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.112843012C>A | CA16037475 | APC | c.7472C>A (p.Ser2491Tyr) c.*7424C>A (n.*7424C>A) c.7364C>A (p.Ser2455Tyr) c.7418C>A (p.Ser2473Tyr) c.231-13637C>A c.7448C>A (p.Ser2483Tyr) c.7343C>A (p.Ser2448Tyr) c.7334C>A (p.Ser2445Tyr) c.7295C>A (p.Ser2432Tyr) c.7241C>A (p.Ser2414Tyr) c.7145C>A (p.Ser2382Tyr) c.7115C>A (p.Ser2372Tyr) c.7040C>A (p.Ser2347Tyr) c.6938C>A (p.Ser2313Tyr) c.6569C>A (p.Ser2190Tyr) | |
| 5 | g.112843012C= | CA1573470538 | APC | c.7472C= (p.Ser2491=) c.*7424C= (n.*7424C=) c.7364C= (p.Ser2455=) c.7418C= (p.Ser2473=) c.231-13637C= c.7448C= (p.Ser2483=) c.7343C= (p.Ser2448=) c.7334C= (p.Ser2445=) c.7295C= (p.Ser2432=) c.7241C= (p.Ser2414=) c.7145C= (p.Ser2382=) c.7115C= (p.Ser2372=) c.7040C= (p.Ser2347=) c.6938C= (p.Ser2313=) c.6569C= (p.Ser2190=) | |
| 5 | g.112843012C>G | CA16037476 | APC | c.7472C>G (p.Ser2491Cys) c.*7424C>G (n.*7424C>G) c.7364C>G (p.Ser2455Cys) c.7418C>G (p.Ser2473Cys) c.231-13637C>G c.7448C>G (p.Ser2483Cys) c.7343C>G (p.Ser2448Cys) c.7334C>G (p.Ser2445Cys) c.7295C>G (p.Ser2432Cys) c.7241C>G (p.Ser2414Cys) c.7145C>G (p.Ser2382Cys) c.7115C>G (p.Ser2372Cys) c.7040C>G (p.Ser2347Cys) c.6938C>G (p.Ser2313Cys) c.6569C>G (p.Ser2190Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843012C>T | CA16037477 | APC | c.7472C>T (p.Ser2491Phe) c.*7424C>T (n.*7424C>T) c.7364C>T (p.Ser2455Phe) c.7418C>T (p.Ser2473Phe) c.231-13637C>T c.7448C>T (p.Ser2483Phe) c.7343C>T (p.Ser2448Phe) c.7334C>T (p.Ser2445Phe) c.7295C>T (p.Ser2432Phe) c.7241C>T (p.Ser2414Phe) c.7145C>T (p.Ser2382Phe) c.7115C>T (p.Ser2372Phe) c.7040C>T (p.Ser2347Phe) c.6938C>T (p.Ser2313Phe) c.6569C>T (p.Ser2190Phe) | ClinVar dbSNP |
| 5 | g.112843013T>A | CA125167819 | APC | c.7473T>A (p.Ser2491=) c.*7425T>A (n.*7425T>A) c.7365T>A (p.Ser2455=) c.7419T>A (p.Ser2473=) c.231-13636T>A c.7449T>A (p.Ser2483=) c.7344T>A (p.Ser2448=) c.7335T>A (p.Ser2445=) c.7296T>A (p.Ser2432=) c.7242T>A (p.Ser2414=) c.7146T>A (p.Ser2382=) c.7116T>A (p.Ser2372=) c.7041T>A (p.Ser2347=) c.6939T>A (p.Ser2313=) c.6570T>A (p.Ser2190=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843013T>C | CA446210608 | APC | c.7473T>C (p.Ser2491=) c.*7425T>C (n.*7425T>C) c.7365T>C (p.Ser2455=) c.7419T>C (p.Ser2473=) c.231-13636T>C c.7449T>C (p.Ser2483=) c.7344T>C (p.Ser2448=) c.7335T>C (p.Ser2445=) c.7296T>C (p.Ser2432=) c.7242T>C (p.Ser2414=) c.7146T>C (p.Ser2382=) c.7116T>C (p.Ser2372=) c.7041T>C (p.Ser2347=) c.6939T>C (p.Ser2313=) c.6570T>C (p.Ser2190=) | gnomAD v4 |
