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.112840128_112843000del | CA2582341313 | APC | c.4588_7460del (p.Asp1530Ter) c.*4540_*7412del (n.*4540_*7412del) c.4480_7352del (p.Asp1494Ter) c.4534_7406del (p.Asp1512Ter) c.230+11156_231-13649del c.4564_7436del (p.Asp1522Ter) c.4459_7331del (p.Asp1487Ter) c.4450_7322del (p.Asp1484Ter) c.4411_7283del (p.Asp1471Ter) c.4357_7229del (p.Asp1453Ter) c.4261_7133del (p.Asp1421Ter) c.4231_7103del (p.Asp1411Ter) c.4156_7028del (p.Asp1386Ter) c.4054_6926del (p.Asp1352Ter) c.3685_6557del (p.Asp1229Ter) | ClinVar |
| 5 | g.112842918A= | CA1573469392 | APC | c.7378A= (p.Thr2460=) c.*7330A= (n.*7330A=) c.7270A= (p.Thr2424=) c.7324A= (p.Thr2442=) c.231-13731A= c.7354A= (p.Thr2452=) c.7249A= (p.Thr2417=) c.7240A= (p.Thr2414=) c.7201A= (p.Thr2401=) c.7147A= (p.Thr2383=) c.7051A= (p.Thr2351=) c.7021A= (p.Thr2341=) c.6946A= (p.Thr2316=) c.6844A= (p.Thr2282=) c.6475A= (p.Thr2159=) | |
| 5 | g.112842918A>C | CA16037279 | APC | c.7378A>C (p.Thr2460Pro) c.*7330A>C (n.*7330A>C) c.7270A>C (p.Thr2424Pro) c.7324A>C (p.Thr2442Pro) c.231-13731A>C c.7354A>C (p.Thr2452Pro) c.7249A>C (p.Thr2417Pro) c.7240A>C (p.Thr2414Pro) c.7201A>C (p.Thr2401Pro) c.7147A>C (p.Thr2383Pro) c.7051A>C (p.Thr2351Pro) c.7021A>C (p.Thr2341Pro) c.6946A>C (p.Thr2316Pro) c.6844A>C (p.Thr2282Pro) c.6475A>C (p.Thr2159Pro) | dbSNP |
| 5 | g.112842918A>G | CA336578 | APC | c.7378A>G (p.Thr2460Ala) c.*7330A>G (n.*7330A>G) c.7270A>G (p.Thr2424Ala) c.7324A>G (p.Thr2442Ala) c.231-13731A>G c.7354A>G (p.Thr2452Ala) c.7249A>G (p.Thr2417Ala) c.7240A>G (p.Thr2414Ala) c.7201A>G (p.Thr2401Ala) c.7147A>G (p.Thr2383Ala) c.7051A>G (p.Thr2351Ala) c.7021A>G (p.Thr2341Ala) c.6946A>G (p.Thr2316Ala) c.6844A>G (p.Thr2282Ala) c.6475A>G (p.Thr2159Ala) | ClinVar dbSNP |
| 5 | g.112842918A>T | CA16037280 | APC | c.7378A>T (p.Thr2460Ser) c.*7330A>T (n.*7330A>T) c.7270A>T (p.Thr2424Ser) c.7324A>T (p.Thr2442Ser) c.231-13731A>T c.7354A>T (p.Thr2452Ser) c.7249A>T (p.Thr2417Ser) c.7240A>T (p.Thr2414Ser) c.7201A>T (p.Thr2401Ser) c.7147A>T (p.Thr2383Ser) c.7051A>T (p.Thr2351Ser) c.7021A>T (p.Thr2341Ser) c.6946A>T (p.Thr2316Ser) c.6844A>T (p.Thr2282Ser) c.6475A>T (p.Thr2159Ser) | dbSNP |
| 5 | g.112842919C>A | CA16037281 | APC | c.7379C>A (p.Thr2460Asn) c.*7331C>A (n.*7331C>A) c.7271C>A (p.Thr2424Asn) c.7325C>A (p.Thr2442Asn) c.231-13730C>A c.7355C>A (p.Thr2452Asn) c.7250C>A (p.Thr2417Asn) c.7241C>A (p.Thr2414Asn) c.7202C>A (p.Thr2401Asn) c.7148C>A (p.Thr2383Asn) c.7052C>A (p.Thr2351Asn) c.7022C>A (p.Thr2341Asn) c.6947C>A (p.Thr2316Asn) c.6845C>A (p.Thr2282Asn) c.6476C>A (p.Thr2159Asn) | dbSNP |
