| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144398586C>A | CA348707806 | ZEB2 | c.*2450G>T (n.*2450G>T) c.1824G>T (p.Lys608Asn) c.2601G>T (p.Lys867Asn) n.2570G>T c.2265G>T (p.Lys755Asn) c.2676G>T (p.Lys892Asn) c.*2318G>T (n.*2318G>T) n.2701G>T c.132G>T (p.Lys44Asn) c.2598G>T (p.Lys866Asn) c.655+2613G>T (n.655+2613G>T) c.1168-658G>T (n.1168-658G>T) c.2529G>T (p.Lys843Asn) c.2592G>T (p.Lys864Asn) c.2580G>T (p.Lys860Asn) | |
| 2 | g.144398586C= | CA1294884958 | ZEB2 | c.*2450G= (n.*2450G=) c.1824G= (p.Lys608=) c.2601G= (p.Lys867=) n.2570G= c.2265G= (p.Lys755=) c.2676G= (p.Lys892=) c.*2318G= (n.*2318G=) n.2701G= c.132G= (p.Lys44=) c.2598G= (p.Lys866=) c.655+2613G= (n.655+2613G=) c.1168-658G= (n.1168-658G=) c.2529G= (p.Lys843=) c.2592G= (p.Lys864=) c.2580G= (p.Lys860=) | |
| 2 | g.144398586C>G | CA348707808 | ZEB2 | c.*2450G>C (n.*2450G>C) c.1824G>C (p.Lys608Asn) c.2601G>C (p.Lys867Asn) n.2570G>C c.2265G>C (p.Lys755Asn) c.2676G>C (p.Lys892Asn) c.*2318G>C (n.*2318G>C) n.2701G>C c.132G>C (p.Lys44Asn) c.2598G>C (p.Lys866Asn) c.655+2613G>C (n.655+2613G>C) c.1168-658G>C (n.1168-658G>C) c.2529G>C (p.Lys843Asn) c.2592G>C (p.Lys864Asn) c.2580G>C (p.Lys860Asn) | |
| 2 | g.144398586C>T | CA291675 | ZEB2 | c.*2450G>A (n.*2450G>A) c.1824G>A (p.Lys608=) c.2601G>A (p.Lys867=) n.2570G>A c.2265G>A (p.Lys755=) c.2676G>A (p.Lys892=) c.*2318G>A (n.*2318G>A) n.2701G>A c.132G>A (p.Lys44=) c.2598G>A (p.Lys866=) c.655+2613G>A (n.655+2613G>A) c.1168-658G>A (n.1168-658G>A) c.2529G>A (p.Lys843=) c.2592G>A (p.Lys864=) c.2580G>A (p.Lys860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144398587T>A | CA348707811 | ZEB2 | c.*2449A>T (n.*2449A>T) c.1823A>T (p.Lys608Met) c.2600A>T (p.Lys867Met) n.2569A>T c.2264A>T (p.Lys755Met) c.2675A>T (p.Lys892Met) c.*2317A>T (n.*2317A>T) n.2700A>T c.131A>T (p.Lys44Met) c.2597A>T (p.Lys866Met) c.655+2612A>T (n.655+2612A>T) c.1168-659A>T (n.1168-659A>T) c.2528A>T (p.Lys843Met) c.2591A>T (p.Lys864Met) c.2579A>T (p.Lys860Met) | |
| 2 | g.144398587T>C | CA348707813 | ZEB2 | c.*2449A>G (n.*2449A>G) c.1823A>G (p.Lys608Arg) c.2600A>G (p.Lys867Arg) n.2569A>G c.2264A>G (p.Lys755Arg) c.2675A>G (p.Lys892Arg) c.*2317A>G (n.*2317A>G) n.2700A>G c.131A>G (p.Lys44Arg) c.2597A>G (p.Lys866Arg) c.655+2612A>G (n.655+2612A>G) c.1168-659A>G (n.1168-659A>G) c.2528A>G (p.Lys843Arg) c.2591A>G (p.Lys864Arg) c.2579A>G (p.Lys860Arg) | |
