Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6593455_6593462delinsGTCTTCAA | CA2014149532 | CHD4 | c.2429_2436delinsTTGAAGAC (p.Phe810=) c.2468_2475delinsTTGAAGAC (p.Phe823=) c.2459_2466delinsTTGAAGAC (p.Phe820=) c.2394_2401delinsTTGAAGAC c.2408_2415delinsTTGAAGAC (p.Phe803=) c.2447_2454delinsTTGAAGAC (p.Phe816=) c.1185_1192delinsTTGAAGAC c.2435_2442delinsTTGAAGAC (p.Phe812=) c.326_333delinsTTGAAGAC (p.Phe109=) n.423_430delinsTTGAAGAC n.2048_2055delinsTTGAAGAC c.1396_1403delinsTTGAAGAC c.469_476delinsTTGAAGAC | |
12 | g.6593456_6593462del | CA6411961 | CHD4 | c.2429_2435del (p.Phe810SerfsTer13) c.2468_2474del (p.Phe823SerfsTer13) c.2459_2465del (p.Phe820SerfsTer13) c.2394_2400del c.2408_2414del (p.Phe803SerfsTer13) c.2447_2453del (p.Phe816SerfsTer13) c.1185_1191del c.2435_2441del (p.Phe812SerfsTer13) c.326_332del (p.Phe109SerfsTer13) n.423_429del n.2048_2054del c.1396_1402del c.469_475del | dbSNP ExAC |
12 | g.6593462A>C | CA383593022 | CHD4 | c.2429T>G (p.Phe810Cys) c.2468T>G (p.Phe823Cys) c.2459T>G (p.Phe820Cys) c.2394T>G c.2408T>G (p.Phe803Cys) c.2447T>G (p.Phe816Cys) c.1185T>G c.2435T>G (p.Phe812Cys) c.326T>G (p.Phe109Cys) n.423T>G n.2048T>G c.1396T>G c.469T>G | |
12 | g.6593462A>G | CA383593029 | CHD4 | c.2429T>C (p.Phe810Ser) c.2468T>C (p.Phe823Ser) c.2459T>C (p.Phe820Ser) c.2394T>C c.2408T>C (p.Phe803Ser) c.2447T>C (p.Phe816Ser) c.1185T>C c.2435T>C (p.Phe812Ser) c.326T>C (p.Phe109Ser) n.423T>C n.2048T>C c.1396T>C c.469T>C | |
12 | g.6593462A>T | CA383593031 | CHD4 | c.2429T>A (p.Phe810Tyr) c.2468T>A (p.Phe823Tyr) c.2459T>A (p.Phe820Tyr) c.2394T>A c.2408T>A (p.Phe803Tyr) c.2447T>A (p.Phe816Tyr) c.1185T>A c.2435T>A (p.Phe812Tyr) c.326T>A (p.Phe109Tyr) n.423T>A n.2048T>A c.1396T>A c.469T>A | |
12 | g.6593463A>C | CA383593043 | CHD4 | c.2428T>G (p.Phe810Val) c.2467T>G (p.Phe823Val) c.2458T>G (p.Phe820Val) c.2393T>G c.2407T>G (p.Phe803Val) c.2446T>G (p.Phe816Val) c.1184T>G c.2434T>G (p.Phe812Val) c.325T>G (p.Phe109Val) n.422T>G n.2047T>G c.1395T>G c.468T>G | |
12 | g.6593463A>G | CA383593050 | CHD4 | c.2428T>C (p.Phe810Leu) c.2467T>C (p.Phe823Leu) c.2458T>C (p.Phe820Leu) c.2393T>C c.2407T>C (p.Phe803Leu) c.2446T>C (p.Phe816Leu) c.1184T>C c.2434T>C (p.Phe812Leu) c.325T>C (p.Phe109Leu) n.422T>C n.2047T>C c.1395T>C c.468T>C | |
12 | g.6593463A>T | CA383593051 | CHD4 | c.2428T>A (p.Phe810Ile) c.2467T>A (p.Phe823Ile) c.2458T>A (p.Phe820Ile) c.2393T>A c.2407T>A (p.Phe803Ile) c.2446T>A (p.Phe816Ile) c.1184T>A c.2434T>A (p.Phe812Ile) c.325T>A (p.Phe109Ile) n.422T>A n.2047T>A c.1395T>A c.468T>A | |
12 | g.6593464G>A | CA478132755 | CHD4 | c.2427C>T (p.Ser809=) c.2466C>T (p.Ser822=) c.2457C>T (p.Ser819=) c.2392C>T c.2406C>T (p.Ser802=) c.2445C>T (p.Ser815=) c.1183C>T c.2433C>T (p.Ser811=) c.324C>T (p.Ser108=) n.421C>T n.2046C>T c.1394C>T c.467C>T | dbSNP gnomAD v4 |
12 | g.6593464G>C | CA478132756 | CHD4 | c.2427C>G (p.Ser809=) c.2466C>G (p.Ser822=) c.2457C>G (p.Ser819=) c.2392C>G c.2406C>G (p.Ser802=) c.2445C>G (p.Ser815=) c.1183C>G c.2433C>G (p.Ser811=) c.324C>G (p.Ser108=) n.421C>G n.2046C>G c.1394C>G c.467C>G | |
12 | g.6593464G= | CA2014149535 | CHD4 | c.2427C= (p.Ser809=) c.2466C= (p.Ser822=) c.2457C= (p.Ser819=) c.2392C= c.2406C= (p.Ser802=) c.2445C= (p.Ser815=) c.1183C= c.2433C= (p.Ser811=) c.324C= (p.Ser108=) n.421C= n.2046C= c.1394C= c.467C= | |
12 | g.6593464G>T | CA478132757 | CHD4 | c.2427C>A (p.Ser809=) c.2466C>A (p.Ser822=) c.2457C>A (p.Ser819=) c.2392C>A c.2406C>A (p.Ser802=) c.2445C>A (p.Ser815=) c.1183C>A c.2433C>A (p.Ser811=) c.324C>A (p.Ser108=) n.421C>A n.2046C>A c.1394C>A c.467C>A | |
12 | g.6593465G>A | CA383593053 | CHD4 | c.2426C>T (p.Ser809Phe) c.2465C>T (p.Ser822Phe) c.2456C>T (p.Ser819Phe) c.2391C>T c.2405C>T (p.Ser802Phe) c.2444C>T (p.Ser815Phe) c.1182C>T c.2432C>T (p.Ser811Phe) c.323C>T (p.Ser108Phe) n.420C>T n.2045C>T c.1393C>T c.466C>T | gnomAD v4 |
12 | g.6593465G>C | CA383593054 | CHD4 | c.2426C>G (p.Ser809Cys) c.2465C>G (p.Ser822Cys) c.2456C>G (p.Ser819Cys) c.2391C>G c.2405C>G (p.Ser802Cys) c.2444C>G (p.Ser815Cys) c.1182C>G c.2432C>G (p.Ser811Cys) c.323C>G (p.Ser108Cys) n.420C>G n.2045C>G c.1393C>G c.466C>G | |
12 | g.6593465G>T | CA383593056 | CHD4 | c.2426C>A (p.Ser809Tyr) c.2465C>A (p.Ser822Tyr) c.2456C>A (p.Ser819Tyr) c.2391C>A c.2405C>A (p.Ser802Tyr) c.2444C>A (p.Ser815Tyr) c.1182C>A c.2432C>A (p.Ser811Tyr) c.323C>A (p.Ser108Tyr) n.420C>A n.2045C>A c.1393C>A c.466C>A | |
12 | g.6593466A>C | CA383593063 | CHD4 | c.2425T>G (p.Ser809Ala) c.2464T>G (p.Ser822Ala) c.2455T>G (p.Ser819Ala) c.2390T>G c.2404T>G (p.Ser802Ala) c.2443T>G (p.Ser815Ala) c.1181T>G c.2431T>G (p.Ser811Ala) c.322T>G (p.Ser108Ala) n.419T>G n.2044T>G c.1392T>G c.465T>G | |
12 | g.6593466A>G | CA383593065 | CHD4 | c.2425T>C (p.Ser809Pro) c.2464T>C (p.Ser822Pro) c.2455T>C (p.Ser819Pro) c.2390T>C c.2404T>C (p.Ser802Pro) c.2443T>C (p.Ser815Pro) c.1181T>C c.2431T>C (p.Ser811Pro) c.322T>C (p.Ser108Pro) n.419T>C n.2044T>C c.1392T>C c.465T>C | |
12 | g.6593466A>T | CA383593068 | CHD4 | c.2425T>A (p.Ser809Thr) c.2464T>A (p.Ser822Thr) c.2455T>A (p.Ser819Thr) c.2390T>A c.2404T>A (p.Ser802Thr) c.2443T>A (p.Ser815Thr) c.1181T>A c.2431T>A (p.Ser811Thr) c.322T>A (p.Ser108Thr) n.419T>A n.2044T>A c.1392T>A c.465T>A | |
12 | g.6593466_6593495delinsAGAACTCATTCTCTCGGATGATGGCACGGC | CA2014149538 | CHD4 | c.2396_2425delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser799=) c.2435_2464delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser812=) c.2426_2455delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser809=) c.2361_2390delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT c.2375_2404delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser792=) c.2414_2443delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser805=) c.1152_1181delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT c.2402_2431delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser801=) c.293_322delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT (p.Ser98=) n.390_419delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT n.2015_2044delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT c.1363_1392delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT c.436_465delinsGCCGTGCCATCATCCGAGAGAATGAGTTCT | |
12 | g.6593467G>A | CA6411963 | CHD4 | c.2424C>T (p.Phe808=) c.2463C>T (p.Phe821=) c.2454C>T (p.Phe818=) c.2389C>T c.2403C>T (p.Phe801=) c.2442C>T (p.Phe814=) c.1180C>T c.2430C>T (p.Phe810=) c.321C>T (p.Phe107=) n.418C>T n.2043C>T c.1391C>T c.464C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6593467G>C | CA383593072 | CHD4 | c.2424C>G (p.Phe808Leu) c.2463C>G (p.Phe821Leu) c.2454C>G (p.Phe818Leu) c.2389C>G c.2403C>G (p.Phe801Leu) c.2442C>G (p.Phe814Leu) c.1180C>G c.2430C>G (p.Phe810Leu) c.321C>G (p.Phe107Leu) n.418C>G n.2043C>G c.1391C>G c.464C>G | gnomAD v4 |
12 | g.6593467G= | CA2014149543 | CHD4 | c.2424C= (p.Phe808=) c.2463C= (p.Phe821=) c.2454C= (p.Phe818=) c.2389C= c.2403C= (p.Phe801=) c.2442C= (p.Phe814=) c.1180C= c.2430C= (p.Phe810=) c.321C= (p.Phe107=) n.418C= n.2043C= c.1391C= c.464C= | |
12 | g.6593467G>T | CA383593076 | CHD4 | c.2424C>A (p.Phe808Leu) c.2463C>A (p.Phe821Leu) c.2454C>A (p.Phe818Leu) c.2389C>A c.2403C>A (p.Phe801Leu) c.2442C>A (p.Phe814Leu) c.1180C>A c.2430C>A (p.Phe810Leu) c.321C>A (p.Phe107Leu) n.418C>A n.2043C>A c.1391C>A c.464C>A | |
12 | g.6593467_6593495del | CA6411962 | CHD4 | c.2396_2424del (p.Ser799IlefsTer3) c.2435_2463del (p.Ser812IlefsTer3) c.2426_2454del (p.Ser809IlefsTer3) c.2361_2389del c.2375_2403del (p.Ser792IlefsTer3) c.2414_2442del (p.Ser805IlefsTer3) c.1152_1180del c.2402_2430del (p.Ser801IlefsTer3) c.293_321del (p.Ser98IlefsTer3) n.390_418del n.2015_2043del c.1363_1391del c.436_464del | dbSNP ExAC |
12 | g.6593468A>C | CA383593077 | CHD4 | c.2423T>G (p.Phe808Cys) c.2462T>G (p.Phe821Cys) c.2453T>G (p.Phe818Cys) c.2388T>G c.2402T>G (p.Phe801Cys) c.2441T>G (p.Phe814Cys) c.1179T>G c.2429T>G (p.Phe810Cys) c.320T>G (p.Phe107Cys) n.417T>G n.2042T>G c.1390T>G c.463T>G | |
12 | g.6593468A>G | CA383593080 | CHD4 | c.2423T>C (p.Phe808Ser) c.2462T>C (p.Phe821Ser) c.2453T>C (p.Phe818Ser) c.2388T>C c.2402T>C (p.Phe801Ser) c.2441T>C (p.Phe814Ser) c.1179T>C c.2429T>C (p.Phe810Ser) c.320T>C (p.Phe107Ser) n.417T>C n.2042T>C c.1390T>C c.463T>C | |
12 | g.6593468A>T | CA383593081 | CHD4 | c.2423T>A (p.Phe808Tyr) c.2462T>A (p.Phe821Tyr) c.2453T>A (p.Phe818Tyr) c.2388T>A c.2402T>A (p.Phe801Tyr) c.2441T>A (p.Phe814Tyr) c.1179T>A c.2429T>A (p.Phe810Tyr) c.320T>A (p.Phe107Tyr) n.417T>A n.2042T>A c.1390T>A c.463T>A | |
12 | g.6593469A>C | CA383593084 | CHD4 | c.2422T>G (p.Phe808Val) c.2461T>G (p.Phe821Val) c.2452T>G (p.Phe818Val) c.2387T>G c.2401T>G (p.Phe801Val) c.2440T>G (p.Phe814Val) c.1178T>G c.2428T>G (p.Phe810Val) c.319T>G (p.Phe107Val) n.416T>G n.2041T>G c.1389T>G c.462T>G | ClinVar |
12 | g.6593469A>G | CA383593086 | CHD4 | c.2422T>C (p.Phe808Leu) c.2461T>C (p.Phe821Leu) c.2452T>C (p.Phe818Leu) c.2387T>C c.2401T>C (p.Phe801Leu) c.2440T>C (p.Phe814Leu) c.1178T>C c.2428T>C (p.Phe810Leu) c.319T>C (p.Phe107Leu) n.416T>C n.2041T>C c.1389T>C c.462T>C | |
12 | g.6593469A>T | CA383593088 | CHD4 | c.2422T>A (p.Phe808Ile) c.2461T>A (p.Phe821Ile) c.2452T>A (p.Phe818Ile) c.2387T>A c.2401T>A (p.Phe801Ile) c.2440T>A (p.Phe814Ile) c.1178T>A c.2428T>A (p.Phe810Ile) c.319T>A (p.Phe107Ile) n.416T>A n.2041T>A c.1389T>A c.462T>A | |
12 | g.6593470C>A | CA383593092 | CHD4 | c.2421G>T (p.Glu807Asp) c.2460G>T (p.Glu820Asp) c.2451G>T (p.Glu817Asp) c.2386G>T c.2400G>T (p.Glu800Asp) c.2439G>T (p.Glu813Asp) c.1177G>T c.2427G>T (p.Glu809Asp) c.318G>T (p.Glu106Asp) n.415G>T n.2040G>T c.1388G>T c.461G>T | |
12 | g.6593470C>G | CA383593102 | CHD4 | c.2421G>C (p.Glu807Asp) c.2460G>C (p.Glu820Asp) c.2451G>C (p.Glu817Asp) c.2386G>C c.2400G>C (p.Glu800Asp) c.2439G>C (p.Glu813Asp) c.1177G>C c.2427G>C (p.Glu809Asp) c.318G>C (p.Glu106Asp) n.415G>C n.2040G>C c.1388G>C c.461G>C | ClinVar |
12 | g.6593470C>T | CA478132779 | CHD4 | c.2421G>A (p.Glu807=) c.2460G>A (p.Glu820=) c.2451G>A (p.Glu817=) c.2386G>A c.2400G>A (p.Glu800=) c.2439G>A (p.Glu813=) c.1177G>A c.2427G>A (p.Glu809=) c.318G>A (p.Glu106=) n.415G>A n.2040G>A c.1388G>A c.461G>A | |
12 | g.6593471T>A | CA383593111 | CHD4 | c.2420A>T (p.Glu807Val) c.2459A>T (p.Glu820Val) c.2450A>T (p.Glu817Val) c.2385A>T c.2399A>T (p.Glu800Val) c.2438A>T (p.Glu813Val) c.1176A>T c.2426A>T (p.Glu809Val) c.317A>T (p.Glu106Val) n.414A>T n.2039A>T c.1387A>T c.460A>T | |
12 | g.6593471T>C | CA383593117 | CHD4 | c.2420A>G (p.Glu807Gly) c.2459A>G (p.Glu820Gly) c.2450A>G (p.Glu817Gly) c.2385A>G c.2399A>G (p.Glu800Gly) c.2438A>G (p.Glu813Gly) c.1176A>G c.2426A>G (p.Glu809Gly) c.317A>G (p.Glu106Gly) n.414A>G n.2039A>G c.1387A>G c.460A>G | |
12 | g.6593471T>G | CA383593119 | CHD4 | c.2420A>C (p.Glu807Ala) c.2459A>C (p.Glu820Ala) c.2450A>C (p.Glu817Ala) c.2385A>C c.2399A>C (p.Glu800Ala) c.2438A>C (p.Glu813Ala) c.1176A>C c.2426A>C (p.Glu809Ala) c.317A>C (p.Glu106Ala) n.414A>C n.2039A>C c.1387A>C c.460A>C | |
12 | g.6593472C>A | CA383593126 | CHD4 | c.2419G>T (p.Glu807Ter) c.2458G>T (p.Glu820Ter) c.2449G>T (p.Glu817Ter) c.2384G>T c.2398G>T (p.Glu800Ter) c.2437G>T (p.Glu813Ter) c.1175G>T c.2425G>T (p.Glu809Ter) c.316G>T (p.Glu106Ter) n.413G>T n.2038G>T c.1386G>T c.459G>T | |
