| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6593156C>A | CA383591977 | CHD4 | c.2548G>T (p.Gly850Cys) c.2587G>T (p.Gly863Cys) c.2578G>T (p.Gly860Cys) c.2513G>T c.2527G>T (p.Gly843Cys) c.2566G>T (p.Gly856Cys) c.1304G>T c.2554G>T (p.Gly852Cys) c.445G>T (p.Gly149Cys) n.542G>T n.2167G>T c.1515G>T c.588G>T | |
| 12 | g.6593156C>G | CA383591980 | CHD4 | c.2548G>C (p.Gly850Arg) c.2587G>C (p.Gly863Arg) c.2578G>C (p.Gly860Arg) c.2513G>C c.2527G>C (p.Gly843Arg) c.2566G>C (p.Gly856Arg) c.1304G>C c.2554G>C (p.Gly852Arg) c.445G>C (p.Gly149Arg) n.542G>C n.2167G>C c.1515G>C c.588G>C | |
| 12 | g.6593156C>T | CA383591982 | CHD4 | c.2548G>A (p.Gly850Ser) c.2587G>A (p.Gly863Ser) c.2578G>A (p.Gly860Ser) c.2513G>A c.2527G>A (p.Gly843Ser) c.2566G>A (p.Gly856Ser) c.1304G>A c.2554G>A (p.Gly852Ser) c.445G>A (p.Gly149Ser) n.542G>A n.2167G>A c.1515G>A c.588G>A | |
| 12 | g.6593157C>A | CA383591986 | CHD4 | c.2547G>T (p.Leu849Phe) c.2586G>T (p.Leu862Phe) c.2577G>T (p.Leu859Phe) c.2512G>T c.2526G>T (p.Leu842Phe) c.2565G>T (p.Leu855Phe) c.1303G>T c.2553G>T (p.Leu851Phe) c.444G>T (p.Leu148Phe) n.541G>T n.2166G>T c.1514G>T c.587G>T | |
| 12 | g.6593157C>G | CA383591989 | CHD4 | c.2547G>C (p.Leu849Phe) c.2586G>C (p.Leu862Phe) c.2577G>C (p.Leu859Phe) c.2512G>C c.2526G>C (p.Leu842Phe) c.2565G>C (p.Leu855Phe) c.1303G>C c.2553G>C (p.Leu851Phe) c.444G>C (p.Leu148Phe) n.541G>C n.2166G>C c.1514G>C c.587G>C | |
| 12 | g.6593157C>T | CA478131991 | CHD4 | c.2547G>A (p.Leu849=) c.2586G>A (p.Leu862=) c.2577G>A (p.Leu859=) c.2512G>A c.2526G>A (p.Leu842=) c.2565G>A (p.Leu855=) c.1303G>A c.2553G>A (p.Leu851=) c.444G>A (p.Leu148=) n.541G>A n.2166G>A c.1514G>A c.587G>A | |
| 12 | g.6593158A>C | CA383591994 | CHD4 | c.2546T>G (p.Leu849Trp) c.2585T>G (p.Leu862Trp) c.2576T>G (p.Leu859Trp) c.2511T>G c.2525T>G (p.Leu842Trp) c.2564T>G (p.Leu855Trp) c.1302T>G c.2552T>G (p.Leu851Trp) c.443T>G (p.Leu148Trp) n.540T>G n.2165T>G c.1513T>G c.586T>G | |
| 12 | g.6593158A>G | CA383592001 | CHD4 | c.2546T>C (p.Leu849Ser) c.2585T>C (p.Leu862Ser) c.2576T>C (p.Leu859Ser) c.2511T>C c.2525T>C (p.Leu842Ser) c.2564T>C (p.Leu855Ser) c.1302T>C c.2552T>C (p.Leu851Ser) c.443T>C (p.Leu148Ser) n.540T>C n.2165T>C c.1513T>C c.586T>C | |
| 12 | g.6593158A>T | CA383592003 | CHD4 | c.2546T>A (p.Leu849Ter) c.2585T>A (p.Leu862Ter) c.2576T>A (p.Leu859Ter) c.2511T>A c.2525T>A (p.Leu842Ter) c.2564T>A (p.Leu855Ter) c.1302T>A c.2552T>A (p.Leu851Ter) c.443T>A (p.Leu148Ter) n.540T>A n.2165T>A c.1513T>A c.586T>A | |
| 12 | g.6593159A>C | CA383592005 | CHD4 | c.2545T>G (p.Leu849Val) c.2584T>G (p.Leu862Val) c.2575T>G (p.Leu859Val) c.2510T>G c.2524T>G (p.Leu842Val) c.2563T>G (p.Leu855Val) c.1301T>G c.2551T>G (p.Leu851Val) c.442T>G (p.Leu148Val) n.539T>G n.2164T>G c.1512T>G c.585T>G | |
| 12 | g.6593159A>G | CA478131992 | CHD4 | c.2545T>C (p.Leu849=) c.2584T>C (p.Leu862=) c.2575T>C (p.Leu859=) c.2510T>C c.2524T>C (p.Leu842=) c.2563T>C (p.Leu855=) c.1301T>C c.2551T>C (p.Leu851=) c.442T>C (p.Leu148=) n.539T>C n.2164T>C c.1512T>C c.585T>C | |
| 12 | g.6593159A>T | CA383592009 | CHD4 | c.2545T>A (p.Leu849Met) c.2584T>A (p.Leu862Met) c.2575T>A (p.Leu859Met) c.2510T>A c.2524T>A (p.Leu842Met) c.2563T>A (p.Leu855Met) c.1301T>A c.2551T>A (p.Leu851Met) c.442T>A (p.Leu148Met) n.539T>A n.2164T>A c.1512T>A c.585T>A | |
| 12 | g.6593160A>C | CA383592015 | CHD4 | c.2544T>G (p.Ile848Met) c.2583T>G (p.Ile861Met) c.2574T>G (p.Ile858Met) c.2509T>G c.2523T>G (p.Ile841Met) c.2562T>G (p.Ile854Met) c.1300T>G c.2550T>G (p.Ile850Met) c.441T>G (p.Ile147Met) n.538T>G n.2163T>G c.1511T>G c.584T>G | |
| 12 | g.6593160A>G | CA478131993 | CHD4 | c.2544T>C (p.Ile848=) c.2583T>C (p.Ile861=) c.2574T>C (p.Ile858=) c.2509T>C c.2523T>C (p.Ile841=) c.2562T>C (p.Ile854=) c.1300T>C c.2550T>C (p.Ile850=) c.441T>C (p.Ile147=) n.538T>C n.2163T>C c.1511T>C c.584T>C | |
| 12 | g.6593160A>T | CA478131995 | CHD4 | c.2544T>A (p.Ile848=) c.2583T>A (p.Ile861=) c.2574T>A (p.Ile858=) c.2509T>A c.2523T>A (p.Ile841=) c.2562T>A (p.Ile854=) c.1300T>A c.2550T>A (p.Ile850=) c.441T>A (p.Ile147=) n.538T>A n.2163T>A c.1511T>A c.584T>A | |
| 12 | g.6593161A>C | CA383592018 | CHD4 | c.2543T>G (p.Ile848Ser) c.2582T>G (p.Ile861Ser) c.2573T>G (p.Ile858Ser) c.2508T>G c.2522T>G (p.Ile841Ser) c.2561T>G (p.Ile854Ser) c.1299T>G c.2549T>G (p.Ile850Ser) c.440T>G (p.Ile147Ser) n.537T>G n.2162T>G c.1510T>G c.583T>G | |
| 12 | g.6593161A>G | CA383592022 | CHD4 | c.2543T>C (p.Ile848Thr) c.2582T>C (p.Ile861Thr) c.2573T>C (p.Ile858Thr) c.2508T>C c.2522T>C (p.Ile841Thr) c.2561T>C (p.Ile854Thr) c.1299T>C c.2549T>C (p.Ile850Thr) c.440T>C (p.Ile147Thr) n.537T>C n.2162T>C c.1510T>C c.583T>C | |
| 12 | g.6593161A>T | CA383592024 | CHD4 | c.2543T>A (p.Ile848Asn) c.2582T>A (p.Ile861Asn) c.2573T>A (p.Ile858Asn) c.2508T>A c.2522T>A (p.Ile841Asn) c.2561T>A (p.Ile854Asn) c.1299T>A c.2549T>A (p.Ile850Asn) c.440T>A (p.Ile147Asn) n.537T>A n.2162T>A c.1510T>A c.583T>A | |
| 12 | g.6593162T>A | CA383592027 | CHD4 | c.2542A>T (p.Ile848Phe) c.2581A>T (p.Ile861Phe) c.2572A>T (p.Ile858Phe) c.2507A>T c.2521A>T (p.Ile841Phe) c.2560A>T (p.Ile854Phe) c.1298A>T c.2548A>T (p.Ile850Phe) c.439A>T (p.Ile147Phe) n.536A>T n.2161A>T c.1509A>T c.582A>T | dbSNP |
| 12 | g.6593162T>C | CA6411940 | CHD4 | c.2542A>G (p.Ile848Val) c.2581A>G (p.Ile861Val) c.2572A>G (p.Ile858Val) c.2507A>G c.2521A>G (p.Ile841Val) c.2560A>G (p.Ile854Val) c.1298A>G c.2548A>G (p.Ile850Val) c.439A>G (p.Ile147Val) n.536A>G n.2161A>G c.1509A>G c.582A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593162T>G | CA383592031 | CHD4 | c.2542A>C (p.Ile848Leu) c.2581A>C (p.Ile861Leu) c.2572A>C (p.Ile858Leu) c.2507A>C c.2521A>C (p.Ile841Leu) c.2560A>C (p.Ile854Leu) c.1298A>C c.2548A>C (p.Ile850Leu) c.439A>C (p.Ile147Leu) n.536A>C n.2161A>C c.1509A>C c.582A>C | |
| 12 | g.6593162T= | CA2014149224 | CHD4 | c.2542A= (p.Ile848=) c.2581A= (p.Ile861=) c.2572A= (p.Ile858=) c.2507A= c.2521A= (p.Ile841=) c.2560A= (p.Ile854=) c.1298A= c.2548A= (p.Ile850=) c.439A= (p.Ile147=) n.536A= n.2161A= c.1509A= c.582A= | |
| 12 | g.6593163A>C | CA478131996 | CHD4 | c.2541T>G (p.Ala847=) c.2580T>G (p.Ala860=) c.2571T>G (p.Ala857=) c.2506T>G c.2520T>G (p.Ala840=) c.2559T>G (p.Ala853=) c.1297T>G c.2547T>G (p.Ala849=) c.438T>G (p.Ala146=) n.535T>G n.2160T>G c.1508T>G c.581T>G | |
| 12 | g.6593163A>G | CA478131998 | CHD4 | c.2541T>C (p.Ala847=) c.2580T>C (p.Ala860=) c.2571T>C (p.Ala857=) c.2506T>C c.2520T>C (p.Ala840=) c.2559T>C (p.Ala853=) c.1297T>C c.2547T>C (p.Ala849=) c.438T>C (p.Ala146=) n.535T>C n.2160T>C c.1508T>C c.581T>C | gnomAD v4 |
| 12 | g.6593163A>T | CA478131997 | CHD4 | c.2541T>A (p.Ala847=) c.2580T>A (p.Ala860=) c.2571T>A (p.Ala857=) c.2506T>A c.2520T>A (p.Ala840=) c.2559T>A (p.Ala853=) c.1297T>A c.2547T>A (p.Ala849=) c.438T>A (p.Ala146=) n.535T>A n.2160T>A c.1508T>A c.581T>A | |
| 12 | g.6593164G>A | CA383592035 | CHD4 | c.2540C>T (p.Ala847Val) c.2579C>T (p.Ala860Val) c.2570C>T (p.Ala857Val) c.2505C>T c.2519C>T (p.Ala840Val) c.2558C>T (p.Ala853Val) c.1296C>T c.2546C>T (p.Ala849Val) c.437C>T (p.Ala146Val) n.534C>T n.2159C>T c.1507C>T c.580C>T | |
| 12 | g.6593164G>C | CA383592046 | CHD4 | c.2540C>G (p.Ala847Gly) c.2579C>G (p.Ala860Gly) c.2570C>G (p.Ala857Gly) c.2505C>G c.2519C>G (p.Ala840Gly) c.2558C>G (p.Ala853Gly) c.1296C>G c.2546C>G (p.Ala849Gly) c.437C>G (p.Ala146Gly) n.534C>G n.2159C>G c.1507C>G c.580C>G | |
| 12 | g.6593164G>T | CA383592047 | CHD4 | c.2540C>A (p.Ala847Asp) c.2579C>A (p.Ala860Asp) c.2570C>A (p.Ala857Asp) c.2505C>A c.2519C>A (p.Ala840Asp) c.2558C>A (p.Ala853Asp) c.1296C>A c.2546C>A (p.Ala849Asp) c.437C>A (p.Ala146Asp) n.534C>A n.2159C>A c.1507C>A c.580C>A | |
| 12 | g.6593165C>A | CA383592051 | CHD4 | c.2539G>T (p.Ala847Ser) c.2578G>T (p.Ala860Ser) c.2569G>T (p.Ala857Ser) c.2504G>T c.2518G>T (p.Ala840Ser) c.2557G>T (p.Ala853Ser) c.1295G>T c.2545G>T (p.Ala849Ser) c.436G>T (p.Ala146Ser) n.533G>T n.2158G>T c.1506G>T c.579G>T | |
| 12 | g.6593165C>G | CA383592052 | CHD4 | c.2539G>C (p.Ala847Pro) c.2578G>C (p.Ala860Pro) c.2569G>C (p.Ala857Pro) c.2504G>C c.2518G>C (p.Ala840Pro) c.2557G>C (p.Ala853Pro) c.1295G>C c.2545G>C (p.Ala849Pro) c.436G>C (p.Ala146Pro) n.533G>C n.2158G>C c.1506G>C c.579G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.6593165C>T | CA383592053 | CHD4 | c.2539G>A (p.Ala847Thr) c.2578G>A (p.Ala860Thr) c.2569G>A (p.Ala857Thr) c.2504G>A c.2518G>A (p.Ala840Thr) c.2557G>A (p.Ala853Thr) c.1295G>A c.2545G>A (p.Ala849Thr) c.436G>A (p.Ala146Thr) n.533G>A n.2158G>A c.1506G>A c.579G>A | |
| 12 | g.6593166C>A | CA383592061 | CHD4 | c.2538G>T (p.Met846Ile) c.2577G>T (p.Met859Ile) c.2568G>T (p.Met856Ile) c.2503G>T c.2517G>T (p.Met839Ile) c.2556G>T (p.Met852Ile) c.1294G>T c.2544G>T (p.Met848Ile) c.435G>T (p.Met145Ile) n.532G>T n.2157G>T c.1505G>T c.578G>T | |
| 12 | g.6593166C>G | CA383592057 | CHD4 | c.2538G>C (p.Met846Ile) c.2577G>C (p.Met859Ile) c.2568G>C (p.Met856Ile) c.2503G>C c.2517G>C (p.Met839Ile) c.2556G>C (p.Met852Ile) c.1294G>C c.2544G>C (p.Met848Ile) c.435G>C (p.Met145Ile) n.532G>C n.2157G>C c.1505G>C c.578G>C | |
| 12 | g.6593166C>T | CA383592055 | CHD4 | c.2538G>A (p.Met846Ile) c.2577G>A (p.Met859Ile) c.2568G>A (p.Met856Ile) c.2503G>A c.2517G>A (p.Met839Ile) c.2556G>A (p.Met852Ile) c.1294G>A c.2544G>A (p.Met848Ile) c.435G>A (p.Met145Ile) n.532G>A n.2157G>A c.1505G>A c.578G>A | |
| 12 | g.6593167A>C | CA383592065 | CHD4 | c.2537T>G (p.Met846Arg) c.2576T>G (p.Met859Arg) c.2567T>G (p.Met856Arg) c.2502T>G c.2516T>G (p.Met839Arg) c.2555T>G (p.Met852Arg) c.1293T>G c.2543T>G (p.Met848Arg) c.434T>G (p.Met145Arg) n.531T>G n.2156T>G c.1504T>G c.577T>G | |
| 12 | g.6593167A>G | CA383592067 | CHD4 | c.2537T>C (p.Met846Thr) c.2576T>C (p.Met859Thr) c.2567T>C (p.Met856Thr) c.2502T>C c.2516T>C (p.Met839Thr) c.2555T>C (p.Met852Thr) c.1293T>C c.2543T>C (p.Met848Thr) c.434T>C (p.Met145Thr) n.531T>C n.2156T>C c.1504T>C c.577T>C | |
| 12 | g.6593167A>T | CA383592071 | CHD4 | c.2537T>A (p.Met846Lys) c.2576T>A (p.Met859Lys) c.2567T>A (p.Met856Lys) c.2502T>A c.2516T>A (p.Met839Lys) c.2555T>A (p.Met852Lys) c.1293T>A c.2543T>A (p.Met848Lys) c.434T>A (p.Met145Lys) n.531T>A n.2156T>A c.1504T>A c.577T>A | |
