Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6593443A>CCA478132649CHD4c.2448T>G (p.Arg816=)
c.2487T>G (p.Arg829=)
c.2478T>G (p.Arg826=)
c.2413T>G
c.2427T>G (p.Arg809=)
c.2466T>G (p.Arg822=)
c.1204T>G
c.2454T>G (p.Arg818=)
c.345T>G (p.Arg115=)
n.442T>G
n.2067T>G
c.1415T>G
c.488T>G
12g.6593443A>GCA478132650CHD4c.2448T>C (p.Arg816=)
c.2487T>C (p.Arg829=)
c.2478T>C (p.Arg826=)
c.2413T>C
c.2427T>C (p.Arg809=)
c.2466T>C (p.Arg822=)
c.1204T>C
c.2454T>C (p.Arg818=)
c.345T>C (p.Arg115=)
n.442T>C
n.2067T>C
c.1415T>C
c.488T>C
12g.6593443A>TCA478132651CHD4c.2448T>A (p.Arg816=)
c.2487T>A (p.Arg829=)
c.2478T>A (p.Arg826=)
c.2413T>A
c.2427T>A (p.Arg809=)
c.2466T>A (p.Arg822=)
c.1204T>A
c.2454T>A (p.Arg818=)
c.345T>A (p.Arg115=)
n.442T>A
n.2067T>A
c.1415T>A
c.488T>A
12g.6593444C>ACA383592858CHD4c.2447G>T (p.Arg816Leu)
c.2486G>T (p.Arg829Leu)
c.2477G>T (p.Arg826Leu)
c.2412G>T
c.2426G>T (p.Arg809Leu)
c.2465G>T (p.Arg822Leu)
c.1203G>T
c.2453G>T (p.Arg818Leu)
c.344G>T (p.Arg115Leu)
n.441G>T
n.2066G>T
c.1414G>T
c.487G>T
12g.6593444C>GCA383592862CHD4c.2447G>C (p.Arg816Pro)
c.2486G>C (p.Arg829Pro)
c.2477G>C (p.Arg826Pro)
c.2412G>C
c.2426G>C (p.Arg809Pro)
c.2465G>C (p.Arg822Pro)
c.1203G>C
c.2453G>C (p.Arg818Pro)
c.344G>C (p.Arg115Pro)
n.441G>C
n.2066G>C
c.1414G>C
c.487G>C
12g.6593444C>TCA383592865CHD4c.2447G>A (p.Arg816His)
c.2486G>A (p.Arg829His)
c.2477G>A (p.Arg826His)
c.2412G>A
c.2426G>A (p.Arg809His)
c.2465G>A (p.Arg822His)
c.1203G>A
c.2453G>A (p.Arg818His)
c.344G>A (p.Arg115His)
n.441G>A
n.2066G>A
c.1414G>A
c.487G>A
 gnomAD v4
12g.6593445G>ACA383592870CHD4c.2446C>T (p.Arg816Cys)
c.2485C>T (p.Arg829Cys)
c.2476C>T (p.Arg826Cys)
c.2411C>T
c.2425C>T (p.Arg809Cys)
c.2464C>T (p.Arg822Cys)
c.1202C>T
c.2452C>T (p.Arg818Cys)
c.343C>T (p.Arg115Cys)
n.440C>T
n.2065C>T
c.1413C>T
c.486C>T
 dbSNP gnomAD v4
12g.6593445G>CCA383592880CHD4c.2446C>G (p.Arg816Gly)
c.2485C>G (p.Arg829Gly)
c.2476C>G (p.Arg826Gly)
c.2411C>G
c.2425C>G (p.Arg809Gly)
c.2464C>G (p.Arg822Gly)
c.1202C>G
c.2452C>G (p.Arg818Gly)
c.343C>G (p.Arg115Gly)
n.440C>G
n.2065C>G
c.1413C>G
c.486C>G
12g.6593445G>TCA383592883CHD4c.2446C>A (p.Arg816Ser)
c.2485C>A (p.Arg829Ser)
c.2476C>A (p.Arg826Ser)
c.2411C>A
c.2425C>A (p.Arg809Ser)
c.2464C>A (p.Arg822Ser)
c.1202C>A
c.2452C>A (p.Arg818Ser)
c.343C>A (p.Arg115Ser)
n.440C>A
n.2065C>A
c.1413C>A
c.486C>A
12g.6593446A>CCA383592886CHD4c.2445T>G (p.Ile815Met)
c.2484T>G (p.Ile828Met)
c.2475T>G (p.Ile825Met)
c.2410T>G
c.2424T>G (p.Ile808Met)
c.2463T>G (p.Ile821Met)
c.1201T>G
c.2451T>G (p.Ile817Met)
c.342T>G (p.Ile114Met)
n.439T>G
n.2064T>G
c.1412T>G
c.485T>G
12g.6593446A>GCA478132660CHD4c.2445T>C (p.Ile815=)
c.2484T>C (p.Ile828=)
c.2475T>C (p.Ile825=)
c.2410T>C
c.2424T>C (p.Ile808=)
c.2463T>C (p.Ile821=)
c.1201T>C
c.2451T>C (p.Ile817=)
c.342T>C (p.Ile114=)
n.439T>C
n.2064T>C
c.1412T>C
c.485T>C
12g.6593446A>TCA478132663CHD4c.2445T>A (p.Ile815=)
c.2484T>A (p.Ile828=)
c.2475T>A (p.Ile825=)
c.2410T>A
c.2424T>A (p.Ile808=)
c.2463T>A (p.Ile821=)
c.1201T>A
c.2451T>A (p.Ile817=)
c.342T>A (p.Ile114=)
n.439T>A
n.2064T>A
c.1412T>A
c.485T>A
12g.6593447A>CCA383592888CHD4c.2444T>G (p.Ile815Ser)
c.2483T>G (p.Ile828Ser)
c.2474T>G (p.Ile825Ser)
c.2409T>G
c.2423T>G (p.Ile808Ser)
c.2462T>G (p.Ile821Ser)
c.1200T>G
c.2450T>G (p.Ile817Ser)
c.341T>G (p.Ile114Ser)
n.438T>G
n.2063T>G
c.1411T>G
c.484T>G
12g.6593447A>GCA383592891CHD4c.2444T>C (p.Ile815Thr)
c.2483T>C (p.Ile828Thr)
c.2474T>C (p.Ile825Thr)
c.2409T>C
c.2423T>C (p.Ile808Thr)
c.2462T>C (p.Ile821Thr)
c.1200T>C
c.2450T>C (p.Ile817Thr)
c.341T>C (p.Ile114Thr)
n.438T>C
n.2063T>C
c.1411T>C
c.484T>C
12g.6593447A>TCA383592895CHD4c.2444T>A (p.Ile815Asn)
c.2483T>A (p.Ile828Asn)
c.2474T>A (p.Ile825Asn)
c.2409T>A
c.2423T>A (p.Ile808Asn)
c.2462T>A (p.Ile821Asn)
c.1200T>A
c.2450T>A (p.Ile817Asn)
c.341T>A (p.Ile114Asn)
n.438T>A
n.2063T>A
c.1411T>A
c.484T>A
12g.6593448T>ACA383592905CHD4c.2443A>T (p.Ile815Phe)
c.2482A>T (p.Ile828Phe)
c.2473A>T (p.Ile825Phe)
c.2408A>T
c.2422A>T (p.Ile808Phe)
c.2461A>T (p.Ile821Phe)
c.1199A>T
c.2449A>T (p.Ile817Phe)
c.340A>T (p.Ile114Phe)
n.437A>T
n.2062A>T
c.1410A>T
c.483A>T
12g.6593448T>CCA383592907CHD4c.2443A>G (p.Ile815Val)
c.2482A>G (p.Ile828Val)
c.2473A>G (p.Ile825Val)
c.2408A>G
c.2422A>G (p.Ile808Val)
c.2461A>G (p.Ile821Val)
c.1199A>G
c.2449A>G (p.Ile817Val)
c.340A>G (p.Ile114Val)
n.437A>G
n.2062A>G
c.1410A>G
c.483A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593448T>GCA383592900CHD4c.2443A>C (p.Ile815Leu)
c.2482A>C (p.Ile828Leu)
c.2473A>C (p.Ile825Leu)
c.2408A>C
c.2422A>C (p.Ile808Leu)
c.2461A>C (p.Ile821Leu)
c.1199A>C
c.2449A>C (p.Ile817Leu)
c.340A>C (p.Ile114Leu)
n.437A>C
n.2062A>C
c.1410A>C
c.483A>C
12g.6593448T=CA2014149513CHD4c.2443A= (p.Ile815=)
c.2482A= (p.Ile828=)
c.2473A= (p.Ile825=)
c.2408A=
c.2422A= (p.Ile808=)
c.2461A= (p.Ile821=)
c.1199A=
c.2449A= (p.Ile817=)
c.340A= (p.Ile114=)
n.437A=
n.2062A=
c.1410A=
c.483A=
12g.6593449G>ACA478132674CHD4c.2442C>T (p.Ala814=)
c.2481C>T (p.Ala827=)
c.2472C>T (p.Ala824=)
c.2407C>T
c.2421C>T (p.Ala807=)
