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.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=) | |
| 5 | g.112843127C>G | CA446210881 | APC | c.7587C>G (p.Leu2529=) c.*7539C>G (n.*7539C>G) c.7479C>G (p.Leu2493=) c.7533C>G (p.Leu2511=) c.231-13522C>G c.7563C>G (p.Leu2521=) c.7458C>G (p.Leu2486=) c.7449C>G (p.Leu2483=) c.7410C>G (p.Leu2470=) c.7356C>G (p.Leu2452=) c.7260C>G (p.Leu2420=) c.7230C>G (p.Leu2410=) c.7155C>G (p.Leu2385=) c.7053C>G (p.Leu2351=) c.6684C>G (p.Leu2228=) | dbSNP |
| 5 | g.112843127C>T | CA16604674 | APC | c.7587C>T (p.Leu2529=) c.*7539C>T (n.*7539C>T) c.7479C>T (p.Leu2493=) c.7533C>T (p.Leu2511=) c.231-13522C>T c.7563C>T (p.Leu2521=) c.7458C>T (p.Leu2486=) c.7449C>T (p.Leu2483=) c.7410C>T (p.Leu2470=) c.7356C>T (p.Leu2452=) c.7260C>T (p.Leu2420=) c.7230C>T (p.Leu2410=) c.7155C>T (p.Leu2385=) c.7053C>T (p.Leu2351=) c.6684C>T (p.Leu2228=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112843128A>C | CA16037706 | APC | c.7588A>C (p.Ser2530Arg) c.*7540A>C (n.*7540A>C) c.7480A>C (p.Ser2494Arg) c.7534A>C (p.Ser2512Arg) c.231-13521A>C c.7564A>C (p.Ser2522Arg) c.7459A>C (p.Ser2487Arg) c.7450A>C (p.Ser2484Arg) c.7411A>C (p.Ser2471Arg) c.7357A>C (p.Ser2453Arg) c.7261A>C (p.Ser2421Arg) c.7231A>C (p.Ser2411Arg) c.7156A>C (p.Ser2386Arg) c.7054A>C (p.Ser2352Arg) c.6685A>C (p.Ser2229Arg) | ClinVar |
| 5 | g.112843128A>G | CA16037707 | APC | c.7588A>G (p.Ser2530Gly) c.*7540A>G (n.*7540A>G) c.7480A>G (p.Ser2494Gly) c.7534A>G (p.Ser2512Gly) c.231-13521A>G c.7564A>G (p.Ser2522Gly) c.7459A>G (p.Ser2487Gly) c.7450A>G (p.Ser2484Gly) c.7411A>G (p.Ser2471Gly) c.7357A>G (p.Ser2453Gly) c.7261A>G (p.Ser2421Gly) c.7231A>G (p.Ser2411Gly) c.7156A>G (p.Ser2386Gly) c.7054A>G (p.Ser2352Gly) c.6685A>G (p.Ser2229Gly) | dbSNP |
| 5 | g.112843128A>T | CA16037708 | APC | c.7588A>T (p.Ser2530Cys) c.*7540A>T (n.*7540A>T) c.7480A>T (p.Ser2494Cys) c.7534A>T (p.Ser2512Cys) c.231-13521A>T c.7564A>T (p.Ser2522Cys) c.7459A>T (p.Ser2487Cys) c.7450A>T (p.Ser2484Cys) c.7411A>T (p.Ser2471Cys) c.7357A>T (p.Ser2453Cys) c.7261A>T (p.Ser2421Cys) c.7231A>T (p.Ser2411Cys) c.7156A>T (p.Ser2386Cys) c.7054A>T (p.Ser2352Cys) c.6685A>T (p.Ser2229Cys) | ClinVar dbSNP |