| 12 | g.6593168T>A | CA383592076 | CHD4 | c.2536A>T (p.Met846Leu) c.2575A>T (p.Met859Leu) c.2566A>T (p.Met856Leu) c.2501A>T c.2515A>T (p.Met839Leu) c.2554A>T (p.Met852Leu) c.1292A>T c.2542A>T (p.Met848Leu) c.433A>T (p.Met145Leu) n.530A>T n.2155A>T c.1503A>T c.576A>T | |
| 12 | g.6593168T>C | CA232392916 | CHD4 | c.2536A>G (p.Met846Val) c.2575A>G (p.Met859Val) c.2566A>G (p.Met856Val) c.2501A>G c.2515A>G (p.Met839Val) c.2554A>G (p.Met852Val) c.1292A>G c.2542A>G (p.Met848Val) c.433A>G (p.Met145Val) n.530A>G n.2155A>G c.1503A>G c.576A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593168T>G | CA383592081 | CHD4 | c.2536A>C (p.Met846Leu) c.2575A>C (p.Met859Leu) c.2566A>C (p.Met856Leu) c.2501A>C c.2515A>C (p.Met839Leu) c.2554A>C (p.Met852Leu) c.1292A>C c.2542A>C (p.Met848Leu) c.433A>C (p.Met145Leu) n.530A>C n.2155A>C c.1503A>C c.576A>C | |
| 12 | g.6593168T= | CA2014149228 | CHD4 | c.2536A= (p.Met846=) c.2575A= (p.Met859=) c.2566A= (p.Met856=) c.2501A= c.2515A= (p.Met839=) c.2554A= (p.Met852=) c.1292A= c.2542A= (p.Met848=) c.433A= (p.Met145=) n.530A= n.2155A= c.1503A= c.576A= | |
| 12 | g.6593169G>A | CA478132001 | CHD4 | c.2535C>T (p.Asp845=) c.2574C>T (p.Asp858=) c.2565C>T (p.Asp855=) c.2500C>T c.2514C>T (p.Asp838=) c.2553C>T (p.Asp851=) c.1291C>T c.2541C>T (p.Asp847=) c.432C>T (p.Asp144=) n.529C>T n.2154C>T c.1502C>T c.575C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593169G>C | CA383592088 | CHD4 | c.2535C>G (p.Asp845Glu) c.2574C>G (p.Asp858Glu) c.2565C>G (p.Asp855Glu) c.2500C>G c.2514C>G (p.Asp838Glu) c.2553C>G (p.Asp851Glu) c.1291C>G c.2541C>G (p.Asp847Glu) c.432C>G (p.Asp144Glu) n.529C>G n.2154C>G c.1502C>G c.575C>G | |
| 12 | g.6593169G>T | CA383592091 | CHD4 | c.2535C>A (p.Asp845Glu) c.2574C>A (p.Asp858Glu) c.2565C>A (p.Asp855Glu) c.2500C>A c.2514C>A (p.Asp838Glu) c.2553C>A (p.Asp851Glu) c.1291C>A c.2541C>A (p.Asp847Glu) c.432C>A (p.Asp144Glu) n.529C>A n.2154C>A c.1502C>A c.575C>A | |
| 12 | g.6593170T>A | CA383592095 | CHD4 | c.2534A>T (p.Asp845Val) c.2573A>T (p.Asp858Val) c.2564A>T (p.Asp855Val) c.2499A>T c.2513A>T (p.Asp838Val) c.2552A>T (p.Asp851Val) c.1290A>T c.2540A>T (p.Asp847Val) c.431A>T (p.Asp144Val) n.528A>T n.2153A>T c.1501A>T c.574A>T | |
| 12 | g.6593170T>C | CA383592098 | CHD4 | c.2534A>G (p.Asp845Gly) c.2573A>G (p.Asp858Gly) c.2564A>G (p.Asp855Gly) c.2499A>G c.2513A>G (p.Asp838Gly) c.2552A>G (p.Asp851Gly) c.1290A>G c.2540A>G (p.Asp847Gly) c.431A>G (p.Asp144Gly) n.528A>G n.2153A>G c.1501A>G c.574A>G | |
| 12 | g.6593170T>G | CA383592100 | CHD4 | c.2534A>C (p.Asp845Ala) c.2573A>C (p.Asp858Ala) c.2564A>C (p.Asp855Ala) c.2499A>C c.2513A>C (p.Asp838Ala) c.2552A>C (p.Asp851Ala) c.1290A>C c.2540A>C (p.Asp847Ala) c.431A>C (p.Asp144Ala) n.528A>C n.2153A>C c.1501A>C c.574A>C | |
| 12 | g.6593171C>A | CA383592102 | CHD4 | c.2533G>T (p.Asp845Tyr) c.2572G>T (p.Asp858Tyr) c.2563G>T (p.Asp855Tyr) c.2498G>T c.2512G>T (p.Asp838Tyr) c.2551G>T (p.Asp851Tyr) c.1289G>T c.2539G>T (p.Asp847Tyr) c.430G>T (p.Asp144Tyr) n.527G>T n.2152G>T c.1500G>T c.573G>T | |
| 12 | g.6593171C>G | CA383592103 | CHD4 | c.2533G>C (p.Asp845His) c.2572G>C (p.Asp858His) c.2563G>C (p.Asp855His) c.2498G>C c.2512G>C (p.Asp838His) c.2551G>C (p.Asp851His) c.1289G>C c.2539G>C (p.Asp847His) c.430G>C (p.Asp144His) n.527G>C n.2152G>C c.1500G>C c.573G>C | |
| 12 | g.6593171C>T | CA383592105 | CHD4 | c.2533G>A (p.Asp845Asn) c.2572G>A (p.Asp858Asn) c.2563G>A (p.Asp855Asn) c.2498G>A c.2512G>A (p.Asp838Asn) c.2551G>A (p.Asp851Asn) c.1289G>A c.2539G>A (p.Asp847Asn) c.430G>A (p.Asp144Asn) n.527G>A n.2152G>A c.1500G>A c.573G>A | |
| 12 | g.6593172A>C | CA383592106 | CHD4 | c.2532T>G (p.Ile844Met) c.2571T>G (p.Ile857Met) c.2562T>G (p.Ile854Met) c.2497T>G c.2511T>G (p.Ile837Met) c.2550T>G (p.Ile850Met) c.1288T>G c.2538T>G (p.Ile846Met) c.429T>G (p.Ile143Met) n.526T>G n.2151T>G c.1499T>G c.572T>G | |
| 12 | g.6593172A>G | CA478132002 | CHD4 | c.2532T>C (p.Ile844=) c.2571T>C (p.Ile857=) c.2562T>C (p.Ile854=) c.2497T>C c.2511T>C (p.Ile837=) c.2550T>C (p.Ile850=) c.1288T>C c.2538T>C (p.Ile846=) c.429T>C (p.Ile143=) n.526T>C n.2151T>C c.1499T>C c.572T>C | |
| 12 | g.6593172A>T | CA478132003 | CHD4 | c.2532T>A (p.Ile844=) c.2571T>A (p.Ile857=) c.2562T>A (p.Ile854=) c.2497T>A c.2511T>A (p.Ile837=) c.2550T>A (p.Ile850=) c.1288T>A c.2538T>A (p.Ile846=) c.429T>A (p.Ile143=) n.526T>A n.2151T>A c.1499T>A c.572T>A | |
| 12 | g.6593173A>C | CA383592110 | CHD4 | c.2531T>G (p.Ile844Ser) c.2570T>G (p.Ile857Ser) c.2561T>G (p.Ile854Ser) c.2496T>G c.2510T>G (p.Ile837Ser) c.2549T>G (p.Ile850Ser) c.1287T>G c.2537T>G (p.Ile846Ser) c.428T>G (p.Ile143Ser) n.525T>G n.2150T>G c.1498T>G c.571T>G | |
| 12 | g.6593173A>G | CA383592111 | CHD4 | c.2531T>C (p.Ile844Thr) c.2570T>C (p.Ile857Thr) c.2561T>C (p.Ile854Thr) c.2496T>C c.2510T>C (p.Ile837Thr) c.2549T>C (p.Ile850Thr) c.1287T>C c.2537T>C (p.Ile846Thr) c.428T>C (p.Ile143Thr) n.525T>C n.2150T>C c.1498T>C c.571T>C | gnomAD v4 |
| 12 | g.6593173A>T | CA383592112 | CHD4 | c.2531T>A (p.Ile844Asn) c.2570T>A (p.Ile857Asn) c.2561T>A (p.Ile854Asn) c.2496T>A c.2510T>A (p.Ile837Asn) c.2549T>A (p.Ile850Asn) c.1287T>A c.2537T>A (p.Ile846Asn) c.428T>A (p.Ile143Asn) n.525T>A n.2150T>A c.1498T>A c.571T>A | |
| 12 | g.6593174T>A | CA383592115 | CHD4 | c.2530A>T (p.Ile844Phe) c.2569A>T (p.Ile857Phe) c.2560A>T (p.Ile854Phe) c.2495A>T c.2509A>T (p.Ile837Phe) c.2548A>T (p.Ile850Phe) c.1286A>T c.2536A>T (p.Ile846Phe) c.427A>T (p.Ile143Phe) n.524A>T n.2149A>T c.1497A>T c.570A>T | ClinVar |
| 12 | g.6593174T>C | CA383592118 | CHD4 | c.2530A>G (p.Ile844Val) c.2569A>G (p.Ile857Val) c.2560A>G (p.Ile854Val) c.2495A>G c.2509A>G (p.Ile837Val) c.2548A>G (p.Ile850Val) c.1286A>G c.2536A>G (p.Ile846Val) c.427A>G (p.Ile143Val) n.524A>G n.2149A>G c.1497A>G c.570A>G | |
| 12 | g.6593174T>G | CA383592121 | CHD4 | c.2530A>C (p.Ile844Leu) c.2569A>C (p.Ile857Leu) c.2560A>C (p.Ile854Leu) c.2495A>C c.2509A>C (p.Ile837Leu) c.2548A>C (p.Ile850Leu) c.1286A>C c.2536A>C (p.Ile846Leu) c.427A>C (p.Ile143Leu) n.524A>C n.2149A>C c.1497A>C c.570A>C | |
| 12 | g.6593175G>A | CA478132004 | CHD4 | c.2529C>T (p.Thr843=) c.2568C>T (p.Thr856=) c.2559C>T (p.Thr853=) c.2494C>T c.2508C>T (p.Thr836=) c.2547C>T (p.Thr849=) c.1285C>T c.2535C>T (p.Thr845=) c.426C>T (p.Thr142=) n.523C>T n.2148C>T c.1496C>T c.569C>T | |
| 12 | g.6593175G>C | CA478132005 | CHD4 | c.2529C>G (p.Thr843=) c.2568C>G (p.Thr856=) c.2559C>G (p.Thr853=) c.2494C>G c.2508C>G (p.Thr836=) c.2547C>G (p.Thr849=) c.1285C>G c.2535C>G (p.Thr845=) c.426C>G (p.Thr142=) n.523C>G n.2148C>G c.1496C>G c.569C>G | dbSNP |
| 12 | g.6593175G= | CA2014149230 | CHD4 | c.2529C= (p.Thr843=) c.2568C= (p.Thr856=) c.2559C= (p.Thr853=) c.2494C= c.2508C= (p.Thr836=) c.2547C= (p.Thr849=) c.1285C= c.2535C= (p.Thr845=) c.426C= (p.Thr142=) n.523C= n.2148C= c.1496C= c.569C= | |
| 12 | g.6593175G>T | CA478132006 | CHD4 | c.2529C>A (p.Thr843=) c.2568C>A (p.Thr856=) c.2559C>A (p.Thr853=) c.2494C>A c.2508C>A (p.Thr836=) c.2547C>A (p.Thr849=) c.1285C>A c.2535C>A (p.Thr845=) c.426C>A (p.Thr142=) n.523C>A n.2148C>A c.1496C>A c.569C>A | |
| 12 | g.6593176G>A | CA383592125 | CHD4 | c.2528C>T (p.Thr843Ile) c.2567C>T (p.Thr856Ile) c.2558C>T (p.Thr853Ile) c.2493C>T c.2507C>T (p.Thr836Ile) c.2546C>T (p.Thr849Ile) c.1284C>T c.2534C>T (p.Thr845Ile) c.425C>T (p.Thr142Ile) n.522C>T n.2147C>T c.1495C>T c.568C>T | |
| 12 | g.6593176G>C | CA383592129 | CHD4 | c.2528C>G (p.Thr843Ser) c.2567C>G (p.Thr856Ser) c.2558C>G (p.Thr853Ser) c.2493C>G c.2507C>G (p.Thr836Ser) c.2546C>G (p.Thr849Ser) c.1284C>G c.2534C>G (p.Thr845Ser) c.425C>G (p.Thr142Ser) n.522C>G n.2147C>G c.1495C>G c.568C>G | |
| 12 | g.6593176G>T | CA383592133 | CHD4 | c.2528C>A (p.Thr843Asn) c.2567C>A (p.Thr856Asn) c.2558C>A (p.Thr853Asn) c.2493C>A c.2507C>A (p.Thr836Asn) c.2546C>A (p.Thr849Asn) c.1284C>A c.2534C>A (p.Thr845Asn) c.425C>A (p.Thr142Asn) n.522C>A n.2147C>A c.1495C>A c.568C>A | |
| 12 | g.6593177T>A | CA383592136 | CHD4 | c.2527A>T (p.Thr843Ser) c.2566A>T (p.Thr856Ser) c.2557A>T (p.Thr853Ser) c.2492A>T c.2506A>T (p.Thr836Ser) c.2545A>T (p.Thr849Ser) c.1283A>T c.2533A>T (p.Thr845Ser) c.424A>T (p.Thr142Ser) n.521A>T n.2146A>T c.1494A>T c.567A>T | |
| 12 | g.6593177T>C | CA383592139 | CHD4 | c.2527A>G (p.Thr843Ala) c.2566A>G (p.Thr856Ala) c.2557A>G (p.Thr853Ala) c.2492A>G c.2506A>G (p.Thr836Ala) c.2545A>G (p.Thr849Ala) c.1283A>G c.2533A>G (p.Thr845Ala) c.424A>G (p.Thr142Ala) n.521A>G n.2146A>G c.1494A>G c.567A>G | |
| 12 | g.6593177T>G | CA383592142 | CHD4 | c.2527A>C (p.Thr843Pro) c.2566A>C (p.Thr856Pro) c.2557A>C (p.Thr853Pro) c.2492A>C c.2506A>C (p.Thr836Pro) c.2545A>C (p.Thr849Pro) c.1283A>C c.2533A>C (p.Thr845Pro) c.424A>C (p.Thr142Pro) n.521A>C n.2146A>C c.1494A>C c.567A>C | |
| 12 | g.6593178G>A | CA478132007 | CHD4 | c.2526C>T (p.Ile842=) c.2565C>T (p.Ile855=) c.2556C>T (p.Ile852=) c.2491C>T c.2505C>T (p.Ile835=) c.2544C>T (p.Ile848=) c.1282C>T c.2532C>T (p.Ile844=) c.423C>T (p.Ile141=) n.520C>T n.2145C>T c.1493C>T c.566C>T | gnomAD v4 |
| 12 | g.6593178G>C | CA383592146 | CHD4 | c.2526C>G (p.Ile842Met) c.2565C>G (p.Ile855Met) c.2556C>G (p.Ile852Met) c.2491C>G c.2505C>G (p.Ile835Met) c.2544C>G (p.Ile848Met) c.1282C>G c.2532C>G (p.Ile844Met) c.423C>G (p.Ile141Met) n.520C>G n.2145C>G c.1493C>G c.566C>G | |
| 12 | g.6593178G>T | CA478132008 | CHD4 | c.2526C>A (p.Ile842=) c.2565C>A (p.Ile855=) c.2556C>A (p.Ile852=) c.2491C>A c.2505C>A (p.Ile835=) c.2544C>A (p.Ile848=) c.1282C>A c.2532C>A (p.Ile844=) c.423C>A (p.Ile141=) n.520C>A n.2145C>A c.1493C>A c.566C>A | |
| 12 | g.6593179A>C | CA383592151 | CHD4 | c.2525T>G (p.Ile842Ser) c.2564T>G (p.Ile855Ser) c.2555T>G (p.Ile852Ser) c.2490T>G c.2504T>G (p.Ile835Ser) c.2543T>G (p.Ile848Ser) c.1281T>G c.2531T>G (p.Ile844Ser) c.422T>G (p.Ile141Ser) n.519T>G n.2144T>G c.1492T>G c.565T>G | |
| 12 | g.6593179A>G | CA383592163 | CHD4 | c.2525T>C (p.Ile842Thr) c.2564T>C (p.Ile855Thr) c.2555T>C (p.Ile852Thr) c.2490T>C c.2504T>C (p.Ile835Thr) c.2543T>C (p.Ile848Thr) c.1281T>C c.2531T>C (p.Ile844Thr) c.422T>C (p.Ile141Thr) n.519T>C n.2144T>C c.1492T>C c.565T>C | |