c.2460C>T (p.Ala820=)
c.1198C>T
c.2448C>T (p.Ala816=)
c.339C>T (p.Ala113=)
n.436C>T
n.2061C>T
c.1409C>T
c.482C>T
 COSMIC COSMIC COSMIC
12g.6593449G>CCA478132676CHD4c.2442C>G (p.Ala814=)
c.2481C>G (p.Ala827=)
c.2472C>G (p.Ala824=)
c.2407C>G
c.2421C>G (p.Ala807=)
c.2460C>G (p.Ala820=)
c.1198C>G
c.2448C>G (p.Ala816=)
c.339C>G (p.Ala113=)
n.436C>G
n.2061C>G
c.1409C>G
c.482C>G
12g.6593449G>TCA478132679CHD4c.2442C>A (p.Ala814=)
c.2481C>A (p.Ala827=)
c.2472C>A (p.Ala824=)
c.2407C>A
c.2421C>A (p.Ala807=)
c.2460C>A (p.Ala820=)
c.1198C>A
c.2448C>A (p.Ala816=)
c.339C>A (p.Ala113=)
n.436C>A
n.2061C>A
c.1409C>A
c.482C>A
12g.6593450G>ACA383592913CHD4c.2441C>T (p.Ala814Val)
c.2480C>T (p.Ala827Val)
c.2471C>T (p.Ala824Val)
c.2406C>T
c.2420C>T (p.Ala807Val)
c.2459C>T (p.Ala820Val)
c.1197C>T
c.2447C>T (p.Ala816Val)
c.338C>T (p.Ala113Val)
n.435C>T
n.2060C>T
c.1408C>T
c.481C>T
 dbSNP
12g.6593450G>CCA383592917CHD4c.2441C>G (p.Ala814Gly)
c.2480C>G (p.Ala827Gly)
c.2471C>G (p.Ala824Gly)
c.2406C>G
c.2420C>G (p.Ala807Gly)
c.2459C>G (p.Ala820Gly)
c.1197C>G
c.2447C>G (p.Ala816Gly)
c.338C>G (p.Ala113Gly)
n.435C>G
n.2060C>G
c.1408C>G
c.481C>G
12g.6593450G>TCA383592921CHD4c.2441C>A (p.Ala814Asp)
c.2480C>A (p.Ala827Asp)
c.2471C>A (p.Ala824Asp)
c.2406C>A
c.2420C>A (p.Ala807Asp)
c.2459C>A (p.Ala820Asp)
c.1197C>A
c.2447C>A (p.Ala816Asp)
c.338C>A (p.Ala113Asp)
n.435C>A
n.2060C>A
c.1408C>A
c.481C>A
12g.6593451C>ACA383592924CHD4c.2440G>T (p.Ala814Ser)
c.2479G>T (p.Ala827Ser)
c.2470G>T (p.Ala824Ser)
c.2405G>T
c.2419G>T (p.Ala807Ser)
c.2458G>T (p.Ala820Ser)
c.1196G>T
c.2446G>T (p.Ala816Ser)
c.337G>T (p.Ala113Ser)
n.434G>T
n.2059G>T
c.1407G>T
c.480G>T
12g.6593451C>GCA383592926CHD4c.2440G>C (p.Ala814Pro)
c.2479G>C (p.Ala827Pro)
c.2470G>C (p.Ala824Pro)
c.2405G>C
c.2419G>C (p.Ala807Pro)
c.2458G>C (p.Ala820Pro)
c.1196G>C
c.2446G>C (p.Ala816Pro)
c.337G>C (p.Ala113Pro)
n.434G>C
n.2059G>C
c.1407G>C
c.480G>C
12g.6593451C>TCA383592929CHD4c.2440G>A (p.Ala814Thr)
c.2479G>A (p.Ala827Thr)
c.2470G>A (p.Ala824Thr)
c.2405G>A
c.2419G>A (p.Ala807Thr)
c.2458G>A (p.Ala820Thr)
c.1196G>A
c.2446G>A (p.Ala816Thr)
c.337G>A (p.Ala113Thr)
n.434G>A
n.2059G>A
c.1407G>A
c.480G>A
12g.6593451_6593453delinsCATCA2014149516CHD4c.2438_2440delinsATG (p.Asn813=)
c.2477_2479delinsATG (p.Asn826=)
c.2468_2470delinsATG (p.Asn823=)
c.2403_2405delinsATG
c.2417_2419delinsATG (p.Asn806=)
c.2456_2458delinsATG (p.Asn819=)
c.1194_1196delinsATG
c.2444_2446delinsATG (p.Asn815=)
c.335_337delinsATG (p.Asn112=)
n.432_434delinsATG
n.2057_2059delinsATG
c.1405_1407delinsATG
c.478_480delinsATG
12g.6593452A=CA2014149520CHD4c.2439T= (p.Asn813=)
c.2478T= (p.Asn826=)
c.2469T= (p.Asn823=)
c.2404T=
c.2418T= (p.Asn806=)
c.2457T= (p.Asn819=)
c.1195T=
c.2445T= (p.Asn815=)
c.336T= (p.Asn112=)
n.433T=
n.2058T=
c.1406T=
c.479T=
12g.6593452A>CCA383592930CHD4c.2439T>G (p.Asn813Lys)
c.2478T>G (p.Asn826Lys)
c.2469T>G (p.Asn823Lys)
c.2404T>G
c.2418T>G (p.Asn806Lys)
c.2457T>G (p.Asn819Lys)
c.1195T>G
c.2445T>G (p.Asn815Lys)
c.336T>G (p.Asn112Lys)
n.433T>G
n.2058T>G
c.1406T>G
c.479T>G
 ClinVar dbSNP
12g.6593452A>GCA478132691CHD4c.2439T>C (p.Asn813=)
c.2478T>C (p.Asn826=)
c.2469T>C (p.Asn823=)
c.2404T>C
c.2418T>C (p.Asn806=)
c.2457T>C (p.Asn819=)
c.1195T>C
c.2445T>C (p.Asn815=)
c.336T>C (p.Asn112=)
n.433T>C
n.2058T>C
c.1406T>C
c.479T>C
 gnomAD v4
12g.6593452A>TCA383592931CHD4c.2439T>A (p.Asn813Lys)
c.2478T>A (p.Asn826Lys)
c.2469T>A (p.Asn823Lys)
c.2404T>A
c.2418T>A (p.Asn806Lys)
c.2457T>A (p.Asn819Lys)
c.1195T>A
c.2445T>A (p.Asn815Lys)
c.336T>A (p.Asn112Lys)
n.433T>A
n.2058T>A
c.1406T>A
c.479T>A
12g.6593452_6593453delCA6411959CHD4c.2438_2439del (p.Asn813SerfsTer27)
c.2477_2478del (p.Asn826SerfsTer27)
c.2468_2469del (p.Asn823SerfsTer27)
c.2403_2404del
c.2417_2418del (p.Asn806SerfsTer27)
c.2456_2457del (p.Asn819SerfsTer27)
c.1194_1195del
c.2444_2445del (p.Asn815SerfsTer27)
c.335_336del (p.Asn112SerfsTer27)
n.432_433del
n.2057_2058del
c.1405_1406del
c.478_479del
 dbSNP ExAC
12g.6593453T>ACA383592941CHD4c.2438A>T (p.Asn813Ile)
c.2477A>T (p.Asn826Ile)
c.2468A>T (p.Asn823Ile)
c.2403A>T
c.2417A>T (p.Asn806Ile)
c.2456A>T (p.Asn819Ile)
c.1194A>T
c.2444A>T (p.Asn815Ile)
c.335A>T (p.Asn112Ile)
n.432A>T
n.2057A>T
c.1405A>T
c.478A>T
12g.6593453T>CCA6411960CHD4c.2438A>G (p.Asn813Ser)
c.2477A>G (p.Asn826Ser)
c.2468A>G (p.Asn823Ser)
c.2403A>G
c.2417A>G (p.Asn806Ser)
c.2456A>G (p.Asn819Ser)
c.1194A>G
c.2444A>G (p.Asn815Ser)
c.335A>G (p.Asn112Ser)
n.432A>G
n.2057A>G
c.1405A>G
c.478A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593453T>GCA383592943CHD4c.2438A>C (p.Asn813Thr)
c.2477A>C (p.Asn826Thr)
c.2468A>C (p.Asn823Thr)
c.2403A>C
c.2417A>C (p.Asn806Thr)
c.2456A>C (p.Asn819Thr)
c.1194A>C
c.2444A>C (p.Asn815Thr)
c.335A>C (p.Asn112Thr)
n.432A>C
n.2057A>C
c.1405A>C
c.478A>C
12g.6593453T=CA2014149524CHD4c.2438A= (p.Asn813=)
c.2477A= (p.Asn826=)
c.2468A= (p.Asn823=)
c.2403A=
c.2417A= (p.Asn806=)
c.2456A= (p.Asn819=)
c.1194A=
c.2444A= (p.Asn815=)
c.335A= (p.Asn112=)
n.432A=
n.2057A=
c.1405A=
c.478A=