| 5 | g.112843129G>A | CA16037709 | APC | c.7589G>A (p.Ser2530Asn) c.*7541G>A (n.*7541G>A) c.7481G>A (p.Ser2494Asn) c.7535G>A (p.Ser2512Asn) c.231-13520G>A c.7565G>A (p.Ser2522Asn) c.7460G>A (p.Ser2487Asn) c.7451G>A (p.Ser2484Asn) c.7412G>A (p.Ser2471Asn) c.7358G>A (p.Ser2453Asn) c.7262G>A (p.Ser2421Asn) c.7232G>A (p.Ser2411Asn) c.7157G>A (p.Ser2386Asn) c.7055G>A (p.Ser2352Asn) c.6686G>A (p.Ser2229Asn) | dbSNP gnomAD v4 |
| 5 | g.112843129G>C | CA16037710 | APC | c.7589G>C (p.Ser2530Thr) c.*7541G>C (n.*7541G>C) c.7481G>C (p.Ser2494Thr) c.7535G>C (p.Ser2512Thr) c.231-13520G>C c.7565G>C (p.Ser2522Thr) c.7460G>C (p.Ser2487Thr) c.7451G>C (p.Ser2484Thr) c.7412G>C (p.Ser2471Thr) c.7358G>C (p.Ser2453Thr) c.7262G>C (p.Ser2421Thr) c.7232G>C (p.Ser2411Thr) c.7157G>C (p.Ser2386Thr) c.7055G>C (p.Ser2352Thr) c.6686G>C (p.Ser2229Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843129G= | CA1573471616 | APC | c.7589G= (p.Ser2530=) c.*7541G= (n.*7541G=) c.7481G= (p.Ser2494=) c.7535G= (p.Ser2512=) c.231-13520G= c.7565G= (p.Ser2522=) c.7460G= (p.Ser2487=) c.7451G= (p.Ser2484=) c.7412G= (p.Ser2471=) c.7358G= (p.Ser2453=) c.7262G= (p.Ser2421=) c.7232G= (p.Ser2411=) c.7157G= (p.Ser2386=) c.7055G= (p.Ser2352=) c.6686G= (p.Ser2229=) | |
| 5 | g.112843129G>T | CA16037711 | APC | c.7589G>T (p.Ser2530Ile) c.*7541G>T (n.*7541G>T) c.7481G>T (p.Ser2494Ile) c.7535G>T (p.Ser2512Ile) c.231-13520G>T c.7565G>T (p.Ser2522Ile) c.7460G>T (p.Ser2487Ile) c.7451G>T (p.Ser2484Ile) c.7412G>T (p.Ser2471Ile) c.7358G>T (p.Ser2453Ile) c.7262G>T (p.Ser2421Ile) c.7232G>T (p.Ser2411Ile) c.7157G>T (p.Ser2386Ile) c.7055G>T (p.Ser2352Ile) c.6686G>T (p.Ser2229Ile) | ClinVar |
| 5 | g.112843130T>A | CA16037712 | APC | c.7590T>A (p.Ser2530Arg) c.*7542T>A (n.*7542T>A) c.7482T>A (p.Ser2494Arg) c.7536T>A (p.Ser2512Arg) c.231-13519T>A c.7566T>A (p.Ser2522Arg) c.7461T>A (p.Ser2487Arg) c.7452T>A (p.Ser2484Arg) c.7413T>A (p.Ser2471Arg) c.7359T>A (p.Ser2453Arg) c.7263T>A (p.Ser2421Arg) c.7233T>A (p.Ser2411Arg) c.7158T>A (p.Ser2386Arg) c.7056T>A (p.Ser2352Arg) c.6687T>A (p.Ser2229Arg) | |
| 5 | g.112843130T>C | CA013781 | APC | c.7590T>C (p.Ser2530=) c.*7542T>C (n.*7542T>C) c.7482T>C (p.Ser2494=) c.7536T>C (p.Ser2512=) c.231-13519T>C c.7566T>C (p.Ser2522=) c.7461T>C (p.Ser2487=) c.7452T>C (p.Ser2484=) c.7413T>C (p.Ser2471=) c.7359T>C (p.Ser2453=) c.7263T>C (p.Ser2421=) c.7233T>C (p.Ser2411=) c.7158T>C (p.Ser2386=) c.7056T>C (p.Ser2352=) c.6687T>C (p.Ser2229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843130T>G | CA16037713 | APC | c.7590T>G (p.Ser2530Arg) c.*7542T>G (n.