Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6593093T>ACA383591472CHD4c.2611A>T (p.Lys871Ter)
c.2650A>T (p.Lys884Ter)
c.2641A>T (p.Lys881Ter)
c.2576A>T
c.2590A>T (p.Lys864Ter)
c.2629A>T (p.Lys877Ter)
c.1367A>T
c.2617A>T (p.Lys873Ter)
c.508A>T (p.Lys170Ter)
n.605A>T
n.2230A>T
c.1578A>T
c.651A>T
12g.6593093T>CCA383591491CHD4c.2611A>G (p.Lys871Glu)
c.2650A>G (p.Lys884Glu)
c.2641A>G (p.Lys881Glu)
c.2576A>G
c.2590A>G (p.Lys864Glu)
c.2629A>G (p.Lys877Glu)
c.1367A>G
c.2617A>G (p.Lys873Glu)
c.508A>G (p.Lys170Glu)
n.605A>G
n.2230A>G
c.1578A>G
c.651A>G
12g.6593093T>GCA383591487CHD4c.2611A>C (p.Lys871Gln)
c.2650A>C (p.Lys884Gln)
c.2641A>C (p.Lys881Gln)
c.2576A>C
c.2590A>C (p.Lys864Gln)
c.2629A>C (p.Lys877Gln)
c.1367A>C
c.2617A>C (p.Lys873Gln)
c.508A>C (p.Lys170Gln)
n.605A>C
n.2230A>C
c.1578A>C
c.651A>C
12g.6593094A>CCA478131940CHD4c.2610T>G (p.Ser870=)
c.2649T>G (p.Ser883=)
c.2640T>G (p.Ser880=)
c.2575T>G
c.2589T>G (p.Ser863=)
c.2628T>G (p.Ser876=)
c.1366T>G
c.2616T>G (p.Ser872=)
c.507T>G (p.Ser169=)
n.604T>G
n.2229T>G
c.1577T>G
c.650T>G
12g.6593094A>GCA478131942CHD4c.2610T>C (p.Ser870=)
c.2649T>C (p.Ser883=)
c.2640T>C (p.Ser880=)
c.2575T>C
c.2589T>C (p.Ser863=)
c.2628T>C (p.Ser876=)
c.1366T>C
c.2616T>C (p.Ser872=)
c.507T>C (p.Ser169=)
n.604T>C
n.2229T>C
c.1577T>C
c.650T>C
12g.6593094A>TCA478131941CHD4c.2610T>A (p.Ser870=)
c.2649T>A (p.Ser883=)
c.2640T>A (p.Ser880=)
c.2575T>A
c.2589T>A (p.Ser863=)
c.2628T>A (p.Ser876=)
c.1366T>A
c.2616T>A (p.Ser872=)
c.507T>A (p.Ser169=)
n.604T>A
n.2229T>A
c.1577T>A
c.650T>A
12g.6593095G>ACA383591496CHD4c.2609C>T (p.Ser870Phe)
c.2648C>T (p.Ser883Phe)
c.2639C>T (p.Ser880Phe)
c.2574C>T
c.2588C>T (p.Ser863Phe)
c.2627C>T (p.Ser876Phe)
c.1365C>T
c.2615C>T (p.Ser872Phe)
c.506C>T (p.Ser169Phe)
n.603C>T
n.2228C>T
c.1576C>T
c.649C>T
 ClinVar dbSNP
12g.6593095G>CCA383591501CHD4c.2609C>G (p.Ser870Cys)
c.2648C>G (p.Ser883Cys)
c.2639C>G (p.Ser880Cys)
c.2574C>G
c.2588C>G (p.Ser863Cys)
c.2627C>G (p.Ser876Cys)
c.1365C>G
c.2615C>G (p.Ser872Cys)
c.506C>G (p.Ser169Cys)
n.603C>G
n.2228C>G
c.1576C>G
c.649C>G
12g.6593095G>TCA383591502CHD4c.2609C>A (p.Ser870Tyr)
c.2648C>A (p.Ser883Tyr)
c.2639C>A (p.Ser880Tyr)
c.2574C>A
c.2588C>A (p.Ser863Tyr)
c.2627C>A (p.Ser876Tyr)
c.1365C>A
c.2615C>A (p.Ser872Tyr)
c.506C>A (p.Ser169Tyr)
n.603C>A
n.2228C>A
c.1576C>A
c.649C>A
12g.6593096A>CCA383591504CHD4c.2608T>G (p.Ser870Ala)
c.2647T>G (p.Ser883Ala)
c.2638T>G (p.Ser880Ala)
c.2573T>G
c.2587T>G (p.Ser863Ala)
c.2626T>G (p.Ser876Ala)
c.1364T>G
c.2614T>G (p.Ser872Ala)
c.505T>G (p.Ser169Ala)
n.602T>G
n.2227T>G
c.1575T>G
c.648T>G
12g.6593096A>GCA383591506CHD4c.2608T>C (p.Ser870Pro)
c.2647T>C (p.Ser883Pro)
c.2638T>C (p.Ser880Pro)
c.2573T>C
c.2587T>C (p.Ser863Pro)
c.2626T>C (p.Ser876Pro)
c.1364T>C
c.2614T>C (p.Ser872Pro)
c.505T>C (p.Ser169Pro)
n.602T>C
n.2227T>C
c.1575T>C
c.648T>C
12g.6593096A>TCA383591509CHD4c.2608T>A (p.Ser870Thr)
c.2647T>A (p.Ser883Thr)
c.2638T>A (p.Ser880Thr)
c.2573T>A
c.2587T>A (p.Ser863Thr)
c.2626T>A (p.Ser876Thr)
c.1364T>A
c.2614T>A (p.Ser872Thr)
c.505T>A (p.Ser169Thr)
n.602T>A
n.2227T>A
c.1575T>A
c.648T>A
12g.6593097C>ACA6411933CHD4c.2607G>T (p.Gln869His)
c.2646G>T (p.Gln882His)
c.2637G>T (p.Gln879His)
c.2572G>T
c.2586G>T (p.Gln862His)
c.2625G>T (p.Gln875His)
c.1363G>T
c.2613G>T (p.Gln871His)
c.504G>T (p.Gln168His)
n.601G>T
n.2226G>T
c.1574G>T
c.647G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593097C=CA2014149168CHD4c.2607G= (p.Gln869=)
c.2646G= (p.Gln882=)
c.2637G= (p.Gln879=)
c.2572G=
c.2586G= (p.Gln862=)
c.2625G= (p.Gln875=)
c.1363G=
c.2613G= (p.Gln871=)
c.504G= (p.Gln168=)
n.601G=
n.2226G=
c.1574G=
c.647G=
12g.6593097C>GCA383591511CHD4c.2607G>C (p.Gln869His)
c.2646G>C (p.Gln882His)
c.2637G>C (p.Gln879His)
c.2572G>C
c.2586G>C (p.Gln862His)
c.2625G>C (p.Gln875His)
c.1363G>C
c.2613G>C (p.Gln871His)
c.504G>C (p.Gln168His)
n.601G>C
n.2226G>C
c.1574G>C
c.647G>C
 dbSNP gnomAD v3 gnomAD v4
12g.6593097C>TCA478131943CHD4c.2607G>A (p.Gln869=)
c.2646G>A (p.Gln882=)
c.2637G>A (p.Gln879=)
c.2572G>A
c.2586G>A (p.Gln862=)
c.2625G>A (p.Gln875=)
c.1363G>A
c.2613G>A (p.Gln871=)
c.504G>A (p.Gln168=)
n.601G>A
n.2226G>A
c.1574G>A
c.647G>A
12g.6593098T>ACA383591514CHD4c.2606A>T (p.Gln869Leu)
c.2645A>T (p.Gln882Leu)
c.2636A>T (p.Gln879Leu)
c.2571A>T
c.2585A>T (p.Gln862Leu)
c.2624A>T (p.Gln875Leu)
c.1362A>T
c.2612A>T (p.Gln871Leu)
c.503A>T (p.Gln168Leu)
n.600A>T
n.2225A>T
c.1573A>T
c.646A>T
12g.6593098T>CCA383591528CHD4c.2606A>G (p.Gln869Arg)
c.2645A>G (p.Gln882Arg)
c.2636A>G (p.Gln879Arg)
c.2571A>G
c.2585A>G (p.Gln862Arg)
c.2624A>G (p.Gln875Arg)
c.1362A>G
c.2612A>G (p.Gln871Arg)
c.503A>G (p.Gln168Arg)
n.600A>G
n.2225A>G
c.1573A>G
c.646A>G
12g.6593098T>GCA383591530CHD4c.2606A>C (p.Gln869Pro)
c.2645A>C (p.Gln882Pro)
c.2636A>C (p.Gln879Pro)
c.2571A>C
c.2585A>C (p.Gln862Pro)
c.2624A>C (p.Gln875Pro)
c.1362A>C
c.2612A>C (p.Gln871Pro)
c.503A>C (p.Gln168Pro)
n.600A>C
n.2225A>C
c.1573A>C
c.646A>C
12g.6593099G>ACA383591535CHD4c.2605C>T (p.Gln869Ter)
c.2644C>T (p.Gln882Ter)
c.2635C>T (p.Gln879Ter)
c.2570C>T
c.2584C>T (p.Gln862Ter)
c.2623C>T (p.Gln875Ter)
c.1361C>T
c.2611C>T (p.Gln871Ter)
c.502C>T (p.Gln168Ter)
n.599C>T
n.2224C>T
c.1572C>T
c.645C>T
 COSMIC COSMIC COSMIC
12g.6593099G>CCA383591543CHD4c.2605C>G (p.Gln869Glu)
c.2644C>G (p.Gln882Glu)
c.2635C>G (p.Gln879Glu)
c.2570C>G
c.2584C>G (p.Gln862Glu)
c.2623C>G (p.Gln875Glu)
c.1361C>G
c.2611C>G (p.Gln871Glu)
c.502C>G (p.Gln168Glu)
n.599C>G
n.2224C>G
c.1572C>G
c.645C>G
12g.6593099G>TCA383591539CHD4c.2605C>A (p.Gln869Lys)
c.2644C>A (p.Gln882Lys)
c.2635C>A (p.Gln879Lys)
c.2570C>A
c.2584C>A (p.Gln862Lys)
c.2623C>A (p.Gln875Lys)
c.1361C>A
c.2611C>A (p.Gln871Lys)
c.502C>A (p.Gln168Lys)
n.599C>A
n.2224C>A
c.1572C>A
c.645C>A
12g.6593100A>CCA383591546CHD4c.2604T>G (p.Asn868Lys)
c.2643T>G (p.Asn881Lys)
c.2634T>G (p.Asn878Lys)
c.2569T>G
c.2583T>G (p.Asn861Lys)
c.2622T>G (p.Asn874Lys)
c.1360T>G
c.2610T>G (p.Asn870Lys)
c.501T>G (p.Asn167Lys)
n.598T>G
n.2223T>G
c.1571T>G
c.644T>G
12g.6593100A>GCA478131944CHD4c.2604T>C (p.Asn868=)
c.2643T>C (p.Asn881=)
c.2634T>C (p.Asn878=)
c.2569T>C
c.2583T>C (p.Asn861=)
c.2622T>C (p.Asn874=)
c.1360T>C
c.2610T>C (p.Asn870=)
c.501T>C (p.Asn167=)
n.598T>C
n.2223T>C
c.1571T>C
c.644T>C
 gnomAD v4
12g.6593100A>TCA383591549CHD4c.2604T>A (p.Asn868Lys)
c.2643T>A (p.Asn881Lys)
c.2634T>A (p.Asn878Lys)
c.2569T>A
c.2583T>A (p.Asn861Lys)
c.2622T>A (p.Asn874Lys)
c.1360T>A
c.2610T>A (p.Asn870Lys)
c.501T>A (p.Asn167Lys)
n.598T>A
n.2223T>A
c.1571T>A
c.644T>A
12g.6593101T>ACA383591553CHD4c.2603A>T (p.Asn868Ile)
c.2642A>T (p.Asn881Ile)
c.2633A>T (p.Asn878Ile)
c.2568A>T
c.2582A>T (p.Asn861Ile)
c.2621A>T (p.Asn874Ile)
c.1359A>T
c.2609A>T (p.Asn870Ile)
c.500A>T (p.Asn167Ile)
n.597A>T
n.2222A>T
c.1570A>T
c.643A>T
12g.6593101T>CCA383591555CHD4c.2603A>G (p.Asn868Ser)
c.2642A>G (p.Asn881Ser)
c.2633A>G (p.Asn878Ser)
c.2568A>G
c.2582A>G (p.Asn861Ser)
c.2621A>G (p.Asn874Ser)
c.1359A>G
c.2609A>G (p.Asn870Ser)
c.500A>G (p.Asn167Ser)
n.597A>G
n.2222A>G
c.1570A>G
c.643A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593101T>GCA383591557CHD4c.2603A>C (p.Asn868Thr)
c.2642A>C (p.Asn881Thr)
c.2633A>C (p.Asn878Thr)
c.2568A>C
c.2582A>C (p.Asn861Thr)
c.2621A>C (p.Asn874Thr)
c.1359A>C
c.2609A>C (p.Asn870Thr)
c.500A>C (p.Asn167Thr)
n.597A>C
n.2222A>C
c.1570A>C
c.643A>C
12g.6593101T=CA2014149171CHD4c.2603A= (p.Asn868=)
c.2642A= (p.Asn881=)
c.2633A= (p.Asn878=)
c.2568A=
c.2582A= (p.Asn861=)
c.2621A= (p.Asn874=)
c.1359A=
c.2609A= (p.Asn870=)
c.500A= (p.Asn167=)
n.597A=
n.2222A=
c.1570A=
c.643A=
12g.6593102T>ACA383591558CHD4c.2602A>T (p.Asn868Tyr)
c.2641A>T (p.Asn881Tyr)
c.2632A>T (p.Asn878Tyr)
c.2567A>T
c.2581A>T (p.Asn861Tyr)
c.2620A>T (p.Asn874Tyr)
c.1358A>T
c.2608A>T (p.Asn870Tyr)
c.499A>T (p.Asn167Tyr)
n.596A>T
n.2221A>T
c.1569A>T
c.642A>T
12g.6593102T>CCA383591559CHD4c.2602A>G (p.Asn868Asp)
c.2641A>G (p.Asn881Asp)
c.2632A>G (p.Asn878Asp)
c.2567A>G
c.2581A>G (p.Asn861Asp)
c.2620A>G (p.Asn874Asp)
c.1358A>G
c.2608A>G (p.Asn870Asp)
c.499A>G (p.Asn167Asp)