12g.6593454T>ACA383592947CHD4c.2437A>T (p.Asn813Tyr)
c.2476A>T (p.Asn826Tyr)
c.2467A>T (p.Asn823Tyr)
c.2402A>T
c.2416A>T (p.Asn806Tyr)
c.2455A>T (p.Asn819Tyr)
c.1193A>T
c.2443A>T (p.Asn815Tyr)
c.334A>T (p.Asn112Tyr)
n.431A>T
n.2056A>T
c.1404A>T
c.477A>T
12g.6593454T>CCA383592949CHD4c.2437A>G (p.Asn813Asp)
c.2476A>G (p.Asn826Asp)
c.2467A>G (p.Asn823Asp)
c.2402A>G
c.2416A>G (p.Asn806Asp)
c.2455A>G (p.Asn819Asp)
c.1193A>G
c.2443A>G (p.Asn815Asp)
c.334A>G (p.Asn112Asp)
n.431A>G
n.2056A>G
c.1404A>G
c.477A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593454T>GCA383592945CHD4c.2437A>C (p.Asn813His)
c.2476A>C (p.Asn826His)
c.2467A>C (p.Asn823His)
c.2402A>C
c.2416A>C (p.Asn806His)
c.2455A>C (p.Asn819His)
c.1193A>C
c.2443A>C (p.Asn815His)
c.334A>C (p.Asn112His)
n.431A>C
n.2056A>C
c.1404A>C
c.477A>C
12g.6593454T=CA2014149531CHD4c.2437A= (p.Asn813=)
c.2476A= (p.Asn826=)
c.2467A= (p.Asn823=)
c.2402A=
c.2416A= (p.Asn806=)
c.2455A= (p.Asn819=)
c.1193A=
c.2443A= (p.Asn815=)
c.334A= (p.Asn112=)
n.431A=
n.2056A=
c.1404A=
c.477A=
12g.6593455G>ACA478132713CHD4c.2436C>T (p.Asp812=)
c.2475C>T (p.Asp825=)
c.2466C>T (p.Asp822=)
c.2401C>T
c.2415C>T (p.Asp805=)
c.2454C>T (p.Asp818=)
c.1192C>T
c.2442C>T (p.Asp814=)
c.333C>T (p.Asp111=)
n.430C>T
n.2055C>T
c.1403C>T
c.476C>T
12g.6593455G>CCA383592952CHD4c.2436C>G (p.Asp812Glu)
c.2475C>G (p.Asp825Glu)
c.2466C>G (p.Asp822Glu)
c.2401C>G
c.2415C>G (p.Asp805Glu)
c.2454C>G (p.Asp818Glu)
c.1192C>G
c.2442C>G (p.Asp814Glu)
c.333C>G (p.Asp111Glu)
n.430C>G
n.2055C>G
c.1403C>G
c.476C>G
12g.6593455G>TCA383592954CHD4c.2436C>A (p.Asp812Glu)
c.2475C>A (p.Asp825Glu)
c.2466C>A (p.Asp822Glu)
c.2401C>A
c.2415C>A (p.Asp805Glu)
c.2454C>A (p.Asp818Glu)
c.1192C>A
c.2442C>A (p.Asp814Glu)
c.333C>A (p.Asp111Glu)
n.430C>A
n.2055C>A
c.1403C>A
c.476C>A
12g.6593455_6593462delinsGTCTTCAACA2014149532CHD4c.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
12g.6593456T>ACA383592958CHD4c.2435A>T (p.Asp812Val)
c.2474A>T (p.Asp825Val)
c.2465A>T (p.Asp822Val)
c.2400A>T
c.2414A>T (p.Asp805Val)
c.2453A>T (p.Asp818Val)
c.1191A>T
c.2441A>T (p.Asp814Val)
c.332A>T (p.Asp111Val)
n.429A>T
n.2054A>T
c.1402A>T
c.475A>T
12g.6593456T>CCA383592961CHD4c.2435A>G (p.Asp812Gly)
c.2474A>G (p.Asp825Gly)
c.2465A>G (p.Asp822Gly)
c.2400A>G
c.2414A>G (p.Asp805Gly)
c.2453A>G (p.Asp818Gly)
c.1191A>G
c.2441A>G (p.Asp814Gly)
c.332A>G (p.Asp111Gly)
n.429A>G
n.2054A>G
c.1402A>G
c.475A>G
12g.6593456T>GCA383592963CHD4c.2435A>C (p.Asp812Ala)
c.2474A>C (p.Asp825Ala)
c.2465A>C (p.Asp822Ala)
c.2400A>C
c.2414A>C (p.Asp805Ala)
c.2453A>C (p.Asp818Ala)
c.1191A>C
c.2441A>C (p.Asp814Ala)
c.332A>C (p.Asp111Ala)
n.429A>C
n.2054A>C
c.1402A>C
c.475A>C
12g.6593456_6593462delCA6411961CHD4c.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
12g.6593457C>ACA383592970CHD4c.2434G>T (p.Asp812Tyr)
c.2473G>T (p.Asp825Tyr)
c.2464G>T (p.Asp822Tyr)
c.2399G>T
c.2413G>T (p.Asp805Tyr)
c.2452G>T (p.Asp818Tyr)
c.1190G>T
c.2440G>T (p.Asp814Tyr)
c.331G>T (p.Asp111Tyr)
n.428G>T
n.2053G>T
c.1401G>T
c.474G>T
12g.6593457C>GCA383592975CHD4c.2434G>C (p.Asp812His)
c.2473G>C (p.Asp825His)
c.2464G>C (p.Asp822His)
c.2399G>C
c.2413G>C (p.Asp805His)
c.2452G>C (p.Asp818His)
c.1190G>C
c.2440G>C (p.Asp814His)
c.331G>C (p.Asp111His)
n.428G>C
n.2053G>C
c.1401G>C
c.474G>C
12g.6593457C>TCA383592973CHD4c.2434G>A (p.Asp812Asn)
c.2473G>A (p.Asp825Asn)
c.2464G>A (p.Asp822Asn)
c.2399G>A
c.2413G>A (p.Asp805Asn)
c.2452G>A (p.Asp818Asn)
c.1190G>A
c.2440G>A (p.Asp814Asn)
c.331G>A (p.Asp111Asn)
n.428G>A
n.2053G>A
c.1401G>A
c.474G>A
12g.6593458T>ACA383592978CHD4c.2433A>T (p.Glu811Asp)
c.2472A>T (p.Glu824Asp)
c.2463A>T (p.Glu821Asp)
c.2398A>T
c.2412A>T (p.Glu804Asp)
c.2451A>T (p.Glu817Asp)
c.1189A>T
c.2439A>T (p.Glu813Asp)
c.330A>T (p.Glu110Asp)
n.427A>T
n.2052A>T
c.1400A>T
c.473A>T
12g.6593458T>CCA478132735CHD4c.2433A>G (p.Glu811=)
c.2472A>G (p.Glu824=)
c.2463A>G (p.Glu821=)
c.2398A>G
c.2412A>G (p.Glu804=)
c.2451A>G (p.Glu817=)
c.1189A>G
c.2439A>G (p.Glu813=)
c.330A>G (p.Glu110=)
n.427A>G
n.2052A>G
c.1400A>G
c.473A>G
12g.6593458T>GCA383592981CHD4c.2433A>C (p.Glu811Asp)
c.2472A>C (p.Glu824Asp)
c.2463A>C (p.Glu821Asp)
c.2398A>C
c.2412A>C (p.Glu804Asp)
c.2451A>C (p.Glu817Asp)
c.1189A>C
c.2439A>C (p.Glu813Asp)
c.330A>C (p.Glu110Asp)
n.427A>C
n.2052A>C
c.1400A>C
c.473A>C
12g.6593459T>ACA383592987CHD4c.2432A>T (p.Glu811Val)
c.2471A>T (p.Glu824Val)
c.2462A>T (p.Glu821Val)
c.2397A>T
c.2411A>T (p.Glu804Val)
c.2450A>T (p.Glu817Val)
c.1188A>T
c.2438A>T (p.Glu813Val)
c.329A>T (p.Glu110Val)
n.426A>T
n.2051A>T
c.1399A>T
c.472A>T
 dbSNP
12g.6593459T>CCA383592992CHD4c.2432A>G (p.Glu811Gly)
c.2471A>G (p.Glu824Gly)
c.2462A>G (p.Glu821Gly)
c.2397A>G
c.2411A>G (p.Glu804Gly)
c.2450A>G (p.Glu817Gly)
c.1188A>G
c.2438A>G (p.Glu813Gly)
c.329A>G (p.Glu110Gly)
n.426A>G
n.2051A>G
c.1399A>G
c.472A>G
12g.6593459T>GCA383592994CHD4c.2432A>C (p.Glu811Ala)
c.2471A>C (p.Glu824Ala)
c.2462A>C (p.Glu821Ala)
c.2397A>C
c.2411A>C (p.Glu804Ala)
c.2450A>C (p.Glu817Ala)
c.1188A>C
c.2438A>C (p.Glu813Ala)
c.329A>C (p.Glu110Ala)