| 5 | g.112843013T>G | CA446210607 | APC | c.7473T>G (p.Ser2491=) c.*7425T>G (n.*7425T>G) c.7365T>G (p.Ser2455=) c.7419T>G (p.Ser2473=) c.231-13636T>G c.7449T>G (p.Ser2483=) c.7344T>G (p.Ser2448=) c.7335T>G (p.Ser2445=) c.7296T>G (p.Ser2432=) c.7242T>G (p.Ser2414=) c.7146T>G (p.Ser2382=) c.7116T>G (p.Ser2372=) c.7041T>G (p.Ser2347=) c.6939T>G (p.Ser2313=) c.6570T>G (p.Ser2190=) | |
| 5 | g.112843013T= | CA1573470549 | APC | c.7473T= (p.Ser2491=) c.*7425T= (n.*7425T=) c.7365T= (p.Ser2455=) c.7419T= (p.Ser2473=) c.231-13636T= c.7449T= (p.Ser2483=) c.7344T= (p.Ser2448=) c.7335T= (p.Ser2445=) c.7296T= (p.Ser2432=) c.7242T= (p.Ser2414=) c.7146T= (p.Ser2382=) c.7116T= (p.Ser2372=) c.7041T= (p.Ser2347=) c.6939T= (p.Ser2313=) c.6570T= (p.Ser2190=) | |
| 5 | g.112843014C>A | CA16037478 | APC | c.7474C>A (p.Pro2492Thr) c.*7426C>A (n.*7426C>A) c.7366C>A (p.Pro2456Thr) c.7420C>A (p.Pro2474Thr) c.231-13635C>A c.7450C>A (p.Pro2484Thr) c.7345C>A (p.Pro2449Thr) c.7336C>A (p.Pro2446Thr) c.7297C>A (p.Pro2433Thr) c.7243C>A (p.Pro2415Thr) c.7147C>A (p.Pro2383Thr) c.7117C>A (p.Pro2373Thr) c.7042C>A (p.Pro2348Thr) c.6940C>A (p.Pro2314Thr) c.6571C>A (p.Pro2191Thr) | dbSNP |
| 5 | g.112843014C>G | CA16037479 | APC | c.7474C>G (p.Pro2492Ala) c.*7426C>G (n.*7426C>G) c.7366C>G (p.Pro2456Ala) c.7420C>G (p.Pro2474Ala) c.231-13635C>G c.7450C>G (p.Pro2484Ala) c.7345C>G (p.Pro2449Ala) c.7336C>G (p.Pro2446Ala) c.7297C>G (p.Pro2433Ala) c.7243C>G (p.Pro2415Ala) c.7147C>G (p.Pro2383Ala) c.7117C>G (p.Pro2373Ala) c.7042C>G (p.Pro2348Ala) c.6940C>G (p.Pro2314Ala) c.6571C>G (p.Pro2191Ala) | dbSNP |
| 5 | g.112843014C>T | CA16037480 | APC | c.7474C>T (p.Pro2492Ser) c.*7426C>T (n.*7426C>T) c.7366C>T (p.Pro2456Ser) c.7420C>T (p.Pro2474Ser) c.231-13635C>T c.7450C>T (p.Pro2484Ser) c.7345C>T (p.Pro2449Ser) c.7336C>T (p.Pro2446Ser) c.7297C>T (p.Pro2433Ser) c.7243C>T (p.Pro2415Ser) c.7147C>T (p.Pro2383Ser) c.7117C>T (p.Pro2373Ser) c.7042C>T (p.Pro2348Ser) c.6940C>T (p.Pro2314Ser) c.6571C>T (p.Pro2191Ser) | dbSNP |
| 5 | g.112843015C>A | CA16037481 | APC | c.7475C>A (p.Pro2492His) c.*7427C>A (n.*7427C>A) c.7367C>A (p.Pro2456His) c.7421C>A (p.Pro2474His) c.231-13634C>A c.7451C>A (p.Pro2484His) c.7346C>A (p.Pro2449His) c.7337C>A (p.Pro2446His) c.7298C>A (p.Pro2433His) c.7244C>A (p.Pro2415His) c.7148C>A (p.Pro2383His) c.7118C>A (p.Pro2373His) c.7043C>A (p.Pro2348His) c.6941C>A (p.Pro2314His) c.6572C>A (p.Pro2191His) | dbSNP |
| 5 | g.112843015C>G | CA16037482 | APC | c.7475C>G (p.Pro2492Arg) c.*7427C>G (n.*7427C>G) c.7367C>G (p.Pro2456Arg) c.7421C>G (p.Pro2474Arg) c.231-13634C>G c.7451C>G (p.Pro2484Arg) c.7346C>G (p.Pro2449Arg) c.7337C>G (p.Pro2446Arg) c.7298C>G (p.Pro2433Arg) c.7244C>G (p.Pro2415Arg) c.7148C>G (p.Pro2383Arg) c.7118C>G (p.Pro2373Arg) c.7043C>G (p.Pro2348Arg) c.6941C>G (p.Pro2314Arg) c.6572C>G (p.Pro2191Arg) | dbSNP |