n.596A>G
n.2221A>G
c.1569A>G
c.642A>G
12g.6593102T>GCA383591561CHD4c.2602A>C (p.Asn868His)
c.2641A>C (p.Asn881His)
c.2632A>C (p.Asn878His)
c.2567A>C
c.2581A>C (p.Asn861His)
c.2620A>C (p.Asn874His)
c.1358A>C
c.2608A>C (p.Asn870His)
c.499A>C (p.Asn167His)
n.596A>C
n.2221A>C
c.1569A>C
c.642A>C
12g.6593103G>ACA478131945CHD4c.2601C>T (p.Asn867=)
c.2640C>T (p.Asn880=)
c.2631C>T (p.Asn877=)
c.2566C>T
c.2580C>T (p.Asn860=)
c.2619C>T (p.Asn873=)
c.1357C>T
c.2607C>T (p.Asn869=)
c.498C>T (p.Asn166=)
n.595C>T
n.2220C>T
c.1568C>T
c.641C>T
 dbSNP
12g.6593103G>CCA383591565CHD4c.2601C>G (p.Asn867Lys)
c.2640C>G (p.Asn880Lys)
c.2631C>G (p.Asn877Lys)
c.2566C>G
c.2580C>G (p.Asn860Lys)
c.2619C>G (p.Asn873Lys)
c.1357C>G
c.2607C>G (p.Asn869Lys)
c.498C>G (p.Asn166Lys)
n.595C>G
n.2220C>G
c.1568C>G
c.641C>G
12g.6593103G=CA2014149174CHD4c.2601C= (p.Asn867=)
c.2640C= (p.Asn880=)
c.2631C= (p.Asn877=)
c.2566C=
c.2580C= (p.Asn860=)
c.2619C= (p.Asn873=)
c.1357C=
c.2607C= (p.Asn869=)
c.498C= (p.Asn166=)
n.595C=
n.2220C=
c.1568C=
c.641C=
12g.6593103G>TCA383591567CHD4c.2601C>A (p.Asn867Lys)
c.2640C>A (p.Asn880Lys)
c.2631C>A (p.Asn877Lys)
c.2566C>A
c.2580C>A (p.Asn860Lys)
c.2619C>A (p.Asn873Lys)
c.1357C>A
c.2607C>A (p.Asn869Lys)
c.498C>A (p.Asn166Lys)
n.595C>A
n.2220C>A
c.1568C>A
c.641C>A
12g.6593104T>ACA383591570CHD4c.2600A>T (p.Asn867Ile)
c.2639A>T (p.Asn880Ile)
c.2630A>T (p.Asn877Ile)
c.2565A>T
c.2579A>T (p.Asn860Ile)
c.2618A>T (p.Asn873Ile)
c.1356A>T
c.2606A>T (p.Asn869Ile)
c.497A>T (p.Asn166Ile)
n.594A>T
n.2219A>T
c.1567A>T
c.640A>T
12g.6593104T>CCA383591573CHD4c.2600A>G (p.Asn867Ser)
c.2639A>G (p.Asn880Ser)
c.2630A>G (p.Asn877Ser)
c.2565A>G
c.2579A>G (p.Asn860Ser)
c.2618A>G (p.Asn873Ser)
c.1356A>G
c.2606A>G (p.Asn869Ser)
c.497A>G (p.Asn166Ser)
n.594A>G
n.2219A>G
c.1567A>G
c.640A>G
 gnomAD v4
12g.6593104T>GCA383591581CHD4c.2600A>C (p.Asn867Thr)
c.2639A>C (p.Asn880Thr)
c.2630A>C (p.Asn877Thr)
c.2565A>C
c.2579A>C (p.Asn860Thr)
c.2618A>C (p.Asn873Thr)
c.1356A>C
c.2606A>C (p.Asn869Thr)
c.497A>C (p.Asn166Thr)
n.594A>C
n.2219A>C
c.1567A>C
c.640A>C
12g.6593105T>ACA383591590CHD4c.2599A>T (p.Asn867Tyr)
c.2638A>T (p.Asn880Tyr)
c.2629A>T (p.Asn877Tyr)
c.2564A>T
c.2578A>T (p.Asn860Tyr)
c.2617A>T (p.Asn873Tyr)
c.1355A>T
c.2605A>T (p.Asn869Tyr)
c.496A>T (p.Asn166Tyr)
n.593A>T
n.2218A>T
c.1566A>T
c.639A>T
12g.6593105T>CCA383591587CHD4c.2599A>G (p.Asn867Asp)
c.2638A>G (p.Asn880Asp)
c.2629A>G (p.Asn877Asp)
c.2564A>G
c.2578A>G (p.Asn860Asp)
c.2617A>G (p.Asn873Asp)
c.1355A>G
c.2605A>G (p.Asn869Asp)
c.496A>G (p.Asn166Asp)
n.593A>G
n.2218A>G
c.1566A>G
c.639A>G
12g.6593105T>GCA383591589CHD4c.2599A>C (p.Asn867His)
c.2638A>C (p.Asn880His)
c.2629A>C (p.Asn877His)
c.2564A>C
c.2578A>C (p.Asn860His)
c.2617A>C (p.Asn873His)
c.1355A>C
c.2605A>C (p.Asn869His)
c.496A>C (p.Asn166His)
n.593A>C
n.2218A>C
c.1566A>C
c.639A>C
12g.6593106C>ACA383591598CHD4c.2598G>T (p.Lys866Asn)
c.2637G>T (p.Lys879Asn)
c.2628G>T (p.Lys876Asn)
c.2563G>T
c.2577G>T (p.Lys859Asn)
c.2616G>T (p.Lys872Asn)
c.1354G>T
c.2604G>T (p.Lys868Asn)
c.495G>T (p.Lys165Asn)
n.592G>T
n.2217G>T
c.1565G>T
c.638G>T
12g.6593106C>GCA383591600CHD4c.2598G>C (p.Lys866Asn)
c.2637G>C (p.Lys879Asn)
c.2628G>C (p.Lys876Asn)
c.2563G>C
c.2577G>C (p.Lys859Asn)
c.2616G>C (p.Lys872Asn)
c.1354G>C
c.2604G>C (p.Lys868Asn)
c.495G>C (p.Lys165Asn)
n.592G>C
n.2217G>C
c.1565G>C
c.638G>C
12g.6593106C>TCA478131946CHD4c.2598G>A (p.Lys866=)
c.2637G>A (p.Lys879=)
c.2628G>A (p.Lys876=)
c.2563G>A
c.2577G>A (p.Lys859=)
c.2616G>A (p.Lys872=)
c.1354G>A
c.2604G>A (p.Lys868=)
c.495G>A (p.Lys165=)
n.592G>A
n.2217G>A
c.1565G>A
c.638G>A
12g.6593107T>ACA383591603CHD4c.2597A>T (p.Lys866Met)
c.2636A>T (p.Lys879Met)
c.2627A>T (p.Lys876Met)
c.2562A>T
c.2576A>T (p.Lys859Met)
c.2615A>T (p.Lys872Met)
c.1353A>T
c.2603A>T (p.Lys868Met)
c.494A>T (p.Lys165Met)
n.591A>T
n.2216A>T
c.1564A>T
c.637A>T
12g.6593107T>CCA383591607CHD4c.2597A>G (p.Lys866Arg)
c.2636A>G (p.Lys879Arg)
c.2627A>G (p.Lys876Arg)
c.2562A>G
c.2576A>G (p.Lys859Arg)
c.2615A>G (p.Lys872Arg)
c.1353A>G
c.2603A>G (p.Lys868Arg)
c.494A>G (p.Lys165Arg)
n.591A>G
n.2216A>G
c.1564A>G
c.637A>G
12g.6593107T>GCA383591614CHD4c.2597A>C (p.Lys866Thr)
c.2636A>C (p.Lys879Thr)
c.2627A>C (p.Lys876Thr)
c.2562A>C
c.2576A>C (p.Lys859Thr)
c.2615A>C (p.Lys872Thr)
c.1353A>C
c.2603A>C (p.Lys868Thr)
c.494A>C (p.Lys165Thr)
n.591A>C
n.2216A>C
c.1564A>C
c.637A>C
12g.6593108T>ACA383591621CHD4c.2596A>T (p.Lys866Ter)
c.2635A>T (p.Lys879Ter)
c.2626A>T (p.Lys876Ter)
c.2561A>T
c.2575A>T (p.Lys859Ter)
c.2614A>T (p.Lys872Ter)
c.1352A>T
c.2602A>T (p.Lys868Ter)
c.493A>T (p.Lys165Ter)
n.590A>T
n.2215A>T
c.1563A>T
c.636A>T
12g.6593108T>CCA383591624CHD4c.2596A>G (p.Lys866Glu)
c.2635A>G (p.Lys879Glu)
c.2626A>G (p.Lys876Glu)
c.2561A>G
c.2575A>G (p.Lys859Glu)
c.2614A>G (p.Lys872Glu)
c.1352A>G
c.2602A>G (p.Lys868Glu)
c.493A>G (p.Lys165Glu)
n.590A>G
n.2215A>G
c.1563A>G
c.636A>G
 dbSNP gnomAD v2
12g.6593108T>GCA383591629CHD4c.2596A>C (p.Lys866Gln)
c.2635A>C (p.Lys879Gln)
c.2626A>C (p.Lys876Gln)
c.2561A>C
c.2575A>C (p.Lys859Gln)
c.2614A>C (p.Lys872Gln)
c.1352A>C
c.2602A>C (p.Lys868Gln)
c.493A>C (p.Lys165Gln)
n.590A>C
n.2215A>C
c.1563A>C
c.636A>C
12g.6593108T=CA2014149177CHD4c.2596A= (p.Lys866=)
c.2635A= (p.Lys879=)
c.2626A= (p.Lys876=)
c.2561A=
c.2575A= (p.Lys859=)
c.2614A= (p.Lys872=)
c.1352A=
c.2602A= (p.Lys868=)
c.493A= (p.Lys165=)
n.590A=
n.2215A=
c.1563A=
c.636A=
12g.6593109C>ACA478131949CHD4c.2595G>T (p.Leu865=)
c.2634G>T (p.Leu878=)
c.2625G>T (p.Leu875=)
c.2560G>T
c.2574G>T (p.Leu858=)
c.2613G>T (p.Leu871=)
c.1351G>T
c.2601G>T (p.Leu867=)
c.492G>T (p.Leu164=)
n.589G>T
n.2214G>T
c.1562G>T
c.635G>T
12g.6593109C>GCA478131947CHD4c.2595G>C (p.Leu865=)
c.2634G>C (p.Leu878=)
c.2625G>C (p.Leu875=)
c.2560G>C
c.2574G>C (p.Leu858=)
c.2613G>C (p.Leu871=)
c.1351G>C
c.2601G>C (p.Leu867=)
c.492G>C (p.Leu164=)
n.589G>C
n.2214G>C
c.1562G>C
c.635G>C
12g.6593109C>TCA478131948CHD4c.2595G>A (p.Leu865=)
c.2634G>A (p.Leu878=)
c.2625G>A (p.Leu875=)
c.2560G>A
c.2574G>A (p.Leu858=)
c.2613G>A (p.Leu871=)
c.1351G>A
c.2601G>A (p.Leu867=)
c.492G>A (p.Leu164=)
n.589G>A
n.2214G>A
c.1562G>A
c.635G>A
12g.6593110A>CCA383591632CHD4c.2594T>G (p.Leu865Arg)
c.2633T>G (p.Leu878Arg)
c.2624T>G (p.Leu875Arg)
c.2559T>G
c.2573T>G (p.Leu858Arg)
c.2612T>G (p.Leu871Arg)
c.1350T>G
c.2600T>G (p.Leu867Arg)
c.491T>G (p.Leu164Arg)
n.588T>G
n.2213T>G
c.1561T>G
c.634T>G
 COSMIC COSMIC COSMIC
12g.6593110A>GCA383591635CHD4c.2594T>C (p.Leu865Pro)
c.2633T>C (p.Leu878Pro)
c.2624T>C (p.Leu875Pro)
c.2559T>C
c.2573T>C (p.Leu858Pro)
c.2612T>C (p.Leu871Pro)
c.1350T>C
c.2600T>C (p.Leu867Pro)
c.491T>C (p.Leu164Pro)
n.588T>C
n.2213T>C
c.1561T>C
c.634T>C
12g.6593110A>TCA383591638CHD4c.2594T>A (p.Leu865Gln)
c.2633T>A (p.Leu878Gln)
c.2624T>A (p.Leu875Gln)
c.2559T>A
c.2573T>A (p.Leu858Gln)
c.2612T>A (p.Leu871Gln)
c.1350T>A
c.2600T>A (p.Leu867Gln)
c.491T>A (p.Leu164Gln)
n.588T>A
n.2213T>A
c.1561T>A
c.634T>A
12g.6593111G>ACA6411934CHD4c.2593C>T (p.Leu865=)
c.2632C>T (p.Leu878=)
c.2623C>T (p.Leu875=)
c.2558C>T
c.2572C>T (p.Leu858=)
c.2611C>T (p.Leu871=)
c.1349C>T
c.2599C>T (p.Leu867=)
c.490C>T (p.Leu164=)
n.587C>T
n.2212C>T
c.1560C>T
c.633C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593111G>CCA383591650CHD4c.2593C>G (p.Leu865Val)
c.2632C>G (p.Leu878Val)
c.2623C>G (p.Leu875Val)
c.2558C>G
c.2572C>G (p.Leu858Val)
c.2611C>G (p.Leu871Val)
c.1349C>G
c.2599C>G (p.Leu867Val)
c.490C>G (p.Leu164Val)
n.587C>G
n.2212C>G
c.1560C>G
c.633C>G
12g.6593111G=CA2014149179CHD4c.2593C= (p.Leu865=)
c.2632C= (p.Leu878=)
c.2623C= (p.Leu875=)
c.2558C=
c.2572C= (p.Leu858=)
c.2611C= (p.Leu871=)
c.1349C=
c.2599C= (p.Leu867=)
c.490C= (p.Leu164=)
n.587C=
n.2212C=
c.1560C=
c.633C=
12g.6593111G>TCA383591642CHD4c.2593C>A (p.Leu865Met)
c.2632C>A (p.Leu878Met)
c.2623C>A (p.Leu875Met)
c.2558C>A
c.2572C>A (p.Leu858Met)
c.2611C>A (p.Leu871Met)
c.1349C>A
c.2599C>A (p.Leu867Met)
c.490C>A (p.Leu164Met)
n.587C>A
n.2212C>A
c.1560C>A
c.633C>A
12g.6593112C>ACA478131950CHD4c.2592G>T (p.Arg864=)