12 | g.6593472C>G | CA383593124 | CHD4 | c.2419G>C (p.Glu807Gln) c.2458G>C (p.Glu820Gln) c.2449G>C (p.Glu817Gln) c.2384G>C c.2398G>C (p.Glu800Gln) c.2437G>C (p.Glu813Gln) c.1175G>C c.2425G>C (p.Glu809Gln) c.316G>C (p.Glu106Gln) n.413G>C n.2038G>C c.1386G>C c.459G>C | |
12 | g.6593472C>T | CA383593122 | CHD4 | c.2419G>A (p.Glu807Lys) c.2458G>A (p.Glu820Lys) c.2449G>A (p.Glu817Lys) c.2384G>A c.2398G>A (p.Glu800Lys) c.2437G>A (p.Glu813Lys) c.1175G>A c.2425G>A (p.Glu809Lys) c.316G>A (p.Glu106Lys) n.413G>A n.2038G>A c.1386G>A c.459G>A | COSMIC COSMIC COSMIC |
12 | g.6593473A>C | CA383593132 | CHD4 | c.2418T>G (p.Asn806Lys) c.2457T>G (p.Asn819Lys) c.2448T>G (p.Asn816Lys) c.2383T>G c.2397T>G (p.Asn799Lys) c.2436T>G (p.Asn812Lys) c.1174T>G c.2424T>G (p.Asn808Lys) c.315T>G (p.Asn105Lys) n.412T>G n.2037T>G c.1385T>G c.458T>G | |
12 | g.6593473A>G | CA478132791 | CHD4 | c.2418T>C (p.Asn806=) c.2457T>C (p.Asn819=) c.2448T>C (p.Asn816=) c.2383T>C c.2397T>C (p.Asn799=) c.2436T>C (p.Asn812=) c.1174T>C c.2424T>C (p.Asn808=) c.315T>C (p.Asn105=) n.412T>C n.2037T>C c.1385T>C c.458T>C | |
12 | g.6593473A>T | CA383593129 | CHD4 | c.2418T>A (p.Asn806Lys) c.2457T>A (p.Asn819Lys) c.2448T>A (p.Asn816Lys) c.2383T>A c.2397T>A (p.Asn799Lys) c.2436T>A (p.Asn812Lys) c.1174T>A c.2424T>A (p.Asn808Lys) c.315T>A (p.Asn105Lys) n.412T>A n.2037T>A c.1385T>A c.458T>A | |
12 | g.6593474T>A | CA383593135 | CHD4 | c.2417A>T (p.Asn806Ile) c.2456A>T (p.Asn819Ile) c.2447A>T (p.Asn816Ile) c.2382A>T c.2396A>T (p.Asn799Ile) c.2435A>T (p.Asn812Ile) c.1173A>T c.2423A>T (p.Asn808Ile) c.314A>T (p.Asn105Ile) n.411A>T n.2036A>T c.1384A>T c.457A>T | |
12 | g.6593474T>C | CA383593136 | CHD4 | c.2417A>G (p.Asn806Ser) c.2456A>G (p.Asn819Ser) c.2447A>G (p.Asn816Ser) c.2382A>G c.2396A>G (p.Asn799Ser) c.2435A>G (p.Asn812Ser) c.1173A>G c.2423A>G (p.Asn808Ser) c.314A>G (p.Asn105Ser) n.411A>G n.2036A>G c.1384A>G c.457A>G | |
12 | g.6593474T>G | CA383593137 | CHD4 | c.2417A>C (p.Asn806Thr) c.2456A>C (p.Asn819Thr) c.2447A>C (p.Asn816Thr) c.2382A>C c.2396A>C (p.Asn799Thr) c.2435A>C (p.Asn812Thr) c.1173A>C c.2423A>C (p.Asn808Thr) c.314A>C (p.Asn105Thr) n.411A>C n.2036A>C c.1384A>C c.457A>C | |
12 | g.6593475T>A | CA383593140 | CHD4 | c.2416A>T (p.Asn806Tyr) c.2455A>T (p.Asn819Tyr) c.2446A>T (p.Asn816Tyr) c.2381A>T c.2395A>T (p.Asn799Tyr) c.2434A>T (p.Asn812Tyr) c.1172A>T c.2422A>T (p.Asn808Tyr) c.313A>T (p.Asn105Tyr) n.410A>T n.2035A>T c.1383A>T c.456A>T | |
12 | g.6593475T>C | CA383593141 | CHD4 | c.2416A>G (p.Asn806Asp) c.2455A>G (p.Asn819Asp) c.2446A>G (p.Asn816Asp) c.2381A>G c.2395A>G (p.Asn799Asp) c.2434A>G (p.Asn812Asp) c.1172A>G c.2422A>G (p.Asn808Asp) c.313A>G (p.Asn105Asp) n.410A>G n.2035A>G c.1383A>G c.456A>G | |
12 | g.6593475T>G | CA383593146 | CHD4 | c.2416A>C (p.Asn806His) c.2455A>C (p.Asn819His) c.2446A>C (p.Asn816His) c.2381A>C c.2395A>C (p.Asn799His) c.2434A>C (p.Asn812His) c.1172A>C c.2422A>C (p.Asn808His) c.313A>C (p.Asn105His) n.410A>C n.2035A>C c.1383A>C c.456A>C | gnomAD v4 |
12 | g.6593476C>A | CA383593150 | CHD4 | c.2415G>T (p.Glu805Asp) c.2454G>T (p.Glu818Asp) c.2445G>T (p.Glu815Asp) c.2380G>T c.2394G>T (p.Glu798Asp) c.2433G>T (p.Glu811Asp) c.1171G>T c.2421G>T (p.Glu807Asp) c.312G>T (p.Glu104Asp) n.409G>T n.2034G>T c.1382G>T c.455G>T | gnomAD v4 |
12 | g.6593476C= | CA2014149545 | CHD4 | c.2415G= (p.Glu805=) c.2454G= (p.Glu818=) c.2445G= (p.Glu815=) c.2380G= c.2394G= (p.Glu798=) c.2433G= (p.Glu811=) c.1171G= c.2421G= (p.Glu807=) c.312G= (p.Glu104=) n.409G= n.2034G= c.1382G= c.455G= | |
12 | g.6593476C>G | CA383593152 | CHD4 | c.2415G>C (p.Glu805Asp) c.2454G>C (p.Glu818Asp) c.2445G>C (p.Glu815Asp) c.2380G>C c.2394G>C (p.Glu798Asp) c.2433G>C (p.Glu811Asp) c.1171G>C c.2421G>C (p.Glu807Asp) c.312G>C (p.Glu104Asp) n.409G>C n.2034G>C c.1382G>C c.455G>C | gnomAD v4 |
12 | g.6593476C>T | CA6411964 | CHD4 | c.2415G>A (p.Glu805=) c.2454G>A (p.Glu818=) c.2445G>A (p.Glu815=) c.2380G>A c.2394G>A (p.Glu798=) c.2433G>A (p.Glu811=) c.1171G>A c.2421G>A (p.Glu807=) c.312G>A (p.Glu104=) n.409G>A n.2034G>A c.1382G>A c.455G>A | dbSNP ExAC |
12 | g.6593477T>A | CA383593157 | CHD4 | c.2414A>T (p.Glu805Val) c.2453A>T (p.Glu818Val) c.2444A>T (p.Glu815Val) c.2379A>T c.2393A>T (p.Glu798Val) c.2432A>T (p.Glu811Val) c.1170A>T c.2420A>T (p.Glu807Val) c.311A>T (p.Glu104Val) n.408A>T n.2033A>T c.1381A>T c.454A>T | |
12 | g.6593477T>C | CA383593161 | CHD4 | c.2414A>G (p.Glu805Gly) c.2453A>G (p.Glu818Gly) c.2444A>G (p.Glu815Gly) c.2379A>G c.2393A>G (p.Glu798Gly) c.2432A>G (p.Glu811Gly) c.1170A>G c.2420A>G (p.Glu807Gly) c.311A>G (p.Glu104Gly) n.408A>G n.2033A>G c.1381A>G c.454A>G | |
12 | g.6593477T>G | CA383593163 | CHD4 | c.2414A>C (p.Glu805Ala) c.2453A>C (p.Glu818Ala) c.2444A>C (p.Glu815Ala) c.2379A>C c.2393A>C (p.Glu798Ala) c.2432A>C (p.Glu811Ala) c.1170A>C c.2420A>C (p.Glu807Ala) c.311A>C (p.Glu104Ala) n.408A>C n.2033A>C c.1381A>C c.454A>C | dbSNP |
12 | g.6593477T= | CA2014149547 | CHD4 | c.2414A= (p.Glu805=) c.2453A= (p.Glu818=) c.2444A= (p.Glu815=) c.2379A= c.2393A= (p.Glu798=) c.2432A= (p.Glu811=) c.1170A= c.2420A= (p.Glu807=) c.311A= (p.Glu104=) n.408A= n.2033A= c.1381A= c.454A= | |
12 | g.6593478C>A | CA383593166 | CHD4 | c.2413G>T (p.Glu805Ter) c.2452G>T (p.Glu818Ter) c.2443G>T (p.Glu815Ter) c.2378G>T c.2392G>T (p.Glu798Ter) c.2431G>T (p.Glu811Ter) c.1169G>T c.2419G>T (p.Glu807Ter) c.310G>T (p.Glu104Ter) n.407G>T n.2032G>T c.1380G>T c.453G>T | dbSNP |
12 | g.6593478C= | CA2014149551 | CHD4 | c.2413G= (p.Glu805=) c.2452G= (p.Glu818=) c.2443G= (p.Glu815=) c.2378G= c.2392G= (p.Glu798=) c.2431G= (p.Glu811=) c.1169G= c.2419G= (p.Glu807=) c.310G= (p.Glu104=) n.407G= n.2032G= c.1380G= c.453G= | |
12 | g.6593478C>G | CA383593164 | CHD4 | c.2413G>C (p.Glu805Gln) c.2452G>C (p.Glu818Gln) c.2443G>C (p.Glu815Gln) c.2378G>C c.2392G>C (p.Glu798Gln) c.2431G>C (p.Glu811Gln) c.1169G>C c.2419G>C (p.Glu807Gln) c.310G>C (p.Glu104Gln) n.407G>C n.2032G>C c.1380G>C c.453G>C | gnomAD v4 |
12 | g.6593478C>T | CA383593165 | CHD4 | c.2413G>A (p.Glu805Lys) c.2452G>A (p.Glu818Lys) c.2443G>A (p.Glu815Lys) c.2378G>A c.2392G>A (p.Glu798Lys) c.2431G>A (p.Glu811Lys) c.1169G>A c.2419G>A (p.Glu807Lys) c.310G>A (p.Glu104Lys) n.407G>A n.2032G>A c.1380G>A c.453G>A | |
12 | g.6593479T>A | CA478132811 | CHD4 | c.2412A>T (p.Arg804=) c.2451A>T (p.Arg817=) c.2442A>T (p.Arg814=) c.2377A>T c.2391A>T (p.Arg797=) c.2430A>T (p.Arg810=) c.1168A>T c.2418A>T (p.Arg806=) c.309A>T (p.Arg103=) n.406A>T n.2031A>T c.1379A>T c.452A>T | |
12 | g.6593479T>C | CA478132814 | CHD4 | c.2412A>G (p.Arg804=) c.2451A>G (p.Arg817=) c.2442A>G (p.Arg814=) c.2377A>G c.2391A>G (p.Arg797=) c.2430A>G (p.Arg810=) c.1168A>G c.2418A>G (p.Arg806=) c.309A>G (p.Arg103=) n.406A>G n.2031A>G c.1379A>G c.452A>G | |
12 | g.6593479T>G | CA478132817 | CHD4 | c.2412A>C (p.Arg804=) c.2451A>C (p.Arg817=) c.2442A>C (p.Arg814=) c.2377A>C c.2391A>C (p.Arg797=) c.2430A>C (p.Arg810=) c.1168A>C c.2418A>C (p.Arg806=) c.309A>C (p.Arg103=) n.406A>C n.2031A>C c.1379A>C c.452A>C | |
12 | g.6593480C>A | CA383593169 | CHD4 | c.2411G>T (p.Arg804Leu) c.2450G>T (p.Arg817Leu) c.2441G>T (p.Arg814Leu) c.2376G>T c.2390G>T (p.Arg797Leu) c.2429G>T (p.Arg810Leu) c.1167G>T c.2417G>T (p.Arg806Leu) c.308G>T (p.Arg103Leu) n.405G>T n.2030G>T c.1378G>T c.451G>T | dbSNP |
12 | g.6593480C= | CA2014149554 | CHD4 | c.2411G= (p.Arg804=) c.2450G= (p.Arg817=) c.2441G= (p.Arg814=) c.2376G= c.2390G= (p.Arg797=) c.2429G= (p.Arg810=) c.1167G= c.2417G= (p.Arg806=) c.308G= (p.Arg103=) n.405G= n.2030G= c.1378G= c.451G= | |
12 | g.6593480C>G | CA383593170 | CHD4 | c.2411G>C (p.Arg804Pro) c.2450G>C (p.Arg817Pro) c.2441G>C (p.Arg814Pro) c.2376G>C c.2390G>C (p.Arg797Pro) c.2429G>C (p.Arg810Pro) c.1167G>C c.2417G>C (p.Arg806Pro) c.308G>C (p.Arg103Pro) n.405G>C n.2030G>C c.1378G>C c.451G>C | |
12 | g.6593480C>T | CA6411965 | CHD4 | c.2411G>A (p.Arg804Gln) c.2450G>A (p.Arg817Gln) c.2441G>A (p.Arg814Gln) c.2376G>A c.2390G>A (p.Arg797Gln) c.2429G>A (p.Arg810Gln) c.1167G>A c.2417G>A (p.Arg806Gln) c.308G>A (p.Arg103Gln) n.405G>A n.2030G>A c.1378G>A c.451G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.6593481G>A | CA383593171 | CHD4 | c.2410C>T (p.Arg804Ter) c.2449C>T (p.Arg817Ter) c.2440C>T (p.Arg814Ter) c.2375C>T c.2389C>T (p.Arg797Ter) c.2428C>T (p.Arg810Ter) c.1166C>T c.2416C>T (p.Arg806Ter) c.307C>T (p.Arg103Ter) n.404C>T n.2029C>T c.1377C>T c.450C>T | dbSNP |
12 | g.6593481G>C | CA383593173 | CHD4 | c.2410C>G (p.Arg804Gly) c.2449C>G (p.Arg817Gly) c.2440C>G (p.Arg814Gly) c.2375C>G c.2389C>G (p.Arg797Gly) c.2428C>G (p.Arg810Gly) c.1166C>G c.2416C>G (p.Arg806Gly) c.307C>G (p.Arg103Gly) n.404C>G n.2029C>G c.1377C>G c.450C>G | dbSNP |
12 | g.6593481G= | CA2014149558 | CHD4 | c.2410C= (p.Arg804=) c.2449C= (p.Arg817=) c.2440C= (p.Arg814=) c.2375C= c.2389C= (p.Arg797=) c.2428C= (p.Arg810=) c.1166C= c.2416C= (p.Arg806=) c.307C= (p.Arg103=) n.404C= n.2029C= c.1377C= c.450C= | |
12 | g.6593481G>T | CA478132823 | CHD4 | c.2410C>A (p.Arg804=) c.2449C>A (p.Arg817=) c.2440C>A (p.Arg814=) c.2375C>A c.2389C>A (p.Arg797=) c.2428C>A (p.Arg810=) c.1166C>A c.2416C>A (p.Arg806=) c.307C>A (p.Arg103=) n.404C>A n.2029C>A c.1377C>A c.450C>A | dbSNP gnomAD v4 |
12 | g.6593482G>A | CA478132827 | CHD4 | c.2409C>T (p.Ile803=) c.2448C>T (p.Ile816=) c.2439C>T (p.Ile813=) c.2374C>T c.2388C>T (p.Ile796=) c.2427C>T (p.Ile809=) c.1165C>T c.2415C>T (p.Ile805=) c.306C>T (p.Ile102=) n.403C>T n.2028C>T c.1376C>T c.449C>T | |
12 | g.6593482G>C | CA383593177 | CHD4 | c.2409C>G (p.Ile803Met) c.2448C>G (p.Ile816Met) c.2439C>G (p.Ile813Met) c.2374C>G c.2388C>G (p.Ile796Met) c.2427C>G (p.Ile809Met) c.1165C>G c.2415C>G (p.Ile805Met) c.306C>G (p.Ile102Met) n.403C>G n.2028C>G c.1376C>G c.449C>G | COSMIC COSMIC COSMIC |
12 | g.6593482G>T | CA478132831 | CHD4 | c.2409C>A (p.Ile803=) c.2448C>A (p.Ile816=) c.2439C>A (p.Ile813=) c.2374C>A c.2388C>A (p.Ile796=) c.2427C>A (p.Ile809=) c.1165C>A c.2415C>A (p.Ile805=) c.306C>A (p.Ile102=) n.403C>A n.2028C>A c.1376C>A c.449C>A | |
12 | g.6593483A>C | CA383593180 | CHD4 | c.2408T>G (p.Ile803Ser) c.2447T>G (p.Ile816Ser) c.2438T>G (p.Ile813Ser) c.2373T>G c.2387T>G (p.Ile796Ser) c.2426T>G (p.Ile809Ser) c.1164T>G c.2414T>G (p.Ile805Ser) c.305T>G (p.Ile102Ser) n.402T>G n.2027T>G c.1375T>G c.448T>G | |
12 | g.6593483A>G | CA383593183 | CHD4 | c.2408T>C (p.Ile803Thr) c.2447T>C (p.Ile816Thr) c.2438T>C (p.Ile813Thr) c.2373T>C c.2387T>C (p.Ile796Thr) c.2426T>C (p.Ile809Thr) c.1164T>C c.2414T>C (p.Ile805Thr) c.305T>C (p.Ile102Thr) n.402T>C n.2027T>C c.1375T>C c.448T>C | |
12 | g.6593483A>T | CA383593186 | CHD4 | c.2408T>A (p.Ile803Asn) c.2447T>A (p.Ile816Asn) c.2438T>A (p.Ile813Asn) c.2373T>A c.2387T>A (p.Ile796Asn) c.2426T>A (p.Ile809Asn) c.1164T>A c.2414T>A (p.Ile805Asn) c.305T>A (p.Ile102Asn) n.402T>A n.2027T>A c.1375T>A c.448T>A | |
12 | g.6593484T>A | CA383593189 | CHD4 | c.2407A>T (p.Ile803Phe) c.2446A>T (p.Ile816Phe) c.2437A>T (p.Ile813Phe) c.2372A>T c.2386A>T (p.Ile796Phe) c.2425A>T (p.Ile809Phe) c.1163A>T c.2413A>T (p.Ile805Phe) c.304A>T (p.Ile102Phe) n.401A>T n.2026A>T c.1374A>T c.447A>T | |
12 | g.6593484T>C | CA383593190 | CHD4 | c.2407A>G (p.Ile803Val) c.2446A>G (p.Ile816Val) c.2437A>G (p.Ile813Val) c.2372A>G c.2386A>G (p.Ile796Val) c.2425A>G (p.Ile809Val) c.1163A>G c.2413A>G (p.Ile805Val) c.304A>G (p.Ile102Val) n.401A>G n.2026A>G c.1374A>G c.447A>G | gnomAD v4 |
12 | g.6593484T>G | CA383593191 | CHD4 | c.2407A>C (p.Ile803Leu) c.2446A>C (p.Ile816Leu) c.2437A>C (p.Ile813Leu) c.2372A>C c.2386A>C (p.Ile796Leu) c.2425A>C (p.Ile809Leu) c.1163A>C c.2413A>C (p.Ile805Leu) c.304A>C (p.Ile102Leu) n.401A>C n.2026A>C c.1374A>C c.447A>C | |