| 12 | g.6593179A>T | CA383592159 | CHD4 | c.2525T>A (p.Ile842Asn) c.2564T>A (p.Ile855Asn) c.2555T>A (p.Ile852Asn) c.2490T>A c.2504T>A (p.Ile835Asn) c.2543T>A (p.Ile848Asn) c.1281T>A c.2531T>A (p.Ile844Asn) c.422T>A (p.Ile141Asn) n.519T>A n.2144T>A c.1492T>A c.565T>A | |
| 12 | g.6593180T>A | CA383592166 | CHD4 | c.2524A>T (p.Ile842Phe) c.2563A>T (p.Ile855Phe) c.2554A>T (p.Ile852Phe) c.2489A>T c.2503A>T (p.Ile835Phe) c.2542A>T (p.Ile848Phe) c.1280A>T c.2530A>T (p.Ile844Phe) c.421A>T (p.Ile141Phe) n.518A>T n.2143A>T c.1491A>T c.564A>T | |
| 12 | g.6593180T>C | CA383592173 | CHD4 | c.2524A>G (p.Ile842Val) c.2563A>G (p.Ile855Val) c.2554A>G (p.Ile852Val) c.2489A>G c.2503A>G (p.Ile835Val) c.2542A>G (p.Ile848Val) c.1280A>G c.2530A>G (p.Ile844Val) c.421A>G (p.Ile141Val) n.518A>G n.2143A>G c.1491A>G c.564A>G | gnomAD v4 |
| 12 | g.6593180T>G | CA383592169 | CHD4 | c.2524A>C (p.Ile842Leu) c.2563A>C (p.Ile855Leu) c.2554A>C (p.Ile852Leu) c.2489A>C c.2503A>C (p.Ile835Leu) c.2542A>C (p.Ile848Leu) c.1280A>C c.2530A>C (p.Ile844Leu) c.421A>C (p.Ile141Leu) n.518A>C n.2143A>C c.1491A>C c.564A>C | |
| 12 | g.6593181C>A | CA383592177 | CHD4 | c.2523G>T (p.Leu841Phe) c.2562G>T (p.Leu854Phe) c.2553G>T (p.Leu851Phe) c.2488G>T c.2502G>T (p.Leu834Phe) c.2541G>T (p.Leu847Phe) c.1279G>T c.2529G>T (p.Leu843Phe) c.420G>T (p.Leu140Phe) n.517G>T n.2142G>T c.1490G>T c.563G>T | |
| 12 | g.6593181C= | CA2014149231 | CHD4 | c.2523G= (p.Leu841=) c.2562G= (p.Leu854=) c.2553G= (p.Leu851=) c.2488G= c.2502G= (p.Leu834=) c.2541G= (p.Leu847=) c.1279G= c.2529G= (p.Leu843=) c.420G= (p.Leu140=) n.517G= n.2142G= c.1490G= c.563G= | |
| 12 | g.6593181C>G | CA383592181 | CHD4 | c.2523G>C (p.Leu841Phe) c.2562G>C (p.Leu854Phe) c.2553G>C (p.Leu851Phe) c.2488G>C c.2502G>C (p.Leu834Phe) c.2541G>C (p.Leu847Phe) c.1279G>C c.2529G>C (p.Leu843Phe) c.420G>C (p.Leu140Phe) n.517G>C n.2142G>C c.1490G>C c.563G>C | |
| 12 | g.6593181C>T | CA6411941 | CHD4 | c.2523G>A (p.Leu841=) c.2562G>A (p.Leu854=) c.2553G>A (p.Leu851=) c.2488G>A c.2502G>A (p.Leu834=) c.2541G>A (p.Leu847=) c.1279G>A c.2529G>A (p.Leu843=) c.420G>A (p.Leu140=) n.517G>A n.2142G>A c.1490G>A c.563G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593182A>C | CA383592183 | CHD4 | c.2522T>G (p.Leu841Trp) c.2561T>G (p.Leu854Trp) c.2552T>G (p.Leu851Trp) c.2487T>G c.2501T>G (p.Leu834Trp) c.2540T>G (p.Leu847Trp) c.1278T>G c.2528T>G (p.Leu843Trp) c.419T>G (p.Leu140Trp) n.516T>G n.2141T>G c.1489T>G c.562T>G | |
| 12 | g.6593182A>G | CA383592186 | CHD4 | c.2522T>C (p.Leu841Ser) c.2561T>C (p.Leu854Ser) c.2552T>C (p.Leu851Ser) c.2487T>C c.2501T>C (p.Leu834Ser) c.2540T>C (p.Leu847Ser) c.1278T>C c.2528T>C (p.Leu843Ser) c.419T>C (p.Leu140Ser) n.516T>C n.2141T>C c.1489T>C c.562T>C | gnomAD v4 |
| 12 | g.6593182A>T | CA383592195 | CHD4 | c.2522T>A (p.Leu841Ter) c.2561T>A (p.Leu854Ter) c.2552T>A (p.Leu851Ter) c.2487T>A c.2501T>A (p.Leu834Ter) c.2540T>A (p.Leu847Ter) c.1278T>A c.2528T>A (p.Leu843Ter) c.419T>A (p.Leu140Ter) n.516T>A n.2141T>A c.1489T>A c.562T>A | |
| 12 | g.6593183A= | CA2014149233 | CHD4 | c.2521T= (p.Leu841=) c.2560T= (p.Leu854=) c.2551T= (p.Leu851=) c.2486T= c.2500T= (p.Leu834=) c.2539T= (p.Leu847=) c.1277T= c.2527T= (p.Leu843=) c.418T= (p.Leu140=) n.515T= n.2140T= c.1488T= c.561T= | |
| 12 | g.6593183A>C | CA383592198 | CHD4 | c.2521T>G (p.Leu841Val) c.2560T>G (p.Leu854Val) c.2551T>G (p.Leu851Val) c.2486T>G c.2500T>G (p.Leu834Val) c.2539T>G (p.Leu847Val) c.1277T>G c.2527T>G (p.Leu843Val) c.418T>G (p.Leu140Val) n.515T>G n.2140T>G c.1488T>G c.561T>G | |
| 12 | g.6593183A>G | CA6411942 | CHD4 | c.2521T>C (p.Leu841=) c.2560T>C (p.Leu854=) c.2551T>C (p.Leu851=) c.2486T>C c.2500T>C (p.Leu834=) c.2539T>C (p.Leu847=) c.1277T>C c.2527T>C (p.Leu843=) c.418T>C (p.Leu140=) n.515T>C n.2140T>C c.1488T>C c.561T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593183A>T | CA383592199 | CHD4 | c.2521T>A (p.Leu841Met) c.2560T>A (p.Leu854Met) c.2551T>A (p.Leu851Met) c.2486T>A c.2500T>A (p.Leu834Met) c.2539T>A (p.Leu847Met) c.1277T>A c.2527T>A (p.Leu843Met) c.418T>A (p.Leu140Met) n.515T>A n.2140T>A c.1488T>A c.561T>A | |
| 12 | g.6593184T>A | CA383592201 | CHD4 | c.2520A>T (p.Glu840Asp) c.2559A>T (p.Glu853Asp) c.2550A>T (p.Glu850Asp) c.2485A>T c.2499A>T (p.Glu833Asp) c.2538A>T (p.Glu846Asp) c.1276A>T c.2526A>T (p.Glu842Asp) c.417A>T (p.Glu139Asp) n.514A>T n.2139A>T c.1487A>T c.560A>T | |
| 12 | g.6593184T>C | CA478132010 | CHD4 | c.2520A>G (p.Glu840=) c.2559A>G (p.Glu853=) c.2550A>G (p.Glu850=) c.2485A>G c.2499A>G (p.Glu833=) c.2538A>G (p.Glu846=) c.1276A>G c.2526A>G (p.Glu842=) c.417A>G (p.Glu139=) n.514A>G n.2139A>G c.1487A>G c.560A>G | |
| 12 | g.6593184T>G | CA383592203 | CHD4 | c.2520A>C (p.Glu840Asp) c.2559A>C (p.Glu853Asp) c.2550A>C (p.Glu850Asp) c.2485A>C c.2499A>C (p.Glu833Asp) c.2538A>C (p.Glu846Asp) c.1276A>C c.2526A>C (p.Glu842Asp) c.417A>C (p.Glu139Asp) n.514A>C n.2139A>C c.1487A>C c.560A>C | |
| 12 | g.6593185T>A | CA383592207 | CHD4 | c.2519A>T (p.Glu840Val) c.2558A>T (p.Glu853Val) c.2549A>T (p.Glu850Val) c.2484A>T c.2498A>T (p.Glu833Val) c.2537A>T (p.Glu846Val) c.1275A>T c.2525A>T (p.Glu842Val) c.416A>T (p.Glu139Val) n.513A>T n.2138A>T c.1486A>T c.559A>T | |
| 12 | g.6593185T>C | CA383592209 | CHD4 | c.2519A>G (p.Glu840Gly) c.2558A>G (p.Glu853Gly) c.2549A>G (p.Glu850Gly) c.2484A>G c.2498A>G (p.Glu833Gly) c.2537A>G (p.Glu846Gly) c.1275A>G c.2525A>G (p.Glu842Gly) c.416A>G (p.Glu139Gly) n.513A>G n.2138A>G c.1486A>G c.559A>G | |
| 12 | g.6593185T>G | CA383592214 | CHD4 | c.2519A>C (p.Glu840Ala) c.2558A>C (p.Glu853Ala) c.2549A>C (p.Glu850Ala) c.2484A>C c.2498A>C (p.Glu833Ala) c.2537A>C (p.Glu846Ala) c.1275A>C c.2525A>C (p.Glu842Ala) c.416A>C (p.Glu139Ala) n.513A>C n.2138A>C c.1486A>C c.559A>C | |
| 12 | g.6593186C>A | CA383592224 | CHD4 | c.2518G>T (p.Glu840Ter) c.2557G>T (p.Glu853Ter) c.2548G>T (p.Glu850Ter) c.2483G>T c.2497G>T (p.Glu833Ter) c.2536G>T (p.Glu846Ter) c.1274G>T c.2524G>T (p.Glu842Ter) c.415G>T (p.Glu139Ter) n.512G>T n.2137G>T c.1485G>T c.558G>T | |
| 12 | g.6593186C>G | CA383592221 | CHD4 | c.2518G>C (p.Glu840Gln) c.2557G>C (p.Glu853Gln) c.2548G>C (p.Glu850Gln) c.2483G>C c.2497G>C (p.Glu833Gln) c.2536G>C (p.Glu846Gln) c.1274G>C c.2524G>C (p.Glu842Gln) c.415G>C (p.Glu139Gln) n.512G>C n.2137G>C c.1485G>C c.558G>C | |
| 12 | g.6593186C>T | CA383592218 | CHD4 | c.2518G>A (p.Glu840Lys) c.2557G>A (p.Glu853Lys) c.2548G>A (p.Glu850Lys) c.2483G>A c.2497G>A (p.Glu833Lys) c.2536G>A (p.Glu846Lys) c.1274G>A c.2524G>A (p.Glu842Lys) c.415G>A (p.Glu139Lys) n.512G>A n.2137G>A c.1485G>A c.558G>A | |
| 12 | g.6593187A>C | CA383592228 | CHD4 | c.2517T>G (p.Tyr839Ter) c.2556T>G (p.Tyr852Ter) c.2547T>G (p.Tyr849Ter) c.2482T>G c.2496T>G (p.Tyr832Ter) c.2535T>G (p.Tyr845Ter) c.1273T>G c.2523T>G (p.Tyr841Ter) c.414T>G (p.Tyr138Ter) n.511T>G n.2136T>G c.1484T>G c.557T>G | |
| 12 | g.6593187A>G | CA478132014 | CHD4 | c.2517T>C (p.Tyr839=) c.2556T>C (p.Tyr852=) c.2547T>C (p.Tyr849=) c.2482T>C c.2496T>C (p.Tyr832=) c.2535T>C (p.Tyr845=) c.1273T>C c.2523T>C (p.Tyr841=) c.414T>C (p.Tyr138=) n.511T>C n.2136T>C c.1484T>C c.557T>C | |
| 12 | g.6593187A>T | CA383592231 | CHD4 | c.2517T>A (p.Tyr839Ter) c.2556T>A (p.Tyr852Ter) c.2547T>A (p.Tyr849Ter) c.2482T>A c.2496T>A (p.Tyr832Ter) c.2535T>A (p.Tyr845Ter) c.1273T>A c.2523T>A (p.Tyr841Ter) c.414T>A (p.Tyr138Ter) n.511T>A n.2136T>A c.1484T>A c.557T>A | |
| 12 | g.6593188T>A | CA383592234 | CHD4 | c.2516A>T (p.Tyr839Phe) c.2555A>T (p.Tyr852Phe) c.2546A>T (p.Tyr849Phe) c.2481A>T c.2495A>T (p.Tyr832Phe) c.2534A>T (p.Tyr845Phe) c.1272A>T c.2522A>T (p.Tyr841Phe) c.413A>T (p.Tyr138Phe) n.510A>T n.2135A>T c.1483A>T c.556A>T | |
| 12 | g.6593188T>C | CA383592238 | CHD4 | c.2516A>G (p.Tyr839Cys) c.2555A>G (p.Tyr852Cys) c.2546A>G (p.Tyr849Cys) c.2481A>G c.2495A>G (p.Tyr832Cys) c.2534A>G (p.Tyr845Cys) c.1272A>G c.2522A>G (p.Tyr841Cys) c.413A>G (p.Tyr138Cys) n.510A>G n.2135A>G c.1483A>G c.556A>G | |
| 12 | g.6593188T>G | CA383592240 | CHD4 | c.2516A>C (p.Tyr839Ser) c.2555A>C (p.Tyr852Ser) c.2546A>C (p.Tyr849Ser) c.2481A>C c.2495A>C (p.Tyr832Ser) c.2534A>C (p.Tyr845Ser) c.1272A>C c.2522A>C (p.Tyr841Ser) c.413A>C (p.Tyr138Ser) n.510A>C n.2135A>C c.1483A>C c.556A>C | dbSNP |
| 12 | g.6593189A>C | CA383592244 | CHD4 | c.2515T>G (p.Tyr839Asp) c.2554T>G (p.Tyr852Asp) c.2545T>G (p.Tyr849Asp) c.2480T>G c.2494T>G (p.Tyr832Asp) c.2533T>G (p.Tyr845Asp) c.1271T>G c.2521T>G (p.Tyr841Asp) c.412T>G (p.Tyr138Asp) n.509T>G n.2134T>G c.1482T>G c.555T>G | |
| 12 | g.6593189A>G | CA383592246 | CHD4 | c.2515T>C (p.Tyr839His) c.2554T>C (p.Tyr852His) c.2545T>C (p.Tyr849His) c.2480T>C c.2494T>C (p.Tyr832His) c.2533T>C (p.Tyr845His) c.1271T>C c.2521T>C (p.Tyr841His) c.412T>C (p.Tyr138His) n.509T>C n.2134T>C c.1482T>C c.555T>C | COSMIC COSMIC COSMIC |
| 12 | g.6593189A>T | CA383592247 | CHD4 | c.2515T>A (p.Tyr839Asn) c.2554T>A (p.Tyr852Asn) c.2545T>A (p.Tyr849Asn) c.2480T>A c.2494T>A (p.Tyr832Asn) c.2533T>A (p.Tyr845Asn) c.1271T>A c.2521T>A (p.Tyr841Asn) c.412T>A (p.Tyr138Asn) n.509T>A n.2134T>A c.1482T>A c.555T>A | |
| 12 | g.6593190G>A | CA478132016 | CHD4 | c.2514C>T (p.Ser838=) c.2553C>T (p.Ser851=) c.2544C>T (p.Ser848=) c.2479C>T c.2493C>T (p.Ser831=) c.2532C>T (p.Ser844=) c.1270C>T c.2520C>T (p.Ser840=) c.411C>T (p.Ser137=) n.508C>T n.2133C>T c.1481C>T c.554C>T | |
| 12 | g.6593190G>C | CA478132017 | CHD4 | c.2514C>G (p.Ser838=) c.2553C>G (p.Ser851=) c.2544C>G (p.Ser848=) c.2479C>G c.2493C>G (p.Ser831=) c.2532C>G (p.Ser844=) c.1270C>G c.2520C>G (p.Ser840=) c.411C>G (p.Ser137=) n.508C>G n.2133C>G c.1481C>G c.554C>G | |
| 12 | g.6593190G>T | CA478132018 | CHD4 | c.2514C>A (p.Ser838=) c.2553C>A (p.Ser851=) c.2544C>A (p.Ser848=) c.2479C>A c.2493C>A (p.Ser831=) c.2532C>A (p.Ser844=) c.1270C>A c.2520C>A (p.Ser840=) c.411C>A (p.Ser137=) n.508C>A n.2133C>A c.1481C>A c.554C>A | |
| 12 | g.6593191G>A | CA383592248 | CHD4 | c.2513C>T (p.Ser838Phe) c.2552C>T (p.Ser851Phe) c.2543C>T (p.Ser848Phe) c.2478C>T c.2492C>T (p.Ser831Phe) c.2531C>T (p.Ser844Phe) c.1269C>T c.2519C>T (p.Ser840Phe) c.410C>T (p.Ser137Phe) n.507C>T n.2132C>T c.1480C>T c.553C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593191G>C | CA383592250 | CHD4 | c.2513C>G (p.Ser838Cys) c.2552C>G (p.Ser851Cys) c.2543C>G (p.Ser848Cys) c.2478C>G c.2492C>G (p.Ser831Cys) c.2531C>G (p.Ser844Cys) c.1269C>G c.2519C>G (p.Ser840Cys) c.410C>G (p.Ser137Cys) n.507C>G n.2132C>G c.1480C>G c.553C>G | |