| 2 | g.144398587T>G | CA348707814 | ZEB2 | c.*2449A>C (n.*2449A>C) c.1823A>C (p.Lys608Thr) c.2600A>C (p.Lys867Thr) n.2569A>C c.2264A>C (p.Lys755Thr) c.2675A>C (p.Lys892Thr) c.*2317A>C (n.*2317A>C) n.2700A>C c.131A>C (p.Lys44Thr) c.2597A>C (p.Lys866Thr) c.655+2612A>C (n.655+2612A>C) c.1168-659A>C (n.1168-659A>C) c.2528A>C (p.Lys843Thr) c.2591A>C (p.Lys864Thr) c.2579A>C (p.Lys860Thr) | |
| 2 | g.144398588T>A | CA348707817 | ZEB2 | c.*2448A>T (n.*2448A>T) c.1822A>T (p.Lys608Ter) c.2599A>T (p.Lys867Ter) n.2568A>T c.2263A>T (p.Lys755Ter) c.2674A>T (p.Lys892Ter) c.*2316A>T (n.*2316A>T) n.2699A>T c.130A>T (p.Lys44Ter) c.2596A>T (p.Lys866Ter) c.655+2611A>T (n.655+2611A>T) c.1168-660A>T (n.1168-660A>T) c.2527A>T (p.Lys843Ter) c.2590A>T (p.Lys864Ter) c.2578A>T (p.Lys860Ter) | |
| 2 | g.144398588T>C | CA348707819 | ZEB2 | c.*2448A>G (n.*2448A>G) c.1822A>G (p.Lys608Glu) c.2599A>G (p.Lys867Glu) n.2568A>G c.2263A>G (p.Lys755Glu) c.2674A>G (p.Lys892Glu) c.*2316A>G (n.*2316A>G) n.2699A>G c.130A>G (p.Lys44Glu) c.2596A>G (p.Lys866Glu) c.655+2611A>G (n.655+2611A>G) c.1168-660A>G (n.1168-660A>G) c.2527A>G (p.Lys843Glu) c.2590A>G (p.Lys864Glu) c.2578A>G (p.Lys860Glu) | |
| 2 | g.144398588T>G | CA348707820 | ZEB2 | c.*2448A>C (n.*2448A>C) c.1822A>C (p.Lys608Gln) c.2599A>C (p.Lys867Gln) n.2568A>C c.2263A>C (p.Lys755Gln) c.2674A>C (p.Lys892Gln) c.*2316A>C (n.*2316A>C) n.2699A>C c.130A>C (p.Lys44Gln) c.2596A>C (p.Lys866Gln) c.655+2611A>C (n.655+2611A>C) c.1168-660A>C (n.1168-660A>C) c.2527A>C (p.Lys843Gln) c.2590A>C (p.Lys864Gln) c.2578A>C (p.Lys860Gln) | |
| 2 | g.144398589C>A | CA348707822 | ZEB2 | c.*2447G>T (n.*2447G>T) c.1821G>T (p.Lys607Asn) c.2598G>T (p.Lys866Asn) n.2567G>T c.2262G>T (p.Lys754Asn) c.2673G>T (p.Lys891Asn) c.*2315G>T (n.*2315G>T) n.2698G>T c.129G>T (p.Lys43Asn) c.2595G>T (p.Lys865Asn) c.655+2610G>T (n.655+2610G>T) c.1168-661G>T (n.1168-661G>T) c.2526G>T (p.Lys842Asn) c.2589G>T (p.Lys863Asn) c.2577G>T (p.Lys859Asn) | |
| 2 | g.144398589C>G | CA348707823 | ZEB2 | c.*2447G>C (n.*2447G>C) c.1821G>C (p.Lys607Asn) c.2598G>C (p.Lys866Asn) n.2567G>C c.2262G>C (p.Lys754Asn) c.2673G>C (p.Lys891Asn) c.*2315G>C (n.*2315G>C) n.2698G>C c.129G>C (p.Lys43Asn) c.2595G>C (p.Lys865Asn) c.655+2610G>C (n.655+2610G>C) c.1168-661G>C (n.1168-661G>C) c.2526G>C (p.Lys842Asn) c.2589G>C (p.Lys863Asn) c.2577G>C (p.Lys859Asn) | COSMIC |