12 | g.6593485G>A | CA478132838 | CHD4 | c.2406C>T (p.Ile802=) c.2445C>T (p.Ile815=) c.2436C>T (p.Ile812=) c.2371C>T c.2385C>T (p.Ile795=) c.2424C>T (p.Ile808=) c.1162C>T c.2412C>T (p.Ile804=) c.303C>T (p.Ile101=) n.400C>T n.2025C>T c.1373C>T c.446C>T | |
12 | g.6593485G>C | CA383593192 | CHD4 | c.2406C>G (p.Ile802Met) c.2445C>G (p.Ile815Met) c.2436C>G (p.Ile812Met) c.2371C>G c.2385C>G (p.Ile795Met) c.2424C>G (p.Ile808Met) c.1162C>G c.2412C>G (p.Ile804Met) c.303C>G (p.Ile101Met) n.400C>G n.2025C>G c.1373C>G c.446C>G | |
12 | g.6593485G>T | CA478132841 | CHD4 | c.2406C>A (p.Ile802=) c.2445C>A (p.Ile815=) c.2436C>A (p.Ile812=) c.2371C>A c.2385C>A (p.Ile795=) c.2424C>A (p.Ile808=) c.1162C>A c.2412C>A (p.Ile804=) c.303C>A (p.Ile101=) n.400C>A n.2025C>A c.1373C>A c.446C>A | |
12 | g.6593486A>C | CA383593198 | CHD4 | c.2405T>G (p.Ile802Ser) c.2444T>G (p.Ile815Ser) c.2435T>G (p.Ile812Ser) c.2370T>G c.2384T>G (p.Ile795Ser) c.2423T>G (p.Ile808Ser) c.1161T>G c.2411T>G (p.Ile804Ser) c.302T>G (p.Ile101Ser) n.399T>G n.2024T>G c.1372T>G c.445T>G | |
12 | g.6593486A>G | CA383593200 | CHD4 | c.2405T>C (p.Ile802Thr) c.2444T>C (p.Ile815Thr) c.2435T>C (p.Ile812Thr) c.2370T>C c.2384T>C (p.Ile795Thr) c.2423T>C (p.Ile808Thr) c.1161T>C c.2411T>C (p.Ile804Thr) c.302T>C (p.Ile101Thr) n.399T>C n.2024T>C c.1372T>C c.445T>C | |
12 | g.6593486A>T | CA383593196 | CHD4 | c.2405T>A (p.Ile802Asn) c.2444T>A (p.Ile815Asn) c.2435T>A (p.Ile812Asn) c.2370T>A c.2384T>A (p.Ile795Asn) c.2423T>A (p.Ile808Asn) c.1161T>A c.2411T>A (p.Ile804Asn) c.302T>A (p.Ile101Asn) n.399T>A n.2024T>A c.1372T>A c.445T>A | |
12 | g.6593487T>A | CA383593203 | CHD4 | c.2404A>T (p.Ile802Phe) c.2443A>T (p.Ile815Phe) c.2434A>T (p.Ile812Phe) c.2369A>T c.2383A>T (p.Ile795Phe) c.2422A>T (p.Ile808Phe) c.1160A>T c.2410A>T (p.Ile804Phe) c.301A>T (p.Ile101Phe) n.398A>T n.2023A>T c.1371A>T c.444A>T | |
12 | g.6593487T>C | CA383593212 | CHD4 | c.2404A>G (p.Ile802Val) c.2443A>G (p.Ile815Val) c.2434A>G (p.Ile812Val) c.2369A>G c.2383A>G (p.Ile795Val) c.2422A>G (p.Ile808Val) c.1160A>G c.2410A>G (p.Ile804Val) c.301A>G (p.Ile101Val) n.398A>G n.2023A>G c.1371A>G c.444A>G | gnomAD v4 |
12 | g.6593487T>G | CA383593206 | CHD4 | c.2404A>C (p.Ile802Leu) c.2443A>C (p.Ile815Leu) c.2434A>C (p.Ile812Leu) c.2369A>C c.2383A>C (p.Ile795Leu) c.2422A>C (p.Ile808Leu) c.1160A>C c.2410A>C (p.Ile804Leu) c.301A>C (p.Ile101Leu) n.398A>C n.2023A>C c.1371A>C c.444A>C | |
12 | g.6593488G>A | CA232392995 | CHD4 | c.2403C>T (p.Ala801=) c.2442C>T (p.Ala814=) c.2433C>T (p.Ala811=) c.2368C>T c.2382C>T (p.Ala794=) c.2421C>T (p.Ala807=) c.1159C>T c.2409C>T (p.Ala803=) c.300C>T (p.Ala100=) n.397C>T n.2022C>T c.1370C>T c.443C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6593488G>C | CA478132852 | CHD4 | c.2403C>G (p.Ala801=) c.2442C>G (p.Ala814=) c.2433C>G (p.Ala811=) c.2368C>G c.2382C>G (p.Ala794=) c.2421C>G (p.Ala807=) c.1159C>G c.2409C>G (p.Ala803=) c.300C>G (p.Ala100=) n.397C>G n.2022C>G c.1370C>G c.443C>G | |
12 | g.6593488G= | CA2014149562 | CHD4 | c.2403C= (p.Ala801=) c.2442C= (p.Ala814=) c.2433C= (p.Ala811=) c.2368C= c.2382C= (p.Ala794=) c.2421C= (p.Ala807=) c.1159C= c.2409C= (p.Ala803=) c.300C= (p.Ala100=) n.397C= n.2022C= c.1370C= c.443C= | |
12 | g.6593488G>T | CA478132855 | CHD4 | c.2403C>A (p.Ala801=) c.2442C>A (p.Ala814=) c.2433C>A (p.Ala811=) c.2368C>A c.2382C>A (p.Ala794=) c.2421C>A (p.Ala807=) c.1159C>A c.2409C>A (p.Ala803=) c.300C>A (p.Ala100=) n.397C>A n.2022C>A c.1370C>A c.443C>A | |
12 | g.6593489G>A | CA383593224 | CHD4 | c.2402C>T (p.Ala801Val) c.2441C>T (p.Ala814Val) c.2432C>T (p.Ala811Val) c.2367C>T c.2381C>T (p.Ala794Val) c.2420C>T (p.Ala807Val) c.1158C>T c.2408C>T (p.Ala803Val) c.299C>T (p.Ala100Val) n.396C>T n.2021C>T c.1369C>T c.442C>T | dbSNP gnomAD v4 |
12 | g.6593489G>C | CA383593226 | CHD4 | c.2402C>G (p.Ala801Gly) c.2441C>G (p.Ala814Gly) c.2432C>G (p.Ala811Gly) c.2367C>G c.2381C>G (p.Ala794Gly) c.2420C>G (p.Ala807Gly) c.1158C>G c.2408C>G (p.Ala803Gly) c.299C>G (p.Ala100Gly) n.396C>G n.2021C>G c.1369C>G c.442C>G | |
12 | g.6593489G>T | CA383593228 | CHD4 | c.2402C>A (p.Ala801Asp) c.2441C>A (p.Ala814Asp) c.2432C>A (p.Ala811Asp) c.2367C>A c.2381C>A (p.Ala794Asp) c.2420C>A (p.Ala807Asp) c.1158C>A c.2408C>A (p.Ala803Asp) c.299C>A (p.Ala100Asp) n.396C>A n.2021C>A c.1369C>A c.442C>A | |
12 | g.6593490C>A | CA383593230 | CHD4 | c.2401G>T (p.Ala801Ser) c.2440G>T (p.Ala814Ser) c.2431G>T (p.Ala811Ser) c.2366G>T c.2380G>T (p.Ala794Ser) c.2419G>T (p.Ala807Ser) c.1157G>T c.2407G>T (p.Ala803Ser) c.298G>T (p.Ala100Ser) n.395G>T n.2020G>T c.1368G>T c.441G>T | |
12 | g.6593490C>G | CA383593232 | CHD4 | c.2401G>C (p.Ala801Pro) c.2440G>C (p.Ala814Pro) c.2431G>C (p.Ala811Pro) c.2366G>C c.2380G>C (p.Ala794Pro) c.2419G>C (p.Ala807Pro) c.1157G>C c.2407G>C (p.Ala803Pro) c.298G>C (p.Ala100Pro) n.395G>C n.2020G>C c.1368G>C c.441G>C | |
12 | g.6593490C>T | CA383593234 | CHD4 | c.2401G>A (p.Ala801Thr) c.2440G>A (p.Ala814Thr) c.2431G>A (p.Ala811Thr) c.2366G>A c.2380G>A (p.Ala794Thr) c.2419G>A (p.Ala807Thr) c.1157G>A c.2407G>A (p.Ala803Thr) c.298G>A (p.Ala100Thr) n.395G>A n.2020G>A c.1368G>A c.441G>A | gnomAD v4 |
12 | g.6593491A>C | CA478132870 | CHD4 | c.2400T>G (p.Arg800=) c.2439T>G (p.Arg813=) c.2430T>G (p.Arg810=) c.2365T>G c.2379T>G (p.Arg793=) c.2418T>G (p.Arg806=) c.1156T>G c.2406T>G (p.Arg802=) c.297T>G (p.Arg99=) n.394T>G n.2019T>G c.1367T>G c.440T>G | |
12 | g.6593491A>G | CA478132868 | CHD4 | c.2400T>C (p.Arg800=) c.2439T>C (p.Arg813=) c.2430T>C (p.Arg810=) c.2365T>C c.2379T>C (p.Arg793=) c.2418T>C (p.Arg806=) c.1156T>C c.2406T>C (p.Arg802=) c.297T>C (p.Arg99=) n.394T>C n.2019T>C c.1367T>C c.440T>C | |
12 | g.6593491A>T | CA478132866 | CHD4 | c.2400T>A (p.Arg800=) c.2439T>A (p.Arg813=) c.2430T>A (p.Arg810=) c.2365T>A c.2379T>A (p.Arg793=) c.2418T>A (p.Arg806=) c.1156T>A c.2406T>A (p.Arg802=) c.297T>A (p.Arg99=) n.394T>A n.2019T>A c.1367T>A c.440T>A | |
12 | g.6593492C>A | CA383593236 | CHD4 | c.2399G>T (p.Arg800Leu) c.2438G>T (p.Arg813Leu) c.2429G>T (p.Arg810Leu) c.2364G>T c.2378G>T (p.Arg793Leu) c.2417G>T (p.Arg806Leu) c.1155G>T c.2405G>T (p.Arg802Leu) c.296G>T (p.Arg99Leu) n.393G>T n.2018G>T c.1366G>T c.439G>T | |
12 | g.6593492C>G | CA383593242 | CHD4 | c.2399G>C (p.Arg800Pro) c.2438G>C (p.Arg813Pro) c.2429G>C (p.Arg810Pro) c.2364G>C c.2378G>C (p.Arg793Pro) c.2417G>C (p.Arg806Pro) c.1155G>C c.2405G>C (p.Arg802Pro) c.296G>C (p.Arg99Pro) n.393G>C n.2018G>C c.1366G>C c.439G>C | |
12 | g.6593492C>T | CA383593243 | CHD4 | c.2399G>A (p.Arg800His) c.2438G>A (p.Arg813His) c.2429G>A (p.Arg810His) c.2364G>A c.2378G>A (p.Arg793His) c.2417G>A (p.Arg806His) c.1155G>A c.2405G>A (p.Arg802His) c.296G>A (p.Arg99His) n.393G>A n.2018G>A c.1366G>A c.439G>A | ClinVar dbSNP COSMIC COSMIC COSMIC |
12 | g.6593493G>A | CA383593245 | CHD4 | c.2398C>T (p.Arg800Cys) c.2437C>T (p.Arg813Cys) c.2428C>T (p.Arg810Cys) c.2363C>T c.2377C>T (p.Arg793Cys) c.2416C>T (p.Arg806Cys) c.1154C>T c.2404C>T (p.Arg802Cys) c.295C>T (p.Arg99Cys) n.392C>T n.2017C>T c.1365C>T c.438C>T | dbSNP COSMIC COSMIC COSMIC |
12 | g.6593493G>C | CA383593246 | CHD4 | c.2398C>G (p.Arg800Gly) c.2437C>G (p.Arg813Gly) c.2428C>G (p.Arg810Gly) c.2363C>G c.2377C>G (p.Arg793Gly) c.2416C>G (p.Arg806Gly) c.1154C>G c.2404C>G (p.Arg802Gly) c.295C>G (p.Arg99Gly) n.392C>G n.2017C>G c.1365C>G c.438C>G | |
12 | g.6593493G>T | CA383593247 | CHD4 | c.2398C>A (p.Arg800Ser) c.2437C>A (p.Arg813Ser) c.2428C>A (p.Arg810Ser) c.2363C>A c.2377C>A (p.Arg793Ser) c.2416C>A (p.Arg806Ser) c.1154C>A c.2404C>A (p.Arg802Ser) c.295C>A (p.Arg99Ser) n.392C>A n.2017C>A c.1365C>A c.438C>A | |
12 | g.6593494G>A | CA478132885 | CHD4 | c.2397C>T (p.Ser799=) c.2436C>T (p.Ser812=) c.2427C>T (p.Ser809=) c.2362C>T c.2376C>T (p.Ser792=) c.2415C>T (p.Ser805=) c.1153C>T c.2403C>T (p.Ser801=) c.294C>T (p.Ser98=) n.391C>T n.2016C>T c.1364C>T c.437C>T | dbSNP |
12 | g.6593494G>C | CA383593249 | CHD4 | c.2397C>G (p.Ser799Arg) c.2436C>G (p.Ser812Arg) c.2427C>G (p.Ser809Arg) c.2362C>G c.2376C>G (p.Ser792Arg) c.2415C>G (p.Ser805Arg) c.1153C>G c.2403C>G (p.Ser801Arg) c.294C>G (p.Ser98Arg) n.391C>G n.2016C>G c.1364C>G c.437C>G | |
12 | g.6593494G>T | CA383593250 | CHD4 | c.2397C>A (p.Ser799Arg) c.2436C>A (p.Ser812Arg) c.2427C>A (p.Ser809Arg) c.2362C>A c.2376C>A (p.Ser792Arg) c.2415C>A (p.Ser805Arg) c.1153C>A c.2403C>A (p.Ser801Arg) c.294C>A (p.Ser98Arg) n.391C>A n.2016C>A c.1364C>A c.437C>A | |
12 | g.6593495C>A | CA383593252 | CHD4 | c.2396G>T (p.Ser799Ile) c.2435G>T (p.Ser812Ile) c.2426G>T (p.Ser809Ile) c.2361G>T c.2375G>T (p.Ser792Ile) c.2414G>T (p.Ser805Ile) c.1152G>T c.2402G>T (p.Ser801Ile) c.293G>T (p.Ser98Ile) n.390G>T n.2015G>T c.1363G>T c.436G>T | |
12 | g.6593495C>G | CA383593254 | CHD4 | c.2396G>C (p.Ser799Thr) c.2435G>C (p.Ser812Thr) c.2426G>C (p.Ser809Thr) c.2361G>C c.2375G>C (p.Ser792Thr) c.2414G>C (p.Ser805Thr) c.1152G>C c.2402G>C (p.Ser801Thr) c.293G>C (p.Ser98Thr) n.390G>C n.2015G>C c.1363G>C c.436G>C | |
12 | g.6593495C>T | CA383593255 | CHD4 | c.2396G>A (p.Ser799Asn) c.2435G>A (p.Ser812Asn) c.2426G>A (p.Ser809Asn) c.2361G>A c.2375G>A (p.Ser792Asn) c.2414G>A (p.Ser805Asn) c.1152G>A c.2402G>A (p.Ser801Asn) c.293G>A (p.Ser98Asn) n.390G>A n.2015G>A c.1363G>A c.436G>A | dbSNP |
12 | g.6593496T>A | CA383593259 | CHD4 | c.2395A>T (p.Ser799Cys) c.2434A>T (p.Ser812Cys) c.2425A>T (p.Ser809Cys) c.2360A>T c.2374A>T (p.Ser792Cys) c.2413A>T (p.Ser805Cys) c.1151A>T c.2401A>T (p.Ser801Cys) c.292A>T (p.Ser98Cys) n.389A>T n.2014A>T c.1362A>T c.435A>T | |
12 | g.6593496T>C | CA383593260 | CHD4 | c.2395A>G (p.Ser799Gly) c.2434A>G (p.Ser812Gly) c.2425A>G (p.Ser809Gly) c.2360A>G c.2374A>G (p.Ser792Gly) c.2413A>G (p.Ser805Gly) c.1151A>G c.2401A>G (p.Ser801Gly) c.292A>G (p.Ser98Gly) n.389A>G n.2014A>G c.1362A>G c.435A>G | |
12 | g.6593496T>G | CA383593262 | CHD4 | c.2395A>C (p.Ser799Arg) c.2434A>C (p.Ser812Arg) c.2425A>C (p.Ser809Arg) c.2360A>C c.2374A>C (p.Ser792Arg) c.2413A>C (p.Ser805Arg) c.1151A>C c.2401A>C (p.Ser801Arg) c.292A>C (p.Ser98Arg) n.389A>C n.2014A>C c.1362A>C c.435A>C | |
12 | g.6593497G>A | CA478132895 | CHD4 | c.2394C>T (p.Asp798=) c.2433C>T (p.Asp811=) c.2424C>T (p.Asp808=) c.2359C>T c.2373C>T (p.Asp791=) c.2412C>T (p.Asp804=) c.1150C>T c.2400C>T (p.Asp800=) c.291C>T (p.Asp97=) n.388C>T n.2013C>T c.1361C>T c.434C>T | dbSNP |
12 | g.6593497G>C | CA383593264 | CHD4 | c.2394C>G (p.Asp798Glu) c.2433C>G (p.Asp811Glu) c.2424C>G (p.Asp808Glu) c.2359C>G c.2373C>G (p.Asp791Glu) c.2412C>G (p.Asp804Glu) c.1150C>G c.2400C>G (p.Asp800Glu) c.291C>G (p.Asp97Glu) n.388C>G n.2013C>G c.1361C>G c.434C>G | |
12 | g.6593497G>T | CA383593266 | CHD4 | c.2394C>A (p.Asp798Glu) c.2433C>A (p.Asp811Glu) c.2424C>A (p.Asp808Glu) c.2359C>A c.2373C>A (p.Asp791Glu) c.2412C>A (p.Asp804Glu) c.1150C>A c.2400C>A (p.Asp800Glu) c.291C>A (p.Asp97Glu) n.388C>A n.2013C>A c.1361C>A c.434C>A | |
12 | g.6593498T>A | CA383593268 | CHD4 | c.2393A>T (p.Asp798Val) c.2432A>T (p.Asp811Val) c.2423A>T (p.Asp808Val) c.2358A>T c.2372A>T (p.Asp791Val) c.2411A>T (p.Asp804Val) c.1149A>T c.2399A>T (p.Asp800Val) c.290A>T (p.Asp97Val) n.387A>T n.2012A>T c.1360A>T c.433A>T | |
12 | g.6593498T>C | CA383593270 | CHD4 | c.2393A>G (p.Asp798Gly) c.2432A>G (p.Asp811Gly) c.2423A>G (p.Asp808Gly) c.2358A>G c.2372A>G (p.Asp791Gly) c.2411A>G (p.Asp804Gly) c.1149A>G c.2399A>G (p.Asp800Gly) c.290A>G (p.Asp97Gly) n.387A>G n.2012A>G c.1360A>G c.433A>G | |