n.426A>C
n.2051A>C
c.1399A>C
c.472A>C
12g.6593460C>ACA383593002CHD4c.2431G>T (p.Glu811Ter)
c.2470G>T (p.Glu824Ter)
c.2461G>T (p.Glu821Ter)
c.2396G>T
c.2410G>T (p.Glu804Ter)
c.2449G>T (p.Glu817Ter)
c.1187G>T
c.2437G>T (p.Glu813Ter)
c.328G>T (p.Glu110Ter)
n.425G>T
n.2050G>T
c.1398G>T
c.471G>T
 gnomAD v4
12g.6593460C>GCA383593008CHD4c.2431G>C (p.Glu811Gln)
c.2470G>C (p.Glu824Gln)
c.2461G>C (p.Glu821Gln)
c.2396G>C
c.2410G>C (p.Glu804Gln)
c.2449G>C (p.Glu817Gln)
c.1187G>C
c.2437G>C (p.Glu813Gln)
c.328G>C (p.Glu110Gln)
n.425G>C
n.2050G>C
c.1398G>C
c.471G>C
12g.6593460C>TCA383592998CHD4c.2431G>A (p.Glu811Lys)
c.2470G>A (p.Glu824Lys)
c.2461G>A (p.Glu821Lys)
c.2396G>A
c.2410G>A (p.Glu804Lys)
c.2449G>A (p.Glu817Lys)
c.1187G>A
c.2437G>A (p.Glu813Lys)
c.328G>A (p.Glu110Lys)
n.425G>A
n.2050G>A
c.1398G>A
c.471G>A
12g.6593461A>CCA383593014CHD4c.2430T>G (p.Phe810Leu)
c.2469T>G (p.Phe823Leu)
c.2460T>G (p.Phe820Leu)
c.2395T>G
c.2409T>G (p.Phe803Leu)
c.2448T>G (p.Phe816Leu)
c.1186T>G
c.2436T>G (p.Phe812Leu)
c.327T>G (p.Phe109Leu)
n.424T>G
n.2049T>G
c.1397T>G
c.470T>G
12g.6593461A>GCA478132746CHD4c.2430T>C (p.Phe810=)
c.2469T>C (p.Phe823=)
c.2460T>C (p.Phe820=)
c.2395T>C
c.2409T>C (p.Phe803=)
c.2448T>C (p.Phe816=)
c.1186T>C
c.2436T>C (p.Phe812=)
c.327T>C (p.Phe109=)
n.424T>C
n.2049T>C
c.1397T>C
c.470T>C
12g.6593461A>TCA383593011CHD4c.2430T>A (p.Phe810Leu)
c.2469T>A (p.Phe823Leu)
c.2460T>A (p.Phe820Leu)
c.2395T>A
c.2409T>A (p.Phe803Leu)
c.2448T>A (p.Phe816Leu)
c.1186T>A
c.2436T>A (p.Phe812Leu)
c.327T>A (p.Phe109Leu)
n.424T>A
n.2049T>A
c.1397T>A
c.470T>A
12g.6593462A>CCA383593022CHD4c.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
12g.6593462A>GCA383593029CHD4c.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
12g.6593462A>TCA383593031CHD4c.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
12g.6593463A>CCA383593043CHD4c.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
12g.6593463A>GCA383593050CHD4c.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
12g.6593463A>TCA383593051CHD4c.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
12g.6593464G>ACA478132755CHD4c.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
12g.6593464G>CCA478132756CHD4c.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
12g.6593464G=CA2014149535CHD4c.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=
12g.6593464G>TCA478132757CHD4c.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
12g.6593465G>ACA383593053CHD4c.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
12g.6593465G>CCA383593054CHD4c.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
12g.6593465G>TCA383593056CHD4c.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
12g.6593466A>CCA383593063CHD4c.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
12g.6593466A>GCA383593065CHD4c.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
12g.6593466A>TCA383593068CHD4c.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
12g.6593466_6593495delinsAGAACTCATTCTCTCGGATGATGGCACGGCCA2014149538CHD4c.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
12g.6593467G>ACA6411963CHD4c.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
12g.6593467G>CCA383593072CHD4c.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
12g.6593467G=CA2014149543CHD4c.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=
12g.6593467G>TCA383593076CHD4c.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
12g.6593467_6593495delCA6411962CHD4c.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
12g.6593468A>CCA383593077CHD4c.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
12g.6593468A>GCA383593080CHD4c.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
12g.6593468A>TCA383593081CHD4c.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
12g.6593469A>CCA383593084CHD4c.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
12g.6593469A>GCA383593086CHD4c.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
12g.6593469A>TCA383593088CHD4c.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
12g.6593470C>ACA383593092CHD4c.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
12g.6593470C>GCA383593102CHD4c.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
12g.6593470C>TCA478132779CHD4c.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
12g.6593471T>ACA383593111CHD4c.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
12g.6593471T>CCA383593117CHD4c.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
12g.6593471T>GCA383593119CHD4c.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
12g.6593472C>ACA383593126CHD4c.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
12g.6593472C>GCA383593124CHD4c.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
12g.6593472C>TCA383593122CHD4c.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
12g.6593473A>CCA383593132CHD4c.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
12g.6593473A>GCA478132791CHD4c.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