| 5 | g.112843015C>T | CA16037483 | APC | c.7475C>T (p.Pro2492Leu) c.*7427C>T (n.*7427C>T) c.7367C>T (p.Pro2456Leu) c.7421C>T (p.Pro2474Leu) c.231-13634C>T c.7451C>T (p.Pro2484Leu) c.7346C>T (p.Pro2449Leu) c.7337C>T (p.Pro2446Leu) c.7298C>T (p.Pro2433Leu) c.7244C>T (p.Pro2415Leu) c.7148C>T (p.Pro2383Leu) c.7118C>T (p.Pro2373Leu) c.7043C>T (p.Pro2348Leu) c.6941C>T (p.Pro2314Leu) c.6572C>T (p.Pro2191Leu) | dbSNP |
| 5 | g.112843016C>A | CA446210617 | APC | c.7476C>A (p.Pro2492=) c.*7428C>A (n.*7428C>A) c.7368C>A (p.Pro2456=) c.7422C>A (p.Pro2474=) c.231-13633C>A c.7452C>A (p.Pro2484=) c.7347C>A (p.Pro2449=) c.7338C>A (p.Pro2446=) c.7299C>A (p.Pro2433=) c.7245C>A (p.Pro2415=) c.7149C>A (p.Pro2383=) c.7119C>A (p.Pro2373=) c.7044C>A (p.Pro2348=) c.6942C>A (p.Pro2314=) c.6573C>A (p.Pro2191=) | dbSNP |
| 5 | g.112843016C>G | CA446210616 | APC | c.7476C>G (p.Pro2492=) c.*7428C>G (n.*7428C>G) c.7368C>G (p.Pro2456=) c.7422C>G (p.Pro2474=) c.231-13633C>G c.7452C>G (p.Pro2484=) c.7347C>G (p.Pro2449=) c.7338C>G (p.Pro2446=) c.7299C>G (p.Pro2433=) c.7245C>G (p.Pro2415=) c.7149C>G (p.Pro2383=) c.7119C>G (p.Pro2373=) c.7044C>G (p.Pro2348=) c.6942C>G (p.Pro2314=) c.6573C>G (p.Pro2191=) | dbSNP |
| 5 | g.112843016C>T | CA446210615 | APC | c.7476C>T (p.Pro2492=) c.*7428C>T (n.*7428C>T) c.7368C>T (p.Pro2456=) c.7422C>T (p.Pro2474=) c.231-13633C>T c.7452C>T (p.Pro2484=) c.7347C>T (p.Pro2449=) c.7338C>T (p.Pro2446=) c.7299C>T (p.Pro2433=) c.7245C>T (p.Pro2415=) c.7149C>T (p.Pro2383=) c.7119C>T (p.Pro2373=) c.7044C>T (p.Pro2348=) c.6942C>T (p.Pro2314=) c.6573C>T (p.Pro2191=) | gnomAD v4 |
| 5 | g.112843017A= | CA1573470564 | APC | c.7477A= (p.Thr2493=) c.*7429A= (n.*7429A=) c.7369A= (p.Thr2457=) c.7423A= (p.Thr2475=) c.231-13632A= c.7453A= (p.Thr2485=) c.7348A= (p.Thr2450=) c.7339A= (p.Thr2447=) c.7300A= (p.Thr2434=) c.7246A= (p.Thr2416=) c.7150A= (p.Thr2384=) c.7120A= (p.Thr2374=) c.7045A= (p.Thr2349=) c.6943A= (p.Thr2315=) c.6574A= (p.Thr2192=) | |
| 5 | g.112843017A>C | CA16037484 | APC | c.7477A>C (p.Thr2493Pro) c.*7429A>C (n.*7429A>C) c.7369A>C (p.Thr2457Pro) c.7423A>C (p.Thr2475Pro) c.231-13632A>C c.7453A>C (p.Thr2485Pro) c.7348A>C (p.Thr2450Pro) c.7339A>C (p.Thr2447Pro) c.7300A>C (p.Thr2434Pro) c.7246A>C (p.Thr2416Pro) c.7150A>C (p.Thr2384Pro) c.7120A>C (p.Thr2374Pro) c.7045A>C (p.Thr2349Pro) c.6943A>C (p.Thr2315Pro) c.6574A>C (p.Thr2192Pro) | dbSNP |