| 5 | g.112842919C>G | CA16037282 | APC | c.7379C>G (p.Thr2460Ser) c.*7331C>G (n.*7331C>G) c.7271C>G (p.Thr2424Ser) c.7325C>G (p.Thr2442Ser) c.231-13730C>G c.7355C>G (p.Thr2452Ser) c.7250C>G (p.Thr2417Ser) c.7241C>G (p.Thr2414Ser) c.7202C>G (p.Thr2401Ser) c.7148C>G (p.Thr2383Ser) c.7052C>G (p.Thr2351Ser) c.7022C>G (p.Thr2341Ser) c.6947C>G (p.Thr2316Ser) c.6845C>G (p.Thr2282Ser) c.6476C>G (p.Thr2159Ser) | |
| 5 | g.112842919C>T | CA16037283 | APC | c.7379C>T (p.Thr2460Ile) c.*7331C>T (n.*7331C>T) c.7271C>T (p.Thr2424Ile) c.7325C>T (p.Thr2442Ile) c.231-13730C>T c.7355C>T (p.Thr2452Ile) c.7250C>T (p.Thr2417Ile) c.7241C>T (p.Thr2414Ile) c.7202C>T (p.Thr2401Ile) c.7148C>T (p.Thr2383Ile) c.7052C>T (p.Thr2351Ile) c.7022C>T (p.Thr2341Ile) c.6947C>T (p.Thr2316Ile) c.6845C>T (p.Thr2282Ile) c.6476C>T (p.Thr2159Ile) | dbSNP |
| 5 | g.112842920T>A | CA446210264 | APC | c.7380T>A (p.Thr2460=) c.*7332T>A (n.*7332T>A) c.7272T>A (p.Thr2424=) c.7326T>A (p.Thr2442=) c.231-13729T>A c.7356T>A (p.Thr2452=) c.7251T>A (p.Thr2417=) c.7242T>A (p.Thr2414=) c.7203T>A (p.Thr2401=) c.7149T>A (p.Thr2383=) c.7053T>A (p.Thr2351=) c.7023T>A (p.Thr2341=) c.6948T>A (p.Thr2316=) c.6846T>A (p.Thr2282=) c.6477T>A (p.Thr2159=) | ClinVar dbSNP |
| 5 | g.112842920T>C | CA446210265 | APC | c.7380T>C (p.Thr2460=) c.*7332T>C (n.*7332T>C) c.7272T>C (p.Thr2424=) c.7326T>C (p.Thr2442=) c.231-13729T>C c.7356T>C (p.Thr2452=) c.7251T>C (p.Thr2417=) c.7242T>C (p.Thr2414=) c.7203T>C (p.Thr2401=) c.7149T>C (p.Thr2383=) c.7053T>C (p.Thr2351=) c.7023T>C (p.Thr2341=) c.6948T>C (p.Thr2316=) c.6846T>C (p.Thr2282=) c.6477T>C (p.Thr2159=) | dbSNP |
| 5 | g.112842920T>G | CA446210266 | APC | c.7380T>G (p.Thr2460=) c.*7332T>G (n.*7332T>G) c.7272T>G (p.Thr2424=) c.7326T>G (p.Thr2442=) c.231-13729T>G c.7356T>G (p.Thr2452=) c.7251T>G (p.Thr2417=) c.7242T>G (p.Thr2414=) c.7203T>G (p.Thr2401=) c.7149T>G (p.Thr2383=) c.7053T>G (p.Thr2351=) c.7023T>G (p.Thr2341=) c.6948T>G (p.Thr2316=) c.6846T>G (p.Thr2282=) c.6477T>G (p.Thr2159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112842920T= | CA1573469409 | APC | c.7380T= (p.Thr2460=) c.*7332T= (n.*7332T=) c.7272T= (p.Thr2424=) c.7326T= (p.Thr2442=) c.231-13729T= c.7356T= (p.Thr2452=) c.7251T= (p.Thr2417=) c.7242T= (p.Thr2414=) c.7203T= (p.Thr2401=) c.7149T= (p.Thr2383=) c.7053T= (p.Thr2351=) c.7023T= (p.Thr2341=) c.6948T= (p.Thr2316=) c.6846T= (p.Thr2282=) c.6477T= (p.Thr2159=) | |