| 2 | g.144398589C>T | CA429445280 | ZEB2 | c.*2447G>A (n.*2447G>A) c.1821G>A (p.Lys607=) c.2598G>A (p.Lys866=) n.2567G>A c.2262G>A (p.Lys754=) c.2673G>A (p.Lys891=) c.*2315G>A (n.*2315G>A) n.2698G>A c.129G>A (p.Lys43=) c.2595G>A (p.Lys865=) c.655+2610G>A (n.655+2610G>A) c.1168-661G>A (n.1168-661G>A) c.2526G>A (p.Lys842=) c.2589G>A (p.Lys863=) c.2577G>A (p.Lys859=) | |
| 2 | g.144398590T>A | CA348707826 | ZEB2 | c.*2446A>T (n.*2446A>T) c.1820A>T (p.Lys607Met) c.2597A>T (p.Lys866Met) n.2566A>T c.2261A>T (p.Lys754Met) c.2672A>T (p.Lys891Met) c.*2314A>T (n.*2314A>T) n.2697A>T c.128A>T (p.Lys43Met) c.2594A>T (p.Lys865Met) c.655+2609A>T (n.655+2609A>T) c.1168-662A>T (n.1168-662A>T) c.2525A>T (p.Lys842Met) c.2588A>T (p.Lys863Met) c.2576A>T (p.Lys859Met) | ClinVar dbSNP |
| 2 | g.144398590T>C | CA348707828 | ZEB2 | c.*2446A>G (n.*2446A>G) c.1820A>G (p.Lys607Arg) c.2597A>G (p.Lys866Arg) n.2566A>G c.2261A>G (p.Lys754Arg) c.2672A>G (p.Lys891Arg) c.*2314A>G (n.*2314A>G) n.2697A>G c.128A>G (p.Lys43Arg) c.2594A>G (p.Lys865Arg) c.655+2609A>G (n.655+2609A>G) c.1168-662A>G (n.1168-662A>G) c.2525A>G (p.Lys842Arg) c.2588A>G (p.Lys863Arg) c.2576A>G (p.Lys859Arg) | |
| 2 | g.144398590T>G | CA348707829 | ZEB2 | c.*2446A>C (n.*2446A>C) c.1820A>C (p.Lys607Thr) c.2597A>C (p.Lys866Thr) n.2566A>C c.2261A>C (p.Lys754Thr) c.2672A>C (p.Lys891Thr) c.*2314A>C (n.*2314A>C) n.2697A>C c.128A>C (p.Lys43Thr) c.2594A>C (p.Lys865Thr) c.655+2609A>C (n.655+2609A>C) c.1168-662A>C (n.1168-662A>C) c.2525A>C (p.Lys842Thr) c.2588A>C (p.Lys863Thr) c.2576A>C (p.Lys859Thr) | |
| 2 | g.144398591T>A | CA348707831 | ZEB2 | c.*2445A>T (n.*2445A>T) c.1819A>T (p.Lys607Ter) c.2596A>T (p.Lys866Ter) n.2565A>T c.2260A>T (p.Lys754Ter) c.2671A>T (p.Lys891Ter) c.*2313A>T (n.*2313A>T) n.2696A>T c.127A>T (p.Lys43Ter) c.2593A>T (p.Lys865Ter) c.655+2608A>T (n.655+2608A>T) c.1168-663A>T (n.1168-663A>T) c.2524A>T (p.Lys842Ter) c.2587A>T (p.Lys863Ter) c.2575A>T (p.Lys859Ter) | |
| 2 | g.144398591T>C | CA348707833 | ZEB2 | c.*2445A>G (n.*2445A>G) c.1819A>G (p.Lys607Glu) c.2596A>G (p.Lys866Glu) n.2565A>G c.2260A>G (p.Lys754Glu) c.2671A>G (p.Lys891Glu) c.*2313A>G (n.*2313A>G) n.2696A>G c.127A>G (p.Lys43Glu) c.2593A>G (p.Lys865Glu) c.655+2608A>G (n.655+2608A>G) c.1168-663A>G (n.1168-663A>G) c.2524A>G (p.Lys842Glu) c.2587A>G (p.Lys863Glu) c.2575A>G (p.Lys859Glu) | |
| 2 | g.144398591T>G | CA348707835 | ZEB2 | c.*2445A>C (n.*2445A>C) c.1819A>C (p.Lys607Gln) c.2596A>C (p.Lys866Gln) n.2565A>C c.2260A>C (p.Lys754Gln) c.2671A>C (p.Lys891Gln) c.*2313A>C (n.*2313A>C) n.2696A>C c.127A>C (p.Lys43Gln) c.2593A>C (p.Lys865Gln) c.655+2608A>C (n.655+2608A>C) c.1168-663A>C (n.1168-663A>C) c.2524A>C (p.Lys842Gln) c.2587A>C (p.Lys863Gln) c.2575A>C (p.Lys859Gln) | |