| 5 | g.112843017A>G | CA16037485 | APC | c.7477A>G (p.Thr2493Ala) c.*7429A>G (n.*7429A>G) c.7369A>G (p.Thr2457Ala) c.7423A>G (p.Thr2475Ala) c.231-13632A>G c.7453A>G (p.Thr2485Ala) c.7348A>G (p.Thr2450Ala) c.7339A>G (p.Thr2447Ala) c.7300A>G (p.Thr2434Ala) c.7246A>G (p.Thr2416Ala) c.7150A>G (p.Thr2384Ala) c.7120A>G (p.Thr2374Ala) c.7045A>G (p.Thr2349Ala) c.6943A>G (p.Thr2315Ala) c.6574A>G (p.Thr2192Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843017A>T | CA16037486 | APC | c.7477A>T (p.Thr2493Ser) c.*7429A>T (n.*7429A>T) c.7369A>T (p.Thr2457Ser) c.7423A>T (p.Thr2475Ser) c.231-13632A>T c.7453A>T (p.Thr2485Ser) c.7348A>T (p.Thr2450Ser) c.7339A>T (p.Thr2447Ser) c.7300A>T (p.Thr2434Ser) c.7246A>T (p.Thr2416Ser) c.7150A>T (p.Thr2384Ser) c.7120A>T (p.Thr2374Ser) c.7045A>T (p.Thr2349Ser) c.6943A>T (p.Thr2315Ser) c.6574A>T (p.Thr2192Ser) | dbSNP gnomAD v4 |
| 5 | g.112843018C>A | CA16037487 | APC | c.7478C>A (p.Thr2493Asn) c.*7430C>A (n.*7430C>A) c.7370C>A (p.Thr2457Asn) c.7424C>A (p.Thr2475Asn) c.231-13631C>A c.7454C>A (p.Thr2485Asn) c.7349C>A (p.Thr2450Asn) c.7340C>A (p.Thr2447Asn) c.7301C>A (p.Thr2434Asn) c.7247C>A (p.Thr2416Asn) c.7151C>A (p.Thr2384Asn) c.7121C>A (p.Thr2374Asn) c.7046C>A (p.Thr2349Asn) c.6944C>A (p.Thr2315Asn) c.6575C>A (p.Thr2192Asn) | dbSNP |
| 5 | g.112843018C= | CA1573470588 | APC | c.7478C= (p.Thr2493=) c.*7430C= (n.*7430C=) c.7370C= (p.Thr2457=) c.7424C= (p.Thr2475=) c.231-13631C= c.7454C= (p.Thr2485=) c.7349C= (p.Thr2450=) c.7340C= (p.Thr2447=) c.7301C= (p.Thr2434=) c.7247C= (p.Thr2416=) c.7151C= (p.Thr2384=) c.7121C= (p.Thr2374=) c.7046C= (p.Thr2349=) c.6944C= (p.Thr2315=) c.6575C= (p.Thr2192=) | |
| 5 | g.112843018C>G | CA16037488 | APC | c.7478C>G (p.Thr2493Ser) c.*7430C>G (n.*7430C>G) c.7370C>G (p.Thr2457Ser) c.7424C>G (p.Thr2475Ser) c.231-13631C>G c.7454C>G (p.Thr2485Ser) c.7349C>G (p.Thr2450Ser) c.7340C>G (p.Thr2447Ser) c.7301C>G (p.Thr2434Ser) c.7247C>G (p.Thr2416Ser) c.7151C>G (p.Thr2384Ser) c.7121C>G (p.Thr2374Ser) c.7046C>G (p.Thr2349Ser) c.6944C>G (p.Thr2315Ser) c.6575C>G (p.Thr2192Ser) | ClinVar dbSNP |
| 5 | g.112843018C>T | CA16037489 | APC | c.7478C>T (p.Thr2493Ile) c.*7430C>T (n.*7430C>T) c.7370C>T (p.Thr2457Ile) c.7424C>T (p.Thr2475Ile) c.231-13631C>T c.7454C>T (p.Thr2485Ile) c.7349C>T (p.Thr2450Ile) c.7340C>T (p.Thr2447Ile) c.7301C>T (p.Thr2434Ile) c.7247C>T (p.Thr2416Ile) c.7151C>T (p.Thr2384Ile) c.7121C>T (p.Thr2374Ile) c.7046C>T (p.Thr2349Ile) c.6944C>T (p.Thr2315Ile) c.6575C>T (p.Thr2192Ile) | ClinVar dbSNP |