| 12 | g.6593191G= | CA2014149238 | CHD4 | c.2513C= (p.Ser838=) c.2552C= (p.Ser851=) c.2543C= (p.Ser848=) c.2478C= c.2492C= (p.Ser831=) c.2531C= (p.Ser844=) c.1269C= c.2519C= (p.Ser840=) c.410C= (p.Ser137=) n.507C= n.2132C= c.1480C= c.553C= | |
| 12 | g.6593191G>T | CA10588997 | CHD4 | c.2513C>A (p.Ser838Tyr) c.2552C>A (p.Ser851Tyr) c.2543C>A (p.Ser848Tyr) c.2478C>A c.2492C>A (p.Ser831Tyr) c.2531C>A (p.Ser844Tyr) c.1269C>A c.2519C>A (p.Ser840Tyr) c.410C>A (p.Ser137Tyr) n.507C>A n.2132C>A c.1480C>A c.553C>A | ClinVar dbSNP |
| 12 | g.6593192A>C | CA383592262 | CHD4 | c.2512T>G (p.Ser838Ala) c.2551T>G (p.Ser851Ala) c.2542T>G (p.Ser848Ala) c.2477T>G c.2491T>G (p.Ser831Ala) c.2530T>G (p.Ser844Ala) c.1268T>G c.2518T>G (p.Ser840Ala) c.409T>G (p.Ser137Ala) n.506T>G n.2131T>G c.1479T>G c.552T>G | |
| 12 | g.6593192A>G | CA383592261 | CHD4 | c.2512T>C (p.Ser838Pro) c.2551T>C (p.Ser851Pro) c.2542T>C (p.Ser848Pro) c.2477T>C c.2491T>C (p.Ser831Pro) c.2530T>C (p.Ser844Pro) c.1268T>C c.2518T>C (p.Ser840Pro) c.409T>C (p.Ser137Pro) n.506T>C n.2131T>C c.1479T>C c.552T>C | |
| 12 | g.6593192A>T | CA383592260 | CHD4 | c.2512T>A (p.Ser838Thr) c.2551T>A (p.Ser851Thr) c.2542T>A (p.Ser848Thr) c.2477T>A c.2491T>A (p.Ser831Thr) c.2530T>A (p.Ser844Thr) c.1268T>A c.2518T>A (p.Ser840Thr) c.409T>A (p.Ser137Thr) n.506T>A n.2131T>A c.1479T>A c.552T>A | |
| 12 | g.6593193T>A | CA478132022 | CHD4 | c.2511A>T (p.Thr837=) c.2550A>T (p.Thr850=) c.2541A>T (p.Thr847=) c.2476A>T c.2490A>T (p.Thr830=) c.2529A>T (p.Thr843=) c.1267A>T c.2517A>T (p.Thr839=) c.408A>T (p.Thr136=) n.505A>T n.2130A>T c.1478A>T c.551A>T | |
| 12 | g.6593193T>C | CA478132020 | CHD4 | c.2511A>G (p.Thr837=) c.2550A>G (p.Thr850=) c.2541A>G (p.Thr847=) c.2476A>G c.2490A>G (p.Thr830=) c.2529A>G (p.Thr843=) c.1267A>G c.2517A>G (p.Thr839=) c.408A>G (p.Thr136=) n.505A>G n.2130A>G c.1478A>G c.551A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593193T>G | CA478132021 | CHD4 | c.2511A>C (p.Thr837=) c.2550A>C (p.Thr850=) c.2541A>C (p.Thr847=) c.2476A>C c.2490A>C (p.Thr830=) c.2529A>C (p.Thr843=) c.1267A>C c.2517A>C (p.Thr839=) c.408A>C (p.Thr136=) n.505A>C n.2130A>C c.1478A>C c.551A>C | |
| 12 | g.6593193T= | CA2014149242 | CHD4 | c.2511A= (p.Thr837=) c.2550A= (p.Thr850=) c.2541A= (p.Thr847=) c.2476A= c.2490A= (p.Thr830=) c.2529A= (p.Thr843=) c.1267A= c.2517A= (p.Thr839=) c.408A= (p.Thr136=) n.505A= n.2130A= c.1478A= c.551A= | |
| 12 | g.6593194G>A | CA383592264 | CHD4 | c.2510C>T (p.Thr837Ile) c.2549C>T (p.Thr850Ile) c.2540C>T (p.Thr847Ile) c.2475C>T c.2489C>T (p.Thr830Ile) c.2528C>T (p.Thr843Ile) c.1266C>T c.2516C>T (p.Thr839Ile) c.407C>T (p.Thr136Ile) n.504C>T n.2129C>T c.1477C>T c.550C>T | |
| 12 | g.6593194G>C | CA383592266 | CHD4 | c.2510C>G (p.Thr837Arg) c.2549C>G (p.Thr850Arg) c.2540C>G (p.Thr847Arg) c.2475C>G c.2489C>G (p.Thr830Arg) c.2528C>G (p.Thr843Arg) c.1266C>G c.2516C>G (p.Thr839Arg) c.407C>G (p.Thr136Arg) n.504C>G n.2129C>G c.1477C>G c.550C>G | |
| 12 | g.6593194G>T | CA383592270 | CHD4 | c.2510C>A (p.Thr837Lys) c.2549C>A (p.Thr850Lys) c.2540C>A (p.Thr847Lys) c.2475C>A c.2489C>A (p.Thr830Lys) c.2528C>A (p.Thr843Lys) c.1266C>A c.2516C>A (p.Thr839Lys) c.407C>A (p.Thr136Lys) n.504C>A n.2129C>A c.1477C>A c.550C>A | |
| 12 | g.6593195T>A | CA383592273 | CHD4 | c.2509A>T (p.Thr837Ser) c.2548A>T (p.Thr850Ser) c.2539A>T (p.Thr847Ser) c.2474A>T c.2488A>T (p.Thr830Ser) c.2527A>T (p.Thr843Ser) c.1265A>T c.2515A>T (p.Thr839Ser) c.406A>T (p.Thr136Ser) n.503A>T n.2128A>T c.1476A>T c.549A>T | |
| 12 | g.6593195T>C | CA383592276 | CHD4 | c.2509A>G (p.Thr837Ala) c.2548A>G (p.Thr850Ala) c.2539A>G (p.Thr847Ala) c.2474A>G c.2488A>G (p.Thr830Ala) c.2527A>G (p.Thr843Ala) c.1265A>G c.2515A>G (p.Thr839Ala) c.406A>G (p.Thr136Ala) n.503A>G n.2128A>G c.1476A>G c.549A>G | |
| 12 | g.6593195T>G | CA383592284 | CHD4 | c.2509A>C (p.Thr837Pro) c.2548A>C (p.Thr850Pro) c.2539A>C (p.Thr847Pro) c.2474A>C c.2488A>C (p.Thr830Pro) c.2527A>C (p.Thr843Pro) c.1265A>C c.2515A>C (p.Thr839Pro) c.406A>C (p.Thr136Pro) n.503A>C n.2128A>C c.1476A>C c.549A>C | |
| 12 | g.6593196del | CA2617296587 | CHD4 | c.2508del (p.Thr837HisfsTer5) c.2547del (p.Thr850HisfsTer5) c.2538del (p.Thr847HisfsTer5) c.2473del c.2487del (p.Thr830HisfsTer5) c.2526del (p.Thr843HisfsTer5) c.1264del c.2514del (p.Thr839HisfsTer5) c.405del (p.Thr136HisfsTer5) n.502del n.2127del c.1475del c.548del | gnomAD v4 |
| 12 | g.6593196C>A | CA478132024 | CHD4 | c.2508G>T (p.Leu836=) c.2547G>T (p.Leu849=) c.2538G>T (p.Leu846=) c.2473G>T c.2487G>T (p.Leu829=) c.2526G>T (p.Leu842=) c.1264G>T c.2514G>T (p.Leu838=) c.405G>T (p.Leu135=) n.502G>T n.2127G>T c.1475G>T c.548G>T | |
| 12 | g.6593196C>G | CA478132025 | CHD4 | c.2508G>C (p.Leu836=) c.2547G>C (p.Leu849=) c.2538G>C (p.Leu846=) c.2473G>C c.2487G>C (p.Leu829=) c.2526G>C (p.Leu842=) c.1264G>C c.2514G>C (p.Leu838=) c.405G>C (p.Leu135=) n.502G>C n.2127G>C c.1475G>C c.548G>C | |
| 12 | g.6593196C>T | CA478132026 | CHD4 | c.2508G>A (p.Leu836=) c.2547G>A (p.Leu849=) c.2538G>A (p.Leu846=) c.2473G>A c.2487G>A (p.Leu829=) c.2526G>A (p.Leu842=) c.1264G>A c.2514G>A (p.Leu838=) c.405G>A (p.Leu135=) n.502G>A n.2127G>A c.1475G>A c.548G>A | |
| 12 | g.6593197A>C | CA383592288 | CHD4 | c.2507T>G (p.Leu836Arg) c.2546T>G (p.Leu849Arg) c.2537T>G (p.Leu846Arg) c.2472T>G c.2486T>G (p.Leu829Arg) c.2525T>G (p.Leu842Arg) c.1263T>G c.2513T>G (p.Leu838Arg) c.404T>G (p.Leu135Arg) n.501T>G n.2126T>G c.1474T>G c.547T>G | |
| 12 | g.6593197A>G | CA383592290 | CHD4 | c.2507T>C (p.Leu836Pro) c.2546T>C (p.Leu849Pro) c.2537T>C (p.Leu846Pro) c.2472T>C c.2486T>C (p.Leu829Pro) c.2525T>C (p.Leu842Pro) c.1263T>C c.2513T>C (p.Leu838Pro) c.404T>C (p.Leu135Pro) n.501T>C n.2126T>C c.1474T>C c.547T>C | |
| 12 | g.6593197A>T | CA383592294 | CHD4 | c.2507T>A (p.Leu836Gln) c.2546T>A (p.Leu849Gln) c.2537T>A (p.Leu846Gln) c.2472T>A c.2486T>A (p.Leu829Gln) c.2525T>A (p.Leu842Gln) c.1263T>A c.2513T>A (p.Leu838Gln) c.404T>A (p.Leu135Gln) n.501T>A n.2126T>A c.1474T>A c.547T>A | |
| 12 | g.6593198G>A | CA478132030 | CHD4 | c.2506C>T (p.Leu836=) c.2545C>T (p.Leu849=) c.2536C>T (p.Leu846=) c.2471C>T c.2485C>T (p.Leu829=) c.2524C>T (p.Leu842=) c.1262C>T c.2512C>T (p.Leu838=) c.403C>T (p.Leu135=) n.500C>T n.2125C>T c.1473C>T c.546C>T | |
| 12 | g.6593198G>C | CA383592296 | CHD4 | c.2506C>G (p.Leu836Val) c.2545C>G (p.Leu849Val) c.2536C>G (p.Leu846Val) c.2471C>G c.2485C>G (p.Leu829Val) c.2524C>G (p.Leu842Val) c.1262C>G c.2512C>G (p.Leu838Val) c.403C>G (p.Leu135Val) n.500C>G n.2125C>G c.1473C>G c.546C>G | |
| 12 | g.6593198G>T | CA383592299 | CHD4 | c.2506C>A (p.Leu836Met) c.2545C>A (p.Leu849Met) c.2536C>A (p.Leu846Met) c.2471C>A c.2485C>A (p.Leu829Met) c.2524C>A (p.Leu842Met) c.1262C>A c.2512C>A (p.Leu838Met) c.403C>A (p.Leu135Met) n.500C>A n.2125C>A c.1473C>A c.546C>A | |
| 12 | g.6593199C>A | CA478132031 | CHD4 | c.2505G>T (p.Leu835=) c.2544G>T (p.Leu848=) c.2535G>T (p.Leu845=) c.2470G>T c.2484G>T (p.Leu828=) c.2523G>T (p.Leu841=) c.1261G>T c.2511G>T (p.Leu837=) c.402G>T (p.Leu134=) n.499G>T n.2124G>T c.1472G>T c.545G>T | |
| 12 | g.6593199C>G | CA478132032 | CHD4 | c.2505G>C (p.Leu835=) c.2544G>C (p.Leu848=) c.2535G>C (p.Leu845=) c.2470G>C c.2484G>C (p.Leu828=) c.2523G>C (p.Leu841=) c.1261G>C c.2511G>C (p.Leu837=) c.402G>C (p.Leu134=) n.499G>C n.2124G>C c.1472G>C c.545G>C | |
| 12 | g.6593199C>T | CA478132033 | CHD4 | c.2505G>A (p.Leu835=) c.2544G>A (p.Leu848=) c.2535G>A (p.Leu845=) c.2470G>A c.2484G>A (p.Leu828=) c.2523G>A (p.Leu841=) c.1261G>A c.2511G>A (p.Leu837=) c.402G>A (p.Leu134=) n.499G>A n.2124G>A c.1472G>A c.545G>A | |
| 12 | g.6593200A>C | CA383592304 | CHD4 | c.2504T>G (p.Leu835Arg) c.2543T>G (p.Leu848Arg) c.2534T>G (p.Leu845Arg) c.2469T>G c.2483T>G (p.Leu828Arg) c.2522T>G (p.Leu841Arg) c.1260T>G c.2510T>G (p.Leu837Arg) c.401T>G (p.Leu134Arg) n.498T>G n.2123T>G c.1471T>G c.544T>G | |
| 12 | g.6593200A>G | CA383592306 | CHD4 | c.2504T>C (p.Leu835Pro) c.2543T>C (p.Leu848Pro) c.2534T>C (p.Leu845Pro) c.2469T>C c.2483T>C (p.Leu828Pro) c.2522T>C (p.Leu841Pro) c.1260T>C c.2510T>C (p.Leu837Pro) c.401T>C (p.Leu134Pro) n.498T>C n.2123T>C c.1471T>C c.544T>C | |
| 12 | g.6593200A>T | CA383592310 | CHD4 | c.2504T>A (p.Leu835Gln) c.2543T>A (p.Leu848Gln) c.2534T>A (p.Leu845Gln) c.2469T>A c.2483T>A (p.Leu828Gln) c.2522T>A (p.Leu841Gln) c.1260T>A c.2510T>A (p.Leu837Gln) c.401T>A (p.Leu134Gln) n.498T>A n.2123T>A c.1471T>A c.544T>A | |
| 12 | g.6593201G>A | CA478132036 | CHD4 | c.2503C>T (p.Leu835=) c.2542C>T (p.Leu848=) c.2533C>T (p.Leu845=) c.2468C>T c.2482C>T (p.Leu828=) c.2521C>T (p.Leu841=) c.1259C>T c.2509C>T (p.Leu837=) c.400C>T (p.Leu134=) n.497C>T n.2122C>T c.1470C>T c.543C>T | |
| 12 | g.6593201G>C | CA383592314 | CHD4 | c.2503C>G (p.Leu835Val) c.2542C>G (p.Leu848Val) c.2533C>G (p.Leu845Val) c.2468C>G c.2482C>G (p.Leu828Val) c.2521C>G (p.Leu841Val) c.1259C>G c.2509C>G (p.Leu837Val) c.400C>G (p.Leu134Val) n.497C>G n.2122C>G c.1470C>G c.543C>G | |
| 12 | g.6593201G>T | CA383592330 | CHD4 | c.2503C>A (p.Leu835Met) c.2542C>A (p.Leu848Met) c.2533C>A (p.Leu845Met) c.2468C>A c.2482C>A (p.Leu828Met) c.2521C>A (p.Leu841Met) c.1259C>A c.2509C>A (p.Leu837Met) c.400C>A (p.Leu134Met) n.497C>A n.2122C>A c.1470C>A c.543C>A | |
| 12 | g.6593202C>A | CA478132038 | CHD4 | c.2502G>T (p.Val834=) c.2541G>T (p.Val847=) c.2532G>T (p.Val844=) c.2467G>T c.2481G>T (p.Val827=) c.2520G>T (p.Val840=) c.1258G>T c.2508G>T (p.Val836=) c.399G>T (p.Val133=) n.496G>T n.2121G>T c.1469G>T c.542G>T | |
| 12 | g.6593202C>G | CA478132039 | CHD4 | c.2502G>C (p.Val834=) c.2541G>C (p.Val847=) c.2532G>C (p.Val844=) c.2467G>C c.2481G>C (p.Val827=) c.2520G>C (p.Val840=) c.1258G>C c.2508G>C (p.Val836=) c.399G>C (p.Val133=) n.496G>C n.2121G>C c.1469G>C c.542G>C | |