| 2 | g.144398592G>A | CA429445282 | ZEB2 | c.*2444C>T (n.*2444C>T) c.1818C>T (p.Ile606=) c.2595C>T (p.Ile865=) n.2564C>T c.2259C>T (p.Ile753=) c.2670C>T (p.Ile890=) c.*2312C>T (n.*2312C>T) n.2695C>T c.126C>T (p.Ile42=) c.2592C>T (p.Ile864=) c.655+2607C>T (n.655+2607C>T) c.1168-664C>T (n.1168-664C>T) c.2523C>T (p.Ile841=) c.2586C>T (p.Ile862=) c.2574C>T (p.Ile858=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144398592G>C | CA348707836 | ZEB2 | c.*2444C>G (n.*2444C>G) c.1818C>G (p.Ile606Met) c.2595C>G (p.Ile865Met) n.2564C>G c.2259C>G (p.Ile753Met) c.2670C>G (p.Ile890Met) c.*2312C>G (n.*2312C>G) n.2695C>G c.126C>G (p.Ile42Met) c.2592C>G (p.Ile864Met) c.655+2607C>G (n.655+2607C>G) c.1168-664C>G (n.1168-664C>G) c.2523C>G (p.Ile841Met) c.2586C>G (p.Ile862Met) c.2574C>G (p.Ile858Met) | |
| 2 | g.144398592G= | CA1294884959 | ZEB2 | c.*2444C= (n.*2444C=) c.1818C= (p.Ile606=) c.2595C= (p.Ile865=) n.2564C= c.2259C= (p.Ile753=) c.2670C= (p.Ile890=) c.*2312C= (n.*2312C=) n.2695C= c.126C= (p.Ile42=) c.2592C= (p.Ile864=) c.655+2607C= (n.655+2607C=) c.1168-664C= (n.1168-664C=) c.2523C= (p.Ile841=) c.2586C= (p.Ile862=) c.2574C= (p.Ile858=) | |
| 2 | g.144398592G>T | CA429445287 | ZEB2 | c.*2444C>A (n.*2444C>A) c.1818C>A (p.Ile606=) c.2595C>A (p.Ile865=) n.2564C>A c.2259C>A (p.Ile753=) c.2670C>A (p.Ile890=) c.*2312C>A (n.*2312C>A) n.2695C>A c.126C>A (p.Ile42=) c.2592C>A (p.Ile864=) c.655+2607C>A (n.655+2607C>A) c.1168-664C>A (n.1168-664C>A) c.2523C>A (p.Ile841=) c.2586C>A (p.Ile862=) c.2574C>A (p.Ile858=) | |
| 2 | g.144398593A>C | CA348707838 | ZEB2 | c.*2443T>G (n.*2443T>G) c.1817T>G (p.Ile606Ser) c.2594T>G (p.Ile865Ser) n.2563T>G c.2258T>G (p.Ile753Ser) c.2669T>G (p.Ile890Ser) c.*2311T>G (n.*2311T>G) n.2694T>G c.125T>G (p.Ile42Ser) c.2591T>G (p.Ile864Ser) c.655+2606T>G (n.655+2606T>G) c.1168-665T>G (n.1168-665T>G) c.2522T>G (p.Ile841Ser) c.2585T>G (p.Ile862Ser) c.2573T>G (p.Ile858Ser) | |
| 2 | g.144398593A>G | CA348707839 | ZEB2 | c.*2443T>C (n.*2443T>C) c.1817T>C (p.Ile606Thr) c.2594T>C (p.Ile865Thr) n.2563T>C c.2258T>C (p.Ile753Thr) c.2669T>C (p.Ile890Thr) c.*2311T>C (n.*2311T>C) n.2694T>C c.125T>C (p.Ile42Thr) c.2591T>C (p.Ile864Thr) c.655+2606T>C (n.655+2606T>C) c.1168-665T>C (n.1168-665T>C) c.2522T>C (p.Ile841Thr) c.2585T>C (p.Ile862Thr) c.2573T>C (p.Ile858Thr) | COSMIC |