| 5 | g.112843019T>A | CA446210625 | APC | c.7479T>A (p.Thr2493=) c.*7431T>A (n.*7431T>A) c.7371T>A (p.Thr2457=) c.7425T>A (p.Thr2475=) c.231-13630T>A c.7455T>A (p.Thr2485=) c.7350T>A (p.Thr2450=) c.7341T>A (p.Thr2447=) c.7302T>A (p.Thr2434=) c.7248T>A (p.Thr2416=) c.7152T>A (p.Thr2384=) c.7122T>A (p.Thr2374=) c.7047T>A (p.Thr2349=) c.6945T>A (p.Thr2315=) c.6576T>A (p.Thr2192=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112843019T>C | CA446210633 | APC | c.7479T>C (p.Thr2493=) c.*7431T>C (n.*7431T>C) c.7371T>C (p.Thr2457=) c.7425T>C (p.Thr2475=) c.231-13630T>C c.7455T>C (p.Thr2485=) c.7350T>C (p.Thr2450=) c.7341T>C (p.Thr2447=) c.7302T>C (p.Thr2434=) c.7248T>C (p.Thr2416=) c.7152T>C (p.Thr2384=) c.7122T>C (p.Thr2374=) c.7047T>C (p.Thr2349=) c.6945T>C (p.Thr2315=) c.6576T>C (p.Thr2192=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843019T>G | CA446210627 | APC | c.7479T>G (p.Thr2493=) c.*7431T>G (n.*7431T>G) c.7371T>G (p.Thr2457=) c.7425T>G (p.Thr2475=) c.231-13630T>G c.7455T>G (p.Thr2485=) c.7350T>G (p.Thr2450=) c.7341T>G (p.Thr2447=) c.7302T>G (p.Thr2434=) c.7248T>G (p.Thr2416=) c.7152T>G (p.Thr2384=) c.7122T>G (p.Thr2374=) c.7047T>G (p.Thr2349=) c.6945T>G (p.Thr2315=) c.6576T>G (p.Thr2192=) | |
| 5 | g.112843019T= | CA1573470605 | APC | c.7479T= (p.Thr2493=) c.*7431T= (n.*7431T=) c.7371T= (p.Thr2457=) c.7425T= (p.Thr2475=) c.231-13630T= c.7455T= (p.Thr2485=) c.7350T= (p.Thr2450=) c.7341T= (p.Thr2447=) c.7302T= (p.Thr2434=) c.7248T= (p.Thr2416=) c.7152T= (p.Thr2384=) c.7122T= (p.Thr2374=) c.7047T= (p.Thr2349=) c.6945T= (p.Thr2315=) c.6576T= (p.Thr2192=) | |
| 5 | g.112843020A= | CA1573470625 | APC | c.7480A= (p.Arg2494=) c.*7432A= (n.*7432A=) c.7372A= (p.Arg2458=) c.7426A= (p.Arg2476=) c.231-13629A= c.7456A= (p.Arg2486=) c.7351A= (p.Arg2451=) c.7342A= (p.Arg2448=) c.7303A= (p.Arg2435=) c.7249A= (p.Arg2417=) c.7153A= (p.Arg2385=) c.7123A= (p.Arg2375=) c.7048A= (p.Arg2350=) c.6946A= (p.Arg2316=) c.6577A= (p.Arg2193=) | |
| 5 | g.112843020A>C | CA446210636 | APC | c.7480A>C (p.Arg2494=) c.*7432A>C (n.*7432A>C) c.7372A>C (p.Arg2458=) c.7426A>C (p.Arg2476=) c.231-13629A>C c.7456A>C (p.Arg2486=) c.7351A>C (p.Arg2451=) c.7342A>C (p.Arg2448=) c.7303A>C (p.Arg2435=) c.7249A>C (p.Arg2417=) c.7153A>C (p.Arg2385=) c.7123A>C (p.Arg2375=) c.7048A>C (p.Arg2350=) c.6946A>C (p.Arg2316=) c.6577A>C (p.Arg2193=) | |
| 5 | g.112843020A>G | CA16037490 | APC | c.7480A>G (p.Arg2494Gly) c.*7432A>G (n.*7432A>G) c.7372A>G (p.Arg2458Gly) c.7426A>G (p.Arg2476Gly) c.231-13629A>G c.7456A>G (p.Arg2486Gly) c.7351A>G (p.Arg2451Gly) c.7342A>G (p.Arg2448Gly) c.7303A>G (p.Arg2435Gly) c.7249A>G (p.Arg2417Gly) c.7153A>G (p.Arg2385Gly) c.7123A>G (p.Arg2375Gly) c.7048A>G (p.Arg2350Gly) c.6946A>G (p.Arg2316Gly) c.6577A>G (p.Arg2193Gly) | ClinVar dbSNP |