| 5 | g.112842921T>A | CA16037284 | APC | c.7381T>A (p.Phe2461Ile) c.*7333T>A (n.*7333T>A) c.7273T>A (p.Phe2425Ile) c.7327T>A (p.Phe2443Ile) c.231-13728T>A c.7357T>A (p.Phe2453Ile) c.7252T>A (p.Phe2418Ile) c.7243T>A (p.Phe2415Ile) c.7204T>A (p.Phe2402Ile) c.7150T>A (p.Phe2384Ile) c.7054T>A (p.Phe2352Ile) c.7024T>A (p.Phe2342Ile) c.6949T>A (p.Phe2317Ile) c.6847T>A (p.Phe2283Ile) c.6478T>A (p.Phe2160Ile) | dbSNP |
| 5 | g.112842921T>C | CA16037285 | APC | c.7381T>C (p.Phe2461Leu) c.*7333T>C (n.*7333T>C) c.7273T>C (p.Phe2425Leu) c.7327T>C (p.Phe2443Leu) c.231-13728T>C c.7357T>C (p.Phe2453Leu) c.7252T>C (p.Phe2418Leu) c.7243T>C (p.Phe2415Leu) c.7204T>C (p.Phe2402Leu) c.7150T>C (p.Phe2384Leu) c.7054T>C (p.Phe2352Leu) c.7024T>C (p.Phe2342Leu) c.6949T>C (p.Phe2317Leu) c.6847T>C (p.Phe2283Leu) c.6478T>C (p.Phe2160Leu) | ClinVar dbSNP |
| 5 | g.112842921T>G | CA16037286 | APC | c.7381T>G (p.Phe2461Val) c.*7333T>G (n.*7333T>G) c.7273T>G (p.Phe2425Val) c.7327T>G (p.Phe2443Val) c.231-13728T>G c.7357T>G (p.Phe2453Val) c.7252T>G (p.Phe2418Val) c.7243T>G (p.Phe2415Val) c.7204T>G (p.Phe2402Val) c.7150T>G (p.Phe2384Val) c.7054T>G (p.Phe2352Val) c.7024T>G (p.Phe2342Val) c.6949T>G (p.Phe2317Val) c.6847T>G (p.Phe2283Val) c.6478T>G (p.Phe2160Val) | |
| 5 | g.112842921T= | CA1573469421 | APC | c.7381T= (p.Phe2461=) c.*7333T= (n.*7333T=) c.7273T= (p.Phe2425=) c.7327T= (p.Phe2443=) c.231-13728T= c.7357T= (p.Phe2453=) c.7252T= (p.Phe2418=) c.7243T= (p.Phe2415=) c.7204T= (p.Phe2402=) c.7150T= (p.Phe2384=) c.7054T= (p.Phe2352=) c.7024T= (p.Phe2342=) c.6949T= (p.Phe2317=) c.6847T= (p.Phe2283=) c.6478T= (p.Phe2160=) | |
| 5 | g.112842922T>A | CA16037287 | APC | c.7382T>A (p.Phe2461Tyr) c.*7334T>A (n.*7334T>A) c.7274T>A (p.Phe2425Tyr) c.7328T>A (p.Phe2443Tyr) c.231-13727T>A c.7358T>A (p.Phe2453Tyr) c.7253T>A (p.Phe2418Tyr) c.7244T>A (p.Phe2415Tyr) c.7205T>A (p.Phe2402Tyr) c.7151T>A (p.Phe2384Tyr) c.7055T>A (p.Phe2352Tyr) c.7025T>A (p.Phe2342Tyr) c.6950T>A (p.Phe2317Tyr) c.6848T>A (p.Phe2283Tyr) c.6479T>A (p.Phe2160Tyr) | dbSNP |
| 5 | g.112842922T>C | CA16037288 | APC | c.7382T>C (p.Phe2461Ser) c.*7334T>C (n.*7334T>C) c.7274T>C (p.Phe2425Ser) c.7328T>C (p.Phe2443Ser) c.231-13727T>C c.7358T>C (p.Phe2453Ser) c.7253T>C (p.Phe2418Ser) c.7244T>C (p.Phe2415Ser) c.7205T>C (p.Phe2402Ser) c.7151T>C (p.Phe2384Ser) c.7055T>C (p.Phe2352Ser) c.7025T>C (p.Phe2342Ser) c.6950T>C (p.Phe2317Ser) c.6848T>C (p.Phe2283Ser) c.6479T>C (p.Phe2160Ser) | dbSNP gnomAD v4 |
| 5 | g.112842922T>G | CA16037289 | APC | c.7382T>G (p.Phe2461Cys) c.*7334T>G (n.*7334T>G) c.7274T>G (p.Phe2425Cys) c.7328T>G (p.Phe2443Cys) c.231-13727T>G c.7358T>G (p.Phe2453Cys) c.7253T>G (p.Phe2418Cys) c.7244T>G (p.Phe2415Cys) c.7205T>G (p.Phe2402Cys) c.7151T>G (p.Phe2384Cys) c.7055T>G (p.Phe2352Cys) c.7025T>G (p.Phe2342Cys) c.6950T>G (p.Phe2317Cys) c.6848T>G (p.Phe2283Cys) c.6479T>G (p.Phe2160Cys) | |