| 12 | g.6593202C>T | CA478132040 | CHD4 | c.2502G>A (p.Val834=) c.2541G>A (p.Val847=) c.2532G>A (p.Val844=) c.2467G>A c.2481G>A (p.Val827=) c.2520G>A (p.Val840=) c.1258G>A c.2508G>A (p.Val836=) c.399G>A (p.Val133=) n.496G>A n.2121G>A c.1469G>A c.542G>A | |
| 12 | g.6593203A>C | CA383592334 | CHD4 | c.2501T>G (p.Val834Gly) c.2540T>G (p.Val847Gly) c.2531T>G (p.Val844Gly) c.2466T>G c.2480T>G (p.Val827Gly) c.2519T>G (p.Val840Gly) c.1257T>G c.2507T>G (p.Val836Gly) c.398T>G (p.Val133Gly) n.495T>G n.2120T>G c.1468T>G c.541T>G | |
| 12 | g.6593203A>G | CA383592337 | CHD4 | c.2501T>C (p.Val834Ala) c.2540T>C (p.Val847Ala) c.2531T>C (p.Val844Ala) c.2466T>C c.2480T>C (p.Val827Ala) c.2519T>C (p.Val840Ala) c.1257T>C c.2507T>C (p.Val836Ala) c.398T>C (p.Val133Ala) n.495T>C n.2120T>C c.1468T>C c.541T>C | |
| 12 | g.6593203A>T | CA383592339 | CHD4 | c.2501T>A (p.Val834Glu) c.2540T>A (p.Val847Glu) c.2531T>A (p.Val844Glu) c.2466T>A c.2480T>A (p.Val827Glu) c.2519T>A (p.Val840Glu) c.1257T>A c.2507T>A (p.Val836Glu) c.398T>A (p.Val133Glu) n.495T>A n.2120T>A c.1468T>A c.541T>A | |
| 12 | g.6593204C>A | CA383592341 | CHD4 | c.2500G>T (p.Val834Leu) c.2539G>T (p.Val847Leu) c.2530G>T (p.Val844Leu) c.2465G>T c.2479G>T (p.Val827Leu) c.2518G>T (p.Val840Leu) c.1256G>T c.2506G>T (p.Val836Leu) c.397G>T (p.Val133Leu) n.494G>T n.2119G>T c.1467G>T c.540G>T | |
| 12 | g.6593204C>G | CA383592343 | CHD4 | c.2500G>C (p.Val834Leu) c.2539G>C (p.Val847Leu) c.2530G>C (p.Val844Leu) c.2465G>C c.2479G>C (p.Val827Leu) c.2518G>C (p.Val840Leu) c.1256G>C c.2506G>C (p.Val836Leu) c.397G>C (p.Val133Leu) n.494G>C n.2119G>C c.1467G>C c.540G>C | |
| 12 | g.6593204C>T | CA383592345 | CHD4 | c.2500G>A (p.Val834Met) c.2539G>A (p.Val847Met) c.2530G>A (p.Val844Met) c.2465G>A c.2479G>A (p.Val827Met) c.2518G>A (p.Val840Met) c.1256G>A c.2506G>A (p.Val836Met) c.397G>A (p.Val133Met) n.494G>A n.2119G>A c.1467G>A c.540G>A | gnomAD v4 |
| 12 | g.6593205A>C | CA383592349 | CHD4 | c.2499T>G (p.His833Gln) c.2538T>G (p.His846Gln) c.2529T>G (p.His843Gln) c.2464T>G c.2478T>G (p.His826Gln) c.2517T>G (p.His839Gln) c.1255T>G c.2505T>G (p.His835Gln) c.396T>G (p.His132Gln) n.493T>G n.2118T>G c.1466T>G c.539T>G | |
| 12 | g.6593205A>G | CA478132041 | CHD4 | c.2499T>C (p.His833=) c.2538T>C (p.His846=) c.2529T>C (p.His843=) c.2464T>C c.2478T>C (p.His826=) c.2517T>C (p.His839=) c.1255T>C c.2505T>C (p.His835=) c.396T>C (p.His132=) n.493T>C n.2118T>C c.1466T>C c.539T>C | gnomAD v4 |
| 12 | g.6593205A>T | CA383592351 | CHD4 | c.2499T>A (p.His833Gln) c.2538T>A (p.His846Gln) c.2529T>A (p.His843Gln) c.2464T>A c.2478T>A (p.His826Gln) c.2517T>A (p.His839Gln) c.1255T>A c.2505T>A (p.His835Gln) c.396T>A (p.His132Gln) n.493T>A n.2118T>A c.1466T>A c.539T>A | |
| 12 | g.6593206T>A | CA383592352 | CHD4 | c.2498A>T (p.His833Leu) c.2537A>T (p.His846Leu) c.2528A>T (p.His843Leu) c.2463A>T c.2477A>T (p.His826Leu) c.2516A>T (p.His839Leu) c.1254A>T c.2504A>T (p.His835Leu) c.395A>T (p.His132Leu) n.492A>T n.2117A>T c.1465A>T c.538A>T | |
| 12 | g.6593206T>C | CA383592354 | CHD4 | c.2498A>G (p.His833Arg) c.2537A>G (p.His846Arg) c.2528A>G (p.His843Arg) c.2463A>G c.2477A>G (p.His826Arg) c.2516A>G (p.His839Arg) c.1254A>G c.2504A>G (p.His835Arg) c.395A>G (p.His132Arg) n.492A>G n.2117A>G c.1465A>G c.538A>G | |
| 12 | g.6593206T>G | CA383592355 | CHD4 | c.2498A>C (p.His833Pro) c.2537A>C (p.His846Pro) c.2528A>C (p.His843Pro) c.2463A>C c.2477A>C (p.His826Pro) c.2516A>C (p.His839Pro) c.1254A>C c.2504A>C (p.His835Pro) c.395A>C (p.His132Pro) n.492A>C n.2117A>C c.1465A>C c.538A>C | |
| 12 | g.6593207G>A | CA383592372 | CHD4 | c.2497C>T (p.His833Tyr) c.2536C>T (p.His846Tyr) c.2527C>T (p.His843Tyr) c.2462C>T c.2476C>T (p.His826Tyr) c.2515C>T (p.His839Tyr) c.1253C>T c.2503C>T (p.His835Tyr) c.394C>T (p.His132Tyr) n.491C>T n.2116C>T c.1464C>T c.537C>T | |
| 12 | g.6593207G>C | CA383592357 | CHD4 | c.2497C>G (p.His833Asp) c.2536C>G (p.His846Asp) c.2527C>G (p.His843Asp) c.2462C>G c.2476C>G (p.His826Asp) c.2515C>G (p.His839Asp) c.1253C>G c.2503C>G (p.His835Asp) c.394C>G (p.His132Asp) n.491C>G n.2116C>G c.1464C>G c.537C>G | |
| 12 | g.6593207G>T | CA383592356 | CHD4 | c.2497C>A (p.His833Asn) c.2536C>A (p.His846Asn) c.2527C>A (p.His843Asn) c.2462C>A c.2476C>A (p.His826Asn) c.2515C>A (p.His839Asn) c.1253C>A c.2503C>A (p.His835Asn) c.394C>A (p.His132Asn) n.491C>A n.2116C>A c.1464C>A c.537C>A | |
| 12 | g.6593208G>A | CA478132045 | CHD4 | c.2496C>T (p.Phe832=) c.2535C>T (p.Phe845=) c.2526C>T (p.Phe842=) c.2461C>T c.2475C>T (p.Phe825=) c.2514C>T (p.Phe838=) c.1252C>T c.2502C>T (p.Phe834=) c.393C>T (p.Phe131=) n.490C>T n.2115C>T c.1463C>T c.536C>T | dbSNP |
| 12 | g.6593208G>C | CA383592376 | CHD4 | c.2496C>G (p.Phe832Leu) c.2535C>G (p.Phe845Leu) c.2526C>G (p.Phe842Leu) c.2461C>G c.2475C>G (p.Phe825Leu) c.2514C>G (p.Phe838Leu) c.1252C>G c.2502C>G (p.Phe834Leu) c.393C>G (p.Phe131Leu) n.490C>G n.2115C>G c.1463C>G c.536C>G | |
| 12 | g.6593208G= | CA2014149245 | CHD4 | c.2496C= (p.Phe832=) c.2535C= (p.Phe845=) c.2526C= (p.Phe842=) c.2461C= c.2475C= (p.Phe825=) c.2514C= (p.Phe838=) c.1252C= c.2502C= (p.Phe834=) c.393C= (p.Phe131=) n.490C= n.2115C= c.1463C= c.536C= | |
| 12 | g.6593208G>T | CA383592377 | CHD4 | c.2496C>A (p.Phe832Leu) c.2535C>A (p.Phe845Leu) c.2526C>A (p.Phe842Leu) c.2461C>A c.2475C>A (p.Phe825Leu) c.2514C>A (p.Phe838Leu) c.1252C>A c.2502C>A (p.Phe834Leu) c.393C>A (p.Phe131Leu) n.490C>A n.2115C>A c.1463C>A c.536C>A | |
| 12 | g.6593209A>C | CA383592380 | CHD4 | c.2495T>G (p.Phe832Cys) c.2534T>G (p.Phe845Cys) c.2525T>G (p.Phe842Cys) c.2460T>G c.2474T>G (p.Phe825Cys) c.2513T>G (p.Phe838Cys) c.1251T>G c.2501T>G (p.Phe834Cys) c.392T>G (p.Phe131Cys) n.489T>G n.2114T>G c.1462T>G c.535T>G | |
| 12 | g.6593209A>G | CA383592381 | CHD4 | c.2495T>C (p.Phe832Ser) c.2534T>C (p.Phe845Ser) c.2525T>C (p.Phe842Ser) c.2460T>C c.2474T>C (p.Phe825Ser) c.2513T>C (p.Phe838Ser) c.1251T>C c.2501T>C (p.Phe834Ser) c.392T>C (p.Phe131Ser) n.489T>C n.2114T>C c.1462T>C c.535T>C | |
| 12 | g.6593209A>T | CA383592382 | CHD4 | c.2495T>A (p.Phe832Tyr) c.2534T>A (p.Phe845Tyr) c.2525T>A (p.Phe842Tyr) c.2460T>A c.2474T>A (p.Phe825Tyr) c.2513T>A (p.Phe838Tyr) c.1251T>A c.2501T>A (p.Phe834Tyr) c.392T>A (p.Phe131Tyr) n.489T>A n.2114T>A c.1462T>A c.535T>A | |
| 12 | g.6593210A>C | CA383592385 | CHD4 | c.2494T>G (p.Phe832Val) c.2533T>G (p.Phe845Val) c.2524T>G (p.Phe842Val) c.2459T>G c.2473T>G (p.Phe825Val) c.2512T>G (p.Phe838Val) c.1250T>G c.2500T>G (p.Phe834Val) c.391T>G (p.Phe131Val) n.488T>G n.2113T>G c.1461T>G c.534T>G | |
| 12 | g.6593210A>G | CA383592387 | CHD4 | c.2494T>C (p.Phe832Leu) c.2533T>C (p.Phe845Leu) c.2524T>C (p.Phe842Leu) c.2459T>C c.2473T>C (p.Phe825Leu) c.2512T>C (p.Phe838Leu) c.1250T>C c.2500T>C (p.Phe834Leu) c.391T>C (p.Phe131Leu) n.488T>C n.2113T>C c.1461T>C c.534T>C | |
| 12 | g.6593210A>T | CA383592388 | CHD4 | c.2494T>A (p.Phe832Ile) c.2533T>A (p.Phe845Ile) c.2524T>A (p.Phe842Ile) c.2459T>A c.2473T>A (p.Phe825Ile) c.2512T>A (p.Phe838Ile) c.1250T>A c.2500T>A (p.Phe834Ile) c.391T>A (p.Phe131Ile) n.488T>A n.2113T>A c.1461T>A c.534T>A | |
| 12 | g.6593211T>A | CA383592395 | CHD4 | c.2493A>T (p.Lys831Asn) c.2532A>T (p.Lys844Asn) c.2523A>T (p.Lys841Asn) c.2458A>T c.2472A>T (p.Lys824Asn) c.2511A>T (p.Lys837Asn) c.1249A>T c.2499A>T (p.Lys833Asn) c.390A>T (p.Lys130Asn) n.487A>T n.2112A>T c.1460A>T c.533A>T | |
| 12 | g.6593211T>C | CA478132048 | CHD4 | c.2493A>G (p.Lys831=) c.2532A>G (p.Lys844=) c.2523A>G (p.Lys841=) c.2458A>G c.2472A>G (p.Lys824=) c.2511A>G (p.Lys837=) c.1249A>G c.2499A>G (p.Lys833=) c.390A>G (p.Lys130=) n.487A>G n.2112A>G c.1460A>G c.533A>G | |
| 12 | g.6593211T>G | CA383592401 | CHD4 | c.2493A>C (p.Lys831Asn) c.2532A>C (p.Lys844Asn) c.2523A>C (p.Lys841Asn) c.2458A>C c.2472A>C (p.Lys824Asn) c.2511A>C (p.Lys837Asn) c.1249A>C c.2499A>C (p.Lys833Asn) c.390A>C (p.Lys130Asn) n.487A>C n.2112A>C c.1460A>C c.533A>C | |
| 12 | g.6593212T>A | CA383592404 | CHD4 | c.2492A>T (p.Lys831Ile) c.2531A>T (p.Lys844Ile) c.2522A>T (p.Lys841Ile) c.2457A>T c.2471A>T (p.Lys824Ile) c.2510A>T (p.Lys837Ile) c.1248A>T c.2498A>T (p.Lys833Ile) c.389A>T (p.Lys130Ile) n.486A>T n.2111A>T c.1459A>T c.532A>T | |
| 12 | g.6593212T>C | CA383592405 | CHD4 | c.2492A>G (p.Lys831Arg) c.2531A>G (p.Lys844Arg) c.2522A>G (p.Lys841Arg) c.2457A>G c.2471A>G (p.Lys824Arg) c.2510A>G (p.Lys837Arg) c.1248A>G c.2498A>G (p.Lys833Arg) c.389A>G (p.Lys130Arg) n.486A>G n.2111A>G c.1459A>G c.532A>G | |
| 12 | g.6593212T>G | CA383592407 | CHD4 | c.2492A>C (p.Lys831Thr) c.2531A>C (p.Lys844Thr) c.2522A>C (p.Lys841Thr) c.2457A>C c.2471A>C (p.Lys824Thr) c.2510A>C (p.Lys837Thr) c.1248A>C c.2498A>C (p.Lys833Thr) c.389A>C (p.Lys130Thr) n.486A>C n.2111A>C c.1459A>C c.532A>C | |
| 12 | g.6593213T>A | CA383592417 | CHD4 | c.2491A>T (p.Lys831Ter) c.2530A>T (p.Lys844Ter) c.2521A>T (p.Lys841Ter) c.2456A>T c.2470A>T (p.Lys824Ter) c.2509A>T (p.Lys837Ter) c.1247A>T c.2497A>T (p.Lys833Ter) c.388A>T (p.Lys130Ter) n.485A>T n.2110A>T c.1458A>T c.531A>T | |
| 12 | g.6593213T>C | CA383592413 | CHD4 | c.2491A>G (p.Lys831Glu) c.2530A>G (p.Lys844Glu) c.2521A>G (p.Lys841Glu) c.2456A>G c.2470A>G (p.Lys824Glu) c.2509A>G (p.Lys837Glu) c.1247A>G c.2497A>G (p.Lys833Glu) c.388A>G (p.Lys130Glu) n.485A>G n.2110A>G c.1458A>G c.531A>G | |
| 12 | g.6593213T>G | CA383592411 | CHD4 | c.2491A>C (p.Lys831Gln) c.2530A>C (p.Lys844Gln) c.2521A>C (p.Lys841Gln) c.2456A>C c.2470A>C (p.Lys824Gln) c.2509A>C (p.Lys837Gln) c.1247A>C c.2497A>C (p.Lys833Gln) c.388A>C (p.Lys130Gln) n.485A>C n.2110A>C c.1458A>C c.531A>C | |
| 12 | g.6593214C>A | CA478132053 | CHD4 | c.2490G>T (p.Val830=) c.2529G>T (p.Val843=) c.2520G>T (p.Val840=) c.2455G>T c.2469G>T (p.Val823=) c.2508G>T (p.Val836=) c.1246G>T c.2496G>T (p.Val832=) c.387G>T (p.Val129=) n.484G>T n.2109G>T c.1457G>T c.530G>T | |
| 12 | g.6593214C>G | CA478132050 | CHD4 | c.2490G>C (p.Val830=) c.2529G>C (p.Val843=) c.2520G>C (p.Val840=) c.2455G>C c.2469G>C (p.Val823=) c.2508G>C (p.Val836=) c.1246G>C c.2496G>C (p.Val832=) c.387G>C (p.Val129=) n.484G>C n.2109G>C c.1457G>C c.530G>C | |
| 12 | g.6593214C>T | CA478132052 | CHD4 | c.2490G>A (p.Val830=) c.2529G>A (p.Val843=) c.2520G>A (p.Val840=) c.2455G>A c.2469G>A (p.Val823=) c.2508G>A (p.Val836=) c.1246G>A c.2496G>A (p.Val832=) c.387G>A (p.Val129=) n.484G>A n.2109G>A c.1457G>A c.530G>A | |
