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.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 |
| 5 | g.112843025C>A | CA446210647 | APC | c.7485C>A (p.Ser2495=) c.*7437C>A (n.*7437C>A) c.7377C>A (p.Ser2459=) c.7431C>A (p.Ser2477=) c.231-13624C>A c.7461C>A (p.Ser2487=) c.7356C>A (p.Ser2452=) c.7347C>A (p.Ser2449=) c.7308C>A (p.Ser2436=) c.7254C>A (p.Ser2418=) c.7158C>A (p.Ser2386=) c.7128C>A (p.Ser2376=) c.7053C>A (p.Ser2351=) c.6951C>A (p.Ser2317=) c.6582C>A (p.Ser2194=) | dbSNP |
| 5 | g.112843025C= | CA1573470682 | APC | c.7485C= (p.Ser2495=) c.*7437C= (n.*7437C=) c.7377C= (p.Ser2459=) c.7431C= (p.Ser2477=) c.231-13624C= c.7461C= (p.Ser2487=) c.7356C= (p.Ser2452=) c.7347C= (p.Ser2449=) c.7308C= (p.Ser2436=) c.7254C= (p.Ser2418=) c.7158C= (p.Ser2386=) c.7128C= (p.Ser2376=) c.7053C= (p.Ser2351=) c.6951C= (p.Ser2317=) c.6582C= (p.Ser2194=) | |
| 5 | g.112843025C>G | CA446210648 | APC | c.7485C>G (p.Ser2495=) c.*7437C>G (n.*7437C>G) c.7377C>G (p.Ser2459=) c.7431C>G (p.Ser2477=) c.231-13624C>G c.7461C>G (p.Ser2487=) c.7356C>G (p.Ser2452=) c.7347C>G (p.Ser2449=) c.7308C>G (p.Ser2436=) c.7254C>G (p.Ser2418=) c.7158C>G (p.Ser2386=) c.7128C>G (p.Ser2376=) c.7053C>G (p.Ser2351=) c.6951C>G (p.Ser2317=) c.6582C>G (p.Ser2194=) | ClinVar dbSNP |
| 5 | g.112843025C>T | CA446210649 | APC | c.7485C>T (p.Ser2495=) c.*7437C>T (n.*7437C>T) c.7377C>T (p.Ser2459=) c.7431C>T (p.Ser2477=) c.231-13624C>T c.7461C>T (p.Ser2487=) c.7356C>T (p.Ser2452=) c.7347C>T (p.Ser2449=) c.7308C>T (p.Ser2436=) c.7254C>T (p.Ser2418=) c.7158C>T (p.Ser2386=) c.7128C>T (p.Ser2376=) c.7053C>T (p.Ser2351=) c.6951C>T (p.Ser2317=) c.6582C>T (p.Ser2194=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112843026C>A | CA16037503 | APC | c.7486C>A (p.Gln2496Lys) c.*7438C>A (n.*7438C>A) c.7378C>A (p.Gln2460Lys) c.7432C>A (p.Gln2478Lys) c.231-13623C>A c.7462C>A (p.Gln2488Lys) c.7357C>A (p.Gln2453Lys) c.7348C>A (p.Gln2450Lys) c.7309C>A (p.Gln2437Lys) c.7255C>A (p.Gln2419Lys) c.7159C>A (p.Gln2387Lys) c.7129C>A (p.Gln2377Lys) c.7054C>A (p.Gln2352Lys) c.6952C>A (p.Gln2318Lys) c.6583C>A (p.Gln2195Lys) | ClinVar dbSNP |
| 5 | g.112843026C= | CA1573470687 | APC | c.7486C= (p.Gln2496=) c.*7438C= (n.*7438C=) c.7378C= (p.Gln2460=) c.7432C= (p.Gln2478=) c.231-13623C= c.7462C= (p.Gln2488=) c.7357C= (p.Gln2453=) c.7348C= (p.Gln2450=) c.7309C= (p.Gln2437=) c.7255C= (p.Gln2419=) c.7159C= (p.Gln2387=) c.7129C= (p.Gln2377=) c.7054C= (p.Gln2352=) c.6952C= (p.Gln2318=) c.6583C= (p.Gln2195=) | |
| 5 | g.112843026C>G | CA16037504 | APC | c.7486C>G (p.Gln2496Glu) c.*7438C>G (n.*7438C>G) c.7378C>G (p.Gln2460Glu) c.7432C>G (p.Gln2478Glu) c.231-13623C>G c.7462C>G (p.Gln2488Glu) c.7357C>G (p.Gln2453Glu) c.7348C>G (p.Gln2450Glu) c.7309C>G (p.Gln2437Glu) c.7255C>G (p.Gln2419Glu) c.7159C>G (p.Gln2387Glu) c.7129C>G (p.Gln2377Glu) c.7054C>G (p.Gln2352Glu) c.6952C>G (p.Gln2318Glu) c.6583C>G (p.Gln2195Glu) | ClinVar dbSNP |