c.2631G>T (p.Arg877=)
c.2622G>T (p.Arg874=)
c.2557G>T
c.2571G>T (p.Arg857=)
c.2610G>T (p.Arg870=)
c.1348G>T
c.2598G>T (p.Arg866=)
c.489G>T (p.Arg163=)
n.586G>T
n.2211G>T
c.1559G>T
c.632G>T
12g.6593112C=CA2014149182CHD4c.2592G= (p.Arg864=)
c.2631G= (p.Arg877=)
c.2622G= (p.Arg874=)
c.2557G=
c.2571G= (p.Arg857=)
c.2610G= (p.Arg870=)
c.1348G=
c.2598G= (p.Arg866=)
c.489G= (p.Arg163=)
n.586G=
n.2211G=
c.1559G=
c.632G=
12g.6593112C>GCA478131951CHD4c.2592G>C (p.Arg864=)
c.2631G>C (p.Arg877=)
c.2622G>C (p.Arg874=)
c.2557G>C
c.2571G>C (p.Arg857=)
c.2610G>C (p.Arg870=)
c.1348G>C
c.2598G>C (p.Arg866=)
c.489G>C (p.Arg163=)
n.586G>C
n.2211G>C
c.1559G>C
c.632G>C
12g.6593112C>TCA478131952CHD4c.2592G>A (p.Arg864=)
c.2631G>A (p.Arg877=)
c.2622G>A (p.Arg874=)
c.2557G>A
c.2571G>A (p.Arg857=)
c.2610G>A (p.Arg870=)
c.1348G>A
c.2598G>A (p.Arg866=)
c.489G>A (p.Arg163=)
n.586G>A
n.2211G>A
c.1559G>A
c.632G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6593113C>ACA383591654CHD4c.2591G>T (p.Arg864Leu)
c.2630G>T (p.Arg877Leu)
c.2621G>T (p.Arg874Leu)
c.2556G>T
c.2570G>T (p.Arg857Leu)
c.2609G>T (p.Arg870Leu)
c.1347G>T
c.2597G>T (p.Arg866Leu)
c.488G>T (p.Arg163Leu)
n.585G>T
n.2210G>T
c.1558G>T
c.631G>T
12g.6593113C>GCA383591656CHD4c.2591G>C (p.Arg864Pro)
c.2630G>C (p.Arg877Pro)
c.2621G>C (p.Arg874Pro)
c.2556G>C
c.2570G>C (p.Arg857Pro)
c.2609G>C (p.Arg870Pro)
c.1347G>C
c.2597G>C (p.Arg866Pro)
c.488G>C (p.Arg163Pro)
n.585G>C
n.2210G>C
c.1558G>C
c.631G>C
12g.6593113C>TCA383591659CHD4c.2591G>A (p.Arg864Gln)
c.2630G>A (p.Arg877Gln)
c.2621G>A (p.Arg874Gln)
c.2556G>A
c.2570G>A (p.Arg857Gln)
c.2609G>A (p.Arg870Gln)
c.1347G>A
c.2597G>A (p.Arg866Gln)
c.488G>A (p.Arg163Gln)
n.585G>A
n.2210G>A
c.1558G>A
c.631G>A
 COSMIC COSMIC COSMIC
12g.6593114G>ACA383591663CHD4c.2590C>T (p.Arg864Trp)
c.2629C>T (p.Arg877Trp)
c.2620C>T (p.Arg874Trp)
c.2555C>T
c.2569C>T (p.Arg857Trp)
c.2608C>T (p.Arg870Trp)
c.1346C>T
c.2596C>T (p.Arg866Trp)
c.487C>T (p.Arg163Trp)
n.584C>T
n.2209C>T
c.1557C>T
c.630C>T
 COSMIC COSMIC COSMIC
12g.6593114G>CCA383591666CHD4c.2590C>G (p.Arg864Gly)
c.2629C>G (p.Arg877Gly)
c.2620C>G (p.Arg874Gly)
c.2555C>G
c.2569C>G (p.Arg857Gly)
c.2608C>G (p.Arg870Gly)
c.1346C>G
c.2596C>G (p.Arg866Gly)
c.487C>G (p.Arg163Gly)
n.584C>G
n.2209C>G
c.1557C>G
c.630C>G
12g.6593114G>TCA478131954CHD4c.2590C>A (p.Arg864=)
c.2629C>A (p.Arg877=)
c.2620C>A (p.Arg874=)
c.2555C>A
c.2569C>A (p.Arg857=)
c.2608C>A (p.Arg870=)
c.1346C>A
c.2596C>A (p.Arg866=)
c.487C>A (p.Arg163=)
n.584C>A
n.2209C>A
c.1557C>A
c.630C>A
12g.6593115A>CCA383591670CHD4c.2589T>G (p.His863Gln)
c.2628T>G (p.His876Gln)
c.2619T>G (p.His873Gln)
c.2554T>G
c.2568T>G (p.His856Gln)
c.2607T>G (p.His869Gln)
c.1345T>G
c.2595T>G (p.His865Gln)
c.486T>G (p.His162Gln)
n.583T>G
n.2208T>G
c.1556T>G
c.629T>G
12g.6593115A>GCA478131955CHD4c.2589T>C (p.His863=)
c.2628T>C (p.His876=)
c.2619T>C (p.His873=)
c.2554T>C
c.2568T>C (p.His856=)
c.2607T>C (p.His869=)
c.1345T>C
c.2595T>C (p.His865=)
c.486T>C (p.His162=)
n.583T>C
n.2208T>C
c.1556T>C
c.629T>C
12g.6593115A>TCA383591673CHD4c.2589T>A (p.His863Gln)
c.2628T>A (p.His876Gln)
c.2619T>A (p.His873Gln)
c.2554T>A
c.2568T>A (p.His856Gln)
c.2607T>A (p.His869Gln)
c.1345T>A
c.2595T>A (p.His865Gln)
c.486T>A (p.His162Gln)
n.583T>A
n.2208T>A
c.1556T>A
c.629T>A
12g.6593116T>ACA383591675CHD4c.2588A>T (p.His863Leu)
c.2627A>T (p.His876Leu)
c.2618A>T (p.His873Leu)
c.2553A>T
c.2567A>T (p.His856Leu)
c.2606A>T (p.His869Leu)
c.1344A>T
c.2594A>T (p.His865Leu)
c.485A>T (p.His162Leu)
n.582A>T
n.2207A>T
c.1555A>T
c.628A>T
12g.6593116T>CCA383591678CHD4c.2588A>G (p.His863Arg)
c.2627A>G (p.His876Arg)
c.2618A>G (p.His873Arg)
c.2553A>G
c.2567A>G (p.His856Arg)
c.2606A>G (p.His869Arg)
c.1344A>G
c.2594A>G (p.His865Arg)
c.485A>G (p.His162Arg)
n.582A>G
n.2207A>G
c.1555A>G
c.628A>G
 COSMIC COSMIC COSMIC
12g.6593116T>GCA383591693CHD4c.2588A>C (p.His863Pro)
c.2627A>C (p.His876Pro)
c.2618A>C (p.His873Pro)
c.2553A>C
c.2567A>C (p.His856Pro)
c.2606A>C (p.His869Pro)
c.1344A>C
c.2594A>C (p.His865Pro)
c.485A>C (p.His162Pro)
n.582A>C
n.2207A>C
c.1555A>C
c.628A>C
12g.6593117G>ACA383591694CHD4c.2587C>T (p.His863Tyr)
c.2626C>T (p.His876Tyr)
c.2617C>T (p.His873Tyr)
c.2552C>T
c.2566C>T (p.His856Tyr)
c.2605C>T (p.His869Tyr)
c.1343C>T
c.2593C>T (p.His865Tyr)
c.484C>T (p.His162Tyr)
n.581C>T
n.2206C>T
c.1554C>T
c.627C>T
12g.6593117G>CCA383591697CHD4c.2587C>G (p.His863Asp)
c.2626C>G (p.His876Asp)
c.2617C>G (p.His873Asp)
c.2552C>G
c.2566C>G (p.His856Asp)
c.2605C>G (p.His869Asp)
c.1343C>G
c.2593C>G (p.His865Asp)
c.484C>G (p.His162Asp)
n.581C>G
n.2206C>G
c.1554C>G
c.627C>G
12g.6593117G>TCA383591700CHD4c.2587C>A (p.His863Asn)
c.2626C>A (p.His876Asn)
c.2617C>A (p.His873Asn)
c.2552C>A
c.2566C>A (p.His856Asn)
c.2605C>A (p.His869Asn)
c.1343C>A
c.2593C>A (p.His865Asn)
c.484C>A (p.His162Asn)
n.581C>A
n.2206C>A
c.1554C>A
c.627C>A
12g.6593118G>ACA478131956CHD4c.2586C>T (p.Ala862=)
c.2625C>T (p.Ala875=)
c.2616C>T (p.Ala872=)
c.2551C>T
c.2565C>T (p.Ala855=)
c.2604C>T (p.Ala868=)
c.1342C>T
c.2592C>T (p.Ala864=)
c.483C>T (p.Ala161=)
n.580C>T
n.2205C>T
c.1553C>T
c.626C>T
 gnomAD v4
12g.6593118G>CCA478131957CHD4c.2586C>G (p.Ala862=)
c.2625C>G (p.Ala875=)
c.2616C>G (p.Ala872=)
c.2551C>G
c.2565C>G (p.Ala855=)
c.2604C>G (p.Ala868=)
c.1342C>G
c.2592C>G (p.Ala864=)
c.483C>G (p.Ala161=)
n.580C>G
n.2205C>G
c.1553C>G
c.626C>G
12g.6593118G>TCA478131958CHD4c.2586C>A (p.Ala862=)
c.2625C>A (p.Ala875=)
c.2616C>A (p.Ala872=)
c.2551C>A
c.2565C>A (p.Ala855=)
c.2604C>A (p.Ala868=)
c.1342C>A
c.2592C>A (p.Ala864=)
c.483C>A (p.Ala161=)
n.580C>A
n.2205C>A
c.1553C>A
c.626C>A
12g.6593119G>ACA383591708CHD4c.2585C>T (p.Ala862Val)
c.2624C>T (p.Ala875Val)
c.2615C>T (p.Ala872Val)
c.2550C>T
c.2564C>T (p.Ala855Val)
c.2603C>T (p.Ala868Val)
c.1341C>T
c.2591C>T (p.Ala864Val)
c.482C>T (p.Ala161Val)
n.579C>T
n.2204C>T
c.1552C>T
c.625C>T
12g.6593119G>CCA383591705CHD4c.2585C>G (p.Ala862Gly)
c.2624C>G (p.Ala875Gly)
c.2615C>G (p.Ala872Gly)
c.2550C>G
c.2564C>G (p.Ala855Gly)
c.2603C>G (p.Ala868Gly)
c.1341C>G
c.2591C>G (p.Ala864Gly)
c.482C>G (p.Ala161Gly)
n.579C>G
n.2204C>G
c.1552C>G
c.625C>G
12g.6593119G>TCA383591703CHD4c.2585C>A (p.Ala862Asp)
c.2624C>A (p.Ala875Asp)
c.2615C>A (p.Ala872Asp)
c.2550C>A
c.2564C>A (p.Ala855Asp)
c.2603C>A (p.Ala868Asp)
c.1341C>A
c.2591C>A (p.Ala864Asp)
c.482C>A (p.Ala161Asp)
n.579C>A
n.2204C>A
c.1552C>A
c.625C>A
12g.6593120C>ACA6411935CHD4c.2584G>T (p.Ala862Ser)
c.2623G>T (p.Ala875Ser)
c.2614G>T (p.Ala872Ser)
c.2549G>T
c.2563G>T (p.Ala855Ser)
c.2602G>T (p.Ala868Ser)
c.1340G>T
c.2590G>T (p.Ala864Ser)
c.481G>T (p.Ala161Ser)
n.578G>T
n.2203G>T
c.1551G>T
c.624G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593120C=CA2014149185CHD4c.2584G= (p.Ala862=)
c.2623G= (p.Ala875=)
c.2614G= (p.Ala872=)
c.2549G=
c.2563G= (p.Ala855=)
c.2602G= (p.Ala868=)
c.1340G=
c.2590G= (p.Ala864=)
c.481G= (p.Ala161=)
n.578G=
n.2203G=
c.1551G=
c.624G=
12g.6593120C>GCA383591715CHD4c.2584G>C (p.Ala862Pro)
c.2623G>C (p.Ala875Pro)
c.2614G>C (p.Ala872Pro)
c.2549G>C
c.2563G>C (p.Ala855Pro)
c.2602G>C (p.Ala868Pro)
c.1340G>C
c.2590G>C (p.Ala864Pro)
c.481G>C (p.Ala161Pro)
n.578G>C
n.2203G>C
c.1551G>C
c.624G>C
12g.6593120C>TCA383591718CHD4c.2584G>A (p.Ala862Thr)
c.2623G>A (p.Ala875Thr)
c.2614G>A (p.Ala872Thr)
c.2549G>A
c.2563G>A (p.Ala855Thr)
c.2602G>A (p.Ala868Thr)
c.1340G>A
c.2590G>A (p.Ala864Thr)
c.481G>A (p.Ala161Thr)
n.578G>A
n.2203G>A
c.1551G>A
c.624G>A
 dbSNP
12g.6593121T>ACA383591721CHD4c.2583A>T (p.Glu861Asp)
c.2622A>T (p.Glu874Asp)
c.2613A>T (p.Glu871Asp)
c.2548A>T
c.2562A>T (p.Glu854Asp)
c.2601A>T (p.Glu867Asp)
c.1339A>T
c.2589A>T (p.Glu863Asp)
c.480A>T (p.Glu160Asp)
n.577A>T
n.2202A>T
c.1550A>T
c.623A>T
12g.6593121T>CCA478131959CHD4c.2583A>G (p.Glu861=)
c.2622A>G (p.Glu874=)
c.2613A>G (p.Glu871=)
c.2548A>G
c.2562A>G (p.Glu854=)
c.2601A>G (p.Glu867=)
c.1339A>G
c.2589A>G (p.Glu863=)
c.480A>G (p.Glu160=)
n.577A>G
n.2202A>G
c.1550A>G
c.623A>G
12g.6593121T>GCA383591723CHD4c.2583A>C (p.Glu861Asp)
c.2622A>C (p.Glu874Asp)
c.2613A>C (p.Glu871Asp)
c.2548A>C
