.7533C>A (p.Leu2511=) c.231-13522C>A c.7563C>A (p.Leu2521=) c.7458C>A (p.Leu2486=) c.7449C>A (p.Leu2483=) c.7410C>A (p.Leu2470=) c.7356C>A (p.Leu2452=) c.7260C>A (p.Leu2420=) c.7230C>A (p.Leu2410=) c.7155C>A (p.Leu2385=) c.7053C>A (p.Leu2351=) c.6684C>A (p.Leu2228=) | dbSNP |
| 5 | g.112843127C= | CA1573471600 | APC | c.7587C= (p.Leu2529=) c.*7539C= (n.*7539C=) c.7479C= (p.Leu2493=) c.7533C= (p.Leu2511=) c.231-13522C= c.7563C= (p.Leu2521=) c.7458C= (p.Leu2486=) c.7449C= (p.Leu2483=) c.7410C= (p.Leu2470=) c.7356C= (p.Leu2452=) c.7260C= (p.Leu2420=) c.7230C= (p.Leu2410=) c.7155C= (p.Leu2385=) c.7053C= (p.Leu2351=) c.6684C= (p.Leu2228=) |