| 5 | g.112842923C>A | CA16037290 | APC | c.7383C>A (p.Phe2461Leu) c.*7335C>A (n.*7335C>A) c.7275C>A (p.Phe2425Leu) c.7329C>A (p.Phe2443Leu) c.231-13726C>A c.7359C>A (p.Phe2453Leu) c.7254C>A (p.Phe2418Leu) c.7245C>A (p.Phe2415Leu) c.7206C>A (p.Phe2402Leu) c.7152C>A (p.Phe2384Leu) c.7056C>A (p.Phe2352Leu) c.7026C>A (p.Phe2342Leu) c.6951C>A (p.Phe2317Leu) c.6849C>A (p.Phe2283Leu) c.6480C>A (p.Phe2160Leu) | dbSNP |
| 5 | g.112842923C= | CA1573469445 | APC | c.7383C= (p.Phe2461=) c.*7335C= (n.*7335C=) c.7275C= (p.Phe2425=) c.7329C= (p.Phe2443=) c.231-13726C= c.7359C= (p.Phe2453=) c.7254C= (p.Phe2418=) c.7245C= (p.Phe2415=) c.7206C= (p.Phe2402=) c.7152C= (p.Phe2384=) c.7056C= (p.Phe2352=) c.7026C= (p.Phe2342=) c.6951C= (p.Phe2317=) c.6849C= (p.Phe2283=) c.6480C= (p.Phe2160=) | |
| 5 | g.112842923C>G | CA16037291 | APC | c.7383C>G (p.Phe2461Leu) c.*7335C>G (n.*7335C>G) c.7275C>G (p.Phe2425Leu) c.7329C>G (p.Phe2443Leu) c.231-13726C>G c.7359C>G (p.Phe2453Leu) c.7254C>G (p.Phe2418Leu) c.7245C>G (p.Phe2415Leu) c.7206C>G (p.Phe2402Leu) c.7152C>G (p.Phe2384Leu) c.7056C>G (p.Phe2352Leu) c.7026C>G (p.Phe2342Leu) c.6951C>G (p.Phe2317Leu) c.6849C>G (p.Phe2283Leu) c.6480C>G (p.Phe2160Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112842923C>T | CA446210267 | APC | c.7383C>T (p.Phe2461=) c.*7335C>T (n.*7335C>T) c.7275C>T (p.Phe2425=) c.7329C>T (p.Phe2443=) c.231-13726C>T c.7359C>T (p.Phe2453=) c.7254C>T (p.Phe2418=) c.7245C>T (p.Phe2415=) c.7206C>T (p.Phe2402=) c.7152C>T (p.Phe2384=) c.7056C>T (p.Phe2352=) c.7026C>T (p.Phe2342=) c.6951C>T (p.Phe2317=) c.6849C>T (p.Phe2283=) c.6480C>T (p.Phe2160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112842924A= | CA1573469470 | APC | c.7384A= (p.Ile2462=) c.*7336A= (n.*7336A=) c.7276A= (p.Ile2426=) c.7330A= (p.Ile2444=) c.231-13725A= c.7360A= (p.Ile2454=) c.7255A= (p.Ile2419=) c.7246A= (p.Ile2416=) c.7207A= (p.Ile2403=) c.7153A= (p.Ile2385=) c.7057A= (p.Ile2353=) c.7027A= (p.Ile2343=) c.6952A= (p.Ile2318=) c.6850A= (p.Ile2284=) c.6481A= (p.Ile2161=) | |
| 5 | g.112842924A>C | CA16037292 | APC | c.7384A>C (p.Ile2462Leu) c.*7336A>C (n.*7336A>C) c.7276A>C (p.Ile2426Leu) c.7330A>C (p.Ile2444Leu) c.231-13725A>C c.7360A>C (p.Ile2454Leu) c.7255A>C (p.Ile2419Leu) c.7246A>C (p.Ile2416Leu) c.7207A>C (p.Ile2403Leu) c.7153A>C (p.Ile2385Leu) c.7057A>C (p.Ile2353Leu) c.7027A>C (p.Ile2343Leu) c.6952A>C (p.Ile2318Leu) c.6850A>C (p.Ile2284Leu) c.6481A>C (p.Ile2161Leu) | ClinVar dbSNP |