12 | g.6593498T>G | CA383593271 | CHD4 | c.2393A>C (p.Asp798Ala) c.2432A>C (p.Asp811Ala) c.2423A>C (p.Asp808Ala) c.2358A>C c.2372A>C (p.Asp791Ala) c.2411A>C (p.Asp804Ala) c.1149A>C c.2399A>C (p.Asp800Ala) c.290A>C (p.Asp97Ala) n.387A>C n.2012A>C c.1360A>C c.433A>C | |
12 | g.6593499C>A | CA6411966 | CHD4 | c.2392G>T (p.Asp798Tyr) c.2431G>T (p.Asp811Tyr) c.2422G>T (p.Asp808Tyr) c.2357G>T c.2371G>T (p.Asp791Tyr) c.2410G>T (p.Asp804Tyr) c.1148G>T c.2398G>T (p.Asp800Tyr) c.289G>T (p.Asp97Tyr) n.386G>T n.2011G>T c.1359G>T c.432G>T | dbSNP ExAC |
12 | g.6593499C= | CA2014149564 | CHD4 | c.2392G= (p.Asp798=) c.2431G= (p.Asp811=) c.2422G= (p.Asp808=) c.2357G= c.2371G= (p.Asp791=) c.2410G= (p.Asp804=) c.1148G= c.2398G= (p.Asp800=) c.289G= (p.Asp97=) n.386G= n.2011G= c.1359G= c.432G= | |
12 | g.6593499C>G | CA383593277 | CHD4 | c.2392G>C (p.Asp798His) c.2431G>C (p.Asp811His) c.2422G>C (p.Asp808His) c.2357G>C c.2371G>C (p.Asp791His) c.2410G>C (p.Asp804His) c.1148G>C c.2398G>C (p.Asp800His) c.289G>C (p.Asp97His) n.386G>C n.2011G>C c.1359G>C c.432G>C | |
12 | g.6593499C>T | CA383593274 | CHD4 | c.2392G>A (p.Asp798Asn) c.2431G>A (p.Asp811Asn) c.2422G>A (p.Asp808Asn) c.2357G>A c.2371G>A (p.Asp791Asn) c.2410G>A (p.Asp804Asn) c.1148G>A c.2398G>A (p.Asp800Asn) c.289G>A (p.Asp97Asn) n.386G>A n.2011G>A c.1359G>A c.432G>A | |
12 | g.6593500C>A | CA383593280 | CHD4 | c.2391G>T (p.Lys797Asn) c.2430G>T (p.Lys810Asn) c.2421G>T (p.Lys807Asn) c.2356G>T c.2370G>T (p.Lys790Asn) c.2409G>T (p.Lys803Asn) c.1147G>T c.2397G>T (p.Lys799Asn) c.288G>T (p.Lys96Asn) n.385G>T n.2010G>T c.1358G>T c.431G>T | |
12 | g.6593500C= | CA2014149569 | CHD4 | c.2391G= (p.Lys797=) c.2430G= (p.Lys810=) c.2421G= (p.Lys807=) c.2356G= c.2370G= (p.Lys790=) c.2409G= (p.Lys803=) c.1147G= c.2397G= (p.Lys799=) c.288G= (p.Lys96=) n.385G= n.2010G= c.1358G= c.431G= | |
12 | g.6593500C>G | CA383593282 | CHD4 | c.2391G>C (p.Lys797Asn) c.2430G>C (p.Lys810Asn) c.2421G>C (p.Lys807Asn) c.2356G>C c.2370G>C (p.Lys790Asn) c.2409G>C (p.Lys803Asn) c.1147G>C c.2397G>C (p.Lys799Asn) c.288G>C (p.Lys96Asn) n.385G>C n.2010G>C c.1358G>C c.431G>C | |
12 | g.6593500C>T | CA232392997 | CHD4 | c.2391G>A (p.Lys797=) c.2430G>A (p.Lys810=) c.2421G>A (p.Lys807=) c.2356G>A c.2370G>A (p.Lys790=) c.2409G>A (p.Lys803=) c.1147G>A c.2397G>A (p.Lys799=) c.288G>A (p.Lys96=) n.385G>A n.2010G>A c.1358G>A c.431G>A | dbSNP |
12 | g.6593501T>A | CA383593284 | CHD4 | c.2390A>T (p.Lys797Met) c.2429A>T (p.Lys810Met) c.2420A>T (p.Lys807Met) c.2355A>T c.2369A>T (p.Lys790Met) c.2408A>T (p.Lys803Met) c.1146A>T c.2396A>T (p.Lys799Met) c.287A>T (p.Lys96Met) n.384A>T n.2009A>T c.1357A>T c.430A>T | |
12 | g.6593501T>C | CA383593286 | CHD4 | c.2390A>G (p.Lys797Arg) c.2429A>G (p.Lys810Arg) c.2420A>G (p.Lys807Arg) c.2355A>G c.2369A>G (p.Lys790Arg) c.2408A>G (p.Lys803Arg) c.1146A>G c.2396A>G (p.Lys799Arg) c.287A>G (p.Lys96Arg) n.384A>G n.2009A>G c.1357A>G c.430A>G | |
12 | g.6593501T>G | CA383593287 | CHD4 | c.2390A>C (p.Lys797Thr) c.2429A>C (p.Lys810Thr) c.2420A>C (p.Lys807Thr) c.2355A>C c.2369A>C (p.Lys790Thr) c.2408A>C (p.Lys803Thr) c.1146A>C c.2396A>C (p.Lys799Thr) c.287A>C (p.Lys96Thr) n.384A>C n.2009A>C c.1357A>C c.430A>C | |
12 | g.6593502T>A | CA383593291 | CHD4 | c.2389A>T (p.Lys797Ter) c.2428A>T (p.Lys810Ter) c.2419A>T (p.Lys807Ter) c.2354A>T c.2368A>T (p.Lys790Ter) c.2407A>T (p.Lys803Ter) c.1145A>T c.2395A>T (p.Lys799Ter) c.286A>T (p.Lys96Ter) n.383A>T n.2008A>T c.1356A>T c.429A>T | |
12 | g.6593502T>C | CA383593290 | CHD4 | c.2389A>G (p.Lys797Glu) c.2428A>G (p.Lys810Glu) c.2419A>G (p.Lys807Glu) c.2354A>G c.2368A>G (p.Lys790Glu) c.2407A>G (p.Lys803Glu) c.1145A>G c.2395A>G (p.Lys799Glu) c.286A>G (p.Lys96Glu) n.383A>G n.2008A>G c.1356A>G c.429A>G | |
12 | g.6593502T>G | CA383593289 | CHD4 | c.2389A>C (p.Lys797Gln) c.2428A>C (p.Lys810Gln) c.2419A>C (p.Lys807Gln) c.2354A>C c.2368A>C (p.Lys790Gln) c.2407A>C (p.Lys803Gln) c.1145A>C c.2395A>C (p.Lys799Gln) c.286A>C (p.Lys96Gln) n.383A>C n.2008A>C c.1356A>C c.429A>C | |
12 | g.6593503G>A | CA6411967 | CHD4 | c.2388C>T (p.Asp796=) c.2427C>T (p.Asp809=) c.2418C>T (p.Asp806=) c.2353C>T c.2367C>T (p.Asp789=) c.2406C>T (p.Asp802=) c.1144C>T c.2394C>T (p.Asp798=) c.285C>T (p.Asp95=) n.382C>T n.2007C>T c.1355C>T c.428C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6593503G>C | CA383593292 | CHD4 | c.2388C>G (p.Asp796Glu) c.2427C>G (p.Asp809Glu) c.2418C>G (p.Asp806Glu) c.2353C>G c.2367C>G (p.Asp789Glu) c.2406C>G (p.Asp802Glu) c.1144C>G c.2394C>G (p.Asp798Glu) c.285C>G (p.Asp95Glu) n.382C>G n.2007C>G c.1355C>G c.428C>G | dbSNP |
12 | g.6593503G= | CA2014149571 | CHD4 | c.2388C= (p.Asp796=) c.2427C= (p.Asp809=) c.2418C= (p.Asp806=) c.2353C= c.2367C= (p.Asp789=) c.2406C= (p.Asp802=) c.1144C= c.2394C= (p.Asp798=) c.285C= (p.Asp95=) n.382C= n.2007C= c.1355C= c.428C= | |
12 | g.6593503G>T | CA383593293 | CHD4 | c.2388C>A (p.Asp796Glu) c.2427C>A (p.Asp809Glu) c.2418C>A (p.Asp806Glu) c.2353C>A c.2367C>A (p.Asp789Glu) c.2406C>A (p.Asp802Glu) c.1144C>A c.2394C>A (p.Asp798Glu) c.285C>A (p.Asp95Glu) n.382C>A n.2007C>A c.1355C>A c.428C>A | |
12 | g.6593504T>A | CA383593296 | CHD4 | c.2387A>T (p.Asp796Val) c.2426A>T (p.Asp809Val) c.2417A>T (p.Asp806Val) c.2352A>T c.2366A>T (p.Asp789Val) c.2405A>T (p.Asp802Val) c.1143A>T c.2393A>T (p.Asp798Val) c.284A>T (p.Asp95Val) n.381A>T n.2006A>T c.1354A>T c.427A>T | |
12 | g.6593504T>C | CA383593299 | CHD4 | c.2387A>G (p.Asp796Gly) c.2426A>G (p.Asp809Gly) c.2417A>G (p.Asp806Gly) c.2352A>G c.2366A>G (p.Asp789Gly) c.2405A>G (p.Asp802Gly) c.1143A>G c.2393A>G (p.Asp798Gly) c.284A>G (p.Asp95Gly) n.381A>G n.2006A>G c.1354A>G c.427A>G | |
12 | g.6593504T>G | CA383593301 | CHD4 | c.2387A>C (p.Asp796Ala) c.2426A>C (p.Asp809Ala) c.2417A>C (p.Asp806Ala) c.2352A>C c.2366A>C (p.Asp789Ala) c.2405A>C (p.Asp802Ala) c.1143A>C c.2393A>C (p.Asp798Ala) c.284A>C (p.Asp95Ala) n.381A>C n.2006A>C c.1354A>C c.427A>C | |
12 | g.6593505C>A | CA383593305 | CHD4 | c.2386G>T (p.Asp796Tyr) c.2425G>T (p.Asp809Tyr) c.2416G>T (p.Asp806Tyr) c.2351G>T c.2365G>T (p.Asp789Tyr) c.2404G>T (p.Asp802Tyr) c.1142G>T c.2392G>T (p.Asp798Tyr) c.283G>T (p.Asp95Tyr) n.380G>T n.2005G>T c.1353G>T c.426G>T | |
12 | g.6593505C>G | CA383593309 | CHD4 | c.2386G>C (p.Asp796His) c.2425G>C (p.Asp809His) c.2416G>C (p.Asp806His) c.2351G>C c.2365G>C (p.Asp789His) c.2404G>C (p.Asp802His) c.1142G>C c.2392G>C (p.Asp798His) c.283G>C (p.Asp95His) n.380G>C n.2005G>C c.1353G>C c.426G>C | |
12 | g.6593505C>T | CA383593307 | CHD4 | c.2386G>A (p.Asp796Asn) c.2425G>A (p.Asp809Asn) c.2416G>A (p.Asp806Asn) c.2351G>A c.2365G>A (p.Asp789Asn) c.2404G>A (p.Asp802Asn) c.1142G>A c.2392G>A (p.Asp798Asn) c.283G>A (p.Asp95Asn) n.380G>A n.2005G>A c.1353G>A c.426G>A | |
12 | g.6593506A>C | CA478132920 | CHD4 | c.2385T>G (p.Gly795=) c.2424T>G (p.Gly808=) c.2415T>G (p.Gly805=) c.2350T>G c.2364T>G (p.Gly788=) c.2403T>G (p.Gly801=) c.1141T>G c.2391T>G (p.Gly797=) c.282T>G (p.Gly94=) n.379T>G n.2004T>G c.1352T>G c.425T>G | |
12 | g.6593506A>G | CA478132921 | CHD4 | c.2385T>C (p.Gly795=) c.2424T>C (p.Gly808=) c.2415T>C (p.Gly805=) c.2350T>C c.2364T>C (p.Gly788=) c.2403T>C (p.Gly801=) c.1141T>C c.2391T>C (p.Gly797=) c.282T>C (p.Gly94=) n.379T>C n.2004T>C c.1352T>C c.425T>C | gnomAD v4 |
12 | g.6593506A>T | CA478132922 | CHD4 | c.2385T>A (p.Gly795=) c.2424T>A (p.Gly808=) c.2415T>A (p.Gly805=) c.2350T>A c.2364T>A (p.Gly788=) c.2403T>A (p.Gly801=) c.1141T>A c.2391T>A (p.Gly797=) c.282T>A (p.Gly94=) n.379T>A n.2004T>A c.1352T>A c.425T>A | |
12 | g.6593507C>A | CA383593312 | CHD4 | c.2384G>T (p.Gly795Val) c.2423G>T (p.Gly808Val) c.2414G>T (p.Gly805Val) c.2349G>T c.2363G>T (p.Gly788Val) c.2402G>T (p.Gly801Val) c.1140G>T c.2390G>T (p.Gly797Val) c.281G>T (p.Gly94Val) n.378G>T n.2003G>T c.1351G>T c.424G>T | |
12 | g.6593507C>G | CA383593314 | CHD4 | c.2384G>C (p.Gly795Ala) c.2423G>C (p.Gly808Ala) c.2414G>C (p.Gly805Ala) c.2349G>C c.2363G>C (p.Gly788Ala) c.2402G>C (p.Gly801Ala) c.1140G>C c.2390G>C (p.Gly797Ala) c.281G>C (p.Gly94Ala) n.378G>C n.2003G>C c.1351G>C c.424G>C | |
12 | g.6593507C>T | CA383593316 | CHD4 | c.2384G>A (p.Gly795Asp) c.2423G>A (p.Gly808Asp) c.2414G>A (p.Gly805Asp) c.2349G>A c.2363G>A (p.Gly788Asp) c.2402G>A (p.Gly801Asp) c.1140G>A c.2390G>A (p.Gly797Asp) c.281G>A (p.Gly94Asp) n.378G>A n.2003G>A c.1351G>A c.424G>A | |
12 | g.6593508C>A | CA383593318 | CHD4 | c.2383G>T (p.Gly795Cys) c.2422G>T (p.Gly808Cys) c.2413G>T (p.Gly805Cys) c.2348G>T c.2362G>T (p.Gly788Cys) c.2401G>T (p.Gly801Cys) c.1139G>T c.2389G>T (p.Gly797Cys) c.280G>T (p.Gly94Cys) n.377G>T n.2002G>T c.1350G>T c.423G>T | dbSNP |
12 | g.6593508C>G | CA383593321 | CHD4 | c.2383G>C (p.Gly795Arg) c.2422G>C (p.Gly808Arg) c.2413G>C (p.Gly805Arg) c.2348G>C c.2362G>C (p.Gly788Arg) c.2401G>C (p.Gly801Arg) c.1139G>C c.2389G>C (p.Gly797Arg) c.280G>C (p.Gly94Arg) n.377G>C n.2002G>C c.1350G>C c.423G>C | |
12 | g.6593508C>T | CA383593324 | CHD4 | c.2383G>A (p.Gly795Ser) c.2422G>A (p.Gly808Ser) c.2413G>A (p.Gly805Ser) c.2348G>A c.2362G>A (p.Gly788Ser) c.2401G>A (p.Gly801Ser) c.1139G>A c.2389G>A (p.Gly797Ser) c.280G>A (p.Gly94Ser) n.377G>A n.2002G>A c.1350G>A c.423G>A | |
12 | g.6593509C>A | CA478132927 | CHD4 | c.2382G>T (p.Val794=) c.2421G>T (p.Val807=) c.2412G>T (p.Val804=) c.2347G>T c.2361G>T (p.Val787=) c.2400G>T (p.Val800=) c.1138G>T c.2388G>T (p.Val796=) c.279G>T (p.Val93=) n.376G>T n.2001G>T c.1349G>T c.422G>T | |
12 | g.6593509C>G | CA478132929 | CHD4 | c.2382G>C (p.Val794=) c.2421G>C (p.Val807=) c.2412G>C (p.Val804=) c.2347G>C c.2361G>C (p.Val787=) c.2400G>C (p.Val800=) c.1138G>C c.2388G>C (p.Val796=) c.279G>C (p.Val93=) n.376G>C n.2001G>C c.1349G>C c.422G>C | |
12 | g.6593509C>T | CA478132931 | CHD4 | c.2382G>A (p.Val794=) c.2421G>A (p.Val807=) c.2412G>A (p.Val804=) c.2347G>A c.2361G>A (p.Val787=) c.2400G>A (p.Val800=) c.1138G>A c.2388G>A (p.Val796=) c.279G>A (p.Val93=) n.376G>A n.2001G>A c.1349G>A c.422G>A | |
12 | g.6593510A>C | CA383593329 | CHD4 | c.2381T>G (p.Val794Gly) c.2420T>G (p.Val807Gly) c.2411T>G (p.Val804Gly) c.2346T>G c.2360T>G (p.Val787Gly) c.2399T>G (p.Val800Gly) c.1137T>G c.2387T>G (p.Val796Gly) c.278T>G (p.Val93Gly) n.375T>G n.2000T>G c.1348T>G c.421T>G | |
12 | g.6593510A>G | CA383593333 | CHD4 | c.2381T>C (p.Val794Ala) c.2420T>C (p.Val807Ala) c.2411T>C (p.Val804Ala) c.2346T>C c.2360T>C (p.Val787Ala) c.2399T>C (p.Val800Ala) c.1137T>C c.2387T>C (p.Val796Ala) c.278T>C (p.Val93Ala) n.375T>C n.2000T>C c.1348T>C c.421T>C | |
12 | g.6593510A>T | CA383593337 | CHD4 | c.2381T>A (p.Val794Glu) c.2420T>A (p.Val807Glu) c.2411T>A (p.Val804Glu) c.2346T>A c.2360T>A (p.Val787Glu) c.2399T>A (p.Val800Glu) c.1137T>A c.2387T>A (p.Val796Glu) c.278T>A (p.Val93Glu) n.375T>A n.2000T>A c.1348T>A c.421T>A | |
12 | g.6593511C>A | CA383593348 | CHD4 | c.2380G>T (p.Val794Leu) c.2419G>T (p.Val807Leu) c.2410G>T (p.Val804Leu) c.2345G>T c.2359G>T (p.Val787Leu) c.2398G>T (p.Val800Leu) c.1136G>T c.2386G>T (p.Val796Leu) c.277G>T (p.Val93Leu) n.374G>T n.1999G>T c.1347G>T c.420G>T | |
12 | g.6593511C>G | CA383593358 | CHD4 | c.2380G>C (p.Val794Leu) c.2419G>C (p.Val807Leu) c.2410G>C (p.Val804Leu) c.2345G>C c.2359G>C (p.Val787Leu) c.2398G>C (p.Val800Leu) c.1136G>C c.2386G>C (p.Val796Leu) c.277G>C (p.Val93Leu) n.374G>C n.1999G>C c.1347G>C c.420G>C | |