| 5 | g.112843026C>T | CA16037505 | APC | c.7486C>T (p.Gln2496Ter) c.*7438C>T (n.*7438C>T) c.7378C>T (p.Gln2460Ter) c.7432C>T (p.Gln2478Ter) c.231-13623C>T c.7462C>T (p.Gln2488Ter) c.7357C>T (p.Gln2453Ter) c.7348C>T (p.Gln2450Ter) c.7309C>T (p.Gln2437Ter) c.7255C>T (p.Gln2419Ter) c.7159C>T (p.Gln2387Ter) c.7129C>T (p.Gln2377Ter) c.7054C>T (p.Gln2352Ter) c.6952C>T (p.Gln2318Ter) c.6583C>T (p.Gln2195Ter) | dbSNP |
| 5 | g.112843027A= | CA1573470697 | APC | c.7487A= (p.Gln2496=) c.*7439A= (n.*7439A=) c.7379A= (p.Gln2460=) c.7433A= (p.Gln2478=) c.231-13622A= c.7463A= (p.Gln2488=) c.7358A= (p.Gln2453=) c.7349A= (p.Gln2450=) c.7310A= (p.Gln2437=) c.7256A= (p.Gln2419=) c.7160A= (p.Gln2387=) c.7130A= (p.Gln2377=) c.7055A= (p.Gln2352=) c.6953A= (p.Gln2318=) c.6584A= (p.Gln2195=) | |
| 5 | g.112843027A>C | CA048031 | APC | c.7487A>C (p.Gln2496Pro) c.*7439A>C (n.*7439A>C) c.7379A>C (p.Gln2460Pro) c.7433A>C (p.Gln2478Pro) c.231-13622A>C c.7463A>C (p.Gln2488Pro) c.7358A>C (p.Gln2453Pro) c.7349A>C (p.Gln2450Pro) c.7310A>C (p.Gln2437Pro) c.7256A>C (p.Gln2419Pro) c.7160A>C (p.Gln2387Pro) c.7130A>C (p.Gln2377Pro) c.7055A>C (p.Gln2352Pro) c.6953A>C (p.Gln2318Pro) c.6584A>C (p.Gln2195Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843027A>G | CA16037506 | APC | c.7487A>G (p.Gln2496Arg) c.*7439A>G (n.*7439A>G) c.7379A>G (p.Gln2460Arg) c.7433A>G (p.Gln2478Arg) c.231-13622A>G c.7463A>G (p.Gln2488Arg) c.7358A>G (p.Gln2453Arg) c.7349A>G (p.Gln2450Arg) c.7310A>G (p.Gln2437Arg) c.7256A>G (p.Gln2419Arg) c.7160A>G (p.Gln2387Arg) c.7130A>G (p.Gln2377Arg) c.7055A>G (p.Gln2352Arg) c.6953A>G (p.Gln2318Arg) c.6584A>G (p.Gln2195Arg) | dbSNP |
| 5 | g.112843027A>T | CA16037507 | APC | c.7487A>T (p.Gln2496Leu) c.*7439A>T (n.*7439A>T) c.7379A>T (p.Gln2460Leu) c.7433A>T (p.Gln2478Leu) c.231-13622A>T c.7463A>T (p.Gln2488Leu) c.7358A>T (p.Gln2453Leu) c.7349A>T (p.Gln2450Leu) c.7310A>T (p.Gln2437Leu) c.7256A>T (p.Gln2419Leu) c.7160A>T (p.Gln2387Leu) c.7130A>T (p.Gln2377Leu) c.7055A>T (p.Gln2352Leu) c.6953A>T (p.Gln2318Leu) c.6584A>T (p.Gln2195Leu) | dbSNP |
| 5 | g.112843028G>A | CA446210656 | APC | c.7488G>A (p.Gln2496=) c.*7440G>A (n.*7440G>A) c.7380G>A (p.Gln2460=) c.7434G>A (p.Gln2478=) c.231-13621G>A c.7464G>A (p.Gln2488=) c.7359G>A (p.Gln2453=) c.7350G>A (p.Gln2450=) c.7311G>A (p.Gln2437=) c.7257G>A (p.Gln2419=) c.7161G>A (p.Gln2387=) c.7131G>A (p.Gln2377=) c.7056G>A (p.Gln2352=) c.6954G>A (p.Gln2318=) c.6585G>A (p.Gln2195=) | ClinVar dbSNP |
| 5 | g.112843028G>C | CA16037508 | APC | c.7488G>C (p.Gln2496His) c.*7440G>C (n.*7440G>C) c.7380G>C (p.Gln2460His) c.7434G>C (p.Gln2478His) c.231-13621G>C c.7464G>C (p.Gln2488His) c.7359G>C (p.Gln2453His) c.7350G>C (p.Gln2450His) c.7311G>C (p.Gln2437His) c.7257G>C (p.Gln2419His) c.7161G>C (p.Gln2387His) c.7131G>C (p.Gln2377His) c.7056G>C (p.Gln2352His) c.6954G>C (p.Gln2318His) c.6585G>C (p.Gln2195His) | dbSNP |