*7542T>G) c.7482T>G (p.Ser2494Arg) c.7536T>G (p.Ser2512Arg) c.231-13519T>G c.7566T>G (p.Ser2522Arg) c.7461T>G (p.Ser2487Arg) c.7452T>G (p.Ser2484Arg) c.7413T>G (p.Ser2471Arg) c.7359T>G (p.Ser2453Arg) c.7263T>G (p.Ser2421Arg) c.7233T>G (p.Ser2411Arg) c.7158T>G (p.Ser2386Arg) c.7056T>G (p.Ser2352Arg) c.6687T>G (p.Ser2229Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843130T= | CA1573471626 | APC | c.7590T= (p.Ser2530=) c.*7542T= (n.*7542T=) c.7482T= (p.Ser2494=) c.7536T= (p.Ser2512=) c.231-13519T= c.7566T= (p.Ser2522=) c.7461T= (p.Ser2487=) c.7452T= (p.Ser2484=) c.7413T= (p.Ser2471=) c.7359T= (p.Ser2453=) c.7263T= (p.Ser2421=) c.7233T= (p.Ser2411=) c.7158T= (p.Ser2386=) c.7056T= (p.Ser2352=) c.6687T= (p.Ser2229=) | |
| 5 | g.112843131C>A | CA16037714 | APC | c.7591C>A (p.Pro2531Thr) c.*7543C>A (n.*7543C>A) c.7483C>A (p.Pro2495Thr) c.7537C>A (p.Pro2513Thr) c.231-13518C>A c.7567C>A (p.Pro2523Thr) c.7462C>A (p.Pro2488Thr) c.7453C>A (p.Pro2485Thr) c.7414C>A (p.Pro2472Thr) c.7360C>A (p.Pro2454Thr) c.7264C>A (p.Pro2422Thr) c.7234C>A (p.Pro2412Thr) c.7159C>A (p.Pro2387Thr) c.7057C>A (p.Pro2353Thr) c.6688C>A (p.Pro2230Thr) | dbSNP |
| 5 | g.112843131C>G | CA16037715 | APC | c.7591C>G (p.Pro2531Ala) c.*7543C>G (n.*7543C>G) c.7483C>G (p.Pro2495Ala) c.7537C>G (p.Pro2513Ala) c.231-13518C>G c.7567C>G (p.Pro2523Ala) c.7462C>G (p.Pro2488Ala) c.7453C>G (p.Pro2485Ala) c.7414C>G (p.Pro2472Ala) c.7360C>G (p.Pro2454Ala) c.7264C>G (p.Pro2422Ala) c.7234C>G (p.Pro2412Ala) c.7159C>G (p.Pro2387Ala) c.7057C>G (p.Pro2353Ala) c.6688C>G (p.Pro2230Ala) | ClinVar dbSNP |
| 5 | g.112843131C>T | CA16037716 | APC | c.7591C>T (p.Pro2531Ser) c.*7543C>T (n.*7543C>T) c.7483C>T (p.Pro2495Ser) c.7537C>T (p.Pro2513Ser) c.231-13518C>T c.7567C>T (p.Pro2523Ser) c.7462C>T (p.Pro2488Ser) c.7453C>T (p.Pro2485Ser) c.7414C>T (p.Pro2472Ser) c.7360C>T (p.Pro2454Ser) c.7264C>T (p.Pro2422Ser) c.7234C>T (p.Pro2412Ser) c.7159C>T (p.Pro2387Ser) c.7057C>T (p.Pro2353Ser) c.6688C>T (p.Pro2230Ser) | dbSNP gnomAD v4 |
| 5 | g.112843132C>A | CA16037717 | APC | c.7592C>A (p.Pro2531His) c.*7544C>A (n.*7544C>A) c.7484C>A (p.Pro2495His) c.7538C>A (p.Pro2513His) c.231-13517C>A c.7568C>A (p.Pro2523His) c.7463C>A (p.Pro2488His) c.7454C>A (p.Pro2485His) c.7415C>A (p.Pro2472His) c.7361C>A (p.Pro2454His) c.7265C>A (p.Pro2422His) c.7235C>A (p.Pro2412His) c.7160C>A (p.Pro2387His) c.7058C>A (p.Pro2353His) c.6689C>A (p.Pro2230His) | dbSNP |