12 | g.6593511C>T | CA383593360 | CHD4 | c.2380G>A (p.Val794Met) c.2419G>A (p.Val807Met) c.2410G>A (p.Val804Met) c.2345G>A c.2359G>A (p.Val787Met) c.2398G>A (p.Val800Met) c.1136G>A c.2386G>A (p.Val796Met) c.277G>A (p.Val93Met) n.374G>A n.1999G>A c.1347G>A c.420G>A | |
12 | g.6593512A= | CA2014149573 | CHD4 | c.2379T= (p.Tyr793=) c.2418T= (p.Tyr806=) c.2409T= (p.Tyr803=) c.2344T= c.2358T= (p.Tyr786=) c.2397T= (p.Tyr799=) c.1135T= c.2385T= (p.Tyr795=) c.276T= (p.Tyr92=) n.373T= n.1998T= c.1346T= c.419T= | |
12 | g.6593512A>C | CA383593368 | CHD4 | c.2379T>G (p.Tyr793Ter) c.2418T>G (p.Tyr806Ter) c.2409T>G (p.Tyr803Ter) c.2344T>G c.2358T>G (p.Tyr786Ter) c.2397T>G (p.Tyr799Ter) c.1135T>G c.2385T>G (p.Tyr795Ter) c.276T>G (p.Tyr92Ter) n.373T>G n.1998T>G c.1346T>G c.419T>G | |
12 | g.6593512A>G | CA478132936 | CHD4 | c.2379T>C (p.Tyr793=) c.2418T>C (p.Tyr806=) c.2409T>C (p.Tyr803=) c.2344T>C c.2358T>C (p.Tyr786=) c.2397T>C (p.Tyr799=) c.1135T>C c.2385T>C (p.Tyr795=) c.276T>C (p.Tyr92=) n.373T>C n.1998T>C c.1346T>C c.419T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6593512A>T | CA383593364 | CHD4 | c.2379T>A (p.Tyr793Ter) c.2418T>A (p.Tyr806Ter) c.2409T>A (p.Tyr803Ter) c.2344T>A c.2358T>A (p.Tyr786Ter) c.2397T>A (p.Tyr799Ter) c.1135T>A c.2385T>A (p.Tyr795Ter) c.276T>A (p.Tyr92Ter) n.373T>A n.1998T>A c.1346T>A c.419T>A | |
12 | g.6593513T>A | CA383593372 | CHD4 | c.2378A>T (p.Tyr793Phe) c.2417A>T (p.Tyr806Phe) c.2408A>T (p.Tyr803Phe) c.2343A>T c.2357A>T (p.Tyr786Phe) c.2396A>T (p.Tyr799Phe) c.1134A>T c.2384A>T (p.Tyr795Phe) c.275A>T (p.Tyr92Phe) n.372A>T n.1997A>T c.1345A>T c.418A>T | dbSNP |
12 | g.6593513T>C | CA383593377 | CHD4 | c.2378A>G (p.Tyr793Cys) c.2417A>G (p.Tyr806Cys) c.2408A>G (p.Tyr803Cys) c.2343A>G c.2357A>G (p.Tyr786Cys) c.2396A>G (p.Tyr799Cys) c.1134A>G c.2384A>G (p.Tyr795Cys) c.275A>G (p.Tyr92Cys) n.372A>G n.1997A>G c.1345A>G c.418A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6593513T>G | CA383593374 | CHD4 | c.2378A>C (p.Tyr793Ser) c.2417A>C (p.Tyr806Ser) c.2408A>C (p.Tyr803Ser) c.2343A>C c.2357A>C (p.Tyr786Ser) c.2396A>C (p.Tyr799Ser) c.1134A>C c.2384A>C (p.Tyr795Ser) c.275A>C (p.Tyr92Ser) n.372A>C n.1997A>C c.1345A>C c.418A>C | |
12 | g.6593513T= | CA2014149577 | CHD4 | c.2378A= (p.Tyr793=) c.2417A= (p.Tyr806=) c.2408A= (p.Tyr803=) c.2343A= c.2357A= (p.Tyr786=) c.2396A= (p.Tyr799=) c.1134A= c.2384A= (p.Tyr795=) c.275A= (p.Tyr92=) n.372A= n.1997A= c.1345A= c.418A= | |
12 | g.6593514A>C | CA383593380 | CHD4 | c.2377T>G (p.Tyr793Asp) c.2416T>G (p.Tyr806Asp) c.2407T>G (p.Tyr803Asp) c.2342T>G c.2356T>G (p.Tyr786Asp) c.2395T>G (p.Tyr799Asp) c.1133T>G c.2383T>G (p.Tyr795Asp) c.274T>G (p.Tyr92Asp) n.371T>G n.1996T>G c.1344T>G c.417T>G | |
12 | g.6593514A>G | CA383593385 | CHD4 | c.2377T>C (p.Tyr793His) c.2416T>C (p.Tyr806His) c.2407T>C (p.Tyr803His) c.2342T>C c.2356T>C (p.Tyr786His) c.2395T>C (p.Tyr799His) c.1133T>C c.2383T>C (p.Tyr795His) c.274T>C (p.Tyr92His) n.371T>C n.1996T>C c.1344T>C c.417T>C | |
12 | g.6593514A>T | CA383593382 | CHD4 | c.2377T>A (p.Tyr793Asn) c.2416T>A (p.Tyr806Asn) c.2407T>A (p.Tyr803Asn) c.2342T>A c.2356T>A (p.Tyr786Asn) c.2395T>A (p.Tyr799Asn) c.1133T>A c.2383T>A (p.Tyr795Asn) c.274T>A (p.Tyr92Asn) n.371T>A n.1996T>A c.1344T>A c.417T>A | |
12 | g.6593515G>A | CA478132941 | CHD4 | c.2376C>T (p.Thr792=) c.2415C>T (p.Thr805=) c.2406C>T (p.Thr802=) c.2341C>T c.2355C>T (p.Thr785=) c.2394C>T (p.Thr798=) c.1132C>T c.2382C>T (p.Thr794=) c.273C>T (p.Thr91=) n.370C>T n.1995C>T c.1343C>T c.416C>T | |
12 | g.6593515G>C | CA6411968 | CHD4 | c.2376C>G (p.Thr792=) c.2415C>G (p.Thr805=) c.2406C>G (p.Thr802=) c.2341C>G c.2355C>G (p.Thr785=) c.2394C>G (p.Thr798=) c.1132C>G c.2382C>G (p.Thr794=) c.273C>G (p.Thr91=) n.370C>G n.1995C>G c.1343C>G c.416C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6593515G= | CA2014149578 | CHD4 | c.2376C= (p.Thr792=) c.2415C= (p.Thr805=) c.2406C= (p.Thr802=) c.2341C= c.2355C= (p.Thr785=) c.2394C= (p.Thr798=) c.1132C= c.2382C= (p.Thr794=) c.273C= (p.Thr91=) n.370C= n.1995C= c.1343C= c.416C= | |
12 | g.6593515G>T | CA478132942 | CHD4 | c.2376C>A (p.Thr792=) c.2415C>A (p.Thr805=) c.2406C>A (p.Thr802=) c.2341C>A c.2355C>A (p.Thr785=) c.2394C>A (p.Thr798=) c.1132C>A c.2382C>A (p.Thr794=) c.273C>A (p.Thr91=) n.370C>A n.1995C>A c.1343C>A c.416C>A | |
12 | g.6593516G>A | CA383593388 | CHD4 | c.2375C>T (p.Thr792Ile) c.2414C>T (p.Thr805Ile) c.2405C>T (p.Thr802Ile) c.2340C>T c.2354C>T (p.Thr785Ile) c.2393C>T (p.Thr798Ile) c.1131C>T c.2381C>T (p.Thr794Ile) c.272C>T (p.Thr91Ile) n.369C>T n.1994C>T c.1342C>T c.415C>T | |
12 | g.6593516G>C | CA383593389 | CHD4 | c.2375C>G (p.Thr792Ser) c.2414C>G (p.Thr805Ser) c.2405C>G (p.Thr802Ser) c.2340C>G c.2354C>G (p.Thr785Ser) c.2393C>G (p.Thr798Ser) c.1131C>G c.2381C>G (p.Thr794Ser) c.272C>G (p.Thr91Ser) n.369C>G n.1994C>G c.1342C>G c.415C>G | dbSNP |
12 | g.6593516G>T | CA383593390 | CHD4 | c.2375C>A (p.Thr792Asn) c.2414C>A (p.Thr805Asn) c.2405C>A (p.Thr802Asn) c.2340C>A c.2354C>A (p.Thr785Asn) c.2393C>A (p.Thr798Asn) c.1131C>A c.2381C>A (p.Thr794Asn) c.272C>A (p.Thr91Asn) n.369C>A n.1994C>A c.1342C>A c.415C>A | |
12 | g.6593517T>A | CA383593392 | CHD4 | c.2374A>T (p.Thr792Ser) c.2413A>T (p.Thr805Ser) c.2404A>T (p.Thr802Ser) c.2339A>T c.2353A>T (p.Thr785Ser) c.2392A>T (p.Thr798Ser) c.1130A>T c.2380A>T (p.Thr794Ser) c.271A>T (p.Thr91Ser) n.368A>T n.1993A>T c.1341A>T c.414A>T | |
12 | g.6593517T>C | CA383593393 | CHD4 | c.2374A>G (p.Thr792Ala) c.2413A>G (p.Thr805Ala) c.2404A>G (p.Thr802Ala) c.2339A>G c.2353A>G (p.Thr785Ala) c.2392A>G (p.Thr798Ala) c.1130A>G c.2380A>G (p.Thr794Ala) c.271A>G (p.Thr91Ala) n.368A>G n.1993A>G c.1341A>G c.414A>G | |
12 | g.6593517T>G | CA383593395 | CHD4 | c.2374A>C (p.Thr792Pro) c.2413A>C (p.Thr805Pro) c.2404A>C (p.Thr802Pro) c.2339A>C c.2353A>C (p.Thr785Pro) c.2392A>C (p.Thr798Pro) c.1130A>C c.2380A>C (p.Thr794Pro) c.271A>C (p.Thr91Pro) n.368A>C n.1993A>C c.1341A>C c.414A>C | |
12 | g.6593518T>A | CA478132948 | CHD4 | c.2373A>T (p.Val791=) c.2412A>T (p.Val804=) c.2403A>T (p.Val801=) c.2338A>T c.2352A>T (p.Val784=) c.2391A>T (p.Val797=) c.1129A>T c.2379A>T (p.Val793=) c.270A>T (p.Val90=) n.367A>T n.1992A>T c.1340A>T c.413A>T | |
12 | g.6593518T>C | CA478132947 | CHD4 | c.2373A>G (p.Val791=) c.2412A>G (p.Val804=) c.2403A>G (p.Val801=) c.2338A>G c.2352A>G (p.Val784=) c.2391A>G (p.Val797=) c.1129A>G c.2379A>G (p.Val793=) c.270A>G (p.Val90=) n.367A>G n.1992A>G c.1340A>G c.413A>G | |
12 | g.6593518T>G | CA478132946 | CHD4 | c.2373A>C (p.Val791=) c.2412A>C (p.Val804=) c.2403A>C (p.Val801=) c.2338A>C c.2352A>C (p.Val784=) c.2391A>C (p.Val797=) c.1129A>C c.2379A>C (p.Val793=) c.270A>C (p.Val90=) n.367A>C n.1992A>C c.1340A>C c.413A>C | |
12 | g.6593519A>C | CA383593398 | CHD4 | c.2372T>G (p.Val791Gly) c.2411T>G (p.Val804Gly) c.2402T>G (p.Val801Gly) c.2337T>G c.2351T>G (p.Val784Gly) c.2390T>G (p.Val797Gly) c.1128T>G c.2378T>G (p.Val793Gly) c.269T>G (p.Val90Gly) n.366T>G n.1991T>G c.1339T>G c.412T>G | |
12 | g.6593519A>G | CA383593399 | CHD4 | c.2372T>C (p.Val791Ala) c.2411T>C (p.Val804Ala) c.2402T>C (p.Val801Ala) c.2337T>C c.2351T>C (p.Val784Ala) c.2390T>C (p.Val797Ala) c.1128T>C c.2378T>C (p.Val793Ala) c.269T>C (p.Val90Ala) n.366T>C n.1991T>C c.1339T>C c.412T>C | |
12 | g.6593519A>T | CA383593402 | CHD4 | c.2372T>A (p.Val791Glu) c.2411T>A (p.Val804Glu) c.2402T>A (p.Val801Glu) c.2337T>A c.2351T>A (p.Val784Glu) c.2390T>A (p.Val797Glu) c.1128T>A c.2378T>A (p.Val793Glu) c.269T>A (p.Val90Glu) n.366T>A n.1991T>A c.1339T>A c.412T>A | |
12 | g.6593520C>A | CA383593406 | CHD4 | c.2371G>T (p.Val791Leu) c.2410G>T (p.Val804Leu) c.2401G>T (p.Val801Leu) c.2336G>T c.2350G>T (p.Val784Leu) c.2389G>T (p.Val797Leu) c.1127G>T c.2377G>T (p.Val793Leu) c.268G>T (p.Val90Leu) n.365G>T n.1990G>T c.1338G>T c.411G>T | |
12 | g.6593520C= | CA2014149581 | CHD4 | c.2371G= (p.Val791=) c.2410G= (p.Val804=) c.2401G= (p.Val801=) c.2336G= c.2350G= (p.Val784=) c.2389G= (p.Val797=) c.1127G= c.2377G= (p.Val793=) c.268G= (p.Val90=) n.365G= n.1990G= c.1338G= c.411G= | |
12 | g.6593520C>G | CA383593408 | CHD4 | c.2371G>C (p.Val791Leu) c.2410G>C (p.Val804Leu) c.2401G>C (p.Val801Leu) c.2336G>C c.2350G>C (p.Val784Leu) c.2389G>C (p.Val797Leu) c.1127G>C c.2377G>C (p.Val793Leu) c.268G>C (p.Val90Leu) n.365G>C n.1990G>C c.1338G>C c.411G>C | |
12 | g.6593520C>T | CA383593410 | CHD4 | c.2371G>A (p.Val791Ile) c.2410G>A (p.Val804Ile) c.2401G>A (p.Val801Ile) c.2336G>A c.2350G>A (p.Val784Ile) c.2389G>A (p.Val797Ile) c.1127G>A c.2377G>A (p.Val793Ile) c.268G>A (p.Val90Ile) n.365G>A n.1990G>A c.1338G>A c.411G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
12 | g.6593521G>A | CA6411969 | CHD4 | c.2370C>T (p.Val790=) c.2409C>T (p.Val803=) c.2400C>T (p.Val800=) c.2335C>T c.2349C>T (p.Val783=) c.2388C>T (p.Val796=) c.1126C>T c.2376C>T (p.Val792=) c.267C>T (p.Val89=) n.364C>T n.1989C>T c.1337C>T c.410C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6593521G>C | CA478132950 | CHD4 | c.2370C>G (p.Val790=) c.2409C>G (p.Val803=) c.2400C>G (p.Val800=) c.2335C>G c.2349C>G (p.Val783=) c.2388C>G (p.Val796=) c.1126C>G c.2376C>G (p.Val792=) c.267C>G (p.Val89=) n.364C>G n.1989C>G c.1337C>G c.410C>G | |
12 | g.6593521G= | CA2014149584 | CHD4 | c.2370C= (p.Val790=) c.2409C= (p.Val803=) c.2400C= (p.Val800=) c.2335C= c.2349C= (p.Val783=) c.2388C= (p.Val796=) c.1126C= c.2376C= (p.Val792=) c.267C= (p.Val89=) n.364C= n.1989C= c.1337C= c.410C= | |
12 | g.6593521G>T | CA478132951 | CHD4 | c.2370C>A (p.Val790=) c.2409C>A (p.Val803=) c.2400C>A (p.Val800=) c.2335C>A c.2349C>A (p.Val783=) c.2388C>A (p.Val796=) c.1126C>A c.2376C>A (p.Val792=) c.267C>A (p.Val89=) n.364C>A n.1989C>A c.1337C>A c.410C>A | dbSNP |
12 | g.6593522A>C | CA383593416 | CHD4 | c.2369T>G (p.Val790Gly) c.2408T>G (p.Val803Gly) c.2399T>G (p.Val800Gly) c.2334T>G c.2348T>G (p.Val783Gly) c.2387T>G (p.Val796Gly) c.1125T>G c.2375T>G (p.Val792Gly) c.266T>G (p.Val89Gly) n.363T>G n.1988T>G c.1336T>G c.409T>G | |
12 | g.6593522A>G | CA383593419 | CHD4 | c.2369T>C (p.Val790Ala) c.2408T>C (p.Val803Ala) c.2399T>C (p.Val800Ala) c.2334T>C c.2348T>C (p.Val783Ala) c.2387T>C (p.Val796Ala) c.1125T>C c.2375T>C (p.Val792Ala) c.266T>C (p.Val89Ala) n.363T>C n.1988T>C c.1336T>C c.409T>C | gnomAD v4 |
12 | g.6593522A>T | CA383593422 | CHD4 | c.2369T>A (p.Val790Asp) c.2408T>A (p.Val803Asp) c.2399T>A (p.Val800Asp) c.2334T>A c.2348T>A (p.Val783Asp) c.2387T>A (p.Val796Asp) c.1125T>A c.2375T>A (p.Val792Asp) c.266T>A (p.Val89Asp) n.363T>A n.1988T>A c.1336T>A c.409T>A | |
12 | g.6593523C>A | CA383593426 | CHD4 | c.2368G>T (p.Val790Phe) c.2407G>T (p.Val803Phe) c.2398G>T (p.Val800Phe) c.2333G>T c.2347G>T (p.Val783Phe) c.2386G>T (p.Val796Phe) c.1124G>T c.2374G>T (p.Val792Phe) c.265G>T (p.Val89Phe) n.362G>T n.1987G>T c.1335G>T c.408G>T | |
12 | g.6593523C>G | CA383593429 | CHD4 | c.2368G>C (p.Val790Leu) c.2407G>C (p.Val803Leu) c.2398G>C (p.Val800Leu) c.2333G>C c.2347G>C (p.Val783Leu) c.2386G>C (p.Val796Leu) c.1124G>C c.2374G>C (p.Val792Leu) c.265G>C (p.Val89Leu) n.362G>C n.1987G>C c.1335G>C c.408G>C | |
12 | g.6593523C>T | CA383593431 | CHD4 | c.2368G>A (p.Val790Ile) c.2407G>A (p.Val803Ile) c.2398G>A (p.Val800Ile) c.2333G>A c.2347G>A (p.Val783Ile) c.2386G>A (p.Val796Ile) c.1124G>A c.2374G>A (p.Val792Ile) c.265G>A (p.Val89Ile) n.362G>A n.1987G>A c.1335G>A c.408G>A | gnomAD v4 |
12 | g.6593524A>C | CA383593434 | CHD4 | c.2367T>G (p.Tyr789Ter) c.2406T>G (p.Tyr802Ter) c.2397T>G (p.Tyr799Ter) c.2332T>G c.2346T>G (p.Tyr782Ter) c.2385T>G (p.Tyr795Ter) c.1123T>G c.2373T>G (p.Tyr791Ter) c.264T>G (p.Tyr88Ter) n.361T>G n.1986T>G c.1334T>G c.407T>G | |