12g.6593473A>TCA383593129CHD4c.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
12g.6593474T>ACA383593135CHD4c.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
12g.6593474T>CCA383593136CHD4c.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
12g.6593474T>GCA383593137CHD4c.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
12g.6593475T>ACA383593140CHD4c.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
12g.6593475T>CCA383593141CHD4c.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
12g.6593475T>GCA383593146CHD4c.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
12g.6593476C>ACA383593150CHD4c.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
12g.6593476C=CA2014149545CHD4c.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=
12g.6593476C>GCA383593152CHD4c.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
12g.6593476C>TCA6411964CHD4c.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
12g.6593477T>ACA383593157CHD4c.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
12g.6593477T>CCA383593161CHD4c.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
12g.6593477T>GCA383593163CHD4c.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
12g.6593477T=CA2014149547CHD4c.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=
12g.6593478C>ACA383593166CHD4c.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
12g.6593478C=CA2014149551CHD4c.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=
12g.6593478C>GCA383593164CHD4c.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
12g.6593478C>TCA383593165CHD4c.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
12g.6593479T>ACA478132811CHD4c.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
12g.6593479T>CCA478132814CHD4c.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
12g.6593479T>GCA478132817CHD4c.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
12g.6593480C>ACA383593169CHD4c.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
12g.6593480C=CA2014149554CHD4c.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=
12g.6593480C>GCA383593170CHD4c.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
12g.6593480C>TCA6411965CHD4c.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
12g.6593481G>ACA383593171CHD4c.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
12g.6593481G>CCA383593173CHD4c.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
12g.6593481G=CA2014149558CHD4c.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=
12g.6593481G>TCA478132823CHD4c.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
12g.6593482G>ACA478132827CHD4c.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
12g.6593482G>CCA383593177CHD4c.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
12g.6593482G>TCA478132831CHD4c.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
12g.6593483A>CCA383593180CHD4c.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
12g.6593483A>GCA383593183CHD4c.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
12g.6593483A>TCA383593186CHD4c.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
12g.6593484T>ACA383593189CHD4c.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
12g.6593484T>CCA383593190CHD4c.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
12g.6593484T>GCA383593191CHD4c.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
12g.6593485G>ACA478132838CHD4c.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
12g.6593485G>CCA383593192CHD4c.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
12g.6593485G>TCA478132841CHD4c.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
12g.6593486A>CCA383593198CHD4c.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
12g.6593486A>GCA383593200CHD4c.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
12g.6593486A>TCA383593196CHD4c.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
12g.6593487T>ACA383593203CHD4c.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
12g.6593487T>CCA383593212CHD4c.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
12g.6593487T>GCA383593206CHD4c.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
12g.6593488G>ACA232392995CHD4c.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
12g.6593488G>CCA478132852CHD4c.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
12g.6593488G=CA2014149562CHD4c.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=
12g.6593488G>TCA478132855CHD4c.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
12g.6593489G>ACA383593224CHD4c.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
12g.6593489G>CCA383593226CHD4c.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
12g.6593489G>TCA383593228CHD4c.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
12g.6593490C>ACA383593230CHD4c.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
12g.6593490C>GCA383593232CHD4c.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
12g.6593490C>TCA383593234CHD4c.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
12g.6593491A>CCA478132870CHD4c.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