c.2562A>C (p.Glu854Asp)
c.2601A>C (p.Glu867Asp)
c.1339A>C
c.2589A>C (p.Glu863Asp)
c.480A>C (p.Glu160Asp)
n.577A>C
n.2202A>C
c.1550A>C
c.623A>C
12g.6593122T>ACA383591729CHD4c.2582A>T (p.Glu861Val)
c.2621A>T (p.Glu874Val)
c.2612A>T (p.Glu871Val)
c.2547A>T
c.2561A>T (p.Glu854Val)
c.2600A>T (p.Glu867Val)
c.1338A>T
c.2588A>T (p.Glu863Val)
c.479A>T (p.Glu160Val)
n.576A>T
n.2201A>T
c.1549A>T
c.622A>T
12g.6593122T>CCA383591732CHD4c.2582A>G (p.Glu861Gly)
c.2621A>G (p.Glu874Gly)
c.2612A>G (p.Glu871Gly)
c.2547A>G
c.2561A>G (p.Glu854Gly)
c.2600A>G (p.Glu867Gly)
c.1338A>G
c.2588A>G (p.Glu863Gly)
c.479A>G (p.Glu160Gly)
n.576A>G
n.2201A>G
c.1549A>G
c.622A>G
12g.6593122T>GCA383591737CHD4c.2582A>C (p.Glu861Ala)
c.2621A>C (p.Glu874Ala)
c.2612A>C (p.Glu871Ala)
c.2547A>C
c.2561A>C (p.Glu854Ala)
c.2600A>C (p.Glu867Ala)
c.1338A>C
c.2588A>C (p.Glu863Ala)
c.479A>C (p.Glu160Ala)
n.576A>C
n.2201A>C
c.1549A>C
c.622A>C
12g.6593123C>ACA383591742CHD4c.2581G>T (p.Glu861Ter)
c.2620G>T (p.Glu874Ter)
c.2611G>T (p.Glu871Ter)
c.2546G>T
c.2560G>T (p.Glu854Ter)
c.2599G>T (p.Glu867Ter)
c.1337G>T
c.2587G>T (p.Glu863Ter)
c.478G>T (p.Glu160Ter)
n.575G>T
n.2200G>T
c.1548G>T
c.621G>T
12g.6593123C>GCA383591747CHD4c.2581G>C (p.Glu861Gln)
c.2620G>C (p.Glu874Gln)
c.2611G>C (p.Glu871Gln)
c.2546G>C
c.2560G>C (p.Glu854Gln)
c.2599G>C (p.Glu867Gln)
c.1337G>C
c.2587G>C (p.Glu863Gln)
c.478G>C (p.Glu160Gln)
n.575G>C
n.2200G>C
c.1548G>C
c.621G>C
12g.6593123C>TCA383591751CHD4c.2581G>A (p.Glu861Lys)
c.2620G>A (p.Glu874Lys)
c.2611G>A (p.Glu871Lys)
c.2546G>A
c.2560G>A (p.Glu854Lys)
c.2599G>A (p.Glu867Lys)
c.1337G>A
c.2587G>A (p.Glu863Lys)
c.478G>A (p.Glu160Lys)
n.575G>A
n.2200G>A
c.1548G>A
c.621G>A
12g.6593124A>CCA383591755CHD4c.2580T>G (p.Asp860Glu)
c.2619T>G (p.Asp873Glu)
c.2610T>G (p.Asp870Glu)
c.2545T>G
c.2559T>G (p.Asp853Glu)
c.2598T>G (p.Asp866Glu)
c.1336T>G
c.2586T>G (p.Asp862Glu)
c.477T>G (p.Asp159Glu)
n.574T>G
n.2199T>G
c.1547T>G
c.620T>G
12g.6593124A>GCA478131960CHD4c.2580T>C (p.Asp860=)
c.2619T>C (p.Asp873=)
c.2610T>C (p.Asp870=)
c.2545T>C
c.2559T>C (p.Asp853=)
c.2598T>C (p.Asp866=)
c.1336T>C
c.2586T>C (p.Asp862=)
c.477T>C (p.Asp159=)
n.574T>C
n.2199T>C
c.1547T>C
c.620T>C
12g.6593124A>TCA383591756CHD4c.2580T>A (p.Asp860Glu)
c.2619T>A (p.Asp873Glu)
c.2610T>A (p.Asp870Glu)
c.2545T>A
c.2559T>A (p.Asp853Glu)
c.2598T>A (p.Asp866Glu)
c.1336T>A
c.2586T>A (p.Asp862Glu)
c.477T>A (p.Asp159Glu)
n.574T>A
n.2199T>A
c.1547T>A
c.620T>A
12g.6593125T>ACA383591759CHD4c.2579A>T (p.Asp860Val)
c.2618A>T (p.Asp873Val)
c.2609A>T (p.Asp870Val)
c.2544A>T
c.2558A>T (p.Asp853Val)
c.2597A>T (p.Asp866Val)
c.1335A>T
c.2585A>T (p.Asp862Val)
c.476A>T (p.Asp159Val)
n.573A>T
n.2198A>T
c.1546A>T
c.619A>T
12g.6593125T>CCA383591763CHD4c.2579A>G (p.Asp860Gly)
c.2618A>G (p.Asp873Gly)
c.2609A>G (p.Asp870Gly)
c.2544A>G
c.2558A>G (p.Asp853Gly)
c.2597A>G (p.Asp866Gly)
c.1335A>G
c.2585A>G (p.Asp862Gly)
c.476A>G (p.Asp159Gly)
n.573A>G
n.2198A>G
c.1546A>G
c.619A>G
 COSMIC COSMIC COSMIC
12g.6593125T>GCA383591757CHD4c.2579A>C (p.Asp860Ala)
c.2618A>C (p.Asp873Ala)
c.2609A>C (p.Asp870Ala)
c.2544A>C
c.2558A>C (p.Asp853Ala)
c.2597A>C (p.Asp866Ala)
c.1335A>C
c.2585A>C (p.Asp862Ala)
c.476A>C (p.Asp159Ala)
n.573A>C
n.2198A>C
c.1546A>C
c.619A>C
12g.6593126C>ACA383591766CHD4c.2578G>T (p.Asp860Tyr)
c.2617G>T (p.Asp873Tyr)
c.2608G>T (p.Asp870Tyr)
c.2543G>T
c.2557G>T (p.Asp853Tyr)
c.2596G>T (p.Asp866Tyr)
c.1334G>T
c.2584G>T (p.Asp862Tyr)
c.475G>T (p.Asp159Tyr)
n.572G>T
n.2197G>T
c.1545G>T
c.618G>T
12g.6593126C>GCA383591767CHD4c.2578G>C (p.Asp860His)
c.2617G>C (p.Asp873His)
c.2608G>C (p.Asp870His)
c.2543G>C
c.2557G>C (p.Asp853His)
c.2596G>C (p.Asp866His)
c.1334G>C
c.2584G>C (p.Asp862His)
c.475G>C (p.Asp159His)
n.572G>C
n.2197G>C
c.1545G>C
c.618G>C
12g.6593126C>TCA383591768CHD4c.2578G>A (p.Asp860Asn)
c.2617G>A (p.Asp873Asn)
c.2608G>A (p.Asp870Asn)
c.2543G>A
c.2557G>A (p.Asp853Asn)
c.2596G>A (p.Asp866Asn)
c.1334G>A
c.2584G>A (p.Asp862Asn)
c.475G>A (p.Asp159Asn)
n.572G>A
n.2197G>A
c.1545G>A
c.618G>A
12g.6593127C>ACA478131961CHD4c.2577G>T (p.Val859=)
c.2616G>T (p.Val872=)
c.2607G>T (p.Val869=)
c.2542G>T
c.2556G>T (p.Val852=)
c.2595G>T (p.Val865=)
c.1333G>T
c.2583G>T (p.Val861=)
c.474G>T (p.Val158=)
n.571G>T
n.2196G>T
c.1544G>T
c.617G>T
12g.6593127C=CA2014149189CHD4c.2577G= (p.Val859=)
c.2616G= (p.Val872=)
c.2607G= (p.Val869=)
c.2542G=
c.2556G= (p.Val852=)
c.2595G= (p.Val865=)
c.1333G=
c.2583G= (p.Val861=)
c.474G= (p.Val158=)
n.571G=
n.2196G=
c.1544G=
c.617G=
12g.6593127C>GCA478131962CHD4c.2577G>C (p.Val859=)
c.2616G>C (p.Val872=)
c.2607G>C (p.Val869=)
c.2542G>C
c.2556G>C (p.Val852=)
c.2595G>C (p.Val865=)
c.1333G>C
c.2583G>C (p.Val861=)
c.474G>C (p.Val158=)
n.571G>C
n.2196G>C
c.1544G>C
c.617G>C
12g.6593127C>TCA478131963CHD4c.2577G>A (p.Val859=)
c.2616G>A (p.Val872=)
c.2607G>A (p.Val869=)
c.2542G>A
c.2556G>A (p.Val852=)
c.2595G>A (p.Val865=)
c.1333G>A
c.2583G>A (p.Val861=)
c.474G>A (p.Val158=)
n.571G>A
n.2196G>A
c.1544G>A
c.617G>A
 dbSNP gnomAD v2 gnomAD v4
12g.6593128A>CCA383591769CHD4c.2576T>G (p.Val859Gly)
c.2615T>G (p.Val872Gly)
c.2606T>G (p.Val869Gly)
c.2541T>G
c.2555T>G (p.Val852Gly)
c.2594T>G (p.Val865Gly)
c.1332T>G
c.2582T>G (p.Val861Gly)
c.473T>G (p.Val158Gly)
n.570T>G
n.2195T>G
c.1543T>G
c.616T>G
12g.6593128A>GCA383591770CHD4c.2576T>C (p.Val859Ala)
c.2615T>C (p.Val872Ala)
c.2606T>C (p.Val869Ala)
c.2541T>C
c.2555T>C (p.Val852Ala)
c.2594T>C (p.Val865Ala)
c.1332T>C
c.2582T>C (p.Val861Ala)
c.473T>C (p.Val158Ala)
n.570T>C
n.2195T>C
c.1543T>C
c.616T>C
12g.6593128A>TCA383591772CHD4c.2576T>A (p.Val859Glu)
c.2615T>A (p.Val872Glu)
c.2606T>A (p.Val869Glu)
c.2541T>A
c.2555T>A (p.Val852Glu)
c.2594T>A (p.Val865Glu)
c.1332T>A
c.2582T>A (p.Val861Glu)
c.473T>A (p.Val158Glu)
n.570T>A
n.2195T>A
c.1543T>A
c.616T>A
12g.6593129C>ACA383591776CHD4c.2575G>T (p.Val859Leu)
c.2614G>T (p.Val872Leu)
c.2605G>T (p.Val869Leu)
c.2540G>T
c.2554G>T (p.Val852Leu)
c.2593G>T (p.Val865Leu)
c.1331G>T
c.2581G>T (p.Val861Leu)
c.472G>T (p.Val158Leu)
n.569G>T
n.2194G>T
c.1542G>T
c.615G>T
12g.6593129C>GCA383591773CHD4c.2575G>C (p.Val859Leu)
c.2614G>C (p.Val872Leu)
c.2605G>C (p.Val869Leu)
c.2540G>C
c.2554G>C (p.Val852Leu)
c.2593G>C (p.Val865Leu)
c.1331G>C
c.2581G>C (p.Val861Leu)
c.472G>C (p.Val158Leu)
n.569G>C
n.2194G>C
c.1542G>C
c.615G>C
12g.6593129C>TCA383591774CHD4c.2575G>A (p.Val859Met)
c.2614G>A (p.Val872Met)
c.2605G>A (p.Val869Met)
c.2540G>A
c.2554G>A (p.Val852Met)
c.2593G>A (p.Val865Met)
c.1331G>A
c.2581G>A (p.Val861Met)
c.472G>A (p.Val158Met)
n.569G>A
n.2194G>A
c.1542G>A
c.615G>A
12g.6593130G>ACA6411936CHD4c.2574C>T (p.Ile858=)
c.2613C>T (p.Ile871=)
c.2604C>T (p.Ile868=)
c.2539C>T
c.2553C>T (p.Ile851=)
c.2592C>T (p.Ile864=)
c.1330C>T
c.2580C>T (p.Ile860=)
c.471C>T (p.Ile157=)
n.568C>T
n.2193C>T
c.1541C>T
c.614C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593130G>CCA383591783CHD4c.2574C>G (p.Ile858Met)
c.2613C>G (p.Ile871Met)
c.2604C>G (p.Ile868Met)
c.2539C>G
c.2553C>G (p.Ile851Met)
c.2592C>G (p.Ile864Met)
c.1330C>G
c.2580C>G (p.Ile860Met)
c.471C>G (p.Ile157Met)
n.568C>G
n.2193C>G
c.1541C>G
c.614C>G
12g.6593130G=CA2014149192CHD4c.2574C= (p.Ile858=)
c.2613C= (p.Ile871=)
c.2604C= (p.Ile868=)
c.2539C=
c.2553C= (p.Ile851=)
c.2592C= (p.Ile864=)
c.1330C=
c.2580C= (p.Ile860=)
c.471C= (p.Ile157=)
n.568C=
n.2193C=
c.1541C=
c.614C=
12g.6593130G>TCA478131964CHD4c.2574C>A (p.Ile858=)
c.2613C>A (p.Ile871=)
c.2604C>A (p.Ile868=)
c.2539C>A
c.2553C>A (p.Ile851=)
c.2592C>A (p.Ile864=)
c.1330C>A
c.2580C>A (p.Ile860=)
c.471C>A (p.Ile157=)
n.568C>A
n.2193C>A
c.1541C>A
c.614C>A
12g.6593131A=CA2014149196CHD4c.2573T= (p.Ile858=)
c.2612T= (p.Ile871=)
c.2603T= (p.Ile868=)
c.2538T=
c.2552T= (p.Ile851=)
c.2591T= (p.Ile864=)
c.1329T=
c.2579T= (p.Ile860=)
c.470T= (p.Ile157=)
n.567T=
n.2192T=
c.1540T=
c.613T=
12g.6593131A>CCA383591785CHD4c.2573T>G (p.Ile858Ser)
c.2612T>G (p.Ile871Ser)
c.2603T>G (p.Ile868Ser)
c.2538T>G
c.2552T>G (p.Ile851Ser)
c.2591T>G (p.Ile864Ser)
c.1329T>G
c.2579T>G (p.Ile860Ser)
c.470T>G (p.Ile157Ser)