| 2 | g.144398593A>T | CA348707841 | ZEB2 | c.*2443T>A (n.*2443T>A) c.1817T>A (p.Ile606Asn) c.2594T>A (p.Ile865Asn) n.2563T>A c.2258T>A (p.Ile753Asn) c.2669T>A (p.Ile890Asn) c.*2311T>A (n.*2311T>A) n.2694T>A c.125T>A (p.Ile42Asn) c.2591T>A (p.Ile864Asn) c.655+2606T>A (n.655+2606T>A) c.1168-665T>A (n.1168-665T>A) c.2522T>A (p.Ile841Asn) c.2585T>A (p.Ile862Asn) c.2573T>A (p.Ile858Asn) | |
| 2 | g.144398594T>A | CA348707843 | ZEB2 | c.*2442A>T (n.*2442A>T) c.1816A>T (p.Ile606Phe) c.2593A>T (p.Ile865Phe) n.2562A>T c.2257A>T (p.Ile753Phe) c.2668A>T (p.Ile890Phe) c.*2310A>T (n.*2310A>T) n.2693A>T c.124A>T (p.Ile42Phe) c.2590A>T (p.Ile864Phe) c.655+2605A>T (n.655+2605A>T) c.1168-666A>T (n.1168-666A>T) c.2521A>T (p.Ile841Phe) c.2584A>T (p.Ile862Phe) c.2572A>T (p.Ile858Phe) | |
| 2 | g.144398594T>C | CA348707845 | ZEB2 | c.*2442A>G (n.*2442A>G) c.1816A>G (p.Ile606Val) c.2593A>G (p.Ile865Val) n.2562A>G c.2257A>G (p.Ile753Val) c.2668A>G (p.Ile890Val) c.*2310A>G (n.*2310A>G) n.2693A>G c.124A>G (p.Ile42Val) c.2590A>G (p.Ile864Val) c.655+2605A>G (n.655+2605A>G) c.1168-666A>G (n.1168-666A>G) c.2521A>G (p.Ile841Val) c.2584A>G (p.Ile862Val) c.2572A>G (p.Ile858Val) | |
| 2 | g.144398594T>G | CA348707846 | ZEB2 | c.*2442A>C (n.*2442A>C) c.1816A>C (p.Ile606Leu) c.2593A>C (p.Ile865Leu) n.2562A>C c.2257A>C (p.Ile753Leu) c.2668A>C (p.Ile890Leu) c.*2310A>C (n.*2310A>C) n.2693A>C c.124A>C (p.Ile42Leu) c.2590A>C (p.Ile864Leu) c.655+2605A>C (n.655+2605A>C) c.1168-666A>C (n.1168-666A>C) c.2521A>C (p.Ile841Leu) c.2584A>C (p.Ile862Leu) c.2572A>C (p.Ile858Leu) | |
| 2 | g.144398595A>C | CA348707848 | ZEB2 | c.*2441T>G (n.*2441T>G) c.1815T>G (p.Phe605Leu) c.2592T>G (p.Phe864Leu) n.2561T>G c.2256T>G (p.Phe752Leu) c.2667T>G (p.Phe889Leu) c.*2309T>G (n.*2309T>G) n.2692T>G c.123T>G (p.Phe41Leu) c.2589T>G (p.Phe863Leu) c.655+2604T>G (n.655+2604T>G) c.1168-667T>G (n.1168-667T>G) c.2520T>G (p.Phe840Leu) c.2583T>G (p.Phe861Leu) c.2571T>G (p.Phe857Leu) | |
| 2 | g.144398595A>G | CA429445564 | ZEB2 | c.*2441T>C (n.*2441T>C) c.1815T>C (p.Phe605=) c.2592T>C (p.Phe864=) n.2561T>C c.2256T>C (p.Phe752=) c.2667T>C (p.Phe889=) c.*2309T>C (n.*2309T>C) n.2692T>C c.123T>C (p.Phe41=) c.2589T>C (p.Phe863=) c.655+2604T>C (n.655+2604T>C) c.1168-667T>C (n.1168-667T>C) c.2520T>C (p.Phe840=) c.2583T>C (p.Phe861=) c.2571T>C (p.Phe857=) | |