12g.6593491A>GCA478132868CHD4c.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
12g.6593491A>TCA478132866CHD4c.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
12g.6593492C>ACA383593236CHD4c.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
12g.6593492C>GCA383593242CHD4c.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
12g.6593492C>TCA383593243CHD4c.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
12g.6593493G>ACA383593245CHD4c.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
12g.6593493G>CCA383593246CHD4c.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
12g.6593493G>TCA383593247CHD4c.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
12g.6593494G>ACA478132885CHD4c.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
12g.6593494G>CCA383593249CHD4c.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
12g.6593494G>TCA383593250CHD4c.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
12g.6593495C>ACA383593252CHD4c.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
12g.6593495C>GCA383593254CHD4c.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
12g.6593495C>TCA383593255CHD4c.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
12g.6593496T>ACA383593259CHD4c.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
12g.6593496T>CCA383593260CHD4c.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
12g.6593496T>GCA383593262CHD4c.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
12g.6593497G>ACA478132895CHD4c.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
12g.6593497G>CCA383593264CHD4c.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
12g.6593497G>TCA383593266CHD4c.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
12g.6593498T>ACA383593268CHD4c.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
12g.6593498T>CCA383593270CHD4c.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
12g.6593498T>GCA383593271CHD4c.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
12g.6593499C>ACA6411966CHD4c.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
12g.6593499C=CA2014149564CHD4c.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=
12g.6593499C>GCA383593277CHD4c.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
12g.6593499C>TCA383593274CHD4c.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
12g.6593500C>ACA383593280CHD4c.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
12g.6593500C=CA2014149569CHD4c.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=
12g.6593500C>GCA383593282CHD4c.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
12g.6593500C>TCA232392997CHD4c.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
12g.6593501T>ACA383593284CHD4c.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
12g.6593501T>CCA383593286CHD4c.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
12g.6593501T>GCA383593287CHD4c.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
12g.6593502T>ACA383593291CHD4c.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
12g.6593502T>CCA383593290CHD4c.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
12g.6593502T>GCA383593289CHD4c.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
12g.6593503G>ACA6411967CHD4c.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
12g.6593503G>CCA383593292CHD4c.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
12g.6593503G=CA2014149571CHD4c.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=
12g.6593503G>TCA383593293CHD4c.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
12g.6593504T>ACA383593296CHD4c.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
12g.6593504T>CCA383593299CHD4c.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
12g.6593504T>GCA383593301CHD4c.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
12g.6593505C>ACA383593305CHD4c.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
12g.6593505C>GCA383593309CHD4c.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
12g.6593505C>TCA383593307CHD4c.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
12g.6593506A>CCA478132920CHD4c.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
12g.6593506A>GCA478132921CHD4c.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
12g.6593506A>TCA478132922CHD4c.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
12g.6593507C>ACA383593312CHD4c.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
12g.6593507C>GCA383593314CHD4c.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
12g.6593507C>TCA383593316CHD4c.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
12g.6593508C>ACA383593318CHD4c.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
12g.6593508C>GCA383593321CHD4c.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
12g.6593508C>TCA383593324CHD4c.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
12g.6593509C>ACA478132927CHD4c.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
12g.6593509C>GCA478132929CHD4c.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