| 12 | g.6593216_6593217del | CA2617296588 | CHD4 | c.2489_2490del (p.Val830GlufsTer10) c.2528_2529del (p.Val843GlufsTer10) c.2519_2520del (p.Val840GlufsTer10) c.2454_2455del c.2468_2469del (p.Val823GlufsTer10) c.2507_2508del (p.Val836GlufsTer10) c.1245_1246del c.2495_2496del (p.Val832GlufsTer10) c.386_387del (p.Val129GlufsTer10) n.483_484del n.2108_2109del c.1456_1457del c.529_530del | gnomAD v4 |
| 12 | g.6593215A>C | CA383592419 | CHD4 | c.2489T>G (p.Val830Gly) c.2528T>G (p.Val843Gly) c.2519T>G (p.Val840Gly) c.2454T>G c.2468T>G (p.Val823Gly) c.2507T>G (p.Val836Gly) c.1245T>G c.2495T>G (p.Val832Gly) c.386T>G (p.Val129Gly) n.483T>G n.2108T>G c.1456T>G c.529T>G | |
| 12 | g.6593215A>G | CA383592420 | CHD4 | c.2489T>C (p.Val830Ala) c.2528T>C (p.Val843Ala) c.2519T>C (p.Val840Ala) c.2454T>C c.2468T>C (p.Val823Ala) c.2507T>C (p.Val836Ala) c.1245T>C c.2495T>C (p.Val832Ala) c.386T>C (p.Val129Ala) n.483T>C n.2108T>C c.1456T>C c.529T>C | COSMIC COSMIC COSMIC |
| 12 | g.6593215A>T | CA383592422 | CHD4 | c.2489T>A (p.Val830Glu) c.2528T>A (p.Val843Glu) c.2519T>A (p.Val840Glu) c.2454T>A c.2468T>A (p.Val823Glu) c.2507T>A (p.Val836Glu) c.1245T>A c.2495T>A (p.Val832Glu) c.386T>A (p.Val129Glu) n.483T>A n.2108T>A c.1456T>A c.529T>A | |
| 12 | g.6593216C>A | CA383592424 | CHD4 | c.2488G>T (p.Val830Leu) c.2527G>T (p.Val843Leu) c.2518G>T (p.Val840Leu) c.2453G>T c.2467G>T (p.Val823Leu) c.2506G>T (p.Val836Leu) c.1244G>T c.2494G>T (p.Val832Leu) c.385G>T (p.Val129Leu) n.482G>T n.2107G>T c.1455G>T c.528G>T | |
| 12 | g.6593216C= | CA2014149249 | CHD4 | c.2488G= (p.Val830=) c.2527G= (p.Val843=) c.2518G= (p.Val840=) c.2453G= c.2467G= (p.Val823=) c.2506G= (p.Val836=) c.1244G= c.2494G= (p.Val832=) c.385G= (p.Val129=) n.482G= n.2107G= c.1455G= c.528G= | |
| 12 | g.6593216C>G | CA6411943 | CHD4 | c.2488G>C (p.Val830Leu) c.2527G>C (p.Val843Leu) c.2518G>C (p.Val840Leu) c.2453G>C c.2467G>C (p.Val823Leu) c.2506G>C (p.Val836Leu) c.1244G>C c.2494G>C (p.Val832Leu) c.385G>C (p.Val129Leu) n.482G>C n.2107G>C c.1455G>C c.528G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593216C>T | CA383592429 | CHD4 | c.2488G>A (p.Val830Met) c.2527G>A (p.Val843Met) c.2518G>A (p.Val840Met) c.2453G>A c.2467G>A (p.Val823Met) c.2506G>A (p.Val836Met) c.1244G>A c.2494G>A (p.Val832Met) c.385G>A (p.Val129Met) n.482G>A n.2107G>A c.1455G>A c.528G>A | |
| 12 | g.6593217A>C | CA478132054 | CHD4 | c.2487T>G (p.Ser829=) c.2526T>G (p.Ser842=) c.2517T>G (p.Ser839=) c.2452T>G c.2466T>G (p.Ser822=) c.2505T>G (p.Ser835=) c.1243T>G c.2493T>G (p.Ser831=) c.384T>G (p.Ser128=) n.481T>G n.2106T>G c.1454T>G c.527T>G | |
| 12 | g.6593217A>G | CA478132055 | CHD4 | c.2487T>C (p.Ser829=) c.2526T>C (p.Ser842=) c.2517T>C (p.Ser839=) c.2452T>C c.2466T>C (p.Ser822=) c.2505T>C (p.Ser835=) c.1243T>C c.2493T>C (p.Ser831=) c.384T>C (p.Ser128=) n.481T>C n.2106T>C c.1454T>C c.527T>C | |
| 12 | g.6593217A>T | CA478132056 | CHD4 | c.2487T>A (p.Ser829=) c.2526T>A (p.Ser842=) c.2517T>A (p.Ser839=) c.2452T>A c.2466T>A (p.Ser822=) c.2505T>A (p.Ser835=) c.1243T>A c.2493T>A (p.Ser831=) c.384T>A (p.Ser128=) n.481T>A n.2106T>A c.1454T>A c.527T>A | |
| 12 | g.6593218G>A | CA383592431 | CHD4 | c.2486C>T (p.Ser829Phe) c.2525C>T (p.Ser842Phe) c.2516C>T (p.Ser839Phe) c.2451C>T c.2465C>T (p.Ser822Phe) c.2504C>T (p.Ser835Phe) c.1242C>T c.2492C>T (p.Ser831Phe) c.383C>T (p.Ser128Phe) n.480C>T n.2105C>T c.1453C>T c.526C>T | |
| 12 | g.6593218G>C | CA6411944 | CHD4 | c.2486C>G (p.Ser829Cys) c.2525C>G (p.Ser842Cys) c.2516C>G (p.Ser839Cys) c.2451C>G c.2465C>G (p.Ser822Cys) c.2504C>G (p.Ser835Cys) c.1242C>G c.2492C>G (p.Ser831Cys) c.383C>G (p.Ser128Cys) n.480C>G n.2105C>G c.1453C>G c.526C>G | dbSNP ExAC gnomAD v2 |
| 12 | g.6593218G= | CA2014149253 | CHD4 | c.2486C= (p.Ser829=) c.2525C= (p.Ser842=) c.2516C= (p.Ser839=) c.2451C= c.2465C= (p.Ser822=) c.2504C= (p.Ser835=) c.1242C= c.2492C= (p.Ser831=) c.383C= (p.Ser128=) n.480C= n.2105C= c.1453C= c.526C= | |
| 12 | g.6593218G>T | CA383592435 | CHD4 | c.2486C>A (p.Ser829Tyr) c.2525C>A (p.Ser842Tyr) c.2516C>A (p.Ser839Tyr) c.2451C>A c.2465C>A (p.Ser822Tyr) c.2504C>A (p.Ser835Tyr) c.1242C>A c.2492C>A (p.Ser831Tyr) c.383C>A (p.Ser128Tyr) n.480C>A n.2105C>A c.1453C>A c.526C>A | |
| 12 | g.6593219A= | CA2014149256 | CHD4 | c.2485T= (p.Ser829=) c.2524T= (p.Ser842=) c.2515T= (p.Ser839=) c.2450T= c.2464T= (p.Ser822=) c.2503T= (p.Ser835=) c.1241T= c.2491T= (p.Ser831=) c.382T= (p.Ser128=) n.479T= n.2104T= c.1452T= c.525T= | |
| 12 | g.6593219A>C | CA383592438 | CHD4 | c.2485T>G (p.Ser829Ala) c.2524T>G (p.Ser842Ala) c.2515T>G (p.Ser839Ala) c.2450T>G c.2464T>G (p.Ser822Ala) c.2503T>G (p.Ser835Ala) c.1241T>G c.2491T>G (p.Ser831Ala) c.382T>G (p.Ser128Ala) n.479T>G n.2104T>G c.1452T>G c.525T>G | |
| 12 | g.6593219A>G | CA383592441 | CHD4 | c.2485T>C (p.Ser829Pro) c.2524T>C (p.Ser842Pro) c.2515T>C (p.Ser839Pro) c.2450T>C c.2464T>C (p.Ser822Pro) c.2503T>C (p.Ser835Pro) c.1241T>C c.2491T>C (p.Ser831Pro) c.382T>C (p.Ser128Pro) n.479T>C n.2104T>C c.1452T>C c.525T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593219A>T | CA383592442 | CHD4 | c.2485T>A (p.Ser829Thr) c.2524T>A (p.Ser842Thr) c.2515T>A (p.Ser839Thr) c.2450T>A c.2464T>A (p.Ser822Thr) c.2503T>A (p.Ser835Thr) c.1241T>A c.2491T>A (p.Ser831Thr) c.382T>A (p.Ser128Thr) n.479T>A n.2104T>A c.1452T>A c.525T>A | |
| 12 | g.6593220T>A | CA478132059 | CHD4 | c.2484A>T (p.Ala828=) c.2523A>T (p.Ala841=) c.2514A>T (p.Ala838=) c.2449A>T c.2463A>T (p.Ala821=) c.2502A>T (p.Ala834=) c.1240A>T c.2490A>T (p.Ala830=) c.381A>T (p.Ala127=) n.478A>T n.2103A>T c.1451A>T c.524A>T | |
| 12 | g.6593220T>C | CA478132058 | CHD4 | c.2484A>G (p.Ala828=) c.2523A>G (p.Ala841=) c.2514A>G (p.Ala838=) c.2449A>G c.2463A>G (p.Ala821=) c.2502A>G (p.Ala834=) c.1240A>G c.2490A>G (p.Ala830=) c.381A>G (p.Ala127=) n.478A>G n.2103A>G c.1451A>G c.524A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593220T>G | CA478132060 | CHD4 | c.2484A>C (p.Ala828=) c.2523A>C (p.Ala841=) c.2514A>C (p.Ala838=) c.2449A>C c.2463A>C (p.Ala821=) c.2502A>C (p.Ala834=) c.1240A>C c.2490A>C (p.Ala830=) c.381A>C (p.Ala127=) n.478A>C n.2103A>C c.1451A>C c.524A>C | |
| 12 | g.6593220T= | CA2014149258 | CHD4 | c.2484A= (p.Ala828=) c.2523A= (p.Ala841=) c.2514A= (p.Ala838=) c.2449A= c.2463A= (p.Ala821=) c.2502A= (p.Ala834=) c.1240A= c.2490A= (p.Ala830=) c.381A= (p.Ala127=) n.478A= n.2103A= c.1451A= c.524A= | |
| 12 | g.6593221G>A | CA383592445 | CHD4 | c.2483C>T (p.Ala828Val) c.2522C>T (p.Ala841Val) c.2513C>T (p.Ala838Val) c.2448C>T c.2462C>T (p.Ala821Val) c.2501C>T (p.Ala834Val) c.1239C>T c.2489C>T (p.Ala830Val) c.380C>T (p.Ala127Val) n.477C>T n.2102C>T c.1450C>T c.523C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593221G>C | CA383592446 | CHD4 | c.2483C>G (p.Ala828Gly) c.2522C>G (p.Ala841Gly) c.2513C>G (p.Ala838Gly) c.2448C>G c.2462C>G (p.Ala821Gly) c.2501C>G (p.Ala834Gly) c.1239C>G c.2489C>G (p.Ala830Gly) c.380C>G (p.Ala127Gly) n.477C>G n.2102C>G c.1450C>G c.523C>G | |
| 12 | g.6593221G>T | CA383592443 | CHD4 | c.2483C>A (p.Ala828Glu) c.2522C>A (p.Ala841Glu) c.2513C>A (p.Ala838Glu) c.2448C>A c.2462C>A (p.Ala821Glu) c.2501C>A (p.Ala834Glu) c.1239C>A c.2489C>A (p.Ala830Glu) c.380C>A (p.Ala127Glu) n.477C>A n.2102C>A c.1450C>A c.523C>A | |
| 12 | g.6593222C>A | CA383592447 | CHD4 | c.2482G>T (p.Ala828Ser) c.2521G>T (p.Ala841Ser) c.2512G>T (p.Ala838Ser) c.2447G>T c.2461G>T (p.Ala821Ser) c.2500G>T (p.Ala834Ser) c.1238G>T c.2488G>T (p.Ala830Ser) c.379G>T (p.Ala127Ser) n.476G>T n.2101G>T c.1449G>T c.522G>T | gnomAD v4 |
| 12 | g.6593222C>G | CA383592449 | CHD4 | c.2482G>C (p.Ala828Pro) c.2521G>C (p.Ala841Pro) c.2512G>C (p.Ala838Pro) c.2447G>C c.2461G>C (p.Ala821Pro) c.2500G>C (p.Ala834Pro) c.1238G>C c.2488G>C (p.Ala830Pro) c.379G>C (p.Ala127Pro) n.476G>C n.2101G>C c.1449G>C c.522G>C | |
| 12 | g.6593222C>T | CA383592451 | CHD4 | c.2482G>A (p.Ala828Thr) c.2521G>A (p.Ala841Thr) c.2512G>A (p.Ala838Thr) c.2447G>A c.2461G>A (p.Ala821Thr) c.2500G>A (p.Ala834Thr) c.1238G>A c.2488G>A (p.Ala830Thr) c.379G>A (p.Ala127Thr) n.476G>A n.2101G>A c.1449G>A c.522G>A | gnomAD v4 |
| 12 | g.6593223C>A | CA383592454 | CHD4 | c.2481G>T (p.Glu827Asp) c.2520G>T (p.Glu840Asp) c.2511G>T (p.Glu837Asp) c.2446G>T c.2460G>T (p.Glu820Asp) c.2499G>T (p.Glu833Asp) c.1237G>T c.2487G>T (p.Glu829Asp) c.378G>T (p.Glu126Asp) n.475G>T n.2100G>T c.1448G>T c.521G>T | |
| 12 | g.6593223C= | CA2014149265 | CHD4 | c.2481G= (p.Glu827=) c.2520G= (p.Glu840=) c.2511G= (p.Glu837=) c.2446G= c.2460G= (p.Glu820=) c.2499G= (p.Glu833=) c.1237G= c.2487G= (p.Glu829=) c.378G= (p.Glu126=) n.475G= n.2100G= c.1448G= c.521G= | |
| 12 | g.6593223C>G | CA383592466 | CHD4 | c.2481G>C (p.Glu827Asp) c.2520G>C (p.Glu840Asp) c.2511G>C (p.Glu837Asp) c.2446G>C c.2460G>C (p.Glu820Asp) c.2499G>C (p.Glu833Asp) c.1237G>C c.2487G>C (p.Glu829Asp) c.378G>C (p.Glu126Asp) n.475G>C n.2100G>C c.1448G>C c.521G>C | |
| 12 | g.6593223C>T | CA6411945 | CHD4 | c.2481G>A (p.Glu827=) c.2520G>A (p.Glu840=) c.2511G>A (p.Glu837=) c.2446G>A c.2460G>A (p.Glu820=) c.2499G>A (p.Glu833=) c.1237G>A c.2487G>A (p.Glu829=) c.378G>A (p.Glu126=) n.475G>A n.2100G>A c.1448G>A c.521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593224T>A | CA383592475 | CHD4 | c.2480A>T (p.Glu827Val) c.2519A>T (p.Glu840Val) c.2510A>T (p.Glu837Val) c.2445A>T c.2459A>T (p.Glu820Val) c.2498A>T (p.Glu833Val) c.1236A>T c.2486A>T (p.Glu829Val) c.377A>T (p.Glu126Val) n.474A>T n.2099A>T c.1447A>T c.520A>T | |
| 12 | g.6593224T>C | CA383592472 | CHD4 | c.2480A>G (p.Glu827Gly) c.2519A>G (p.Glu840Gly) c.2510A>G (p.Glu837Gly) c.2445A>G c.2459A>G (p.Glu820Gly) c.2498A>G (p.Glu833Gly) c.1236A>G c.2486A>G (p.Glu829Gly) c.377A>G (p.Glu126Gly) n.474A>G n.2099A>G c.1447A>G c.520A>G | |
| 12 | g.6593224T>G | CA383592473 | CHD4 | c.2480A>C (p.Glu827Ala) c.2519A>C (p.Glu840Ala) c.2510A>C (p.Glu837Ala) c.2445A>C c.2459A>C (p.Glu820Ala) c.2498A>C (p.Glu833Ala) c.1236A>C c.2486A>C (p.Glu829Ala) c.377A>C (p.Glu126Ala) n.474A>C n.2099A>C c.1447A>C c.520A>C | |