| 5 | g.112842924A>G | CA16037293 | APC | c.7384A>G (p.Ile2462Val) c.*7336A>G (n.*7336A>G) c.7276A>G (p.Ile2426Val) c.7330A>G (p.Ile2444Val) c.231-13725A>G c.7360A>G (p.Ile2454Val) c.7255A>G (p.Ile2419Val) c.7246A>G (p.Ile2416Val) c.7207A>G (p.Ile2403Val) c.7153A>G (p.Ile2385Val) c.7057A>G (p.Ile2353Val) c.7027A>G (p.Ile2343Val) c.6952A>G (p.Ile2318Val) c.6850A>G (p.Ile2284Val) c.6481A>G (p.Ile2161Val) | ClinVar dbSNP |
| 5 | g.112842924A>T | CA16037294 | APC | c.7384A>T (p.Ile2462Phe) c.*7336A>T (n.*7336A>T) c.7276A>T (p.Ile2426Phe) c.7330A>T (p.Ile2444Phe) c.231-13725A>T c.7360A>T (p.Ile2454Phe) c.7255A>T (p.Ile2419Phe) c.7246A>T (p.Ile2416Phe) c.7207A>T (p.Ile2403Phe) c.7153A>T (p.Ile2385Phe) c.7057A>T (p.Ile2353Phe) c.7027A>T (p.Ile2343Phe) c.6952A>T (p.Ile2318Phe) c.6850A>T (p.Ile2284Phe) c.6481A>T (p.Ile2161Phe) | dbSNP |
| 5 | g.112842925T>A | CA16037295 | APC | c.7385T>A (p.Ile2462Asn) c.*7337T>A (n.*7337T>A) c.7277T>A (p.Ile2426Asn) c.7331T>A (p.Ile2444Asn) c.231-13724T>A c.7361T>A (p.Ile2454Asn) c.7256T>A (p.Ile2419Asn) c.7247T>A (p.Ile2416Asn) c.7208T>A (p.Ile2403Asn) c.7154T>A (p.Ile2385Asn) c.7058T>A (p.Ile2353Asn) c.7028T>A (p.Ile2343Asn) c.6953T>A (p.Ile2318Asn) c.6851T>A (p.Ile2284Asn) c.6482T>A (p.Ile2161Asn) | dbSNP |
| 5 | g.112842925T>C | CA16037296 | APC | c.7385T>C (p.Ile2462Thr) c.*7337T>C (n.*7337T>C) c.7277T>C (p.Ile2426Thr) c.7331T>C (p.Ile2444Thr) c.231-13724T>C c.7361T>C (p.Ile2454Thr) c.7256T>C (p.Ile2419Thr) c.7247T>C (p.Ile2416Thr) c.7208T>C (p.Ile2403Thr) c.7154T>C (p.Ile2385Thr) c.7058T>C (p.Ile2353Thr) c.7028T>C (p.Ile2343Thr) c.6953T>C (p.Ile2318Thr) c.6851T>C (p.Ile2284Thr) c.6482T>C (p.Ile2161Thr) | |
| 5 | g.112842925T>G | CA16037297 | APC | c.7385T>G (p.Ile2462Ser) c.*7337T>G (n.*7337T>G) c.7277T>G (p.Ile2426Ser) c.7331T>G (p.Ile2444Ser) c.231-13724T>G c.7361T>G (p.Ile2454Ser) c.7256T>G (p.Ile2419Ser) c.7247T>G (p.Ile2416Ser) c.7208T>G (p.Ile2403Ser) c.7154T>G (p.Ile2385Ser) c.7058T>G (p.Ile2353Ser) c.7028T>G (p.Ile2343Ser) c.6953T>G (p.Ile2318Ser) c.6851T>G (p.Ile2284Ser) c.6482T>G (p.Ile2161Ser) | |
| 5 | g.112842926C>A | CA446210268 | APC | c.7386C>A (p.Ile2462=) c.*7338C>A (n.*7338C>A) c.7278C>A (p.Ile2426=) c.7332C>A (p.Ile2444=) c.231-13723C>A c.7362C>A (p.Ile2454=) c.7257C>A (p.Ile2419=) c.7248C>A (p.Ile2416=) c.7209C>A (p.Ile2403=) c.7155C>A (p.Ile2385=) c.7059C>A (p.Ile2353=) c.7029C>A (p.Ile2343=) c.6954C>A (p.Ile2318=) c.6852C>A (p.Ile2284=) c.6483C>A (p.Ile2161=) | dbSNP |