12 | g.6593524A>G | CA478132956 | CHD4 | c.2367T>C (p.Tyr789=) c.2406T>C (p.Tyr802=) c.2397T>C (p.Tyr799=) c.2332T>C c.2346T>C (p.Tyr782=) c.2385T>C (p.Tyr795=) c.1123T>C c.2373T>C (p.Tyr791=) c.264T>C (p.Tyr88=) n.361T>C n.1986T>C c.1334T>C c.407T>C | |
12 | g.6593524A>T | CA383593438 | CHD4 | c.2367T>A (p.Tyr789Ter) c.2406T>A (p.Tyr802Ter) c.2397T>A (p.Tyr799Ter) c.2332T>A c.2346T>A (p.Tyr782Ter) c.2385T>A (p.Tyr795Ter) c.1123T>A c.2373T>A (p.Tyr791Ter) c.264T>A (p.Tyr88Ter) n.361T>A n.1986T>A c.1334T>A c.407T>A | |
12 | g.6593525T>A | CA383593441 | CHD4 | c.2366A>T (p.Tyr789Phe) c.2405A>T (p.Tyr802Phe) c.2396A>T (p.Tyr799Phe) c.2331A>T c.2345A>T (p.Tyr782Phe) c.2384A>T (p.Tyr795Phe) c.1122A>T c.2372A>T (p.Tyr791Phe) c.263A>T (p.Tyr88Phe) n.360A>T n.1985A>T c.1333A>T c.406A>T | |
12 | g.6593525T>C | CA383593443 | CHD4 | c.2366A>G (p.Tyr789Cys) c.2405A>G (p.Tyr802Cys) c.2396A>G (p.Tyr799Cys) c.2331A>G c.2345A>G (p.Tyr782Cys) c.2384A>G (p.Tyr795Cys) c.1122A>G c.2372A>G (p.Tyr791Cys) c.263A>G (p.Tyr88Cys) n.360A>G n.1985A>G c.1333A>G c.406A>G | COSMIC COSMIC COSMIC |
12 | g.6593525T>G | CA383593446 | CHD4 | c.2366A>C (p.Tyr789Ser) c.2405A>C (p.Tyr802Ser) c.2396A>C (p.Tyr799Ser) c.2331A>C c.2345A>C (p.Tyr782Ser) c.2384A>C (p.Tyr795Ser) c.1122A>C c.2372A>C (p.Tyr791Ser) c.263A>C (p.Tyr88Ser) n.360A>C n.1985A>C c.1333A>C c.406A>C | |
12 | g.6593526A= | CA2014149587 | CHD4 | c.2365T= (p.Tyr789=) c.2404T= (p.Tyr802=) c.2395T= (p.Tyr799=) c.2330T= c.2344T= (p.Tyr782=) c.2383T= (p.Tyr795=) c.1121T= c.2371T= (p.Tyr791=) c.262T= (p.Tyr88=) n.359T= n.1984T= c.1332T= c.405T= | |
12 | g.6593526A>C | CA383593454 | CHD4 | c.2365T>G (p.Tyr789Asp) c.2404T>G (p.Tyr802Asp) c.2395T>G (p.Tyr799Asp) c.2330T>G c.2344T>G (p.Tyr782Asp) c.2383T>G (p.Tyr795Asp) c.1121T>G c.2371T>G (p.Tyr791Asp) c.262T>G (p.Tyr88Asp) n.359T>G n.1984T>G c.1332T>G c.405T>G | |
12 | g.6593526A>G | CA6411970 | CHD4 | c.2365T>C (p.Tyr789His) c.2404T>C (p.Tyr802His) c.2395T>C (p.Tyr799His) c.2330T>C c.2344T>C (p.Tyr782His) c.2383T>C (p.Tyr795His) c.1121T>C c.2371T>C (p.Tyr791His) c.262T>C (p.Tyr88His) n.359T>C n.1984T>C c.1332T>C c.405T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6593526A>T | CA383593450 | CHD4 | c.2365T>A (p.Tyr789Asn) c.2404T>A (p.Tyr802Asn) c.2395T>A (p.Tyr799Asn) c.2330T>A c.2344T>A (p.Tyr782Asn) c.2383T>A (p.Tyr795Asn) c.1121T>A c.2371T>A (p.Tyr791Asn) c.262T>A (p.Tyr88Asn) n.359T>A n.1984T>A c.1332T>A c.405T>A | |
12 | g.6593527C>A | CA383593459 | CHD4 | c.2364G>T (p.Met788Ile) c.2403G>T (p.Met801Ile) c.2394G>T (p.Met798Ile) c.2329G>T c.2343G>T (p.Met781Ile) c.2382G>T (p.Met794Ile) c.1120G>T c.2370G>T (p.Met790Ile) c.261G>T (p.Met87Ile) n.358G>T n.1983G>T c.1331G>T c.404G>T | |
12 | g.6593527C>G | CA383593462 | CHD4 | c.2364G>C (p.Met788Ile) c.2403G>C (p.Met801Ile) c.2394G>C (p.Met798Ile) c.2329G>C c.2343G>C (p.Met781Ile) c.2382G>C (p.Met794Ile) c.1120G>C c.2370G>C (p.Met790Ile) c.261G>C (p.Met87Ile) n.358G>C n.1983G>C c.1331G>C c.404G>C | |
12 | g.6593527C>T | CA383593465 | CHD4 | c.2364G>A (p.Met788Ile) c.2403G>A (p.Met801Ile) c.2394G>A (p.Met798Ile) c.2329G>A c.2343G>A (p.Met781Ile) c.2382G>A (p.Met794Ile) c.1120G>A c.2370G>A (p.Met790Ile) c.261G>A (p.Met87Ile) n.358G>A n.1983G>A c.1331G>A c.404G>A | gnomAD v4 |
12 | g.6593528A>C | CA383593468 | CHD4 | c.2363T>G (p.Met788Arg) c.2402T>G (p.Met801Arg) c.2393T>G (p.Met798Arg) c.2328T>G c.2342T>G (p.Met781Arg) c.2381T>G (p.Met794Arg) c.1119T>G c.2369T>G (p.Met790Arg) c.260T>G (p.Met87Arg) n.357T>G n.1982T>G c.1330T>G c.403T>G | |
12 | g.6593528A>G | CA383593469 | CHD4 | c.2363T>C (p.Met788Thr) c.2402T>C (p.Met801Thr) c.2393T>C (p.Met798Thr) c.2328T>C c.2342T>C (p.Met781Thr) c.2381T>C (p.Met794Thr) c.1119T>C c.2369T>C (p.Met790Thr) c.260T>C (p.Met87Thr) n.357T>C n.1982T>C c.1330T>C c.403T>C | |
12 | g.6593528A>T | CA383593470 | CHD4 | c.2363T>A (p.Met788Lys) c.2402T>A (p.Met801Lys) c.2393T>A (p.Met798Lys) c.2328T>A c.2342T>A (p.Met781Lys) c.2381T>A (p.Met794Lys) c.1119T>A c.2369T>A (p.Met790Lys) c.260T>A (p.Met87Lys) n.357T>A n.1982T>A c.1330T>A c.403T>A | |
12 | g.6593529T>A | CA383593473 | CHD4 | c.2362A>T (p.Met788Leu) c.2401A>T (p.Met801Leu) c.2392A>T (p.Met798Leu) c.2327A>T c.2341A>T (p.Met781Leu) c.2380A>T (p.Met794Leu) c.1118A>T c.2368A>T (p.Met790Leu) c.259A>T (p.Met87Leu) n.356A>T n.1981A>T c.1329A>T c.402A>T | |
12 | g.6593529T>C | CA383593475 | CHD4 | c.2362A>G (p.Met788Val) c.2401A>G (p.Met801Val) c.2392A>G (p.Met798Val) c.2327A>G c.2341A>G (p.Met781Val) c.2380A>G (p.Met794Val) c.1118A>G c.2368A>G (p.Met790Val) c.259A>G (p.Met87Val) n.356A>G n.1981A>G c.1329A>G c.402A>G | |
12 | g.6593529T>G | CA383593477 | CHD4 | c.2362A>C (p.Met788Leu) c.2401A>C (p.Met801Leu) c.2392A>C (p.Met798Leu) c.2327A>C c.2341A>C (p.Met781Leu) c.2380A>C (p.Met794Leu) c.1118A>C c.2368A>C (p.Met790Leu) c.259A>C (p.Met87Leu) n.356A>C n.1981A>C c.1329A>C c.402A>C | dbSNP |
12 | g.6593529T= | CA2014149590 | CHD4 | c.2362A= (p.Met788=) c.2401A= (p.Met801=) c.2392A= (p.Met798=) c.2327A= c.2341A= (p.Met781=) c.2380A= (p.Met794=) c.1118A= c.2368A= (p.Met790=) c.259A= (p.Met87=) n.356A= n.1981A= c.1329A= c.402A= | |
12 | g.6593530G>A | CA6411971 | CHD4 | c.2361C>T (p.Asp787=) c.2400C>T (p.Asp800=) c.2391C>T (p.Asp797=) c.2326C>T c.2340C>T (p.Asp780=) c.2379C>T (p.Asp793=) c.1117C>T c.2367C>T (p.Asp789=) c.258C>T (p.Asp86=) n.355C>T n.1980C>T c.1328C>T c.401C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6593530G>C | CA383593483 | CHD4 | c.2361C>G (p.Asp787Glu) c.2400C>G (p.Asp800Glu) c.2391C>G (p.Asp797Glu) c.2326C>G c.2340C>G (p.Asp780Glu) c.2379C>G (p.Asp793Glu) c.1117C>G c.2367C>G (p.Asp789Glu) c.258C>G (p.Asp86Glu) n.355C>G n.1980C>G c.1328C>G c.401C>G | dbSNP |
12 | g.6593530G= | CA2014149592 | CHD4 | c.2361C= (p.Asp787=) c.2400C= (p.Asp800=) c.2391C= (p.Asp797=) c.2326C= c.2340C= (p.Asp780=) c.2379C= (p.Asp793=) c.1117C= c.2367C= (p.Asp789=) c.258C= (p.Asp86=) n.355C= n.1980C= c.1328C= c.401C= | |
12 | g.6593530G>T | CA383593486 | CHD4 | c.2361C>A (p.Asp787Glu) c.2400C>A (p.Asp800Glu) c.2391C>A (p.Asp797Glu) c.2326C>A c.2340C>A (p.Asp780Glu) c.2379C>A (p.Asp793Glu) c.1117C>A c.2367C>A (p.Asp789Glu) c.258C>A (p.Asp86Glu) n.355C>A n.1980C>A c.1328C>A c.401C>A | |
12 | g.6593531T>A | CA383593495 | CHD4 | c.2360A>T (p.Asp787Val) c.2399A>T (p.Asp800Val) c.2390A>T (p.Asp797Val) c.2325A>T c.2339A>T (p.Asp780Val) c.2378A>T (p.Asp793Val) c.1116A>T c.2366A>T (p.Asp789Val) c.257A>T (p.Asp86Val) n.354A>T n.1979A>T c.1327A>T c.400A>T | |
12 | g.6593531T>C | CA383593492 | CHD4 | c.2360A>G (p.Asp787Gly) c.2399A>G (p.Asp800Gly) c.2390A>G (p.Asp797Gly) c.2325A>G c.2339A>G (p.Asp780Gly) c.2378A>G (p.Asp793Gly) c.1116A>G c.2366A>G (p.Asp789Gly) c.257A>G (p.Asp86Gly) n.354A>G n.1979A>G c.1327A>G c.400A>G | |
12 | g.6593531T>G | CA383593489 | CHD4 | c.2360A>C (p.Asp787Ala) c.2399A>C (p.Asp800Ala) c.2390A>C (p.Asp797Ala) c.2325A>C c.2339A>C (p.Asp780Ala) c.2378A>C (p.Asp793Ala) c.1116A>C c.2366A>C (p.Asp789Ala) c.257A>C (p.Asp86Ala) n.354A>C n.1979A>C c.1327A>C c.400A>C | |
12 | g.6593532C>A | CA383593498 | CHD4 | c.2359G>T (p.Asp787Tyr) c.2398G>T (p.Asp800Tyr) c.2389G>T (p.Asp797Tyr) c.2324G>T c.2338G>T (p.Asp780Tyr) c.2377G>T (p.Asp793Tyr) c.1115G>T c.2365G>T (p.Asp789Tyr) c.256G>T (p.Asp86Tyr) n.353G>T n.1978G>T c.1326G>T c.399G>T | |
12 | g.6593532C>G | CA383593501 | CHD4 | c.2359G>C (p.Asp787His) c.2398G>C (p.Asp800His) c.2389G>C (p.Asp797His) c.2324G>C c.2338G>C (p.Asp780His) c.2377G>C (p.Asp793His) c.1115G>C c.2365G>C (p.Asp789His) c.256G>C (p.Asp86His) n.353G>C n.1978G>C c.1326G>C c.399G>C | |
12 | g.6593532C>T | CA383593503 | CHD4 | c.2359G>A (p.Asp787Asn) c.2398G>A (p.Asp800Asn) c.2389G>A (p.Asp797Asn) c.2324G>A c.2338G>A (p.Asp780Asn) c.2377G>A (p.Asp793Asn) c.1115G>A c.2365G>A (p.Asp789Asn) c.256G>A (p.Asp86Asn) n.353G>A n.1978G>A c.1326G>A c.399G>A | |
12 | g.6593533T>A | CA478132961 | CHD4 | c.2358A>T (p.Pro786=) c.2397A>T (p.Pro799=) c.2388A>T (p.Pro796=) c.2323A>T c.2337A>T (p.Pro779=) c.2376A>T (p.Pro792=) c.1114A>T c.2364A>T (p.Pro788=) c.255A>T (p.Pro85=) n.352A>T n.1977A>T c.1325A>T c.398A>T | |
12 | g.6593533T>C | CA478132962 | CHD4 | c.2358A>G (p.Pro786=) c.2397A>G (p.Pro799=) c.2388A>G (p.Pro796=) c.2323A>G c.2337A>G (p.Pro779=) c.2376A>G (p.Pro792=) c.1114A>G c.2364A>G (p.Pro788=) c.255A>G (p.Pro85=) n.352A>G n.1977A>G c.1325A>G c.398A>G | |
12 | g.6593533T>G | CA6411972 | CHD4 | c.2358A>C (p.Pro786=) c.2397A>C (p.Pro799=) c.2388A>C (p.Pro796=) c.2323A>C c.2337A>C (p.Pro779=) c.2376A>C (p.Pro792=) c.1114A>C c.2364A>C (p.Pro788=) c.255A>C (p.Pro85=) n.352A>C n.1977A>C c.1325A>C c.398A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6593533T= | CA2014149595 | CHD4 | c.2358A= (p.Pro786=) c.2397A= (p.Pro799=) c.2388A= (p.Pro796=) c.2323A= c.2337A= (p.Pro779=) c.2376A= (p.Pro792=) c.1114A= c.2364A= (p.Pro788=) c.255A= (p.Pro85=) n.352A= n.1977A= c.1325A= c.398A= | |
12 | g.6593534G>A | CA383593510 | CHD4 | c.2357C>T (p.Pro786Leu) c.2396C>T (p.Pro799Leu) c.2387C>T (p.Pro796Leu) c.2322C>T c.2336C>T (p.Pro779Leu) c.2375C>T (p.Pro792Leu) c.1113C>T c.2363C>T (p.Pro788Leu) c.254C>T (p.Pro85Leu) n.351C>T n.1976C>T c.1324C>T c.397C>T | dbSNP |
12 | g.6593534G>C | CA383593513 | CHD4 | c.2357C>G (p.Pro786Arg) c.2396C>G (p.Pro799Arg) c.2387C>G (p.Pro796Arg) c.2322C>G c.2336C>G (p.Pro779Arg) c.2375C>G (p.Pro792Arg) c.1113C>G c.2363C>G (p.Pro788Arg) c.254C>G (p.Pro85Arg) n.351C>G n.1976C>G c.1324C>G c.397C>G | |
12 | g.6593534G= | CA2014149597 | CHD4 | c.2357C= (p.Pro786=) c.2396C= (p.Pro799=) c.2387C= (p.Pro796=) c.2322C= c.2336C= (p.Pro779=) c.2375C= (p.Pro792=) c.1113C= c.2363C= (p.Pro788=) c.254C= (p.Pro85=) n.351C= n.1976C= c.1324C= c.397C= | |
12 | g.6593534G>T | CA383593515 | CHD4 | c.2357C>A (p.Pro786Gln) c.2396C>A (p.Pro799Gln) c.2387C>A (p.Pro796Gln) c.2322C>A c.2336C>A (p.Pro779Gln) c.2375C>A (p.Pro792Gln) c.1113C>A c.2363C>A (p.Pro788Gln) c.254C>A (p.Pro85Gln) n.351C>A n.1976C>A c.1324C>A c.397C>A | |
12 | g.6593535G>A | CA232393026 | CHD4 | c.2356C>T (p.Pro786Ser) c.2395C>T (p.Pro799Ser) c.2386C>T (p.Pro796Ser) c.2321C>T c.2335C>T (p.Pro779Ser) c.2374C>T (p.Pro792Ser) c.1112C>T c.2362C>T (p.Pro788Ser) c.253C>T (p.Pro85Ser) n.350C>T n.1975C>T c.1323C>T c.396C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6593535G>C | CA383593522 | CHD4 | c.2356C>G (p.Pro786Ala) c.2395C>G (p.Pro799Ala) c.2386C>G (p.Pro796Ala) c.2321C>G c.2335C>G (p.Pro779Ala) c.2374C>G (p.Pro792Ala) c.1112C>G c.2362C>G (p.Pro788Ala) c.253C>G (p.Pro85Ala) n.350C>G n.1975C>G c.1323C>G c.396C>G | gnomAD v4 COSMIC COSMIC COSMIC |
12 | g.6593535G= | CA2014149600 | CHD4 | c.2356C= (p.Pro786=) c.2395C= (p.Pro799=) c.2386C= (p.Pro796=) c.2321C= c.2335C= (p.Pro779=) c.2374C= (p.Pro792=) c.1112C= c.2362C= (p.Pro788=) c.253C= (p.Pro85=) n.350C= n.1975C= c.1323C= c.396C= | |
12 | g.6593535G>T | CA383593524 | CHD4 | c.2356C>A (p.Pro786Thr) c.2395C>A (p.Pro799Thr) c.2386C>A (p.Pro796Thr) c.2321C>A c.2335C>A (p.Pro779Thr) c.2374C>A (p.Pro792Thr) c.1112C>A c.2362C>A (p.Pro788Thr) c.253C>A (p.Pro85Thr) n.350C>A n.1975C>A c.1323C>A c.396C>A | |
12 | g.6593536A= | CA2014149603 | CHD4 | c.2355T= (p.Ala785=) c.2394T= (p.Ala798=) c.2385T= (p.Ala795=) c.2320T= c.2334T= (p.Ala778=) c.2373T= (p.Ala791=) c.1111T= c.2361T= (p.Ala787=) c.252T= (p.Ala84=) n.349T= n.1974T= c.1322T= c.395T= | |