| 2 | g.144398595A>T | CA348707850 | ZEB2 | c.*2441T>A (n.*2441T>A) c.1815T>A (p.Phe605Leu) c.2592T>A (p.Phe864Leu) n.2561T>A c.2256T>A (p.Phe752Leu) c.2667T>A (p.Phe889Leu) c.*2309T>A (n.*2309T>A) n.2692T>A c.123T>A (p.Phe41Leu) c.2589T>A (p.Phe863Leu) c.655+2604T>A (n.655+2604T>A) c.1168-667T>A (n.1168-667T>A) c.2520T>A (p.Phe840Leu) c.2583T>A (p.Phe861Leu) c.2571T>A (p.Phe857Leu) | COSMIC |
| 2 | g.144398598del | CA2499214971 | ZEB2 | c.*2441del (n.*2441del) c.1815del (p.Phe605LeufsTer23) c.2592del (p.Phe864LeufsTer23) n.2561del c.2256del (p.Phe752LeufsTer23) c.2667del (p.Phe889LeufsTer23) c.*2309del (n.*2309del) n.2692del c.123del (p.Phe41LeufsTer23) c.2589del (p.Phe863LeufsTer23) c.655+2604del (n.655+2604del) c.1168-667del (n.1168-667del) c.2520del (p.Phe840LeufsTer23) c.2583del (p.Phe861LeufsTer23) c.2571del (p.Phe857LeufsTer23) | ClinVar dbSNP |
| 2 | g.144398596A>C | CA348707852 | ZEB2 | c.*2440T>G (n.*2440T>G) c.1814T>G (p.Phe605Cys) c.2591T>G (p.Phe864Cys) n.2560T>G c.2255T>G (p.Phe752Cys) c.2666T>G (p.Phe889Cys) c.*2308T>G (n.*2308T>G) n.2691T>G c.122T>G (p.Phe41Cys) c.2588T>G (p.Phe863Cys) c.655+2603T>G (n.655+2603T>G) c.1168-668T>G (n.1168-668T>G) c.2519T>G (p.Phe840Cys) c.2582T>G (p.Phe861Cys) c.2570T>G (p.Phe857Cys) | COSMIC |
| 2 | g.144398596A>G | CA348707854 | ZEB2 | c.*2440T>C (n.*2440T>C) c.1814T>C (p.Phe605Ser) c.2591T>C (p.Phe864Ser) n.2560T>C c.2255T>C (p.Phe752Ser) c.2666T>C (p.Phe889Ser) c.*2308T>C (n.*2308T>C) n.2691T>C c.122T>C (p.Phe41Ser) c.2588T>C (p.Phe863Ser) c.655+2603T>C (n.655+2603T>C) c.1168-668T>C (n.1168-668T>C) c.2519T>C (p.Phe840Ser) c.2582T>C (p.Phe861Ser) c.2570T>C (p.Phe857Ser) | |
| 2 | g.144398596A>T | CA348707855 | ZEB2 | c.*2440T>A (n.*2440T>A) c.1814T>A (p.Phe605Tyr) c.2591T>A (p.Phe864Tyr) n.2560T>A c.2255T>A (p.Phe752Tyr) c.2666T>A (p.Phe889Tyr) c.*2308T>A (n.*2308T>A) n.2691T>A c.122T>A (p.Phe41Tyr) c.2588T>A (p.Phe863Tyr) c.655+2603T>A (n.655+2603T>A) c.1168-668T>A (n.1168-668T>A) c.2519T>A (p.Phe840Tyr) c.2582T>A (p.Phe861Tyr) c.2570T>A (p.Phe857Tyr) | |
| 2 | g.144398597A>C | CA348707858 | ZEB2 | c.*2439T>G (n.*2439T>G) c.1813T>G (p.Phe605Val) c.2590T>G (p.Phe864Val) n.2559T>G c.2254T>G (p.Phe752Val) c.2665T>G (p.Phe889Val) c.*2307T>G (n.*2307T>G) n.2690T>G c.121T>G (p.Phe41Val) c.2587T>G (p.Phe863Val) c.655+2602T>G (n.655+2602T>G) c.1168-669T>G (n.1168-669T>G) c.2518T>G (p.Phe840Val) c.2581T>G (p.Phe861Val) c.2569T>G (p.Phe857Val) | |