| 5 | g.112843020A>T | CA16037491 | APC | c.7480A>T (p.Arg2494Trp) c.*7432A>T (n.*7432A>T) c.7372A>T (p.Arg2458Trp) c.7426A>T (p.Arg2476Trp) c.231-13629A>T c.7456A>T (p.Arg2486Trp) c.7351A>T (p.Arg2451Trp) c.7342A>T (p.Arg2448Trp) c.7303A>T (p.Arg2435Trp) c.7249A>T (p.Arg2417Trp) c.7153A>T (p.Arg2385Trp) c.7123A>T (p.Arg2375Trp) c.7048A>T (p.Arg2350Trp) c.6946A>T (p.Arg2316Trp) c.6577A>T (p.Arg2193Trp) | dbSNP |
| 5 | g.112843021G>A | CA16037492 | APC | c.7481G>A (p.Arg2494Lys) c.*7433G>A (n.*7433G>A) c.7373G>A (p.Arg2458Lys) c.7427G>A (p.Arg2476Lys) c.231-13628G>A c.7457G>A (p.Arg2486Lys) c.7352G>A (p.Arg2451Lys) c.7343G>A (p.Arg2448Lys) c.7304G>A (p.Arg2435Lys) c.7250G>A (p.Arg2417Lys) c.7154G>A (p.Arg2385Lys) c.7124G>A (p.Arg2375Lys) c.7049G>A (p.Arg2350Lys) c.6947G>A (p.Arg2316Lys) c.6578G>A (p.Arg2193Lys) | ClinVar dbSNP |
| 5 | g.112843021G>C | CA16037493 | APC | c.7481G>C (p.Arg2494Thr) c.*7433G>C (n.*7433G>C) c.7373G>C (p.Arg2458Thr) c.7427G>C (p.Arg2476Thr) c.231-13628G>C c.7457G>C (p.Arg2486Thr) c.7352G>C (p.Arg2451Thr) c.7343G>C (p.Arg2448Thr) c.7304G>C (p.Arg2435Thr) c.7250G>C (p.Arg2417Thr) c.7154G>C (p.Arg2385Thr) c.7124G>C (p.Arg2375Thr) c.7049G>C (p.Arg2350Thr) c.6947G>C (p.Arg2316Thr) c.6578G>C (p.Arg2193Thr) | ClinVar dbSNP |
| 5 | g.112843021G= | CA1573470637 | APC | c.7481G= (p.Arg2494=) c.*7433G= (n.*7433G=) c.7373G= (p.Arg2458=) c.7427G= (p.Arg2476=) c.231-13628G= c.7457G= (p.Arg2486=) c.7352G= (p.Arg2451=) c.7343G= (p.Arg2448=) c.7304G= (p.Arg2435=) c.7250G= (p.Arg2417=) c.7154G= (p.Arg2385=) c.7124G= (p.Arg2375=) c.7049G= (p.Arg2350=) c.6947G= (p.Arg2316=) c.6578G= (p.Arg2193=) | |
| 5 | g.112843021G>T | CA16037494 | APC | c.7481G>T (p.Arg2494Met) c.*7433G>T (n.*7433G>T) c.7373G>T (p.Arg2458Met) c.7427G>T (p.Arg2476Met) c.231-13628G>T c.7457G>T (p.Arg2486Met) c.7352G>T (p.Arg2451Met) c.7343G>T (p.Arg2448Met) c.7304G>T (p.Arg2435Met) c.7250G>T (p.Arg2417Met) c.7154G>T (p.Arg2385Met) c.7124G>T (p.Arg2375Met) c.7049G>T (p.Arg2350Met) c.6947G>T (p.Arg2316Met) c.6578G>T (p.Arg2193Met) | dbSNP |
| 5 | g.112843022del | CA2582341625 | APC | c.7482del (p.Arg2494SerfsTer9) c.*7434del (n.*7434del) c.7374del (p.Arg2458SerfsTer9) c.7428del (p.Arg2476SerfsTer9) c.231-13627del c.7458del (p.Arg2486SerfsTer9) c.7353del (p.Arg2451SerfsTer9) c.7344del (p.Arg2448SerfsTer9) c.7305del (p.Arg2435SerfsTer9) c.7251del (p.Arg2417SerfsTer9) c.7155del (p.Arg2385SerfsTer9) c.7125del (p.Arg2375SerfsTer9) c.7050del (p.Arg2350SerfsTer9) c.6948del (p.Arg2316SerfsTer9) c.6579del (p.Arg2193SerfsTer9) | ClinVar |