n.567T>G
n.2192T>G
c.1540T>G
c.613T>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593131A>GCA383591787CHD4c.2573T>C (p.Ile858Thr)
c.2612T>C (p.Ile871Thr)
c.2603T>C (p.Ile868Thr)
c.2538T>C
c.2552T>C (p.Ile851Thr)
c.2591T>C (p.Ile864Thr)
c.1329T>C
c.2579T>C (p.Ile860Thr)
c.470T>C (p.Ile157Thr)
n.567T>C
n.2192T>C
c.1540T>C
c.613T>C
 dbSNP
12g.6593131A>TCA383591789CHD4c.2573T>A (p.Ile858Asn)
c.2612T>A (p.Ile871Asn)
c.2603T>A (p.Ile868Asn)
c.2538T>A
c.2552T>A (p.Ile851Asn)
c.2591T>A (p.Ile864Asn)
c.1329T>A
c.2579T>A (p.Ile860Asn)
c.470T>A (p.Ile157Asn)
n.567T>A
n.2192T>A
c.1540T>A
c.613T>A
12g.6593132T>ACA383591799CHD4c.2572A>T (p.Ile858Phe)
c.2611A>T (p.Ile871Phe)
c.2602A>T (p.Ile868Phe)
c.2537A>T
c.2551A>T (p.Ile851Phe)
c.2590A>T (p.Ile864Phe)
c.1328A>T
c.2578A>T (p.Ile860Phe)
c.469A>T (p.Ile157Phe)
n.566A>T
n.2191A>T
c.1539A>T
c.612A>T
12g.6593132T>CCA383591791CHD4c.2572A>G (p.Ile858Val)
c.2611A>G (p.Ile871Val)
c.2602A>G (p.Ile868Val)
c.2537A>G
c.2551A>G (p.Ile851Val)
c.2590A>G (p.Ile864Val)
c.1328A>G
c.2578A>G (p.Ile860Val)
c.469A>G (p.Ile157Val)
n.566A>G
n.2191A>G
c.1539A>G
c.612A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593132T>GCA383591794CHD4c.2572A>C (p.Ile858Leu)
c.2611A>C (p.Ile871Leu)
c.2602A>C (p.Ile868Leu)
c.2537A>C
c.2551A>C (p.Ile851Leu)
c.2590A>C (p.Ile864Leu)
c.1328A>C
c.2578A>C (p.Ile860Leu)
c.469A>C (p.Ile157Leu)
n.566A>C
n.2191A>C
c.1539A>C
c.612A>C
12g.6593132T=CA2014149198CHD4c.2572A= (p.Ile858=)
c.2611A= (p.Ile871=)
c.2602A= (p.Ile868=)
c.2537A=
c.2551A= (p.Ile851=)
c.2590A= (p.Ile864=)
c.1328A=
c.2578A= (p.Ile860=)
c.469A= (p.Ile157=)
n.566A=
n.2191A=
c.1539A=
c.612A=
12g.6593133G>ACA6411937CHD4c.2571C>T (p.Leu857=)
c.2610C>T (p.Leu870=)
c.2601C>T (p.Leu867=)
c.2536C>T
c.2550C>T (p.Leu850=)
c.2589C>T (p.Leu863=)
c.1327C>T
c.2577C>T (p.Leu859=)
c.468C>T (p.Leu156=)
n.565C>T
n.2190C>T
c.1538C>T
c.611C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593133G>CCA478131967CHD4c.2571C>G (p.Leu857=)
c.2610C>G (p.Leu870=)
c.2601C>G (p.Leu867=)
c.2536C>G
c.2550C>G (p.Leu850=)
c.2589C>G (p.Leu863=)
c.1327C>G
c.2577C>G (p.Leu859=)
c.468C>G (p.Leu156=)
n.565C>G
n.2190C>G
c.1538C>G
c.611C>G
12g.6593133G=CA2014149201CHD4c.2571C= (p.Leu857=)
c.2610C= (p.Leu870=)
c.2601C= (p.Leu867=)
c.2536C=
c.2550C= (p.Leu850=)
c.2589C= (p.Leu863=)
c.1327C=
c.2577C= (p.Leu859=)
c.468C= (p.Leu156=)
n.565C=
n.2190C=
c.1538C=
c.611C=
12g.6593133G>TCA478131968CHD4c.2571C>A (p.Leu857=)
c.2610C>A (p.Leu870=)
c.2601C>A (p.Leu867=)
c.2536C>A
c.2550C>A (p.Leu850=)
c.2589C>A (p.Leu863=)
c.1327C>A
c.2577C>A (p.Leu859=)
c.468C>A (p.Leu156=)
n.565C>A
n.2190C>A
c.1538C>A
c.611C>A
 gnomAD v4
12g.6593134A=CA2014149204CHD4c.2570T= (p.Leu857=)
c.2609T= (p.Leu870=)
c.2600T= (p.Leu867=)
c.2535T=
c.2549T= (p.Leu850=)
c.2588T= (p.Leu863=)
c.1326T=
c.2576T= (p.Leu859=)
c.467T= (p.Leu156=)
n.564T=
n.2189T=
c.1537T=
c.610T=
12g.6593134A>CCA383591805CHD4c.2570T>G (p.Leu857Arg)
c.2609T>G (p.Leu870Arg)
c.2600T>G (p.Leu867Arg)
c.2535T>G
c.2549T>G (p.Leu850Arg)
c.2588T>G (p.Leu863Arg)
c.1326T>G
c.2576T>G (p.Leu859Arg)
c.467T>G (p.Leu156Arg)
n.564T>G
n.2189T>G
c.1537T>G
c.610T>G
12g.6593134A>GCA383591809CHD4c.2570T>C (p.Leu857Pro)
c.2609T>C (p.Leu870Pro)
c.2600T>C (p.Leu867Pro)
c.2535T>C
c.2549T>C (p.Leu850Pro)
c.2588T>C (p.Leu863Pro)
c.1326T>C
c.2576T>C (p.Leu859Pro)
c.467T>C (p.Leu156Pro)
n.564T>C
n.2189T>C
c.1537T>C
c.610T>C
12g.6593134A>TCA383591814CHD4c.2570T>A (p.Leu857His)
c.2609T>A (p.Leu870His)
c.2600T>A (p.Leu867His)
c.2535T>A
c.2549T>A (p.Leu850His)
c.2588T>A (p.Leu863His)
c.1326T>A
c.2576T>A (p.Leu859His)
c.467T>A (p.Leu156His)
n.564T>A
n.2189T>A
c.1537T>A
c.610T>A
 dbSNP
12g.6593135G>ACA383591818CHD4c.2569C>T (p.Leu857Phe)
c.2608C>T (p.Leu870Phe)
c.2599C>T (p.Leu867Phe)
c.2534C>T
c.2548C>T (p.Leu850Phe)
c.2587C>T (p.Leu863Phe)
c.1325C>T
c.2575C>T (p.Leu859Phe)
c.466C>T (p.Leu156Phe)
n.563C>T
n.2188C>T
c.1536C>T
c.609C>T
12g.6593135G>CCA383591822CHD4c.2569C>G (p.Leu857Val)
c.2608C>G (p.Leu870Val)
c.2599C>G (p.Leu867Val)
c.2534C>G
c.2548C>G (p.Leu850Val)
c.2587C>G (p.Leu863Val)
c.1325C>G
c.2575C>G (p.Leu859Val)
c.466C>G (p.Leu156Val)
n.563C>G
n.2188C>G
c.1536C>G
c.609C>G
12g.6593135G>TCA383591824CHD4c.2569C>A (p.Leu857Ile)
c.2608C>A (p.Leu870Ile)
c.2599C>A (p.Leu867Ile)
c.2534C>A
c.2548C>A (p.Leu850Ile)
c.2587C>A (p.Leu863Ile)
c.1325C>A
c.2575C>A (p.Leu859Ile)
c.466C>A (p.Leu156Ile)
n.563C>A
n.2188C>A
c.1536C>A
c.609C>A
12g.6593136G>ACA6411938CHD4c.2568C>T (p.Cys856=)
c.2607C>T (p.Cys869=)
c.2598C>T (p.Cys866=)
c.2533C>T
c.2547C>T (p.Cys849=)
c.2586C>T (p.Cys862=)
c.1324C>T
c.2574C>T (p.Cys858=)
c.465C>T (p.Cys155=)
n.562C>T
n.2187C>T
c.1535C>T
c.608C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593136G>CCA383591827CHD4c.2568C>G (p.Cys856Trp)
c.2607C>G (p.Cys869Trp)
c.2598C>G (p.Cys866Trp)
c.2533C>G
c.2547C>G (p.Cys849Trp)
c.2586C>G (p.Cys862Trp)
c.1324C>G
c.2574C>G (p.Cys858Trp)
c.465C>G (p.Cys155Trp)
n.562C>G
n.2187C>G
c.1535C>G
c.608C>G
12g.6593136G=CA2014149206CHD4c.2568C= (p.Cys856=)
c.2607C= (p.Cys869=)
c.2598C= (p.Cys866=)
c.2533C=
c.2547C= (p.Cys849=)
c.2586C= (p.Cys862=)
c.1324C=
c.2574C= (p.Cys858=)
c.465C= (p.Cys155=)
n.562C=
n.2187C=
c.1535C=
c.608C=
12g.6593136G>TCA383591828CHD4c.2568C>A (p.Cys856Ter)
c.2607C>A (p.Cys869Ter)
c.2598C>A (p.Cys866Ter)
c.2533C>A
c.2547C>A (p.Cys849Ter)
c.2586C>A (p.Cys862Ter)
c.1324C>A
c.2574C>A (p.Cys858Ter)
c.465C>A (p.Cys155Ter)
n.562C>A
n.2187C>A
c.1535C>A
c.608C>A
12g.6593137C>ACA383591830CHD4c.2567G>T (p.Cys856Phe)
c.2606G>T (p.Cys869Phe)
c.2597G>T (p.Cys866Phe)
c.2532G>T
c.2546G>T (p.Cys849Phe)
c.2585G>T (p.Cys862Phe)
c.1323G>T
c.2573G>T (p.Cys858Phe)
c.464G>T (p.Cys155Phe)
n.561G>T
n.2186G>T
c.1534G>T
c.607G>T
12g.6593137C>GCA383591833CHD4c.2567G>C (p.Cys856Ser)
c.2606G>C (p.Cys869Ser)
c.2597G>C (p.Cys866Ser)
c.2532G>C
c.2546G>C (p.Cys849Ser)
c.2585G>C (p.Cys862Ser)
c.1323G>C
c.2573G>C (p.Cys858Ser)
c.464G>C (p.Cys155Ser)
n.561G>C
n.2186G>C
c.1534G>C
c.607G>C
12g.6593137C>TCA383591837CHD4c.2567G>A (p.Cys856Tyr)
c.2606G>A (p.Cys869Tyr)
c.2597G>A (p.Cys866Tyr)
c.2532G>A
c.2546G>A (p.Cys849Tyr)
c.2585G>A (p.Cys862Tyr)
c.1323G>A
c.2573G>A (p.Cys858Tyr)
c.464G>A (p.Cys155Tyr)
n.561G>A
n.2186G>A
c.1534G>A
c.607G>A
 gnomAD v4
12g.6593138A=CA2014149209CHD4c.2566T= (p.Cys856=)
c.2605T= (p.Cys869=)
c.2596T= (p.Cys866=)
c.2531T=
c.2545T= (p.Cys849=)
c.2584T= (p.Cys862=)
c.1322T=
c.2572T= (p.Cys858=)
c.463T= (p.Cys155=)
n.560T=
n.2185T=
c.1533T=
c.606T=
12g.6593138A>CCA232392911CHD4c.2566T>G (p.Cys856Gly)
c.2605T>G (p.Cys869Gly)
c.2596T>G (p.Cys866Gly)
c.2531T>G
c.2545T>G (p.Cys849Gly)
c.2584T>G (p.Cys862Gly)
c.1322T>G
c.2572T>G (p.Cys858Gly)
c.463T>G (p.Cys155Gly)
n.560T>G
n.2185T>G
c.1533T>G
c.606T>G
 dbSNP
12g.6593138A>GCA383591841CHD4c.2566T>C (p.Cys856Arg)
c.2605T>C (p.Cys869Arg)
c.2596T>C (p.Cys866Arg)
c.2531T>C
c.2545T>C (p.Cys849Arg)
c.2584T>C (p.Cys862Arg)
c.1322T>C
c.2572T>C (p.Cys858Arg)
c.463T>C (p.Cys155Arg)
n.560T>C
n.2185T>C
c.1533T>C
c.606T>C
12g.6593138A>TCA383591847CHD4c.2566T>A (p.Cys856Ser)
c.2605T>A (p.Cys869Ser)
c.2596T>A (p.Cys866Ser)
c.2531T>A
c.2545T>A (p.Cys849Ser)
c.2584T>A (p.Cys862Ser)
c.1322T>A
c.2572T>A (p.Cys858Ser)
c.463T>A (p.Cys155Ser)
n.560T>A
n.2185T>A
c.1533T>A
c.606T>A
12g.6593139G>ACA478131974CHD4c.2565C>T (p.Ala855=)
c.2604C>T (p.Ala868=)
c.2595C>T (p.Ala865=)
c.2530C>T
c.2544C>T (p.Ala848=)
c.2583C>T (p.Ala861=)
c.1321C>T
c.2571C>T (p.Ala857=)
c.462C>T (p.Ala154=)
n.559C>T
n.2184C>T
c.1532C>T
c.605C>T
12g.6593139G>CCA478131972CHD4c.2565C>G (p.Ala855=)
c.2604C>G (p.Ala868=)
c.2595C>G (p.Ala865=)
c.2530C>G
c.2544C>G (p.Ala848=)
c.2583C>G (p.Ala861=)
c.1321C>G
c.2571C>G (p.Ala857=)
c.462C>G (p.Ala154=)
n.559C>G
n.2184C>G
c.1532C>G
c.605C>G
12g.6593139G>TCA478131970CHD4c.2565C>A (p.Ala855=)
c.2604C>A (p.Ala868=)
c.2595C>A (p.Ala865=)
c.2530C>A
c.2544C>A (p.Ala848=)
c.2583C>A (p.Ala861=)
c.1321C>A
c.2571C>A (p.Ala857=)
c.462C>A (p.Ala154=)
n.559C>A
n.2184C>A
c.1532C>A
c.605C>A