| 2 | g.144398597A>G | CA348707859 | ZEB2 | c.*2439T>C (n.*2439T>C) c.1813T>C (p.Phe605Leu) c.2590T>C (p.Phe864Leu) n.2559T>C c.2254T>C (p.Phe752Leu) c.2665T>C (p.Phe889Leu) c.*2307T>C (n.*2307T>C) n.2690T>C c.121T>C (p.Phe41Leu) c.2587T>C (p.Phe863Leu) c.655+2602T>C (n.655+2602T>C) c.1168-669T>C (n.1168-669T>C) c.2518T>C (p.Phe840Leu) c.2581T>C (p.Phe861Leu) c.2569T>C (p.Phe857Leu) | |
| 2 | g.144398597A>T | CA348707861 | ZEB2 | c.*2439T>A (n.*2439T>A) c.1813T>A (p.Phe605Ile) c.2590T>A (p.Phe864Ile) n.2559T>A c.2254T>A (p.Phe752Ile) c.2665T>A (p.Phe889Ile) c.*2307T>A (n.*2307T>A) n.2690T>A c.121T>A (p.Phe41Ile) c.2587T>A (p.Phe863Ile) c.655+2602T>A (n.655+2602T>A) c.1168-669T>A (n.1168-669T>A) c.2518T>A (p.Phe840Ile) c.2581T>A (p.Phe861Ile) c.2569T>A (p.Phe857Ile) | |
| 2 | g.144398598A= | CA1294884960 | ZEB2 | c.*2438T= (n.*2438T=) c.1812T= (p.Thr604=) c.2589T= (p.Thr863=) n.2558T= c.2253T= (p.Thr751=) c.2664T= (p.Thr888=) c.*2306T= (n.*2306T=) n.2689T= c.120T= (p.Thr40=) c.2586T= (p.Thr862=) c.655+2601T= (n.655+2601T=) c.1168-670T= (n.1168-670T=) c.2517T= (p.Thr839=) c.2580T= (p.Thr860=) c.2568T= (p.Thr856=) | |
| 2 | g.144398598A>C | CA429445568 | ZEB2 | c.*2438T>G (n.*2438T>G) c.1812T>G (p.Thr604=) c.2589T>G (p.Thr863=) n.2558T>G c.2253T>G (p.Thr751=) c.2664T>G (p.Thr888=) c.*2306T>G (n.*2306T>G) n.2689T>G c.120T>G (p.Thr40=) c.2586T>G (p.Thr862=) c.655+2601T>G (n.655+2601T>G) c.1168-670T>G (n.1168-670T>G) c.2517T>G (p.Thr839=) c.2580T>G (p.Thr860=) c.2568T>G (p.Thr856=) | |
| 2 | g.144398598A>G | CA57554934 | ZEB2 | c.*2438T>C (n.*2438T>C) c.1812T>C (p.Thr604=) c.2589T>C (p.Thr863=) n.2558T>C c.2253T>C (p.Thr751=) c.2664T>C (p.Thr888=) c.*2306T>C (n.*2306T>C) n.2689T>C c.120T>C (p.Thr40=) c.2586T>C (p.Thr862=) c.655+2601T>C (n.655+2601T>C) c.1168-670T>C (n.1168-670T>C) c.2517T>C (p.Thr839=) c.2580T>C (p.Thr860=) c.2568T>C (p.Thr856=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144398598A>T | CA429445569 | ZEB2 | c.*2438T>A (n.*2438T>A) c.1812T>A (p.Thr604=) c.2589T>A (p.Thr863=) n.2558T>A c.2253T>A (p.Thr751=) c.2664T>A (p.Thr888=) c.*2306T>A (n.*2306T>A) n.2689T>A c.120T>A (p.Thr40=) c.2586T>A (p.Thr862=) c.655+2601T>A (n.655+2601T>A) c.1168-670T>A (n.1168-670T>A) c.2517T>A (p.Thr839=) c.2580T>A (p.Thr860=) c.2568T>A (p.Thr856=) | |
| 2 | g.144398599G>A | CA348707862 | ZEB2 | c.*2437C>T (n.*2437C>T) c.1811C>T (p.Thr604Ile) c.2588C>T (p.Thr863Ile) n.2557C>T c.2252C>T (p.Thr751Ile) c.2663C>T (p.Thr888Ile) c.*2305C>T (n.*2305C>T) n.2688C>T c.119C>T (p.Thr40Ile) c.2585C>T (p.Thr862Ile) c.655+2600C>T (n.655+2600C>T) c.1168-671C>T (n.1168-671C>T) c.2516C>T (p.Thr839Ile) c.2579C>T (p.Thr860Ile) c.2567C>T (p.Thr856Ile) | gnomAD v4 |