12 | g.6593536A>C | CA478132967 | CHD4 | c.2355T>G (p.Ala785=) c.2394T>G (p.Ala798=) c.2385T>G (p.Ala795=) c.2320T>G c.2334T>G (p.Ala778=) c.2373T>G (p.Ala791=) c.1111T>G c.2361T>G (p.Ala787=) c.252T>G (p.Ala84=) n.349T>G n.1974T>G c.1322T>G c.395T>G | |
12 | g.6593536A>G | CA478132968 | CHD4 | c.2355T>C (p.Ala785=) c.2394T>C (p.Ala798=) c.2385T>C (p.Ala795=) c.2320T>C c.2334T>C (p.Ala778=) c.2373T>C (p.Ala791=) c.1111T>C c.2361T>C (p.Ala787=) c.252T>C (p.Ala84=) n.349T>C n.1974T>C c.1322T>C c.395T>C | dbSNP |
12 | g.6593536A>T | CA478132969 | CHD4 | c.2355T>A (p.Ala785=) c.2394T>A (p.Ala798=) c.2385T>A (p.Ala795=) c.2320T>A c.2334T>A (p.Ala778=) c.2373T>A (p.Ala791=) c.1111T>A c.2361T>A (p.Ala787=) c.252T>A (p.Ala84=) n.349T>A n.1974T>A c.1322T>A c.395T>A | |
12 | g.6593537G>A | CA383593528 | CHD4 | c.2354C>T (p.Ala785Val) c.2393C>T (p.Ala798Val) c.2384C>T (p.Ala795Val) c.2319C>T c.2333C>T (p.Ala778Val) c.2372C>T (p.Ala791Val) c.1110C>T c.2360C>T (p.Ala787Val) c.251C>T (p.Ala84Val) n.348C>T n.1973C>T c.1321C>T c.394C>T | |
12 | g.6593537G>C | CA383593534 | CHD4 | c.2354C>G (p.Ala785Gly) c.2393C>G (p.Ala798Gly) c.2384C>G (p.Ala795Gly) c.2319C>G c.2333C>G (p.Ala778Gly) c.2372C>G (p.Ala791Gly) c.1110C>G c.2360C>G (p.Ala787Gly) c.251C>G (p.Ala84Gly) n.348C>G n.1973C>G c.1321C>G c.394C>G | |
12 | g.6593537G>T | CA383593539 | CHD4 | c.2354C>A (p.Ala785Asp) c.2393C>A (p.Ala798Asp) c.2384C>A (p.Ala795Asp) c.2319C>A c.2333C>A (p.Ala778Asp) c.2372C>A (p.Ala791Asp) c.1110C>A c.2360C>A (p.Ala787Asp) c.251C>A (p.Ala84Asp) n.348C>A n.1973C>A c.1321C>A c.394C>A | |
12 | g.6593538C>A | CA383593548 | CHD4 | c.2353G>T (p.Ala785Ser) c.2392G>T (p.Ala798Ser) c.2383G>T (p.Ala795Ser) c.2318G>T c.2332G>T (p.Ala778Ser) c.2371G>T (p.Ala791Ser) c.1109G>T c.2359G>T (p.Ala787Ser) c.250G>T (p.Ala84Ser) n.347G>T n.1972G>T c.1320G>T c.393G>T | |
12 | g.6593538C>G | CA383593542 | CHD4 | c.2353G>C (p.Ala785Pro) c.2392G>C (p.Ala798Pro) c.2383G>C (p.Ala795Pro) c.2318G>C c.2332G>C (p.Ala778Pro) c.2371G>C (p.Ala791Pro) c.1109G>C c.2359G>C (p.Ala787Pro) c.250G>C (p.Ala84Pro) n.347G>C n.1972G>C c.1320G>C c.393G>C | |
12 | g.6593538C>T | CA383593540 | CHD4 | c.2353G>A (p.Ala785Thr) c.2392G>A (p.Ala798Thr) c.2383G>A (p.Ala795Thr) c.2318G>A c.2332G>A (p.Ala778Thr) c.2371G>A (p.Ala791Thr) c.1109G>A c.2359G>A (p.Ala787Thr) c.250G>A (p.Ala84Thr) n.347G>A n.1972G>A c.1320G>A c.393G>A | gnomAD v4 |
12 | g.6593540del | CA2575058132 | CHD4 | c.2353del (p.Ala785LeufsTer7) c.2392del (p.Ala798LeufsTer7) c.2383del (p.Ala795LeufsTer7) c.2318del c.2332del (p.Ala778LeufsTer7) c.2371del (p.Ala791LeufsTer7) c.1109del c.2359del (p.Ala787LeufsTer7) c.250del (p.Ala84LeufsTer7) n.347del n.1972del c.1320del c.393del | |
12 | g.6593539C>A | CA383593557 | CHD4 | c.2352G>T (p.Trp784Cys) c.2391G>T (p.Trp797Cys) c.2382G>T (p.Trp794Cys) c.2317G>T c.2331G>T (p.Trp777Cys) c.2370G>T (p.Trp790Cys) c.1108G>T c.2358G>T (p.Trp786Cys) c.249G>T (p.Trp83Cys) n.346G>T n.1971G>T c.1319G>T c.392G>T | |
12 | g.6593539C>G | CA383593553 | CHD4 | c.2352G>C (p.Trp784Cys) c.2391G>C (p.Trp797Cys) c.2382G>C (p.Trp794Cys) c.2317G>C c.2331G>C (p.Trp777Cys) c.2370G>C (p.Trp790Cys) c.1108G>C c.2358G>C (p.Trp786Cys) c.249G>C (p.Trp83Cys) n.346G>C n.1971G>C c.1319G>C c.392G>C | |
12 | g.6593539C>T | CA383593556 | CHD4 | c.2352G>A (p.Trp784Ter) c.2391G>A (p.Trp797Ter) c.2382G>A (p.Trp794Ter) c.2317G>A c.2331G>A (p.Trp777Ter) c.2370G>A (p.Trp790Ter) c.1108G>A c.2358G>A (p.Trp786Ter) c.249G>A (p.Trp83Ter) n.346G>A n.1971G>A c.1319G>A c.392G>A | |
12 | g.6593540C>A | CA383593558 | CHD4 | c.2351G>T (p.Trp784Leu) c.2390G>T (p.Trp797Leu) c.2381G>T (p.Trp794Leu) c.2316G>T c.2330G>T (p.Trp777Leu) c.2369G>T (p.Trp790Leu) c.1107G>T c.2357G>T (p.Trp786Leu) c.248G>T (p.Trp83Leu) n.345G>T n.1970G>T c.1318G>T c.391G>T | |
12 | g.6593540C>G | CA383593559 | CHD4 | c.2351G>C (p.Trp784Ser) c.2390G>C (p.Trp797Ser) c.2381G>C (p.Trp794Ser) c.2316G>C c.2330G>C (p.Trp777Ser) c.2369G>C (p.Trp790Ser) c.1107G>C c.2357G>C (p.Trp786Ser) c.248G>C (p.Trp83Ser) n.345G>C n.1970G>C c.1318G>C c.391G>C | |
12 | g.6593540C>T | CA383593560 | CHD4 | c.2351G>A (p.Trp784Ter) c.2390G>A (p.Trp797Ter) c.2381G>A (p.Trp794Ter) c.2316G>A c.2330G>A (p.Trp777Ter) c.2369G>A (p.Trp790Ter) c.1107G>A c.2357G>A (p.Trp786Ter) c.248G>A (p.Trp83Ter) n.345G>A n.1970G>A c.1318G>A c.391G>A | |
12 | g.6593541A>C | CA383593566 | CHD4 | c.2350T>G (p.Trp784Gly) c.2389T>G (p.Trp797Gly) c.2380T>G (p.Trp794Gly) c.2315T>G c.2329T>G (p.Trp777Gly) c.2368T>G (p.Trp790Gly) c.1106T>G c.2356T>G (p.Trp786Gly) c.247T>G (p.Trp83Gly) n.344T>G n.1969T>G c.1317T>G c.390T>G | |
12 | g.6593541A>G | CA383593563 | CHD4 | c.2350T>C (p.Trp784Arg) c.2389T>C (p.Trp797Arg) c.2380T>C (p.Trp794Arg) c.2315T>C c.2329T>C (p.Trp777Arg) c.2368T>C (p.Trp790Arg) c.1106T>C c.2356T>C (p.Trp786Arg) c.247T>C (p.Trp83Arg) n.344T>C n.1969T>C c.1317T>C c.390T>C | |
12 | g.6593541A>T | CA383593561 | CHD4 | c.2350T>A (p.Trp784Arg) c.2389T>A (p.Trp797Arg) c.2380T>A (p.Trp794Arg) c.2315T>A c.2329T>A (p.Trp777Arg) c.2368T>A (p.Trp790Arg) c.1106T>A c.2356T>A (p.Trp786Arg) c.247T>A (p.Trp83Arg) n.344T>A n.1969T>A c.1317T>A c.390T>A | |
12 | g.6593542C>A | CA383593572 | CHD4 | c.2349G>T (p.Met783Ile) c.2388G>T (p.Met796Ile) c.2379G>T (p.Met793Ile) c.2314G>T c.2328G>T (p.Met776Ile) c.2367G>T (p.Met789Ile) c.1105G>T c.2355G>T (p.Met785Ile) c.246G>T (p.Met82Ile) n.343G>T n.1968G>T c.1316G>T c.389G>T | dbSNP |
12 | g.6593542C= | CA2014149606 | CHD4 | c.2349G= (p.Met783=) c.2388G= (p.Met796=) c.2379G= (p.Met793=) c.2314G= c.2328G= (p.Met776=) c.2367G= (p.Met789=) c.1105G= c.2355G= (p.Met785=) c.246G= (p.Met82=) n.343G= n.1968G= c.1316G= c.389G= | |
12 | g.6593542C>G | CA383593574 | CHD4 | c.2349G>C (p.Met783Ile) c.2388G>C (p.Met796Ile) c.2379G>C (p.Met793Ile) c.2314G>C c.2328G>C (p.Met776Ile) c.2367G>C (p.Met789Ile) c.1105G>C c.2355G>C (p.Met785Ile) c.246G>C (p.Met82Ile) n.343G>C n.1968G>C c.1316G>C c.389G>C | |
12 | g.6593542C>T | CA383593575 | CHD4 | c.2349G>A (p.Met783Ile) c.2388G>A (p.Met796Ile) c.2379G>A (p.Met793Ile) c.2314G>A c.2328G>A (p.Met776Ile) c.2367G>A (p.Met789Ile) c.1105G>A c.2355G>A (p.Met785Ile) c.246G>A (p.Met82Ile) n.343G>A n.1968G>A c.1316G>A c.389G>A | dbSNP gnomAD v4 |
12 | g.6593543A>C | CA383593576 | CHD4 | c.2348T>G (p.Met783Arg) c.2387T>G (p.Met796Arg) c.2378T>G (p.Met793Arg) c.2313T>G c.2327T>G (p.Met776Arg) c.2366T>G (p.Met789Arg) c.1104T>G c.2354T>G (p.Met785Arg) c.245T>G (p.Met82Arg) n.342T>G n.1967T>G c.1315T>G c.388T>G | |
12 | g.6593543A>G | CA383593577 | CHD4 | c.2348T>C (p.Met783Thr) c.2387T>C (p.Met796Thr) c.2378T>C (p.Met793Thr) c.2313T>C c.2327T>C (p.Met776Thr) c.2366T>C (p.Met789Thr) c.1104T>C c.2354T>C (p.Met785Thr) c.245T>C (p.Met82Thr) n.342T>C n.1967T>C c.1315T>C c.388T>C | |
12 | g.6593543A>T | CA383593580 | CHD4 | c.2348T>A (p.Met783Lys) c.2387T>A (p.Met796Lys) c.2378T>A (p.Met793Lys) c.2313T>A c.2327T>A (p.Met776Lys) c.2366T>A (p.Met789Lys) c.1104T>A c.2354T>A (p.Met785Lys) c.245T>A (p.Met82Lys) n.342T>A n.1967T>A c.1315T>A c.388T>A | |
12 | g.6593544T>A | CA383593589 | CHD4 | c.2347A>T (p.Met783Leu) c.2386A>T (p.Met796Leu) c.2377A>T (p.Met793Leu) c.2312A>T c.2326A>T (p.Met776Leu) c.2365A>T (p.Met789Leu) c.1103A>T c.2353A>T (p.Met785Leu) c.244A>T (p.Met82Leu) n.341A>T n.1966A>T c.1314A>T c.387A>T | |
12 | g.6593544T>C | CA383593584 | CHD4 | c.2347A>G (p.Met783Val) c.2386A>G (p.Met796Val) c.2377A>G (p.Met793Val) c.2312A>G c.2326A>G (p.Met776Val) c.2365A>G (p.Met789Val) c.1103A>G c.2353A>G (p.Met785Val) c.244A>G (p.Met82Val) n.341A>G n.1966A>G c.1314A>G c.387A>G | |
12 | g.6593544T>G | CA383593587 | CHD4 | c.2347A>C (p.Met783Leu) c.2386A>C (p.Met796Leu) c.2377A>C (p.Met793Leu) c.2312A>C c.2326A>C (p.Met776Leu) c.2365A>C (p.Met789Leu) c.1103A>C c.2353A>C (p.Met785Leu) c.244A>C (p.Met82Leu) n.341A>C n.1966A>C c.1314A>C c.387A>C | |
12 | g.6593545T>A | CA383593592 | CHD4 | c.2346A>T (p.Glu782Asp) c.2385A>T (p.Glu795Asp) c.2376A>T (p.Glu792Asp) c.2311A>T c.2325A>T (p.Glu775Asp) c.2364A>T (p.Glu788Asp) c.1102A>T c.2352A>T (p.Glu784Asp) c.243A>T (p.Glu81Asp) n.340A>T n.1965A>T c.1313A>T c.386A>T | |
12 | g.6593545T>C | CA478132975 | CHD4 | c.2346A>G (p.Glu782=) c.2385A>G (p.Glu795=) c.2376A>G (p.Glu792=) c.2311A>G c.2325A>G (p.Glu775=) c.2364A>G (p.Glu788=) c.1102A>G c.2352A>G (p.Glu784=) c.243A>G (p.Glu81=) n.340A>G n.1965A>G c.1313A>G c.386A>G | |
12 | g.6593545T>G | CA383593596 | CHD4 | c.2346A>C (p.Glu782Asp) c.2385A>C (p.Glu795Asp) c.2376A>C (p.Glu792Asp) c.2311A>C c.2325A>C (p.Glu775Asp) c.2364A>C (p.Glu788Asp) c.1102A>C c.2352A>C (p.Glu784Asp) c.243A>C (p.Glu81Asp) n.340A>C n.1965A>C c.1313A>C c.386A>C | |
12 | g.6593546T>A | CA383593599 | CHD4 | c.2345A>T (p.Glu782Val) c.2384A>T (p.Glu795Val) c.2375A>T (p.Glu792Val) c.2310A>T c.2324A>T (p.Glu775Val) c.2363A>T (p.Glu788Val) c.1101A>T c.2351A>T (p.Glu784Val) c.242A>T (p.Glu81Val) n.339A>T n.1964A>T c.1312A>T c.385A>T | |
12 | g.6593546T>C | CA383593601 | CHD4 | c.2345A>G (p.Glu782Gly) c.2384A>G (p.Glu795Gly) c.2375A>G (p.Glu792Gly) c.2310A>G c.2324A>G (p.Glu775Gly) c.2363A>G (p.Glu788Gly) c.1101A>G c.2351A>G (p.Glu784Gly) c.242A>G (p.Glu81Gly) n.339A>G n.1964A>G c.1312A>G c.385A>G | |
12 | g.6593546T>G | CA383593603 | CHD4 | c.2345A>C (p.Glu782Ala) c.2384A>C (p.Glu795Ala) c.2375A>C (p.Glu792Ala) c.2310A>C c.2324A>C (p.Glu775Ala) c.2363A>C (p.Glu788Ala) c.1101A>C c.2351A>C (p.Glu784Ala) c.242A>C (p.Glu81Ala) n.339A>C n.1964A>C c.1312A>C c.385A>C | |
12 | g.6593547C>A | CA383593607 | CHD4 | c.2344G>T (p.Glu782Ter) c.2383G>T (p.Glu795Ter) c.2374G>T (p.Glu792Ter) c.2309G>T c.2323G>T (p.Glu775Ter) c.2362G>T (p.Glu788Ter) c.1100G>T c.2350G>T (p.Glu784Ter) c.241G>T (p.Glu81Ter) n.338G>T n.1963G>T c.1311G>T c.384G>T | |
12 | g.6593547C>G | CA383593609 | CHD4 | c.2344G>C (p.Glu782Gln) c.2383G>C (p.Glu795Gln) c.2374G>C (p.Glu792Gln) c.2309G>C c.2323G>C (p.Glu775Gln) c.2362G>C (p.Glu788Gln) c.1100G>C c.2350G>C (p.Glu784Gln) c.241G>C (p.Glu81Gln) n.338G>C n.1963G>C c.1311G>C c.384G>C | |
12 | g.6593547C>T | CA383593612 | CHD4 | c.2344G>A (p.Glu782Lys) c.2383G>A (p.Glu795Lys) c.2374G>A (p.Glu792Lys) c.2309G>A c.2323G>A (p.Glu775Lys) c.2362G>A (p.Glu788Lys) c.1100G>A c.2350G>A (p.Glu784Lys) c.241G>A (p.Glu81Lys) n.338G>A n.1963G>A c.1311G>A c.384G>A | |
12 | g.6593548A>C | CA383593614 | CHD4 | c.2343T>G (p.Phe781Leu) c.2382T>G (p.Phe794Leu) c.2373T>G (p.Phe791Leu) c.2308T>G c.2322T>G (p.Phe774Leu) c.2361T>G (p.Phe787Leu) c.1099T>G c.2349T>G (p.Phe783Leu) c.240T>G (p.Phe80Leu) n.337T>G n.1962T>G c.1310T>G c.383T>G | |
12 | g.6593548A>G | CA478132979 | CHD4 | c.2343T>C (p.Phe781=) c.2382T>C (p.Phe794=) c.2373T>C (p.Phe791=) c.2308T>C c.2322T>C (p.Phe774=) c.2361T>C (p.Phe787=) c.1099T>C c.2349T>C (p.Phe783=) c.240T>C (p.Phe80=) n.337T>C n.1962T>C c.1310T>C c.383T>C | |
12 | g.6593548A>T | CA383593621 | CHD4 | c.2343T>A (p.Phe781Leu) c.2382T>A (p.Phe794Leu) c.2373T>A (p.Phe791Leu) c.2308T>A c.2322T>A (p.Phe774Leu) c.2361T>A (p.Phe787Leu) c.1099T>A c.2349T>A (p.Phe783Leu) c.240T>A (p.Phe80Leu) n.337T>A n.1962T>A c.1310T>A c.383T>A | |
12 | g.6593549A>C | CA383593628 | CHD4 | c.2342T>G (p.Phe781Cys) c.2381T>G (p.Phe794Cys) c.2372T>G (p.Phe791Cys) c.2307T>G c.2321T>G (p.Phe774Cys) c.2360T>G (p.Phe787Cys) c.1098T>G c.2348T>G (p.Phe783Cys) c.239T>G (p.Phe80Cys) n.336T>G n.1961T>G c.1309T>G c.382T>G | |