12g.6593509C>TCA478132931CHD4c.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
12g.6593510A>CCA383593329CHD4c.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
12g.6593510A>GCA383593333CHD4c.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
12g.6593510A>TCA383593337CHD4c.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
12g.6593511C>ACA383593348CHD4c.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
12g.6593511C>GCA383593358CHD4c.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
12g.6593511C>TCA383593360CHD4c.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
12g.6593512A=CA2014149573CHD4c.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=
12g.6593512A>CCA383593368CHD4c.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
12g.6593512A>GCA478132936CHD4c.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
12g.6593512A>TCA383593364CHD4c.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
12g.6593513T>ACA383593372CHD4c.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
12g.6593513T>CCA383593377CHD4c.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
12g.6593513T>GCA383593374CHD4c.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
12g.6593513T=CA2014149577CHD4c.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=
12g.6593514A>CCA383593380CHD4c.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
12g.6593514A>GCA383593385CHD4c.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
12g.6593514A>TCA383593382CHD4c.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
12g.6593515G>ACA478132941CHD4c.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
12g.6593515G>CCA6411968CHD4c.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
12g.6593515G=CA2014149578CHD4c.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=
12g.6593515G>TCA478132942CHD4c.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
12g.6593516G>ACA383593388CHD4c.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
12g.6593516G>CCA383593389CHD4c.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
12g.6593516G>TCA383593390CHD4c.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
12g.6593517T>ACA383593392CHD4c.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
12g.6593517T>CCA383593393CHD4c.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
12g.6593517T>GCA383593395CHD4c.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
12g.6593518T>ACA478132948CHD4c.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
12g.6593518T>CCA478132947CHD4c.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
12g.6593518T>GCA478132946CHD4c.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
12g.6593519A>CCA383593398CHD4c.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
12g.6593519A>GCA383593399CHD4c.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
12g.6593519A>TCA383593402CHD4c.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
12g.6593520C>ACA383593406CHD4c.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
12g.6593520C=CA2014149581CHD4c.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=
12g.6593520C>GCA383593408CHD4c.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
12g.6593520C>TCA383593410CHD4c.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
12g.6593521G>ACA6411969CHD4c.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
12g.6593521G>CCA478132950CHD4c.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
12g.6593521G=CA2014149584CHD4c.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=
12g.6593521G>TCA478132951CHD4c.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
12g.6593522A>CCA383593416CHD4c.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
12g.6593522A>GCA383593419CHD4c.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
12g.6593522A>TCA383593422CHD4c.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
12g.6593523C>ACA383593426CHD4c.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
12g.6593523C>GCA383593429CHD4c.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
12g.6593523C>TCA383593431CHD4c.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
12g.6593524A>CCA383593434CHD4c.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
12g.6593524A>GCA478132956CHD4c.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
12g.6593524A>TCA383593438CHD4c.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
12g.6593525T>ACA383593441CHD4c.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
12g.6593525T>CCA383593443CHD4c.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
12g.6593525T>GCA383593446CHD4c.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
12g.6593526A=CA2014149587CHD4c.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=
12g.6593526A>CCA383593454CHD4c.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
12g.6593526A>GCA6411970CHD4c.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
12g.6593526A>TCA383593450CHD4c.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
12g.6593527C>ACA383593459CHD4c.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