| 2 | g.144398599G>C | CA348707864 | ZEB2 | c.*2437C>G (n.*2437C>G) c.1811C>G (p.Thr604Ser) c.2588C>G (p.Thr863Ser) n.2557C>G c.2252C>G (p.Thr751Ser) c.2663C>G (p.Thr888Ser) c.*2305C>G (n.*2305C>G) n.2688C>G c.119C>G (p.Thr40Ser) c.2585C>G (p.Thr862Ser) c.655+2600C>G (n.655+2600C>G) c.1168-671C>G (n.1168-671C>G) c.2516C>G (p.Thr839Ser) c.2579C>G (p.Thr860Ser) c.2567C>G (p.Thr856Ser) | |
| 2 | g.144398599G>T | CA348707866 | ZEB2 | c.*2437C>A (n.*2437C>A) c.1811C>A (p.Thr604Asn) c.2588C>A (p.Thr863Asn) n.2557C>A c.2252C>A (p.Thr751Asn) c.2663C>A (p.Thr888Asn) c.*2305C>A (n.*2305C>A) n.2688C>A c.119C>A (p.Thr40Asn) c.2585C>A (p.Thr862Asn) c.655+2600C>A (n.655+2600C>A) c.1168-671C>A (n.1168-671C>A) c.2516C>A (p.Thr839Asn) c.2579C>A (p.Thr860Asn) c.2567C>A (p.Thr856Asn) | |
| 2 | g.144398600T>A | CA348707868 | ZEB2 | c.*2436A>T (n.*2436A>T) c.1810A>T (p.Thr604Ser) c.2587A>T (p.Thr863Ser) n.2556A>T c.2251A>T (p.Thr751Ser) c.2662A>T (p.Thr888Ser) c.*2304A>T (n.*2304A>T) n.2687A>T c.118A>T (p.Thr40Ser) c.2584A>T (p.Thr862Ser) c.655+2599A>T (n.655+2599A>T) c.1168-672A>T (n.1168-672A>T) c.2515A>T (p.Thr839Ser) c.2578A>T (p.Thr860Ser) c.2566A>T (p.Thr856Ser) | |
| 2 | g.144398600T>C | CA348707869 | ZEB2 | c.*2436A>G (n.*2436A>G) c.1810A>G (p.Thr604Ala) c.2587A>G (p.Thr863Ala) n.2556A>G c.2251A>G (p.Thr751Ala) c.2662A>G (p.Thr888Ala) c.*2304A>G (n.*2304A>G) n.2687A>G c.118A>G (p.Thr40Ala) c.2584A>G (p.Thr862Ala) c.655+2599A>G (n.655+2599A>G) c.1168-672A>G (n.1168-672A>G) c.2515A>G (p.Thr839Ala) c.2578A>G (p.Thr860Ala) c.2566A>G (p.Thr856Ala) | |
| 2 | g.144398600T>G | CA348707871 | ZEB2 | c.*2436A>C (n.*2436A>C) c.1810A>C (p.Thr604Pro) c.2587A>C (p.Thr863Pro) n.2556A>C c.2251A>C (p.Thr751Pro) c.2662A>C (p.Thr888Pro) c.*2304A>C (n.*2304A>C) n.2687A>C c.118A>C (p.Thr40Pro) c.2584A>C (p.Thr862Pro) c.655+2599A>C (n.655+2599A>C) c.1168-672A>C (n.1168-672A>C) c.2515A>C (p.Thr839Pro) c.2578A>C (p.Thr860Pro) c.2566A>C (p.Thr856Pro) | |
| 2 | g.144398601C>A | CA348707874 | ZEB2 | c.*2435G>T (n.*2435G>T) c.1809G>T (p.Leu603Phe) c.2586G>T (p.Leu862Phe) n.2555G>T c.2250G>T (p.Leu750Phe) c.2661G>T (p.Leu887Phe) c.*2303G>T (n.*2303G>T) n.2686G>T c.117G>T (p.Leu39Phe) c.2583G>T (p.Leu861Phe) c.655+2598G>T (n.655+2598G>T) c.1168-673G>T (n.1168-673G>T) c.2514G>T (p.Leu838Phe) c.2577G>T (p.Leu859Phe) c.2565G>T (p.Leu855Phe) | gnomAD v4 |