| 5 | g.112842926C= | CA1573469493 | APC | c.7386C= (p.Ile2462=) c.*7338C= (n.*7338C=) c.7278C= (p.Ile2426=) c.7332C= (p.Ile2444=) c.231-13723C= c.7362C= (p.Ile2454=) c.7257C= (p.Ile2419=) c.7248C= (p.Ile2416=) c.7209C= (p.Ile2403=) c.7155C= (p.Ile2385=) c.7059C= (p.Ile2353=) c.7029C= (p.Ile2343=) c.6954C= (p.Ile2318=) c.6852C= (p.Ile2284=) c.6483C= (p.Ile2161=) | |
| 5 | g.112842926C>G | CA16037298 | APC | c.7386C>G (p.Ile2462Met) c.*7338C>G (n.*7338C>G) c.7278C>G (p.Ile2426Met) c.7332C>G (p.Ile2444Met) c.231-13723C>G c.7362C>G (p.Ile2454Met) c.7257C>G (p.Ile2419Met) c.7248C>G (p.Ile2416Met) c.7209C>G (p.Ile2403Met) c.7155C>G (p.Ile2385Met) c.7059C>G (p.Ile2353Met) c.7029C>G (p.Ile2343Met) c.6954C>G (p.Ile2318Met) c.6852C>G (p.Ile2284Met) c.6483C>G (p.Ile2161Met) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112842926C>T | CA446210269 | APC | c.7386C>T (p.Ile2462=) c.*7338C>T (n.*7338C>T) c.7278C>T (p.Ile2426=) c.7332C>T (p.Ile2444=) c.231-13723C>T c.7362C>T (p.Ile2454=) c.7257C>T (p.Ile2419=) c.7248C>T (p.Ile2416=) c.7209C>T (p.Ile2403=) c.7155C>T (p.Ile2385=) c.7059C>T (p.Ile2353=) c.7029C>T (p.Ile2343=) c.6954C>T (p.Ile2318=) c.6852C>T (p.Ile2284=) c.6483C>T (p.Ile2161=) | dbSNP |
| 5 | g.112842927A>C | CA16037299 | APC | c.7387A>C (p.Lys2463Gln) c.*7339A>C (n.*7339A>C) c.7279A>C (p.Lys2427Gln) c.7333A>C (p.Lys2445Gln) c.231-13722A>C c.7363A>C (p.Lys2455Gln) c.7258A>C (p.Lys2420Gln) c.7249A>C (p.Lys2417Gln) c.7210A>C (p.Lys2404Gln) c.7156A>C (p.Lys2386Gln) c.7060A>C (p.Lys2354Gln) c.7030A>C (p.Lys2344Gln) c.6955A>C (p.Lys2319Gln) c.6853A>C (p.Lys2285Gln) c.6484A>C (p.Lys2162Gln) | |
| 5 | g.112842927A>G | CA16037300 | APC | c.7387A>G (p.Lys2463Glu) c.*7339A>G (n.*7339A>G) c.7279A>G (p.Lys2427Glu) c.7333A>G (p.Lys2445Glu) c.231-13722A>G c.7363A>G (p.Lys2455Glu) c.7258A>G (p.Lys2420Glu) c.7249A>G (p.Lys2417Glu) c.7210A>G (p.Lys2404Glu) c.7156A>G (p.Lys2386Glu) c.7060A>G (p.Lys2354Glu) c.7030A>G (p.Lys2344Glu) c.6955A>G (p.Lys2319Glu) c.6853A>G (p.Lys2285Glu) c.6484A>G (p.Lys2162Glu) | |
| 5 | g.112842927A>T | CA16037301 | APC | c.7387A>T (p.Lys2463Ter) c.*7339A>T (n.*7339A>T) c.7279A>T (p.Lys2427Ter) c.7333A>T (p.Lys2445Ter) c.231-13722A>T c.7363A>T (p.Lys2455Ter) c.7258A>T (p.Lys2420Ter) c.7249A>T (p.Lys2417Ter) c.7210A>T (p.Lys2404Ter) c.7156A>T (p.Lys2386Ter) c.7060A>T (p.Lys2354Ter) c.7030A>T (p.Lys2344Ter) c.6955A>T (p.Lys2319Ter) c.6853A>T (p.Lys2285Ter) c.6484A>T (p.Lys2162Ter) | dbSNP |
| 5 | g.112842928A= | CA1573469504 | APC | c.7388A= (p.Lys2463=) c.*7340A= (n.*7340A=) c.7280A= (p.Lys2427=) c.7334A= (p.Lys2445=) c.231-13721A= c.7364A= (p.Lys2455=) c.7259A= (p.Lys2420=) c.7250A= (p.Lys2417=) c.7211A= (p.Lys2404=) c.7157A= (p.Lys2386=) c.7061A= (p.Lys2354=) c.7031A= (p.Lys2344=) c.6956A= (p.Lys2319=) c.6854A= (p.Lys2285=) c.6485A= (p.Lys2162=) | |