12g.6593140G>ACA383591850CHD4c.2564C>T (p.Ala855Val)
c.2603C>T (p.Ala868Val)
c.2594C>T (p.Ala865Val)
c.2529C>T
c.2543C>T (p.Ala848Val)
c.2582C>T (p.Ala861Val)
c.1320C>T
c.2570C>T (p.Ala857Val)
c.461C>T (p.Ala154Val)
n.558C>T
n.2183C>T
c.1531C>T
c.604C>T
 gnomAD v4
12g.6593140G>CCA383591852CHD4c.2564C>G (p.Ala855Gly)
c.2603C>G (p.Ala868Gly)
c.2594C>G (p.Ala865Gly)
c.2529C>G
c.2543C>G (p.Ala848Gly)
c.2582C>G (p.Ala861Gly)
c.1320C>G
c.2570C>G (p.Ala857Gly)
c.461C>G (p.Ala154Gly)
n.558C>G
n.2183C>G
c.1531C>G
c.604C>G
12g.6593140G>TCA383591851CHD4c.2564C>A (p.Ala855Asp)
c.2603C>A (p.Ala868Asp)
c.2594C>A (p.Ala865Asp)
c.2529C>A
c.2543C>A (p.Ala848Asp)
c.2582C>A (p.Ala861Asp)
c.1320C>A
c.2570C>A (p.Ala857Asp)
c.461C>A (p.Ala154Asp)
n.558C>A
n.2183C>A
c.1531C>A
c.604C>A
12g.6593141C>ACA383591854CHD4c.2563G>T (p.Ala855Ser)
c.2602G>T (p.Ala868Ser)
c.2593G>T (p.Ala865Ser)
c.2528G>T
c.2542G>T (p.Ala848Ser)
c.2581G>T (p.Ala861Ser)
c.1319G>T
c.2569G>T (p.Ala857Ser)
c.460G>T (p.Ala154Ser)
n.557G>T
n.2182G>T
c.1530G>T
c.603G>T
12g.6593141C>GCA383591855CHD4c.2563G>C (p.Ala855Pro)
c.2602G>C (p.Ala868Pro)
c.2593G>C (p.Ala865Pro)
c.2528G>C
c.2542G>C (p.Ala848Pro)
c.2581G>C (p.Ala861Pro)
c.1319G>C
c.2569G>C (p.Ala857Pro)
c.460G>C (p.Ala154Pro)
n.557G>C
n.2182G>C
c.1530G>C
c.603G>C
12g.6593141C>TCA383591857CHD4c.2563G>A (p.Ala855Thr)
c.2602G>A (p.Ala868Thr)
c.2593G>A (p.Ala865Thr)
c.2528G>A
c.2542G>A (p.Ala848Thr)
c.2581G>A (p.Ala861Thr)
c.1319G>A
c.2569G>A (p.Ala857Thr)
c.460G>A (p.Ala154Thr)
n.557G>A
n.2182G>A
c.1530G>A
c.603G>A
 gnomAD v4
12g.6593142C>ACA383591858CHD4c.2562G>T (p.Trp854Cys)
c.2601G>T (p.Trp867Cys)
c.2592G>T (p.Trp864Cys)
c.2527G>T
c.2541G>T (p.Trp847Cys)
c.2580G>T (p.Trp860Cys)
c.1318G>T
c.2568G>T (p.Trp856Cys)
c.459G>T (p.Trp153Cys)
n.556G>T
n.2181G>T
c.1529G>T
c.602G>T
 COSMIC COSMIC COSMIC
12g.6593142C=CA2014149211CHD4c.2562G= (p.Trp854=)
c.2601G= (p.Trp867=)
c.2592G= (p.Trp864=)
c.2527G=
c.2541G= (p.Trp847=)
c.2580G= (p.Trp860=)
c.1318G=
c.2568G= (p.Trp856=)
c.459G= (p.Trp153=)
n.556G=
n.2181G=
c.1529G=
c.602G=
12g.6593142C>GCA383591859CHD4c.2562G>C (p.Trp854Cys)
c.2601G>C (p.Trp867Cys)
c.2592G>C (p.Trp864Cys)
c.2527G>C
c.2541G>C (p.Trp847Cys)
c.2580G>C (p.Trp860Cys)
c.1318G>C
c.2568G>C (p.Trp856Cys)
c.459G>C (p.Trp153Cys)
n.556G>C
n.2181G>C
c.1529G>C
c.602G>C
12g.6593142C>TCA383591861CHD4c.2562G>A (p.Trp854Ter)
c.2601G>A (p.Trp867Ter)
c.2592G>A (p.Trp864Ter)
c.2527G>A
c.2541G>A (p.Trp847Ter)
c.2580G>A (p.Trp860Ter)
c.1318G>A
c.2568G>A (p.Trp856Ter)
c.459G>A (p.Trp153Ter)
n.556G>A
n.2181G>A
c.1529G>A
c.602G>A
 dbSNP gnomAD v2
12g.6593143C>ACA383591862CHD4c.2561G>T (p.Trp854Leu)
c.2600G>T (p.Trp867Leu)
c.2591G>T (p.Trp864Leu)
c.2526G>T
c.2540G>T (p.Trp847Leu)
c.2579G>T (p.Trp860Leu)
c.1317G>T
c.2567G>T (p.Trp856Leu)
c.458G>T (p.Trp153Leu)
n.555G>T
n.2180G>T
c.1528G>T
c.601G>T
12g.6593143C>GCA383591863CHD4c.2561G>C (p.Trp854Ser)
c.2600G>C (p.Trp867Ser)
c.2591G>C (p.Trp864Ser)
c.2526G>C
c.2540G>C (p.Trp847Ser)
c.2579G>C (p.Trp860Ser)
c.1317G>C
c.2567G>C (p.Trp856Ser)
c.458G>C (p.Trp153Ser)
n.555G>C
n.2180G>C
c.1528G>C
c.601G>C
12g.6593143C>TCA383591865CHD4c.2561G>A (p.Trp854Ter)
c.2600G>A (p.Trp867Ter)
c.2591G>A (p.Trp864Ter)
c.2526G>A
c.2540G>A (p.Trp847Ter)
c.2579G>A (p.Trp860Ter)
c.1317G>A
c.2567G>A (p.Trp856Ter)
c.458G>A (p.Trp153Ter)
n.555G>A
n.2180G>A
c.1528G>A
c.601G>A
12g.6593144A>CCA383591866CHD4c.2560T>G (p.Trp854Gly)
c.2599T>G (p.Trp867Gly)
c.2590T>G (p.Trp864Gly)
c.2525T>G
c.2539T>G (p.Trp847Gly)
c.2578T>G (p.Trp860Gly)
c.1316T>G
c.2566T>G (p.Trp856Gly)
c.457T>G (p.Trp153Gly)
n.554T>G
n.2179T>G
c.1527T>G
c.600T>G
12g.6593144A>GCA383591868CHD4c.2560T>C (p.Trp854Arg)
c.2599T>C (p.Trp867Arg)
c.2590T>C (p.Trp864Arg)
c.2525T>C
c.2539T>C (p.Trp847Arg)
c.2578T>C (p.Trp860Arg)
c.1316T>C
c.2566T>C (p.Trp856Arg)
c.457T>C (p.Trp153Arg)
n.554T>C
n.2179T>C
c.1527T>C
c.600T>C
12g.6593144A>TCA383591871CHD4c.2560T>A (p.Trp854Arg)
c.2599T>A (p.Trp867Arg)
c.2590T>A (p.Trp864Arg)
c.2525T>A
c.2539T>A (p.Trp847Arg)
c.2578T>A (p.Trp860Arg)
c.1316T>A
c.2566T>A (p.Trp856Arg)
c.457T>A (p.Trp153Arg)
n.554T>A
n.2179T>A
c.1527T>A
c.600T>A
12g.6593145A>CCA383591874CHD4c.2559T>G (p.Asp853Glu)
c.2598T>G (p.Asp866Glu)
c.2589T>G (p.Asp863Glu)
c.2524T>G
c.2538T>G (p.Asp846Glu)
c.2577T>G (p.Asp859Glu)
c.1315T>G
c.2565T>G (p.Asp855Glu)
c.456T>G (p.Asp152Glu)
n.553T>G
n.2178T>G
c.1526T>G
c.599T>G
12g.6593145A>GCA478131975CHD4c.2559T>C (p.Asp853=)
c.2598T>C (p.Asp866=)
c.2589T>C (p.Asp863=)
c.2524T>C
c.2538T>C (p.Asp846=)
c.2577T>C (p.Asp859=)
c.1315T>C
c.2565T>C (p.Asp855=)
c.456T>C (p.Asp152=)
n.553T>C
n.2178T>C
c.1526T>C
c.599T>C
12g.6593145A>TCA383591881CHD4c.2559T>A (p.Asp853Glu)
c.2598T>A (p.Asp866Glu)
c.2589T>A (p.Asp863Glu)
c.2524T>A
c.2538T>A (p.Asp846Glu)
c.2577T>A (p.Asp859Glu)
c.1315T>A
c.2565T>A (p.Asp855Glu)
c.456T>A (p.Asp152Glu)
n.553T>A
n.2178T>A
c.1526T>A
c.599T>A
12g.6593146T>ACA383591886CHD4c.2558A>T (p.Asp853Val)
c.2597A>T (p.Asp866Val)
c.2588A>T (p.Asp863Val)
c.2523A>T
c.2537A>T (p.Asp846Val)
c.2576A>T (p.Asp859Val)
c.1314A>T
c.2564A>T (p.Asp855Val)
c.455A>T (p.Asp152Val)
n.552A>T
n.2177A>T
c.1525A>T
c.598A>T
12g.6593146T>CCA383591891CHD4c.2558A>G (p.Asp853Gly)
c.2597A>G (p.Asp866Gly)
c.2588A>G (p.Asp863Gly)
c.2523A>G
c.2537A>G (p.Asp846Gly)
c.2576A>G (p.Asp859Gly)
c.1314A>G
c.2564A>G (p.Asp855Gly)
c.455A>G (p.Asp152Gly)
n.552A>G
n.2177A>G
c.1525A>G
c.598A>G
12g.6593146T>GCA383591893CHD4c.2558A>C (p.Asp853Ala)
c.2597A>C (p.Asp866Ala)
c.2588A>C (p.Asp863Ala)
c.2523A>C
c.2537A>C (p.Asp846Ala)
c.2576A>C (p.Asp859Ala)
c.1314A>C
c.2564A>C (p.Asp855Ala)
c.455A>C (p.Asp152Ala)
n.552A>C
n.2177A>C
c.1525A>C
c.598A>C
12g.6593147C>ACA383591901CHD4c.2557G>T (p.Asp853Tyr)
c.2596G>T (p.Asp866Tyr)
c.2587G>T (p.Asp863Tyr)
c.2522G>T
c.2536G>T (p.Asp846Tyr)
c.2575G>T (p.Asp859Tyr)
c.1313G>T
c.2563G>T (p.Asp855Tyr)
c.454G>T (p.Asp152Tyr)
n.551G>T
n.2176G>T
c.1524G>T
c.597G>T
12g.6593147C>GCA383591904CHD4c.2557G>C (p.Asp853His)
c.2596G>C (p.Asp866His)
c.2587G>C (p.Asp863His)
c.2522G>C
c.2536G>C (p.Asp846His)
c.2575G>C (p.Asp859His)
c.1313G>C
c.2563G>C (p.Asp855His)
c.454G>C (p.Asp152His)
n.551G>C
n.2176G>C
c.1524G>C
c.597G>C
12g.6593147C>TCA383591909CHD4c.2557G>A (p.Asp853Asn)
c.2596G>A (p.Asp866Asn)
c.2587G>A (p.Asp863Asn)
c.2522G>A
c.2536G>A (p.Asp846Asn)
c.2575G>A (p.Asp859Asn)
c.1313G>A
c.2563G>A (p.Asp855Asn)
c.454G>A (p.Asp152Asn)
n.551G>A
n.2176G>A
c.1524G>A
c.597G>A
 gnomAD v4
12g.6593148A>CCA383591912CHD4c.2556T>G (p.Ile852Met)
c.2595T>G (p.Ile865Met)
c.2586T>G (p.Ile862Met)
c.2521T>G
c.2535T>G (p.Ile845Met)
c.2574T>G (p.Ile858Met)
c.1312T>G
c.2562T>G (p.Ile854Met)
c.453T>G (p.Ile151Met)
n.550T>G
n.2175T>G
c.1523T>G
c.596T>G
12g.6593148A>GCA478131977CHD4c.2556T>C (p.Ile852=)
c.2595T>C (p.Ile865=)
c.2586T>C (p.Ile862=)
c.2521T>C
c.2535T>C (p.Ile845=)
c.2574T>C (p.Ile858=)
c.1312T>C
c.2562T>C (p.Ile854=)
c.453T>C (p.Ile151=)
n.550T>C
n.2175T>C
c.1523T>C
c.596T>C
 gnomAD v4
12g.6593148A>TCA478131979CHD4c.2556T>A (p.Ile852=)
c.2595T>A (p.Ile865=)
c.2586T>A (p.Ile862=)
c.2521T>A
c.2535T>A (p.Ile845=)
c.2574T>A (p.Ile858=)
c.1312T>A
c.2562T>A (p.Ile854=)
c.453T>A (p.Ile151=)
n.550T>A
n.2175T>A
c.1523T>A
c.596T>A
12g.6593149A=CA2014149214CHD4c.2555T= (p.Ile852=)
c.2594T= (p.Ile865=)
c.2585T= (p.Ile862=)
c.2520T=
c.2534T= (p.Ile845=)
c.2573T= (p.Ile858=)
c.1311T=
c.2561T= (p.Ile854=)
c.452T= (p.Ile151=)
n.549T=
n.2174T=
c.1522T=
c.595T=
12g.6593149A>CCA383591917CHD4c.2555T>G (p.Ile852Ser)
c.2594T>G (p.Ile865Ser)
c.2585T>G (p.Ile862Ser)
c.2520T>G
c.2534T>G (p.Ile845Ser)
c.2573T>G (p.Ile858Ser)
c.1311T>G
c.2561T>G (p.Ile854Ser)
c.452T>G (p.Ile151Ser)
n.549T>G
n.2174T>G
c.1522T>G
c.595T>G
12g.6593149A>GCA383591919CHD4c.2555T>C (p.Ile852Thr)
c.2594T>C (p.Ile865Thr)
c.2585T>C (p.Ile862Thr)
c.2520T>C
c.2534T>C (p.Ile845Thr)
c.2573T>C (p.Ile858Thr)
c.1311T>C
c.2561T>C (p.Ile854Thr)
c.452T>C (p.Ile151Thr)
n.549T>C
n.2174T>C
c.1522T>C
c.595T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6593149A>TCA383591922CHD4c.2555T>A (p.Ile852Asn)