12 | g.6593549A>G | CA383593630 | CHD4 | c.2342T>C (p.Phe781Ser) c.2381T>C (p.Phe794Ser) c.2372T>C (p.Phe791Ser) c.2307T>C c.2321T>C (p.Phe774Ser) c.2360T>C (p.Phe787Ser) c.1098T>C c.2348T>C (p.Phe783Ser) c.239T>C (p.Phe80Ser) n.336T>C n.1961T>C c.1309T>C c.382T>C | |
12 | g.6593549A>T | CA383593633 | CHD4 | c.2342T>A (p.Phe781Tyr) c.2381T>A (p.Phe794Tyr) c.2372T>A (p.Phe791Tyr) c.2307T>A c.2321T>A (p.Phe774Tyr) c.2360T>A (p.Phe787Tyr) c.1098T>A c.2348T>A (p.Phe783Tyr) c.239T>A (p.Phe80Tyr) n.336T>A n.1961T>A c.1309T>A c.382T>A | |
12 | g.6593550A>C | CA383593638 | CHD4 | c.2341T>G (p.Phe781Val) c.2380T>G (p.Phe794Val) c.2371T>G (p.Phe791Val) c.2306T>G c.2320T>G (p.Phe774Val) c.2359T>G (p.Phe787Val) c.1097T>G c.2347T>G (p.Phe783Val) c.238T>G (p.Phe80Val) n.335T>G n.1960T>G c.1308T>G c.381T>G | |
12 | g.6593550A>G | CA383593645 | CHD4 | c.2341T>C (p.Phe781Leu) c.2380T>C (p.Phe794Leu) c.2371T>C (p.Phe791Leu) c.2306T>C c.2320T>C (p.Phe774Leu) c.2359T>C (p.Phe787Leu) c.1097T>C c.2347T>C (p.Phe783Leu) c.238T>C (p.Phe80Leu) n.335T>C n.1960T>C c.1308T>C c.381T>C | |
12 | g.6593550A>T | CA383593640 | CHD4 | c.2341T>A (p.Phe781Ile) c.2380T>A (p.Phe794Ile) c.2371T>A (p.Phe791Ile) c.2306T>A c.2320T>A (p.Phe774Ile) c.2359T>A (p.Phe787Ile) c.1097T>A c.2347T>A (p.Phe783Ile) c.238T>A (p.Phe80Ile) n.335T>A n.1960T>A c.1308T>A c.381T>A | |
12 | g.6593551C>A | CA383593647 | CHD4 | c.2340G>T (p.Glu780Asp) c.2379G>T (p.Glu793Asp) c.2370G>T (p.Glu790Asp) c.2305G>T c.2319G>T (p.Glu773Asp) c.2358G>T (p.Glu786Asp) c.1096G>T c.2346G>T (p.Glu782Asp) c.237G>T (p.Glu79Asp) n.334G>T n.1959G>T c.1307G>T c.380G>T | |
12 | g.6593551C>G | CA383593648 | CHD4 | c.2340G>C (p.Glu780Asp) c.2379G>C (p.Glu793Asp) c.2370G>C (p.Glu790Asp) c.2305G>C c.2319G>C (p.Glu773Asp) c.2358G>C (p.Glu786Asp) c.1096G>C c.2346G>C (p.Glu782Asp) c.237G>C (p.Glu79Asp) n.334G>C n.1959G>C c.1307G>C c.380G>C | |
12 | g.6593551C>T | CA478132981 | CHD4 | c.2340G>A (p.Glu780=) c.2379G>A (p.Glu793=) c.2370G>A (p.Glu790=) c.2305G>A c.2319G>A (p.Glu773=) c.2358G>A (p.Glu786=) c.1096G>A c.2346G>A (p.Glu782=) c.237G>A (p.Glu79=) n.334G>A n.1959G>A c.1307G>A c.380G>A | gnomAD v4 |
12 | g.6593552T>A | CA383593652 | CHD4 | c.2339A>T (p.Glu780Val) c.2378A>T (p.Glu793Val) c.2369A>T (p.Glu790Val) c.2304A>T c.2318A>T (p.Glu773Val) c.2357A>T (p.Glu786Val) c.1095A>T c.2345A>T (p.Glu782Val) c.236A>T (p.Glu79Val) n.333A>T n.1958A>T c.1306A>T c.379A>T | |
12 | g.6593552T>C | CA383593655 | CHD4 | c.2339A>G (p.Glu780Gly) c.2378A>G (p.Glu793Gly) c.2369A>G (p.Glu790Gly) c.2304A>G c.2318A>G (p.Glu773Gly) c.2357A>G (p.Glu786Gly) c.1095A>G c.2345A>G (p.Glu782Gly) c.236A>G (p.Glu79Gly) n.333A>G n.1958A>G c.1306A>G c.379A>G | |
12 | g.6593552T>G | CA383593657 | CHD4 | c.2339A>C (p.Glu780Ala) c.2378A>C (p.Glu793Ala) c.2369A>C (p.Glu790Ala) c.2304A>C c.2318A>C (p.Glu773Ala) c.2357A>C (p.Glu786Ala) c.1095A>C c.2345A>C (p.Glu782Ala) c.236A>C (p.Glu79Ala) n.333A>C n.1958A>C c.1306A>C c.379A>C | |
12 | g.6593553C>A | CA383593662 | CHD4 | c.2338G>T (p.Glu780Ter) c.2377G>T (p.Glu793Ter) c.2368G>T (p.Glu790Ter) c.2303G>T c.2317G>T (p.Glu773Ter) c.2356G>T (p.Glu786Ter) c.1094G>T c.2344G>T (p.Glu782Ter) c.235G>T (p.Glu79Ter) n.332G>T n.1957G>T c.1305G>T c.378G>T | |
12 | g.6593553C>G | CA383593665 | CHD4 | c.2338G>C (p.Glu780Gln) c.2377G>C (p.Glu793Gln) c.2368G>C (p.Glu790Gln) c.2303G>C c.2317G>C (p.Glu773Gln) c.2356G>C (p.Glu786Gln) c.1094G>C c.2344G>C (p.Glu782Gln) c.235G>C (p.Glu79Gln) n.332G>C n.1957G>C c.1305G>C c.378G>C | |
12 | g.6593553C>T | CA383593668 | CHD4 | c.2338G>A (p.Glu780Lys) c.2377G>A (p.Glu793Lys) c.2368G>A (p.Glu790Lys) c.2303G>A c.2317G>A (p.Glu773Lys) c.2356G>A (p.Glu786Lys) c.1094G>A c.2344G>A (p.Glu782Lys) c.235G>A (p.Glu79Lys) n.332G>A n.1957G>A c.1305G>A c.378G>A | |
12 | g.6593554C>A | CA478132982 | CHD4 | c.2337G>T (p.Arg779=) c.2376G>T (p.Arg792=) c.2367G>T (p.Arg789=) c.2302G>T c.2316G>T (p.Arg772=) c.2355G>T (p.Arg785=) c.1093G>T c.2343G>T (p.Arg781=) c.234G>T (p.Arg78=) n.331G>T n.1956G>T c.1304G>T c.377G>T | |
12 | g.6593554C= | CA2014149610 | CHD4 | c.2337G= (p.Arg779=) c.2376G= (p.Arg792=) c.2367G= (p.Arg789=) c.2302G= c.2316G= (p.Arg772=) c.2355G= (p.Arg785=) c.1093G= c.2343G= (p.Arg781=) c.234G= (p.Arg78=) n.331G= n.1956G= c.1304G= c.377G= | |
12 | g.6593554C>G | CA6411973 | CHD4 | c.2337G>C (p.Arg779=) c.2376G>C (p.Arg792=) c.2367G>C (p.Arg789=) c.2302G>C c.2316G>C (p.Arg772=) c.2355G>C (p.Arg785=) c.1093G>C c.2343G>C (p.Arg781=) c.234G>C (p.Arg78=) n.331G>C n.1956G>C c.1304G>C c.377G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6593554C>T | CA478132984 | CHD4 | c.2337G>A (p.Arg779=) c.2376G>A (p.Arg792=) c.2367G>A (p.Arg789=) c.2302G>A c.2316G>A (p.Arg772=) c.2355G>A (p.Arg785=) c.1093G>A c.2343G>A (p.Arg781=) c.234G>A (p.Arg78=) n.331G>A n.1956G>A c.1304G>A c.377G>A | gnomAD v4 |
12 | g.6593555C>A | CA383593676 | CHD4 | c.2336G>T (p.Arg779Leu) c.2375G>T (p.Arg792Leu) c.2366G>T (p.Arg789Leu) c.2301G>T c.2315G>T (p.Arg772Leu) c.2354G>T (p.Arg785Leu) c.1092G>T c.2342G>T (p.Arg781Leu) c.233G>T (p.Arg78Leu) n.330G>T n.1955G>T c.1303G>T c.376G>T | |
12 | g.6593555C>G | CA383593677 | CHD4 | c.2336G>C (p.Arg779Pro) c.2375G>C (p.Arg792Pro) c.2366G>C (p.Arg789Pro) c.2301G>C c.2315G>C (p.Arg772Pro) c.2354G>C (p.Arg785Pro) c.1092G>C c.2342G>C (p.Arg781Pro) c.233G>C (p.Arg78Pro) n.330G>C n.1955G>C c.1303G>C c.376G>C | |
12 | g.6593555C>T | CA383593678 | CHD4 | c.2336G>A (p.Arg779Gln) c.2375G>A (p.Arg792Gln) c.2366G>A (p.Arg789Gln) c.2301G>A c.2315G>A (p.Arg772Gln) c.2354G>A (p.Arg785Gln) c.1092G>A c.2342G>A (p.Arg781Gln) c.233G>A (p.Arg78Gln) n.330G>A n.1955G>A c.1303G>A c.376G>A | COSMIC COSMIC COSMIC |
12 | g.6593556G>A | CA383593679 | CHD4 | c.2335C>T (p.Arg779Trp) c.2374C>T (p.Arg792Trp) c.2365C>T (p.Arg789Trp) c.2300C>T c.2314C>T (p.Arg772Trp) c.2353C>T (p.Arg785Trp) c.1091C>T c.2341C>T (p.Arg781Trp) c.232C>T (p.Arg78Trp) n.329C>T n.1954C>T c.1302C>T c.375C>T | COSMIC COSMIC COSMIC |
12 | g.6593556G>C | CA383593680 | CHD4 | c.2335C>G (p.Arg779Gly) c.2374C>G (p.Arg792Gly) c.2365C>G (p.Arg789Gly) c.2300C>G c.2314C>G (p.Arg772Gly) c.2353C>G (p.Arg785Gly) c.1091C>G c.2341C>G (p.Arg781Gly) c.232C>G (p.Arg78Gly) n.329C>G n.1954C>G c.1302C>G c.375C>G | |
12 | g.6593556G>T | CA478132985 | CHD4 | c.2335C>A (p.Arg779=) c.2374C>A (p.Arg792=) c.2365C>A (p.Arg789=) c.2300C>A c.2314C>A (p.Arg772=) c.2353C>A (p.Arg785=) c.1091C>A c.2341C>A (p.Arg781=) c.232C>A (p.Arg78=) n.329C>A n.1954C>A c.1302C>A c.375C>A | |
12 | g.6593557C>A | CA383593682 | CHD4 | c.2334G>T (p.Glu778Asp) c.2373G>T (p.Glu791Asp) c.2364G>T (p.Glu788Asp) c.2299G>T c.2313G>T (p.Glu771Asp) c.2352G>T (p.Glu784Asp) c.1090G>T c.2340G>T (p.Glu780Asp) c.231G>T (p.Glu77Asp) n.328G>T n.1953G>T c.1301G>T c.374G>T | |
12 | g.6593557C>G | CA383593683 | CHD4 | c.2334G>C (p.Glu778Asp) c.2373G>C (p.Glu791Asp) c.2364G>C (p.Glu788Asp) c.2299G>C c.2313G>C (p.Glu771Asp) c.2352G>C (p.Glu784Asp) c.1090G>C c.2340G>C (p.Glu780Asp) c.231G>C (p.Glu77Asp) n.328G>C n.1953G>C c.1301G>C c.374G>C | |
12 | g.6593557C>T | CA478132986 | CHD4 | c.2334G>A (p.Glu778=) c.2373G>A (p.Glu791=) c.2364G>A (p.Glu788=) c.2299G>A c.2313G>A (p.Glu771=) c.2352G>A (p.Glu784=) c.1090G>A c.2340G>A (p.Glu780=) c.231G>A (p.Glu77=) n.328G>A n.1953G>A c.1301G>A c.374G>A | gnomAD v4 COSMIC COSMIC |
12 | g.6593558T>A | CA383593687 | CHD4 | c.2333A>T (p.Glu778Val) c.2372A>T (p.Glu791Val) c.2363A>T (p.Glu788Val) c.2298A>T c.2312A>T (p.Glu771Val) c.2351A>T (p.Glu784Val) c.1089A>T c.2339A>T (p.Glu780Val) c.230A>T (p.Glu77Val) n.327A>T n.1952A>T c.1300A>T c.373A>T | |
12 | g.6593558T>C | CA383593690 | CHD4 | c.2333A>G (p.Glu778Gly) c.2372A>G (p.Glu791Gly) c.2363A>G (p.Glu788Gly) c.2298A>G c.2312A>G (p.Glu771Gly) c.2351A>G (p.Glu784Gly) c.1089A>G c.2339A>G (p.Glu780Gly) c.230A>G (p.Glu77Gly) n.327A>G n.1952A>G c.1300A>G c.373A>G | |
12 | g.6593558T>G | CA383593693 | CHD4 | c.2333A>C (p.Glu778Ala) c.2372A>C (p.Glu791Ala) c.2363A>C (p.Glu788Ala) c.2298A>C c.2312A>C (p.Glu771Ala) c.2351A>C (p.Glu784Ala) c.1089A>C c.2339A>C (p.Glu780Ala) c.230A>C (p.Glu77Ala) n.327A>C n.1952A>C c.1300A>C c.373A>C | |
12 | g.6593559C>A | CA383593696 | CHD4 | c.2332G>T (p.Glu778Ter) c.2371G>T (p.Glu791Ter) c.2362G>T (p.Glu788Ter) c.2297G>T c.2311G>T (p.Glu771Ter) c.2350G>T (p.Glu784Ter) c.1088G>T c.2338G>T (p.Glu780Ter) c.229G>T (p.Glu77Ter) n.326G>T n.1951G>T c.1299G>T c.372G>T | |
12 | g.6593559C>G | CA383593698 | CHD4 | c.2332G>C (p.Glu778Gln) c.2371G>C (p.Glu791Gln) c.2362G>C (p.Glu788Gln) c.2297G>C c.2311G>C (p.Glu771Gln) c.2350G>C (p.Glu784Gln) c.1088G>C c.2338G>C (p.Glu780Gln) c.229G>C (p.Glu77Gln) n.326G>C n.1951G>C c.1299G>C c.372G>C | |
12 | g.6593559C>T | CA383593700 | CHD4 | c.2332G>A (p.Glu778Lys) c.2371G>A (p.Glu791Lys) c.2362G>A (p.Glu788Lys) c.2297G>A c.2311G>A (p.Glu771Lys) c.2350G>A (p.Glu784Lys) c.1088G>A c.2338G>A (p.Glu780Lys) c.229G>A (p.Glu77Lys) n.326G>A n.1951G>A c.1299G>A c.372G>A | |
12 | g.6593560C>A | CA383593703 | CHD4 | c.2331G>T (p.Trp777Cys) c.2370G>T (p.Trp790Cys) c.2361G>T (p.Trp787Cys) c.2296G>T c.2310G>T (p.Trp770Cys) c.2349G>T (p.Trp783Cys) c.1087G>T c.2337G>T (p.Trp779Cys) c.228G>T (p.Trp76Cys) n.325G>T n.1950G>T c.1298G>T c.371G>T | |
12 | g.6593560C>G | CA383593705 | CHD4 | c.2331G>C (p.Trp777Cys) c.2370G>C (p.Trp790Cys) c.2361G>C (p.Trp787Cys) c.2296G>C c.2310G>C (p.Trp770Cys) c.2349G>C (p.Trp783Cys) c.1087G>C c.2337G>C (p.Trp779Cys) c.228G>C (p.Trp76Cys) n.325G>C n.1950G>C c.1298G>C c.371G>C | |
12 | g.6593560C>T | CA383593709 | CHD4 | c.2331G>A (p.Trp777Ter) c.2370G>A (p.Trp790Ter) c.2361G>A (p.Trp787Ter) c.2296G>A c.2310G>A (p.Trp770Ter) c.2349G>A (p.Trp783Ter) c.1087G>A c.2337G>A (p.Trp779Ter) c.228G>A (p.Trp76Ter) n.325G>A n.1950G>A c.1298G>A c.371G>A | |
12 | g.6593561C>A | CA383593712 | CHD4 | c.2330G>T (p.Trp777Leu) c.2369G>T (p.Trp790Leu) c.2360G>T (p.Trp787Leu) c.2295G>T c.2309G>T (p.Trp770Leu) c.2348G>T (p.Trp783Leu) c.1086G>T c.2336G>T (p.Trp779Leu) c.227G>T (p.Trp76Leu) n.324G>T n.1949G>T c.1297G>T c.370G>T | |
12 | g.6593561C>G | CA383593713 | CHD4 | c.2330G>C (p.Trp777Ser) c.2369G>C (p.Trp790Ser) c.2360G>C (p.Trp787Ser) c.2295G>C c.2309G>C (p.Trp770Ser) c.2348G>C (p.Trp783Ser) c.1086G>C c.2336G>C (p.Trp779Ser) c.227G>C (p.Trp76Ser) n.324G>C n.1949G>C c.1297G>C c.370G>C | |
12 | g.6593561C>T | CA383593714 | CHD4 | c.2330G>A (p.Trp777Ter) c.2369G>A (p.Trp790Ter) c.2360G>A (p.Trp787Ter) c.2295G>A c.2309G>A (p.Trp770Ter) c.2348G>A (p.Trp783Ter) c.1086G>A c.2336G>A (p.Trp779Ter) c.227G>A (p.Trp76Ter) n.324G>A n.1949G>A c.1297G>A c.370G>A | |
12 | g.6593562A>C | CA383593720 | CHD4 | c.2329T>G (p.Trp777Gly) c.2368T>G (p.Trp790Gly) c.2359T>G (p.Trp787Gly) c.2294T>G c.2308T>G (p.Trp770Gly) c.2347T>G (p.Trp783Gly) c.1085T>G c.2335T>G (p.Trp779Gly) c.226T>G (p.Trp76Gly) n.323T>G n.1948T>G c.1296T>G c.369T>G | |
12 | g.6593562A>G | CA383593723 | CHD4 | c.2329T>C (p.Trp777Arg) c.2368T>C (p.Trp790Arg) c.2359T>C (p.Trp787Arg) c.2294T>C c.2308T>C (p.Trp770Arg) c.2347T>C (p.Trp783Arg) c.1085T>C c.2335T>C (p.Trp779Arg) c.226T>C (p.Trp76Arg) n.323T>C n.1948T>C c.1296T>C c.369T>C | |
12 | g.6593562A>T | CA383593717 | CHD4 | c.2329T>A (p.Trp777Arg) c.2368T>A (p.Trp790Arg) c.2359T>A (p.Trp787Arg) c.2294T>A c.2308T>A (p.Trp770Arg) c.2347T>A (p.Trp783Arg) c.1085T>A c.2335T>A (p.Trp779Arg) c.226T>A (p.Trp76Arg) n.323T>A n.1948T>A c.1296T>A c.369T>A |