12g.6593527C>GCA383593462CHD4c.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
12g.6593527C>TCA383593465CHD4c.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
12g.6593528A>CCA383593468CHD4c.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
12g.6593528A>GCA383593469CHD4c.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
12g.6593528A>TCA383593470CHD4c.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
12g.6593529T>ACA383593473CHD4c.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
12g.6593529T>CCA383593475CHD4c.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
12g.6593529T>GCA383593477CHD4c.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
12g.6593529T=CA2014149590CHD4c.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=
12g.6593530G>ACA6411971CHD4c.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
12g.6593530G>CCA383593483CHD4c.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
12g.6593530G=CA2014149592CHD4c.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=
12g.6593530G>TCA383593486CHD4c.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
12g.6593531T>ACA383593495CHD4c.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
12g.6593531T>CCA383593492CHD4c.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
12g.6593531T>GCA383593489CHD4c.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
12g.6593532C>ACA383593498CHD4c.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
12g.6593532C>GCA383593501CHD4c.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
12g.6593532C>TCA383593503CHD4c.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
12g.6593533T>ACA478132961CHD4c.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
12g.6593533T>CCA478132962CHD4c.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
12g.6593533T>GCA6411972CHD4c.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
12g.6593533T=CA2014149595CHD4c.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=
12g.6593534G>ACA383593510CHD4c.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
12g.6593534G>CCA383593513CHD4c.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
12g.6593534G=CA2014149597CHD4c.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=
12g.6593534G>TCA383593515CHD4c.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
12g.6593535G>ACA232393026CHD4c.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
12g.6593535G>CCA383593522CHD4c.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
12g.6593535G=CA2014149600CHD4c.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=
12g.6593535G>TCA383593524CHD4c.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
12g.6593536A=CA2014149603CHD4c.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=
12g.6593536A>CCA478132967CHD4c.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
12g.6593536A>GCA478132968CHD4c.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
12g.6593536A>TCA478132969CHD4c.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
12g.6593537G>ACA383593528CHD4c.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
12g.6593537G>CCA383593534CHD4c.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
12g.6593537G>TCA383593539CHD4c.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
12g.6593538C>ACA383593548CHD4c.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
12g.6593538C>GCA383593542CHD4c.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
12g.6593538C>TCA383593540CHD4c.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
12g.6593540delCA2575058132CHD4c.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
12g.6593539C>ACA383593557CHD4c.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
12g.6593539C>GCA383593553CHD4c.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
12g.6593539C>TCA383593556CHD4c.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
12g.6593540C>ACA383593558CHD4c.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
12g.6593540C>GCA383593559CHD4c.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
12g.6593540C>TCA383593560CHD4c.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
12g.6593541A>CCA383593566CHD4c.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
12g.6593541A>GCA383593563CHD4c.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
12g.6593541A>TCA383593561CHD4c.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
12g.6593542C>ACA383593572CHD4c.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
12g.6593542C=CA2014149606CHD4c.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=
12g.6593542C>GCA383593574CHD4c.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
12g.6593542C>TCA383593575CHD4c.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
12g.6593543A>CCA383593576CHD4c.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
12g.6593543A>GCA383593577CHD4c.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
12g.6593543A>TCA383593580CHD4c.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

Number of alleles fetched