c.2594T>A (p.Ile865Asn)
c.2585T>A (p.Ile862Asn)
c.2520T>A
c.2534T>A (p.Ile845Asn)
c.2573T>A (p.Ile858Asn)
c.1311T>A
c.2561T>A (p.Ile854Asn)
c.452T>A (p.Ile151Asn)
n.549T>A
n.2174T>A
c.1522T>A
c.595T>A
12g.6593150T>ACA383591927CHD4c.2554A>T (p.Ile852Phe)
c.2593A>T (p.Ile865Phe)
c.2584A>T (p.Ile862Phe)
c.2519A>T
c.2533A>T (p.Ile845Phe)
c.2572A>T (p.Ile858Phe)
c.1310A>T
c.2560A>T (p.Ile854Phe)
c.451A>T (p.Ile151Phe)
n.548A>T
n.2173A>T
c.1521A>T
c.594A>T
12g.6593150T>CCA6411939CHD4c.2554A>G (p.Ile852Val)
c.2593A>G (p.Ile865Val)
c.2584A>G (p.Ile862Val)
c.2519A>G
c.2533A>G (p.Ile845Val)
c.2572A>G (p.Ile858Val)
c.1310A>G
c.2560A>G (p.Ile854Val)
c.451A>G (p.Ile151Val)
n.548A>G
n.2173A>G
c.1521A>G
c.594A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593150T>GCA383591934CHD4c.2554A>C (p.Ile852Leu)
c.2593A>C (p.Ile865Leu)
c.2584A>C (p.Ile862Leu)
c.2519A>C
c.2533A>C (p.Ile845Leu)
c.2572A>C (p.Ile858Leu)
c.1310A>C
c.2560A>C (p.Ile854Leu)
c.451A>C (p.Ile151Leu)
n.548A>C
n.2173A>C
c.1521A>C
c.594A>C
 dbSNP
12g.6593150T=CA2014149216CHD4c.2554A= (p.Ile852=)
c.2593A= (p.Ile865=)
c.2584A= (p.Ile862=)
c.2519A=
c.2533A= (p.Ile845=)
c.2572A= (p.Ile858=)
c.1310A=
c.2560A= (p.Ile854=)
c.451A= (p.Ile151=)
n.548A=
n.2173A=
c.1521A=
c.594A=
12g.6593151A>CCA478131981CHD4c.2553T>G (p.Ser851=)
c.2592T>G (p.Ser864=)
c.2583T>G (p.Ser861=)
c.2518T>G
c.2532T>G (p.Ser844=)
c.2571T>G (p.Ser857=)
c.1309T>G
c.2559T>G (p.Ser853=)
c.450T>G (p.Ser150=)
n.547T>G
n.2172T>G
c.1520T>G
c.593T>G
12g.6593151A>GCA478131982CHD4c.2553T>C (p.Ser851=)
c.2592T>C (p.Ser864=)
c.2583T>C (p.Ser861=)
c.2518T>C
c.2532T>C (p.Ser844=)
c.2571T>C (p.Ser857=)
c.1309T>C
c.2559T>C (p.Ser853=)
c.450T>C (p.Ser150=)
n.547T>C
n.2172T>C
c.1520T>C
c.593T>C
12g.6593151A>TCA478131983CHD4c.2553T>A (p.Ser851=)
c.2592T>A (p.Ser864=)
c.2583T>A (p.Ser861=)
c.2518T>A
c.2532T>A (p.Ser844=)
c.2571T>A (p.Ser857=)
c.1309T>A
c.2559T>A (p.Ser853=)
c.450T>A (p.Ser150=)
n.547T>A
n.2172T>A
c.1520T>A
c.593T>A
12g.6593152G>ACA383591937CHD4c.2552C>T (p.Ser851Phe)
c.2591C>T (p.Ser864Phe)
c.2582C>T (p.Ser861Phe)
c.2517C>T
c.2531C>T (p.Ser844Phe)
c.2570C>T (p.Ser857Phe)
c.1308C>T
c.2558C>T (p.Ser853Phe)
c.449C>T (p.Ser150Phe)
n.546C>T
n.2171C>T
c.1519C>T
c.592C>T
12g.6593152G>CCA383591952CHD4c.2552C>G (p.Ser851Cys)
c.2591C>G (p.Ser864Cys)
c.2582C>G (p.Ser861Cys)
c.2517C>G
c.2531C>G (p.Ser844Cys)
c.2570C>G (p.Ser857Cys)
c.1308C>G
c.2558C>G (p.Ser853Cys)
c.449C>G (p.Ser150Cys)
n.546C>G
n.2171C>G
c.1519C>G
c.592C>G
12g.6593152G>TCA383591940CHD4c.2552C>A (p.Ser851Tyr)
c.2591C>A (p.Ser864Tyr)
c.2582C>A (p.Ser861Tyr)
c.2517C>A
c.2531C>A (p.Ser844Tyr)
c.2570C>A (p.Ser857Tyr)
c.1308C>A
c.2558C>A (p.Ser853Tyr)
c.449C>A (p.Ser150Tyr)
n.546C>A
n.2171C>A
c.1519C>A
c.592C>A
12g.6593153A>CCA383591955CHD4c.2551T>G (p.Ser851Ala)
c.2590T>G (p.Ser864Ala)
c.2581T>G (p.Ser861Ala)
c.2516T>G
c.2530T>G (p.Ser844Ala)
c.2569T>G (p.Ser857Ala)
c.1307T>G
c.2557T>G (p.Ser853Ala)
c.448T>G (p.Ser150Ala)
n.545T>G
n.2170T>G
c.1518T>G
c.591T>G
12g.6593153A>GCA383591962CHD4c.2551T>C (p.Ser851Pro)
c.2590T>C (p.Ser864Pro)
c.2581T>C (p.Ser861Pro)
c.2516T>C
c.2530T>C (p.Ser844Pro)
c.2569T>C (p.Ser857Pro)
c.1307T>C
c.2557T>C (p.Ser853Pro)
c.448T>C (p.Ser150Pro)
n.545T>C
n.2170T>C
c.1518T>C
c.591T>C
 gnomAD v4
12g.6593153A>TCA383591958CHD4c.2551T>A (p.Ser851Thr)
c.2590T>A (p.Ser864Thr)
c.2581T>A (p.Ser861Thr)
c.2516T>A
c.2530T>A (p.Ser844Thr)
c.2569T>A (p.Ser857Thr)
c.1307T>A
c.2557T>A (p.Ser853Thr)
c.448T>A (p.Ser150Thr)
n.545T>A
n.2170T>A
c.1518T>A
c.591T>A
12g.6593154G>ACA478131987CHD4c.2550C>T (p.Gly850=)
c.2589C>T (p.Gly863=)
c.2580C>T (p.Gly860=)
c.2515C>T
c.2529C>T (p.Gly843=)
c.2568C>T (p.Gly856=)
c.1306C>T
c.2556C>T (p.Gly852=)
c.447C>T (p.Gly149=)
n.544C>T
n.2169C>T
c.1517C>T
c.590C>T
 dbSNP gnomAD v4
12g.6593154G>CCA478131988CHD4c.2550C>G (p.Gly850=)
c.2589C>G (p.Gly863=)
c.2580C>G (p.Gly860=)
c.2515C>G
c.2529C>G (p.Gly843=)
c.2568C>G (p.Gly856=)
c.1306C>G
c.2556C>G (p.Gly852=)
c.447C>G (p.Gly149=)
n.544C>G
n.2169C>G
c.1517C>G
c.590C>G
 dbSNP
12g.6593154G=CA2014149218CHD4c.2550C= (p.Gly850=)
c.2589C= (p.Gly863=)
c.2580C= (p.Gly860=)
c.2515C=
c.2529C= (p.Gly843=)
c.2568C= (p.Gly856=)
c.1306C=
c.2556C= (p.Gly852=)
c.447C= (p.Gly149=)
n.544C=
n.2169C=
c.1517C=
c.590C=
12g.6593154G>TCA478131989CHD4c.2550C>A (p.Gly850=)
c.2589C>A (p.Gly863=)
c.2580C>A (p.Gly860=)
c.2515C>A
c.2529C>A (p.Gly843=)
c.2568C>A (p.Gly856=)
c.1306C>A
c.2556C>A (p.Gly852=)
c.447C>A (p.Gly149=)
n.544C>A
n.2169C>A
c.1517C>A
c.590C>A
 gnomAD v4
12g.6593155C>ACA383591966CHD4c.2549G>T (p.Gly850Val)
c.2588G>T (p.Gly863Val)
c.2579G>T (p.Gly860Val)
c.2514G>T
c.2528G>T (p.Gly843Val)
c.2567G>T (p.Gly856Val)
c.1305G>T
c.2555G>T (p.Gly852Val)
c.446G>T (p.Gly149Val)
n.543G>T
n.2168G>T
c.1516G>T
c.589G>T
12g.6593155C=CA2014149221CHD4c.2549G= (p.Gly850=)
c.2588G= (p.Gly863=)
c.2579G= (p.Gly860=)
c.2514G=
c.2528G= (p.Gly843=)
c.2567G= (p.Gly856=)
c.1305G=
c.2555G= (p.Gly852=)
c.446G= (p.Gly149=)
n.543G=
n.2168G=
c.1516G=
c.589G=
12g.6593155C>GCA383591969CHD4c.2549G>C (p.Gly850Ala)
c.2588G>C (p.Gly863Ala)
c.2579G>C (p.Gly860Ala)
c.2514G>C
c.2528G>C (p.Gly843Ala)
c.2567G>C (p.Gly856Ala)
c.1305G>C
c.2555G>C (p.Gly852Ala)
c.446G>C (p.Gly149Ala)
n.543G>C
n.2168G>C
c.1516G>C
c.589G>C
 dbSNP gnomAD v2 gnomAD v4
12g.6593155C>TCA383591971CHD4c.2549G>A (p.Gly850Asp)
c.2588G>A (p.Gly863Asp)
c.2579G>A (p.Gly860Asp)
c.2514G>A
c.2528G>A (p.Gly843Asp)
c.2567G>A (p.Gly856Asp)
c.1305G>A
c.2555G>A (p.Gly852Asp)
c.446G>A (p.Gly149Asp)
n.543G>A
n.2168G>A
c.1516G>A
c.589G>A
12g.6593156C>ACA383591977CHD4c.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
12g.6593156C>GCA383591980CHD4c.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
12g.6593156C>TCA383591982CHD4c.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
12g.6593157C>ACA383591986CHD4c.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
12g.6593157C>GCA383591989CHD4c.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
12g.6593157C>TCA478131991CHD4c.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
12g.6593158A>CCA383591994CHD4c.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
12g.6593158A>GCA383592001CHD4c.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
12g.6593158A>TCA383592003CHD4c.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
12g.6593159A>CCA383592005CHD4c.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
12g.6593159A>GCA478131992CHD4c.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
12g.6593159A>TCA383592009CHD4c.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
12g.6593160A>CCA383592015CHD4c.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
12g.6593160A>GCA478131993CHD4c.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
12g.6593160A>TCA478131995CHD4c.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
12g.6593161A>CCA383592018CHD4c.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
12g.6593161A>GCA383592022CHD4c.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
12g.6593161A>TCA383592024CHD4c.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
12g.6593162T>ACA383592027CHD4c.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
12g.6593162T>CCA6411940CHD4c.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
12g.6593162T>GCA383592031CHD4c.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
12g.6593162T=CA2014149224CHD4c.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=
12g.6593163A>CCA478131996CHD4c.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
12g.6593163A>GCA478131998CHD4c.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
12g.6593163A>TCA478131997CHD4c.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
12g.6593164G>ACA383592035CHD4c.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
12g.6593164G>CCA383592046CHD4c.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
12g.6593164G>TCA383592047CHD4c.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