| 12 | g.6593225C>A | CA383592477 | CHD4 | c.2479G>T (p.Glu827Ter) c.2518G>T (p.Glu840Ter) c.2509G>T (p.Glu837Ter) c.2444G>T c.2458G>T (p.Glu820Ter) c.2497G>T (p.Glu833Ter) c.1235G>T c.2485G>T (p.Glu829Ter) c.376G>T (p.Glu126Ter) n.473G>T n.2098G>T c.1446G>T c.519G>T | |
| 12 | g.6593225C= | CA2014149273 | CHD4 | c.2479G= (p.Glu827=) c.2518G= (p.Glu840=) c.2509G= (p.Glu837=) c.2444G= c.2458G= (p.Glu820=) c.2497G= (p.Glu833=) c.1235G= c.2485G= (p.Glu829=) c.376G= (p.Glu126=) n.473G= n.2098G= c.1446G= c.519G= | |
| 12 | g.6593225C>G | CA232392921 | CHD4 | c.2479G>C (p.Glu827Gln) c.2518G>C (p.Glu840Gln) c.2509G>C (p.Glu837Gln) c.2444G>C c.2458G>C (p.Glu820Gln) c.2497G>C (p.Glu833Gln) c.1235G>C c.2485G>C (p.Glu829Gln) c.376G>C (p.Glu126Gln) n.473G>C n.2098G>C c.1446G>C c.519G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593225C>T | CA383592480 | CHD4 | c.2479G>A (p.Glu827Lys) c.2518G>A (p.Glu840Lys) c.2509G>A (p.Glu837Lys) c.2444G>A c.2458G>A (p.Glu820Lys) c.2497G>A (p.Glu833Lys) c.1235G>A c.2485G>A (p.Glu829Lys) c.376G>A (p.Glu126Lys) n.473G>A n.2098G>A c.1446G>A c.519G>A | |
| 12 | g.6593226T>A | CA383592483 | CHD4 | c.2478A>T (p.Lys826Asn) c.2517A>T (p.Lys839Asn) c.2508A>T (p.Lys836Asn) c.2443A>T c.2457A>T (p.Lys819Asn) c.2496A>T (p.Lys832Asn) c.1234A>T c.2484A>T (p.Lys828Asn) c.375A>T (p.Lys125Asn) n.472A>T n.2097A>T c.1445A>T c.518A>T | |
| 12 | g.6593226T>C | CA478132064 | CHD4 | c.2478A>G (p.Lys826=) c.2517A>G (p.Lys839=) c.2508A>G (p.Lys836=) c.2443A>G c.2457A>G (p.Lys819=) c.2496A>G (p.Lys832=) c.1234A>G c.2484A>G (p.Lys828=) c.375A>G (p.Lys125=) n.472A>G n.2097A>G c.1445A>G c.518A>G | |
| 12 | g.6593226T>G | CA383592484 | CHD4 | c.2478A>C (p.Lys826Asn) c.2517A>C (p.Lys839Asn) c.2508A>C (p.Lys836Asn) c.2443A>C c.2457A>C (p.Lys819Asn) c.2496A>C (p.Lys832Asn) c.1234A>C c.2484A>C (p.Lys828Asn) c.375A>C (p.Lys125Asn) n.472A>C n.2097A>C c.1445A>C c.518A>C | |
| 12 | g.6593227T>A | CA383592486 | CHD4 | c.2477A>T (p.Lys826Ile) c.2516A>T (p.Lys839Ile) c.2507A>T (p.Lys836Ile) c.2442A>T c.2456A>T (p.Lys819Ile) c.2495A>T (p.Lys832Ile) c.1233A>T c.2483A>T (p.Lys828Ile) c.374A>T (p.Lys125Ile) n.471A>T n.2096A>T c.1444A>T c.517A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593227T>C | CA6411946 | CHD4 | c.2477A>G (p.Lys826Arg) c.2516A>G (p.Lys839Arg) c.2507A>G (p.Lys836Arg) c.2442A>G c.2456A>G (p.Lys819Arg) c.2495A>G (p.Lys832Arg) c.1233A>G c.2483A>G (p.Lys828Arg) c.374A>G (p.Lys125Arg) n.471A>G n.2096A>G c.1444A>G c.517A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593227T>G | CA383592489 | CHD4 | c.2477A>C (p.Lys826Thr) c.2516A>C (p.Lys839Thr) c.2507A>C (p.Lys836Thr) c.2442A>C c.2456A>C (p.Lys819Thr) c.2495A>C (p.Lys832Thr) c.1233A>C c.2483A>C (p.Lys828Thr) c.374A>C (p.Lys125Thr) n.471A>C n.2096A>C c.1444A>C c.517A>C | |
| 12 | g.6593227T= | CA2014149275 | CHD4 | c.2477A= (p.Lys826=) c.2516A= (p.Lys839=) c.2507A= (p.Lys836=) c.2442A= c.2456A= (p.Lys819=) c.2495A= (p.Lys832=) c.1233A= c.2483A= (p.Lys828=) c.374A= (p.Lys125=) n.471A= n.2096A= c.1444A= c.517A= | |
| 12 | g.6593228T>A | CA383592493 | CHD4 | c.2476A>T (p.Lys826Ter) c.2515A>T (p.Lys839Ter) c.2506A>T (p.Lys836Ter) c.2441A>T c.2455A>T (p.Lys819Ter) c.2494A>T (p.Lys832Ter) c.1232A>T c.2482A>T (p.Lys828Ter) c.373A>T (p.Lys125Ter) n.470A>T n.2095A>T c.1443A>T c.516A>T | |
| 12 | g.6593228T>C | CA383592497 | CHD4 | c.2476A>G (p.Lys826Glu) c.2515A>G (p.Lys839Glu) c.2506A>G (p.Lys836Glu) c.2441A>G c.2455A>G (p.Lys819Glu) c.2494A>G (p.Lys832Glu) c.1232A>G c.2482A>G (p.Lys828Glu) c.373A>G (p.Lys125Glu) n.470A>G n.2095A>G c.1443A>G c.516A>G | |
| 12 | g.6593228T>G | CA383592500 | CHD4 | c.2476A>C (p.Lys826Gln) c.2515A>C (p.Lys839Gln) c.2506A>C (p.Lys836Gln) c.2441A>C c.2455A>C (p.Lys819Gln) c.2494A>C (p.Lys832Gln) c.1232A>C c.2482A>C (p.Lys828Gln) c.373A>C (p.Lys125Gln) n.470A>C n.2095A>C c.1443A>C c.516A>C | |
| 12 | g.6593229C>A | CA383592504 | CHD4 | c.2476-1G>T (n.2476-1G>T) c.2515-1G>T (n.2515-1G>T) c.2506-1G>T (n.2506-1G>T) c.2441-1G>T c.2455-1G>T (n.2455-1G>T) c.2494-1G>T (n.2494-1G>T) c.1232-1G>T c.2482-1G>T (n.2482-1G>T) c.373-1G>T (n.373-1G>T) n.470-1G>T n.2095-1G>T c.1443-1G>T c.516-1G>T | |
| 12 | g.6593229C>G | CA383592506 | CHD4 | c.2476-1G>C (n.2476-1G>C) c.2515-1G>C (n.2515-1G>C) c.2506-1G>C (n.2506-1G>C) c.2441-1G>C c.2455-1G>C (n.2455-1G>C) c.2494-1G>C (n.2494-1G>C) c.1232-1G>C c.2482-1G>C (n.2482-1G>C) c.373-1G>C (n.373-1G>C) n.470-1G>C n.2095-1G>C c.1443-1G>C c.516-1G>C | |
| 12 | g.6593229C>T | CA383592508 | CHD4 | c.2476-1G>A (n.2476-1G>A) c.2515-1G>A (n.2515-1G>A) c.2506-1G>A (n.2506-1G>A) c.2441-1G>A c.2455-1G>A (n.2455-1G>A) c.2494-1G>A (n.2494-1G>A) c.1232-1G>A c.2482-1G>A (n.2482-1G>A) c.373-1G>A (n.373-1G>A) n.470-1G>A n.2095-1G>A c.1443-1G>A c.516-1G>A | |
| 12 | g.6593230T>A | CA383592510 | CHD4 | c.2476-2A>T (n.2476-2A>T) c.2515-2A>T (n.2515-2A>T) c.2506-2A>T (n.2506-2A>T) c.2441-2A>T c.2455-2A>T (n.2455-2A>T) c.2494-2A>T (n.2494-2A>T) c.1232-2A>T c.2482-2A>T (n.2482-2A>T) c.373-2A>T (n.373-2A>T) n.470-2A>T n.2095-2A>T c.1443-2A>T c.516-2A>T | |
| 12 | g.6593230T>C | CA383592513 | CHD4 | c.2476-2A>G (n.2476-2A>G) c.2515-2A>G (n.2515-2A>G) c.2506-2A>G (n.2506-2A>G) c.2441-2A>G c.2455-2A>G (n.2455-2A>G) c.2494-2A>G (n.2494-2A>G) c.1232-2A>G c.2482-2A>G (n.2482-2A>G) c.373-2A>G (n.373-2A>G) n.470-2A>G n.2095-2A>G c.1443-2A>G c.516-2A>G | |
| 12 | g.6593230T>G | CA383592514 | CHD4 | c.2476-2A>C (n.2476-2A>C) c.2515-2A>C (n.2515-2A>C) c.2506-2A>C (n.2506-2A>C) c.2441-2A>C c.2455-2A>C (n.2455-2A>C) c.2494-2A>C (n.2494-2A>C) c.1232-2A>C c.2482-2A>C (n.2482-2A>C) c.373-2A>C (n.373-2A>C) n.470-2A>C n.2095-2A>C c.1443-2A>C c.516-2A>C | |
| 12 | g.6593230T= | CA2014149278 | CHD4 | c.2476-2A= (n.2476-2A=) c.2515-2A= (n.2515-2A=) c.2506-2A= (n.2506-2A=) c.2441-2A= c.2455-2A= (n.2455-2A=) c.2494-2A= (n.2494-2A=) c.1232-2A= c.2482-2A= (n.2482-2A=) c.373-2A= (n.373-2A=) n.470-2A= n.2095-2A= c.1443-2A= c.516-2A= | |
| 12 | g.6593231_6593232insAGAG | CA603485110 | CHD4 | c.2476-3_2476-2insTCTC (n.2476-3_2476-2insTCTC) c.2515-3_2515-2insTCTC (n.2515-3_2515-2insTCTC) c.2506-3_2506-2insTCTC (n.2506-3_2506-2insTCTC) c.2441-3_2441-2insTCTC c.2455-3_2455-2insTCTC (n.2455-3_2455-2insTCTC) c.2494-3_2494-2insTCTC (n.2494-3_2494-2insTCTC) c.1232-3_1232-2insTCTC c.2482-3_2482-2insTCTC (n.2482-3_2482-2insTCTC) c.373-3_373-2insTCTC (n.373-3_373-2insTCTC) n.470-3_470-2insTCTC n.2095-3_2095-2insTCTC c.1443-3_1443-2insTCTC c.516-3_516-2insTCTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593232C= | CA2014149287 | CHD4 | c.2476-4G= (n.2476-4G=) c.2515-4G= (n.2515-4G=) c.2506-4G= (n.2506-4G=) c.2441-4G= c.2455-4G= (n.2455-4G=) c.2494-4G= (n.2494-4G=) c.1232-4G= c.2482-4G= (n.2482-4G=) c.373-4G= (n.373-4G=) n.470-4G= n.2095-4G= c.1443-4G= c.516-4G= | |
| 12 | g.6593232C>T | CA2014149284 | CHD4 | c.2476-4G>A (n.2476-4G>A) c.2515-4G>A (n.2515-4G>A) c.2506-4G>A (n.2506-4G>A) c.2441-4G>A c.2455-4G>A (n.2455-4G>A) c.2494-4G>A (n.2494-4G>A) c.1232-4G>A c.2482-4G>A (n.2482-4G>A) c.373-4G>A (n.373-4G>A) n.470-4G>A n.2095-4G>A c.1443-4G>A c.516-4G>A | dbSNP |
| 12 | g.6593234C>A | CA2617296589 | CHD4 | c.2476-6G>T (n.2476-6G>T) c.2515-6G>T (n.2515-6G>T) c.2506-6G>T (n.2506-6G>T) c.2441-6G>T c.2455-6G>T (n.2455-6G>T) c.2494-6G>T (n.2494-6G>T) c.1232-6G>T c.2482-6G>T (n.2482-6G>T) c.373-6G>T (n.373-6G>T) n.470-6G>T n.2095-6G>T c.1443-6G>T c.516-6G>T | gnomAD v4 |
| 12 | g.6593234C= | CA2014149290 | CHD4 | c.2476-6G= (n.2476-6G=) c.2515-6G= (n.2515-6G=) c.2506-6G= (n.2506-6G=) c.2441-6G= c.2455-6G= (n.2455-6G=) c.2494-6G= (n.2494-6G=) c.1232-6G= c.2482-6G= (n.2482-6G=) c.373-6G= (n.373-6G=) n.470-6G= n.2095-6G= c.1443-6G= c.516-6G= | |
| 12 | g.6593234C>T | CA603485111 | CHD4 | c.2476-6G>A (n.2476-6G>A) c.2515-6G>A (n.2515-6G>A) c.2506-6G>A (n.2506-6G>A) c.2441-6G>A c.2455-6G>A (n.2455-6G>A) c.2494-6G>A (n.2494-6G>A) c.1232-6G>A c.2482-6G>A (n.2482-6G>A) c.373-6G>A (n.373-6G>A) n.470-6G>A n.2095-6G>A c.1443-6G>A c.516-6G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593236T>C | CA2575058113 | CHD4 | c.2476-8A>G (n.2476-8A>G) c.2515-8A>G (n.2515-8A>G) c.2506-8A>G (n.2506-8A>G) c.2441-8A>G c.2455-8A>G (n.2455-8A>G) c.2494-8A>G (n.2494-8A>G) c.1232-8A>G c.2482-8A>G (n.2482-8A>G) c.373-8A>G (n.373-8A>G) n.470-8A>G n.2095-8A>G c.1443-8A>G c.516-8A>G | gnomAD v4 |
| 12 | g.6593238_6593240dup | CA2794422105 | CHD4 | c.2476-11_2476-9dup (n.2476-11_2476-9dup) c.2515-11_2515-9dup (n.2515-11_2515-9dup) c.2506-11_2506-9dup (n.2506-11_2506-9dup) c.2441-11_2441-9dup c.2455-11_2455-9dup (n.2455-11_2455-9dup) c.2494-11_2494-9dup (n.2494-11_2494-9dup) c.1232-11_1232-9dup c.2482-11_2482-9dup (n.2482-11_2482-9dup) c.373-11_373-9dup (n.373-11_373-9dup) n.470-11_470-9dup n.2095-11_2095-9dup c.1443-11_1443-9dup c.516-11_516-9dup | |
| 12 | g.6593240G>A | CA2575058114 | CHD4 | c.2476-12C>T (n.2476-12C>T) c.2515-12C>T (n.2515-12C>T) c.2506-12C>T (n.2506-12C>T) c.2441-12C>T c.2455-12C>T (n.2455-12C>T) c.2494-12C>T (n.2494-12C>T) c.1232-12C>T c.2482-12C>T (n.2482-12C>T) c.373-12C>T (n.373-12C>T) n.470-12C>T n.2095-12C>T c.1443-12C>T c.516-12C>T | |
| 12 | g.6593240G>C | CA2014149293 | CHD4 | c.2476-12C>G (n.2476-12C>G) c.2515-12C>G (n.2515-12C>G) c.2506-12C>G (n.2506-12C>G) c.2441-12C>G c.2455-12C>G (n.2455-12C>G) c.2494-12C>G (n.2494-12C>G) c.1232-12C>G c.2482-12C>G (n.2482-12C>G) c.373-12C>G (n.373-12C>G) n.470-12C>G n.2095-12C>G c.1443-12C>G c.516-12C>G | dbSNP gnomAD v4 |
| 12 | g.6593240G= | CA2014149292 | CHD4 | c.2476-12C= (n.2476-12C=) c.2515-12C= (n.2515-12C=) c.2506-12C= (n.2506-12C=) c.2441-12C= c.2455-12C= (n.2455-12C=) c.2494-12C= (n.2494-12C=) c.1232-12C= c.2482-12C= (n.2482-12C=) c.373-12C= (n.373-12C=) n.470-12C= n.2095-12C= c.1443-12C= c.516-12C= | |
| 12 | g.6593241G>A | CA2617296590 | CHD4 | c.2476-13C>T (n.2476-13C>T) c.2515-13C>T (n.2515-13C>T) c.2506-13C>T (n.2506-13C>T) c.2441-13C>T c.2455-13C>T (n.2455-13C>T) c.2494-13C>T (n.2494-13C>T) c.1232-13C>T c.2482-13C>T (n.2482-13C>T) c.373-13C>T (n.373-13C>T) n.470-13C>T n.2095-13C>T c.1443-13C>T c.516-13C>T | gnomAD v4 |