| 5 | g.112843028G= | CA1573470704 | APC | c.7488G= (p.Gln2496=) c.*7440G= (n.*7440G=) c.7380G= (p.Gln2460=) c.7434G= (p.Gln2478=) c.231-13621G= c.7464G= (p.Gln2488=) c.7359G= (p.Gln2453=) c.7350G= (p.Gln2450=) c.7311G= (p.Gln2437=) c.7257G= (p.Gln2419=) c.7161G= (p.Gln2387=) c.7131G= (p.Gln2377=) c.7056G= (p.Gln2352=) c.6954G= (p.Gln2318=) c.6585G= (p.Gln2195=) | |
| 5 | g.112843028G>T | CA16037509 | APC | c.7488G>T (p.Gln2496His) c.*7440G>T (n.*7440G>T) c.7380G>T (p.Gln2460His) c.7434G>T (p.Gln2478His) c.231-13621G>T c.7464G>T (p.Gln2488His) c.7359G>T (p.Gln2453His) c.7350G>T (p.Gln2450His) c.7311G>T (p.Gln2437His) c.7257G>T (p.Gln2419His) c.7161G>T (p.Gln2387His) c.7131G>T (p.Gln2377His) c.7056G>T (p.Gln2352His) c.6954G>T (p.Gln2318His) c.6585G>T (p.Gln2195His) | ClinVar dbSNP |
| 5 | g.112843029G>A | CA16037510 | APC | c.7489G>A (p.Ala2497Thr) c.*7441G>A (n.*7441G>A) c.7381G>A (p.Ala2461Thr) c.7435G>A (p.Ala2479Thr) c.231-13620G>A c.7465G>A (p.Ala2489Thr) c.7360G>A (p.Ala2454Thr) c.7351G>A (p.Ala2451Thr) c.7312G>A (p.Ala2438Thr) c.7258G>A (p.Ala2420Thr) c.7162G>A (p.Ala2388Thr) c.7132G>A (p.Ala2378Thr) c.7057G>A (p.Ala2353Thr) c.6955G>A (p.Ala2319Thr) c.6586G>A (p.Ala2196Thr) | ClinVar dbSNP |
| 5 | g.112843029G>C | CA16037511 | APC | c.7489G>C (p.Ala2497Pro) c.*7441G>C (n.*7441G>C) c.7381G>C (p.Ala2461Pro) c.7435G>C (p.Ala2479Pro) c.231-13620G>C c.7465G>C (p.Ala2489Pro) c.7360G>C (p.Ala2454Pro) c.7351G>C (p.Ala2451Pro) c.7312G>C (p.Ala2438Pro) c.7258G>C (p.Ala2420Pro) c.7162G>C (p.Ala2388Pro) c.7132G>C (p.Ala2378Pro) c.7057G>C (p.Ala2353Pro) c.6955G>C (p.Ala2319Pro) c.6586G>C (p.Ala2196Pro) | dbSNP gnomAD v4 |
| 5 | g.112843029G= | CA1573470711 | APC | c.7489G= (p.Ala2497=) c.*7441G= (n.*7441G=) c.7381G= (p.Ala2461=) c.7435G= (p.Ala2479=) c.231-13620G= c.7465G= (p.Ala2489=) c.7360G= (p.Ala2454=) c.7351G= (p.Ala2451=) c.7312G= (p.Ala2438=) c.7258G= (p.Ala2420=) c.7162G= (p.Ala2388=) c.7132G= (p.Ala2378=) c.7057G= (p.Ala2353=) c.6955G= (p.Ala2319=) c.6586G= (p.Ala2196=) | |
| 5 | g.112843029G>T | CA16037512 | APC | c.7489G>T (p.Ala2497Ser) c.*7441G>T (n.*7441G>T) c.7381G>T (p.Ala2461Ser) c.7435G>T (p.Ala2479Ser) c.231-13620G>T c.7465G>T (p.Ala2489Ser) c.7360G>T (p.Ala2454Ser) c.7351G>T (p.Ala2451Ser) c.7312G>T (p.Ala2438Ser) c.7258G>T (p.Ala2420Ser) c.7162G>T (p.Ala2388Ser) c.7132G>T (p.Ala2378Ser) c.7057G>T (p.Ala2353Ser) c.6955G>T (p.Ala2319Ser) c.6586G>T (p.Ala2196Ser) | dbSNP |
| 5 | g.112843030C>A | CA16037513 | APC | c.7490C>A (p.Ala2497Glu) c.*7442C>A (n.*7442C>A) c.7382C>A (p.Ala2461Glu) c.7436C>A (p.Ala2479Glu) c.231-13619C>A c.7466C>A (p.Ala2489Glu) c.7361C>A (p.Ala2454Glu) c.7352C>A (p.Ala2451Glu) c.7313C>A (p.Ala2438Glu) c.7259C>A (p.Ala2420Glu) c.7163C>A (p.Ala2388Glu) c.7133C>A (p.Ala2378Glu) c.7058C>A (p.Ala2353Glu) c.6956C>A (p.Ala2319Glu) c.6587C>A (p.Ala2196Glu) | dbSNP |