12g.6593165C>ACA383592051CHD4c.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
12g.6593165C>GCA383592052CHD4c.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
12g.6593165C>TCA383592053CHD4c.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
12g.6593166C>ACA383592061CHD4c.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
12g.6593166C>GCA383592057CHD4c.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
12g.6593166C>TCA383592055CHD4c.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
12g.6593167A>CCA383592065CHD4c.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
12g.6593167A>GCA383592067CHD4c.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
12g.6593167A>TCA383592071CHD4c.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
12g.6593168T>ACA383592076CHD4c.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
12g.6593168T>CCA232392916CHD4c.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
12g.6593168T>GCA383592081CHD4c.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
12g.6593168T=CA2014149228CHD4c.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=
12g.6593169G>ACA478132001CHD4c.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
12g.6593169G>CCA383592088CHD4c.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
12g.6593169G>TCA383592091CHD4c.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
12g.6593170T>ACA383592095CHD4c.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
12g.6593170T>CCA383592098CHD4c.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
12g.6593170T>GCA383592100CHD4c.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
12g.6593171C>ACA383592102CHD4c.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
12g.6593171C>GCA383592103CHD4c.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
12g.6593171C>TCA383592105CHD4c.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
12g.6593172A>CCA383592106CHD4c.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
12g.6593172A>GCA478132002CHD4c.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
12g.6593172A>TCA478132003CHD4c.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
12g.6593173A>CCA383592110CHD4c.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
12g.6593173A>GCA383592111CHD4c.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
12g.6593173A>TCA383592112CHD4c.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
12g.6593174T>ACA383592115CHD4c.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
12g.6593174T>CCA383592118CHD4c.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
12g.6593174T>GCA383592121CHD4c.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
12g.6593175G>ACA478132004CHD4c.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
12g.6593175G>CCA478132005CHD4c.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
12g.6593175G=CA2014149230CHD4c.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=
12g.6593175G>TCA478132006CHD4c.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
12g.6593176G>ACA383592125CHD4c.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
12g.6593176G>CCA383592129CHD4c.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
12g.6593176G>TCA383592133CHD4c.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
12g.6593177T>ACA383592136CHD4c.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
12g.6593177T>CCA383592139CHD4c.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
12g.6593177T>GCA383592142CHD4c.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
12g.6593178G>ACA478132007CHD4c.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
12g.6593178G>CCA383592146CHD4c.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
12g.6593178G>TCA478132008CHD4c.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
12g.6593179A>CCA383592151CHD4c.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
12g.6593179A>GCA383592163CHD4c.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
12g.6593179A>TCA383592159CHD4c.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
12g.6593180T>ACA383592166CHD4c.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
12g.6593180T>CCA383592173CHD4c.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
12g.6593180T>GCA383592169CHD4c.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
12g.6593181C>ACA383592177CHD4c.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
12g.6593181C=CA2014149231CHD4c.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=
12g.6593181C>GCA383592181CHD4c.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
12g.6593181C>TCA6411941CHD4c.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
12g.6593182A>CCA383592183CHD4c.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
12g.6593182A>GCA383592186CHD4c.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
12g.6593182A>TCA383592195CHD4c.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
12g.6593183A=CA2014149233CHD4c.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=
12g.6593183A>CCA383592198CHD4c.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
12g.6593183A>GCA6411942CHD4c.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
12g.6593183A>TCA383592199CHD4c.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
12g.6593184T>ACA383592201CHD4c.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
12g.6593184T>CCA478132010CHD4c.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
12g.6593184T>GCA383592203CHD4c.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
12g.6593185T>ACA383592207CHD4c.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
12g.6593185T>CCA383592209CHD4c.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
12g.6593185T>GCA383592214CHD4c.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
12g.6593186C>ACA383592224CHD4c.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
12g.6593186C>GCA383592221CHD4c.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
12g.6593186C>TCA383592218CHD4c.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
12g.6593187A>CCA383592228CHD4c.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
12g.6593187A>GCA478132014CHD4c.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
12g.6593187A>TCA383592231CHD4c.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
12g.6593188T>ACA383592234CHD4c.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
12g.6593188T>CCA383592238CHD4c.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
12g.6593188T>GCA383592240CHD4c.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
12g.6593189A>CCA383592244CHD4c.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
12g.6593189A>GCA383592246CHD4c.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
12g.6593189A>TCA383592247CHD4c.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
12g.6593190G>ACA478132016CHD4c.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
12g.6593190G>CCA478132017CHD4c.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
12g.6593190G>TCA478132018CHD4c.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
12g.6593191G>ACA383592248CHD4c.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
12g.6593191G>CCA383592250CHD4c.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
12g.6593191G=CA2014149238CHD4c.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=
12g.6593191G>TCA10588997CHD4c.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
12g.6593192A>CCA383592262CHD4c.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
12g.6593192A>GCA383592261CHD4c.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
12g.6593192A>TCA383592260CHD4c.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
12g.6593193T>ACA478132022CHD4c.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
12g.6593193T>CCA478132020CHD4c.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
12g.6593193T>GCA478132021CHD4c.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
12g.6593193T=CA2014149242CHD4c.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=

Number of alleles fetched