| 5 | g.112842928A>C | CA16037302 | APC | c.7388A>C (p.Lys2463Thr) c.*7340A>C (n.*7340A>C) c.7280A>C (p.Lys2427Thr) c.7334A>C (p.Lys2445Thr) c.231-13721A>C c.7364A>C (p.Lys2455Thr) c.7259A>C (p.Lys2420Thr) c.7250A>C (p.Lys2417Thr) c.7211A>C (p.Lys2404Thr) c.7157A>C (p.Lys2386Thr) c.7061A>C (p.Lys2354Thr) c.7031A>C (p.Lys2344Thr) c.6956A>C (p.Lys2319Thr) c.6854A>C (p.Lys2285Thr) c.6485A>C (p.Lys2162Thr) | |
| 5 | g.112842928A>G | CA16037303 | APC | c.7388A>G (p.Lys2463Arg) c.*7340A>G (n.*7340A>G) c.7280A>G (p.Lys2427Arg) c.7334A>G (p.Lys2445Arg) c.231-13721A>G c.7364A>G (p.Lys2455Arg) c.7259A>G (p.Lys2420Arg) c.7250A>G (p.Lys2417Arg) c.7211A>G (p.Lys2404Arg) c.7157A>G (p.Lys2386Arg) c.7061A>G (p.Lys2354Arg) c.7031A>G (p.Lys2344Arg) c.6956A>G (p.Lys2319Arg) c.6854A>G (p.Lys2285Arg) c.6485A>G (p.Lys2162Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112842928A>T | CA16037304 | APC | c.7388A>T (p.Lys2463Ile) c.*7340A>T (n.*7340A>T) c.7280A>T (p.Lys2427Ile) c.7334A>T (p.Lys2445Ile) c.231-13721A>T c.7364A>T (p.Lys2455Ile) c.7259A>T (p.Lys2420Ile) c.7250A>T (p.Lys2417Ile) c.7211A>T (p.Lys2404Ile) c.7157A>T (p.Lys2386Ile) c.7061A>T (p.Lys2354Ile) c.7031A>T (p.Lys2344Ile) c.6956A>T (p.Lys2319Ile) c.6854A>T (p.Lys2285Ile) c.6485A>T (p.Lys2162Ile) | ClinVar dbSNP |
| 5 | g.112842929A= | CA1573469527 | APC | c.7389A= (p.Lys2463=) c.*7341A= (n.*7341A=) c.7281A= (p.Lys2427=) c.7335A= (p.Lys2445=) c.231-13720A= c.7365A= (p.Lys2455=) c.7260A= (p.Lys2420=) c.7251A= (p.Lys2417=) c.7212A= (p.Lys2404=) c.7158A= (p.Lys2386=) c.7062A= (p.Lys2354=) c.7032A= (p.Lys2344=) c.6957A= (p.Lys2319=) c.6855A= (p.Lys2285=) c.6486A= (p.Lys2162=) | |
| 5 | g.112842929A>C | CA16037305 | APC | c.7389A>C (p.Lys2463Asn) c.*7341A>C (n.*7341A>C) c.7281A>C (p.Lys2427Asn) c.7335A>C (p.Lys2445Asn) c.231-13720A>C c.7365A>C (p.Lys2455Asn) c.7260A>C (p.Lys2420Asn) c.7251A>C (p.Lys2417Asn) c.7212A>C (p.Lys2404Asn) c.7158A>C (p.Lys2386Asn) c.7062A>C (p.Lys2354Asn) c.7032A>C (p.Lys2344Asn) c.6957A>C (p.Lys2319Asn) c.6855A>C (p.Lys2285Asn) c.6486A>C (p.Lys2162Asn) | |