| 5 | g.112843022G>A | CA446210638 | APC | c.7482G>A (p.Arg2494=) c.*7434G>A (n.*7434G>A) c.7374G>A (p.Arg2458=) c.7428G>A (p.Arg2476=) c.231-13627G>A c.7458G>A (p.Arg2486=) c.7353G>A (p.Arg2451=) c.7344G>A (p.Arg2448=) c.7305G>A (p.Arg2435=) c.7251G>A (p.Arg2417=) c.7155G>A (p.Arg2385=) c.7125G>A (p.Arg2375=) c.7050G>A (p.Arg2350=) c.6948G>A (p.Arg2316=) c.6579G>A (p.Arg2193=) | ClinVar dbSNP |
| 5 | g.112843022G>C | CA16037495 | APC | c.7482G>C (p.Arg2494Ser) c.*7434G>C (n.*7434G>C) c.7374G>C (p.Arg2458Ser) c.7428G>C (p.Arg2476Ser) c.231-13627G>C c.7458G>C (p.Arg2486Ser) c.7353G>C (p.Arg2451Ser) c.7344G>C (p.Arg2448Ser) c.7305G>C (p.Arg2435Ser) c.7251G>C (p.Arg2417Ser) c.7155G>C (p.Arg2385Ser) c.7125G>C (p.Arg2375Ser) c.7050G>C (p.Arg2350Ser) c.6948G>C (p.Arg2316Ser) c.6579G>C (p.Arg2193Ser) | dbSNP |
| 5 | g.112843022G>T | CA16037496 | APC | c.7482G>T (p.Arg2494Ser) c.*7434G>T (n.*7434G>T) c.7374G>T (p.Arg2458Ser) c.7428G>T (p.Arg2476Ser) c.231-13627G>T c.7458G>T (p.Arg2486Ser) c.7353G>T (p.Arg2451Ser) c.7344G>T (p.Arg2448Ser) c.7305G>T (p.Arg2435Ser) c.7251G>T (p.Arg2417Ser) c.7155G>T (p.Arg2385Ser) c.7125G>T (p.Arg2375Ser) c.7050G>T (p.Arg2350Ser) c.6948G>T (p.Arg2316Ser) c.6579G>T (p.Arg2193Ser) | dbSNP |
| 5 | g.112843023T>A | CA16037497 | APC | c.7483T>A (p.Ser2495Thr) c.*7435T>A (n.*7435T>A) c.7375T>A (p.Ser2459Thr) c.7429T>A (p.Ser2477Thr) c.231-13626T>A c.7459T>A (p.Ser2487Thr) c.7354T>A (p.Ser2452Thr) c.7345T>A (p.Ser2449Thr) c.7306T>A (p.Ser2436Thr) c.7252T>A (p.Ser2418Thr) c.7156T>A (p.Ser2386Thr) c.7126T>A (p.Ser2376Thr) c.7051T>A (p.Ser2351Thr) c.6949T>A (p.Ser2317Thr) c.6580T>A (p.Ser2194Thr) | ClinVar dbSNP |
| 5 | g.112843023T>C | CA16037498 | APC | c.7483T>C (p.Ser2495Pro) c.*7435T>C (n.*7435T>C) c.7375T>C (p.Ser2459Pro) c.7429T>C (p.Ser2477Pro) c.231-13626T>C c.7459T>C (p.Ser2487Pro) c.7354T>C (p.Ser2452Pro) c.7345T>C (p.Ser2449Pro) c.7306T>C (p.Ser2436Pro) c.7252T>C (p.Ser2418Pro) c.7156T>C (p.Ser2386Pro) c.7126T>C (p.Ser2376Pro) c.7051T>C (p.Ser2351Pro) c.6949T>C (p.Ser2317Pro) c.6580T>C (p.Ser2194Pro) | |
| 5 | g.112843023T>G | CA16037499 | APC | c.7483T>G (p.Ser2495Ala) c.*7435T>G (n.*7435T>G) c.7375T>G (p.Ser2459Ala) c.7429T>G (p.Ser2477Ala) c.231-13626T>G c.7459T>G (p.Ser2487Ala) c.7354T>G (p.Ser2452Ala) c.7345T>G (p.Ser2449Ala) c.7306T>G (p.Ser2436Ala) c.7252T>G (p.Ser2418Ala) c.7156T>G (p.Ser2386Ala) c.7126T>G (p.Ser2376Ala) c.7051T>G (p.Ser2351Ala) c.6949T>G (p.Ser2317Ala) c.6580T>G (p.Ser2194Ala) | |
| 5 | g.112843023T= | CA1573470663 | APC | c.7483T= (p.Ser2495=) c.*7435T= (n.*7435T=) c.7375T= (p.Ser2459=) c.7429T= (p.Ser2477=) c.231-13626T= c.7459T= (p.Ser2487=) c.7354T= (p.Ser2452=) c.7345T= (p.Ser2449=) c.7306T= (p.Ser2436=) c.7252T= (p.Ser2418=) c.7156T= (p.Ser2386=) c.7126T= (p.Ser2376=) c.7051T= (p.Ser2351=) c.6949T= (p.Ser2317=) c.6580T= (p.Ser2194=) | |
| 5 | g.112843023_112843024delinsTC | CA1573470662 | APC | c.7483_7484delinsTC (p.Ser2495=) c.*7435_*7436delinsTC (n.*7435_*7436delinsTC) c.7375_7376delinsTC (p.Ser2459=) c.7429_7430delinsTC (p.Ser2477=) c.231-13626_231-13625delinsTC c.7459_7460delinsTC (p.Ser2487=) c.7354_7355delinsTC (p.Ser2452=) c.7345_7346delinsTC (p.Ser2449=) c.7306_7307delinsTC (p.Ser2436=) c.7252_7253delinsTC (p.Ser2418=) c.7156_7157delinsTC (p.Ser2386=) c.7126_7127delinsTC (p.Ser2376=) c.7051_7052delinsTC (p.Ser2351=) c.6949_6950delinsTC (p.Ser2317=) c.6580_6581delinsTC (p.Ser2194=) | |
| 5 | g.112843024C>A | CA16037500 | APC | c.7484C>A (p.Ser2495Tyr) c.*7436C>A (n.*7436C>A) c.7376C>A (p.Ser2459Tyr) c.7430C>A (p.Ser2477Tyr) c.231-13625C>A c.7460C>A (p.Ser2487Tyr) c.7355C>A (p.Ser2452Tyr) c.7346C>A (p.Ser2449Tyr) c.7307C>A (p.Ser2436Tyr) c.7253C>A (p.Ser2418Tyr) c.7157C>A (p.Ser2386Tyr) c.7127C>A (p.Ser2376Tyr) c.7052C>A (p.Ser2351Tyr) c.6950C>A (p.Ser2317Tyr) c.6581C>A (p.Ser2194Tyr) | dbSNP |
| 5 | g.112843024C>G | CA16037501 | APC | c.7484C>G (p.Ser2495Cys) c.*7436C>G (n.*7436C>G) c.7376C>G (p.Ser2459Cys) c.7430C>G (p.Ser2477Cys) c.231-13625C>G c.7460C>G (p.Ser2487Cys) c.7355C>G (p.Ser2452Cys) c.7346C>G (p.Ser2449Cys) c.7307C>G (p.Ser2436Cys) c.7253C>G (p.Ser2418Cys) c.7157C>G (p.Ser2386Cys) c.7127C>G (p.Ser2376Cys) c.7052C>G (p.Ser2351Cys) c.6950C>G (p.Ser2317Cys) c.6581C>G (p.Ser2194Cys) | dbSNP |
| 5 | g.112843024C>T | CA16037502 | APC | c.7484C>T (p.Ser2495Phe) c.*7436C>T (n.*7436C>T) c.7376C>T (p.Ser2459Phe) c.7430C>T (p.Ser2477Phe) c.231-13625C>T c.7460C>T (p.Ser2487Phe) c.7355C>T (p.Ser2452Phe) c.7346C>T (p.Ser2449Phe) c.7307C>T (p.Ser2436Phe) c.7253C>T (p.Ser2418Phe) c.7157C>T (p.Ser2386Phe) c.7127C>T (p.Ser2376Phe) c.7052C>T (p.Ser2351Phe) c.6950C>T (p.Ser2317Phe) c.6581C>T (p.Ser2194Phe) | ClinVar dbSNP |
| 5 | g.112843026del | CA915943522 | APC | c.7486del (p.Gln2496ArgfsTer7) c.*7438del (n.*7438del) c.7378del (p.Gln2460ArgfsTer7) c.7432del (p.Gln2478ArgfsTer7) c.231-13623del c.7462del (p.Gln2488ArgfsTer7) c.7357del (p.Gln2453ArgfsTer7) c.7348del (p.Gln2450ArgfsTer7) c.7309del (p.Gln2437ArgfsTer7) c.7255del (p.Gln2419ArgfsTer7) c.7159del (p.Gln2387ArgfsTer7) c.7129del (p.Gln2377ArgfsTer7) c.7054del (p.Gln2352ArgfsTer7) c.6952del (p.Gln2318ArgfsTer7) c.6583del (p.Gln2195ArgfsTer7) | ClinVar dbSNP |