| 12 | g.6593242C>A | CA2617296591 | CHD4 | c.2476-14G>T (n.2476-14G>T) c.2515-14G>T (n.2515-14G>T) c.2506-14G>T (n.2506-14G>T) c.2441-14G>T c.2455-14G>T (n.2455-14G>T) c.2494-14G>T (n.2494-14G>T) c.1232-14G>T c.2482-14G>T (n.2482-14G>T) c.373-14G>T (n.373-14G>T) n.470-14G>T n.2095-14G>T c.1443-14G>T c.516-14G>T | gnomAD v4 |
| 12 | g.6593243A>G | CA2575058115 | CHD4 | c.2476-15T>C (n.2476-15T>C) c.2515-15T>C (n.2515-15T>C) c.2506-15T>C (n.2506-15T>C) c.2441-15T>C c.2455-15T>C (n.2455-15T>C) c.2494-15T>C (n.2494-15T>C) c.1232-15T>C c.2482-15T>C (n.2482-15T>C) c.373-15T>C (n.373-15T>C) n.470-15T>C n.2095-15T>C c.1443-15T>C c.516-15T>C | |
| 12 | g.6593245C= | CA2014149294 | CHD4 | c.2476-17G= (n.2476-17G=) c.2515-17G= (n.2515-17G=) c.2506-17G= (n.2506-17G=) c.2441-17G= c.2455-17G= (n.2455-17G=) c.2494-17G= (n.2494-17G=) c.1232-17G= c.2482-17G= (n.2482-17G=) c.373-17G= (n.373-17G=) n.470-17G= n.2095-17G= c.1443-17G= c.516-17G= | |
| 12 | g.6593245C>T | CA2014149296 | CHD4 | c.2476-17G>A (n.2476-17G>A) c.2515-17G>A (n.2515-17G>A) c.2506-17G>A (n.2506-17G>A) c.2441-17G>A c.2455-17G>A (n.2455-17G>A) c.2494-17G>A (n.2494-17G>A) c.1232-17G>A c.2482-17G>A (n.2482-17G>A) c.373-17G>A (n.373-17G>A) n.470-17G>A n.2095-17G>A c.1443-17G>A c.516-17G>A | dbSNP gnomAD v4 |
| 12 | g.6593246T>C | CA6411947 | CHD4 | c.2476-18A>G (n.2476-18A>G) c.2515-18A>G (n.2515-18A>G) c.2506-18A>G (n.2506-18A>G) c.2441-18A>G c.2455-18A>G (n.2455-18A>G) c.2494-18A>G (n.2494-18A>G) c.1232-18A>G c.2482-18A>G (n.2482-18A>G) c.373-18A>G (n.373-18A>G) n.470-18A>G n.2095-18A>G c.1443-18A>G c.516-18A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593246T>G | CA2014149299 | CHD4 | c.2476-18A>C (n.2476-18A>C) c.2515-18A>C (n.2515-18A>C) c.2506-18A>C (n.2506-18A>C) c.2441-18A>C c.2455-18A>C (n.2455-18A>C) c.2494-18A>C (n.2494-18A>C) c.1232-18A>C c.2482-18A>C (n.2482-18A>C) c.373-18A>C (n.373-18A>C) n.470-18A>C n.2095-18A>C c.1443-18A>C c.516-18A>C | dbSNP |
| 12 | g.6593246T= | CA2014149297 | CHD4 | c.2476-18A= (n.2476-18A=) c.2515-18A= (n.2515-18A=) c.2506-18A= (n.2506-18A=) c.2441-18A= c.2455-18A= (n.2455-18A=) c.2494-18A= (n.2494-18A=) c.1232-18A= c.2482-18A= (n.2482-18A=) c.373-18A= (n.373-18A=) n.470-18A= n.2095-18A= c.1443-18A= c.516-18A= | |
| 12 | g.6593247T= | CA2014149300 | CHD4 | c.2476-19A= (n.2476-19A=) c.2515-19A= (n.2515-19A=) c.2506-19A= (n.2506-19A=) c.2441-19A= c.2455-19A= (n.2455-19A=) c.2494-19A= (n.2494-19A=) c.1232-19A= c.2482-19A= (n.2482-19A=) c.373-19A= (n.373-19A=) n.470-19A= n.2095-19A= c.1443-19A= c.516-19A= | |
| 12 | g.6593248G>A | CA691055180 | CHD4 | c.2476-20C>T (n.2476-20C>T) c.2515-20C>T (n.2515-20C>T) c.2506-20C>T (n.2506-20C>T) c.2441-20C>T c.2455-20C>T (n.2455-20C>T) c.2494-20C>T (n.2494-20C>T) c.1232-20C>T c.2482-20C>T (n.2482-20C>T) c.373-20C>T (n.373-20C>T) n.470-20C>T n.2095-20C>T c.1443-20C>T c.516-20C>T | dbSNP |
| 12 | g.6593248G>C | CA603485112 | CHD4 | c.2476-20C>G (n.2476-20C>G) c.2515-20C>G (n.2515-20C>G) c.2506-20C>G (n.2506-20C>G) c.2441-20C>G c.2455-20C>G (n.2455-20C>G) c.2494-20C>G (n.2494-20C>G) c.1232-20C>G c.2482-20C>G (n.2482-20C>G) c.373-20C>G (n.373-20C>G) n.470-20C>G n.2095-20C>G c.1443-20C>G c.516-20C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593248G= | CA2014149305 | CHD4 | c.2476-20C= (n.2476-20C=) c.2515-20C= (n.2515-20C=) c.2506-20C= (n.2506-20C=) c.2441-20C= c.2455-20C= (n.2455-20C=) c.2494-20C= (n.2494-20C=) c.1232-20C= c.2482-20C= (n.2482-20C=) c.373-20C= (n.373-20C=) n.470-20C= n.2095-20C= c.1443-20C= c.516-20C= | |
| 12 | g.6593249dup | CA691055187 | CHD4 | c.2476-20dup (n.2476-20dup) c.2515-20dup (n.2515-20dup) c.2506-20dup (n.2506-20dup) c.2441-20dup c.2455-20dup (n.2455-20dup) c.2494-20dup (n.2494-20dup) c.1232-20dup c.2482-20dup (n.2482-20dup) c.373-20dup (n.373-20dup) n.470-20dup n.2095-20dup c.1443-20dup c.516-20dup | dbSNP |
| 12 | g.6593248_6593258delinsGGTCACTACTA | CA2014149306 | CHD4 | c.2476-30_2476-20delinsTAGTAGTGACC (n.2476-30_2476-20delinsTAGTAGTGACC) c.2515-30_2515-20delinsTAGTAGTGACC (n.2515-30_2515-20delinsTAGTAGTGACC) c.2506-30_2506-20delinsTAGTAGTGACC (n.2506-30_2506-20delinsTAGTAGTGACC) c.2441-30_2441-20delinsTAGTAGTGACC c.2455-30_2455-20delinsTAGTAGTGACC (n.2455-30_2455-20delinsTAGTAGTGACC) c.2494-30_2494-20delinsTAGTAGTGACC (n.2494-30_2494-20delinsTAGTAGTGACC) c.1232-30_1232-20delinsTAGTAGTGACC c.2482-30_2482-20delinsTAGTAGTGACC (n.2482-30_2482-20delinsTAGTAGTGACC) c.373-30_373-20delinsTAGTAGTGACC (n.373-30_373-20delinsTAGTAGTGACC) n.470-30_470-20delinsTAGTAGTGACC n.2095-30_2095-20delinsTAGTAGTGACC c.1443-30_1443-20delinsTAGTAGTGACC c.516-30_516-20delinsTAGTAGTGACC | |
| 12 | g.6593249G>A | CA6411948 | CHD4 | c.2476-21C>T (n.2476-21C>T) c.2515-21C>T (n.2515-21C>T) c.2506-21C>T (n.2506-21C>T) c.2441-21C>T c.2455-21C>T (n.2455-21C>T) c.2494-21C>T (n.2494-21C>T) c.1232-21C>T c.2482-21C>T (n.2482-21C>T) c.373-21C>T (n.373-21C>T) n.470-21C>T n.2095-21C>T c.1443-21C>T c.516-21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593249G= | CA2014149311 | CHD4 | c.2476-21C= (n.2476-21C=) c.2515-21C= (n.2515-21C=) c.2506-21C= (n.2506-21C=) c.2441-21C= c.2455-21C= (n.2455-21C=) c.2494-21C= (n.2494-21C=) c.1232-21C= c.2482-21C= (n.2482-21C=) c.373-21C= (n.373-21C=) n.470-21C= n.2095-21C= c.1443-21C= c.516-21C= | |
| 12 | g.6593253_6593262del | CA691055190 | CHD4 | c.2476-30_2476-21del (n.2476-30_2476-21del) c.2515-30_2515-21del (n.2515-30_2515-21del) c.2506-30_2506-21del (n.2506-30_2506-21del) c.2441-30_2441-21del c.2455-30_2455-21del (n.2455-30_2455-21del) c.2494-30_2494-21del (n.2494-30_2494-21del) c.1232-30_1232-21del c.2482-30_2482-21del (n.2482-30_2482-21del) c.373-30_373-21del (n.373-30_373-21del) n.470-30_470-21del n.2095-30_2095-21del c.1443-30_1443-21del c.516-30_516-21del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593251C>T | CA2617296592 | CHD4 | c.2476-23G>A (n.2476-23G>A) c.2515-23G>A (n.2515-23G>A) c.2506-23G>A (n.2506-23G>A) c.2441-23G>A c.2455-23G>A (n.2455-23G>A) c.2494-23G>A (n.2494-23G>A) c.1232-23G>A c.2482-23G>A (n.2482-23G>A) c.373-23G>A (n.373-23G>A) n.470-23G>A n.2095-23G>A c.1443-23G>A c.516-23G>A | gnomAD v4 |
| 12 | g.6593252_6593253delinsAC | CA2014149314 | CHD4 | c.2476-25_2476-24delinsGT (n.2476-25_2476-24delinsGT) c.2515-25_2515-24delinsGT (n.2515-25_2515-24delinsGT) c.2506-25_2506-24delinsGT (n.2506-25_2506-24delinsGT) c.2441-25_2441-24delinsGT c.2455-25_2455-24delinsGT (n.2455-25_2455-24delinsGT) c.2494-25_2494-24delinsGT (n.2494-25_2494-24delinsGT) c.1232-25_1232-24delinsGT c.2482-25_2482-24delinsGT (n.2482-25_2482-24delinsGT) c.373-25_373-24delinsGT (n.373-25_373-24delinsGT) n.470-25_470-24delinsGT n.2095-25_2095-24delinsGT c.1443-25_1443-24delinsGT c.516-25_516-24delinsGT | |
| 12 | g.6593253del | CA603485113 | CHD4 | c.2476-25del (n.2476-25del) c.2515-25del (n.2515-25del) c.2506-25del (n.2506-25del) c.2441-25del c.2455-25del (n.2455-25del) c.2494-25del (n.2494-25del) c.1232-25del c.2482-25del (n.2482-25del) c.373-25del (n.373-25del) n.470-25del n.2095-25del c.1443-25del c.516-25del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593253C= | CA2014149317 | CHD4 | c.2476-25G= (n.2476-25G=) c.2515-25G= (n.2515-25G=) c.2506-25G= (n.2506-25G=) c.2441-25G= c.2455-25G= (n.2455-25G=) c.2494-25G= (n.2494-25G=) c.1232-25G= c.2482-25G= (n.2482-25G=) c.373-25G= (n.373-25G=) n.470-25G= n.2095-25G= c.1443-25G= c.516-25G= | |
| 12 | g.6593253C>T | CA232392927 | CHD4 | c.2476-25G>A (n.2476-25G>A) c.2515-25G>A (n.2515-25G>A) c.2506-25G>A (n.2506-25G>A) c.2441-25G>A c.2455-25G>A (n.2455-25G>A) c.2494-25G>A (n.2494-25G>A) c.1232-25G>A c.2482-25G>A (n.2482-25G>A) c.373-25G>A (n.373-25G>A) n.470-25G>A n.2095-25G>A c.1443-25G>A c.516-25G>A | dbSNP |
| 12 | g.6593254T>A | CA2617296593 | CHD4 | c.2476-26A>T (n.2476-26A>T) c.2515-26A>T (n.2515-26A>T) c.2506-26A>T (n.2506-26A>T) c.2441-26A>T c.2455-26A>T (n.2455-26A>T) c.2494-26A>T (n.2494-26A>T) c.1232-26A>T c.2482-26A>T (n.2482-26A>T) c.373-26A>T (n.373-26A>T) n.470-26A>T n.2095-26A>T c.1443-26A>T c.516-26A>T | gnomAD v4 |
| 12 | g.6593254T>C | CA232392937 | CHD4 | c.2476-26A>G (n.2476-26A>G) c.2515-26A>G (n.2515-26A>G) c.2506-26A>G (n.2506-26A>G) c.2441-26A>G c.2455-26A>G (n.2455-26A>G) c.2494-26A>G (n.2494-26A>G) c.1232-26A>G c.2482-26A>G (n.2482-26A>G) c.373-26A>G (n.373-26A>G) n.470-26A>G n.2095-26A>G c.1443-26A>G c.516-26A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593254T= | CA2014149322 | CHD4 | c.2476-26A= (n.2476-26A=) c.2515-26A= (n.2515-26A=) c.2506-26A= (n.2506-26A=) c.2441-26A= c.2455-26A= (n.2455-26A=) c.2494-26A= (n.2494-26A=) c.1232-26A= c.2482-26A= (n.2482-26A=) c.373-26A= (n.373-26A=) n.470-26A= n.2095-26A= c.1443-26A= c.516-26A= | |
| 12 | g.6593254_6593255dup | CA603485114 | CHD4 | c.2476-27_2476-26dup (n.2476-27_2476-26dup) c.2515-27_2515-26dup (n.2515-27_2515-26dup) c.2506-27_2506-26dup (n.2506-27_2506-26dup) c.2441-27_2441-26dup c.2455-27_2455-26dup (n.2455-27_2455-26dup) c.2494-27_2494-26dup (n.2494-27_2494-26dup) c.1232-27_1232-26dup c.2482-27_2482-26dup (n.2482-27_2482-26dup) c.373-27_373-26dup (n.373-27_373-26dup) n.470-27_470-26dup n.2095-27_2095-26dup c.1443-27_1443-26dup c.516-27_516-26dup | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593255A= | CA2014149327 | CHD4 | c.2476-27T= (n.2476-27T=) c.2515-27T= (n.2515-27T=) c.2506-27T= (n.2506-27T=) c.2441-27T= c.2455-27T= (n.2455-27T=) c.2494-27T= (n.2494-27T=) c.1232-27T= c.2482-27T= (n.2482-27T=) c.373-27T= (n.373-27T=) n.470-27T= n.2095-27T= c.1443-27T= c.516-27T= | |
| 12 | g.6593255A>G | CA2014149326 | CHD4 | c.2476-27T>C (n.2476-27T>C) c.2515-27T>C (n.2515-27T>C) c.2506-27T>C (n.2506-27T>C) c.2441-27T>C c.2455-27T>C (n.2455-27T>C) c.2494-27T>C (n.2494-27T>C) c.1232-27T>C c.2482-27T>C (n.2482-27T>C) c.373-27T>C (n.373-27T>C) n.470-27T>C n.2095-27T>C c.1443-27T>C c.516-27T>C | dbSNP |
| 12 | g.6593256C>G | CA2617296594 | CHD4 | c.2476-28G>C (n.2476-28G>C) c.2515-28G>C (n.2515-28G>C) c.2506-28G>C (n.2506-28G>C) c.2441-28G>C c.2455-28G>C (n.2455-28G>C) c.2494-28G>C (n.2494-28G>C) c.1232-28G>C c.2482-28G>C (n.2482-28G>C) c.373-28G>C (n.373-28G>C) n.470-28G>C n.2095-28G>C c.1443-28G>C c.516-28G>C | gnomAD v4 |