| 5 | g.112842929A>G | CA446210426 | APC | c.7389A>G (p.Lys2463=) c.*7341A>G (n.*7341A>G) c.7281A>G (p.Lys2427=) c.7335A>G (p.Lys2445=) c.231-13720A>G c.7365A>G (p.Lys2455=) c.7260A>G (p.Lys2420=) c.7251A>G (p.Lys2417=) c.7212A>G (p.Lys2404=) c.7158A>G (p.Lys2386=) c.7062A>G (p.Lys2354=) c.7032A>G (p.Lys2344=) c.6957A>G (p.Lys2319=) c.6855A>G (p.Lys2285=) c.6486A>G (p.Lys2162=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112842929A>T | CA16037306 | APC | c.7389A>T (p.Lys2463Asn) c.*7341A>T (n.*7341A>T) c.7281A>T (p.Lys2427Asn) c.7335A>T (p.Lys2445Asn) c.231-13720A>T c.7365A>T (p.Lys2455Asn) c.7260A>T (p.Lys2420Asn) c.7251A>T (p.Lys2417Asn) c.7212A>T (p.Lys2404Asn) c.7158A>T (p.Lys2386Asn) c.7062A>T (p.Lys2354Asn) c.7032A>T (p.Lys2344Asn) c.6957A>T (p.Lys2319Asn) c.6855A>T (p.Lys2285Asn) c.6486A>T (p.Lys2162Asn) | |
| 5 | g.112842930G>A | CA16037307 | APC | c.7390G>A (p.Glu2464Lys) c.*7342G>A (n.*7342G>A) c.7282G>A (p.Glu2428Lys) c.7336G>A (p.Glu2446Lys) c.231-13719G>A c.7366G>A (p.Glu2456Lys) c.7261G>A (p.Glu2421Lys) c.7252G>A (p.Glu2418Lys) c.7213G>A (p.Glu2405Lys) c.7159G>A (p.Glu2387Lys) c.7063G>A (p.Glu2355Lys) c.7033G>A (p.Glu2345Lys) c.6958G>A (p.Glu2320Lys) c.6856G>A (p.Glu2286Lys) c.6487G>A (p.Glu2163Lys) | dbSNP gnomAD v4 |
| 5 | g.112842930G>C | CA16037308 | APC | c.7390G>C (p.Glu2464Gln) c.*7342G>C (n.*7342G>C) c.7282G>C (p.Glu2428Gln) c.7336G>C (p.Glu2446Gln) c.231-13719G>C c.7366G>C (p.Glu2456Gln) c.7261G>C (p.Glu2421Gln) c.7252G>C (p.Glu2418Gln) c.7213G>C (p.Glu2405Gln) c.7159G>C (p.Glu2387Gln) c.7063G>C (p.Glu2355Gln) c.7033G>C (p.Glu2345Gln) c.6958G>C (p.Glu2320Gln) c.6856G>C (p.Glu2286Gln) c.6487G>C (p.Glu2163Gln) | dbSNP |
| 5 | g.112842930G>T | CA16037309 | APC | c.7390G>T (p.Glu2464Ter) c.*7342G>T (n.*7342G>T) c.7282G>T (p.Glu2428Ter) c.7336G>T (p.Glu2446Ter) c.231-13719G>T c.7366G>T (p.Glu2456Ter) c.7261G>T (p.Glu2421Ter) c.7252G>T (p.Glu2418Ter) c.7213G>T (p.Glu2405Ter) c.7159G>T (p.Glu2387Ter) c.7063G>T (p.Glu2355Ter) c.7033G>T (p.Glu2345Ter) c.6958G>T (p.Glu2320Ter) c.6856G>T (p.Glu2286Ter) c.6487G>T (p.Glu2163Ter) | ClinVar dbSNP |
| 5 | g.112842931A= | CA1573469539 | APC | c.7391A= (p.Glu2464=) c.*7343A= (n.*7343A=) c.7283A= (p.Glu2428=) c.7337A= (p.Glu2446=) c.231-13718A= c.7367A= (p.Glu2456=) c.7262A= (p.Glu2421=) c.7253A= (p.Glu2418=) c.7214A= (p.Glu2405=) c.7160A= (p.Glu2387=) c.7064A= (p.Glu2355=) c.7034A= (p.Glu2345=) c.6959A= (p.Glu2320=) c.6857A= (p.Glu2286=) c.6488A= (p.Glu2163=) | |
| 5 | g.112842931A>C | CA16037310 | APC | c.7391A>C (p.Glu2464Ala) c.*7343A>C (n.*7343A>C) c.7283A>C (p.Glu2428Ala) c.7337A>C (p.Glu2446Ala) c.231-13718A>C c.7367A>C (p.Glu2456Ala) c.7262A>C (p.Glu2421Ala) c.7253A>C (p.Glu2418Ala) c.7214A>C (p.Glu2405Ala) c.7160A>C (p.Glu2387Ala) c.7064A>C (p.Glu2355Ala) c.7034A>C (p.Glu2345Ala) c.6959A>C (p.Glu2320Ala) c.6857A>C (p.Glu2286Ala) c.6488A>C (p.Glu2163Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |