Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6593403T>CCA603485133CHD4c.2475+13A>G (n.2475+13A>G)
c.2514+13A>G (n.2514+13A>G)
c.2505+13A>G (n.2505+13A>G)
c.2440+13A>G
c.2454+13A>G (n.2454+13A>G)
c.2493+13A>G (n.2493+13A>G)
c.1231+13A>G
c.2481+13A>G (n.2481+13A>G)
c.372+13A>G (n.372+13A>G)
n.469+13A>G
n.2094+13A>G
c.1442+13A>G
c.515+13A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6593403T=CA2014149463CHD4c.2475+13A= (n.2475+13A=)
c.2514+13A= (n.2514+13A=)
c.2505+13A= (n.2505+13A=)
c.2440+13A=
c.2454+13A= (n.2454+13A=)
c.2493+13A= (n.2493+13A=)
c.1231+13A=
c.2481+13A= (n.2481+13A=)
c.372+13A= (n.372+13A=)
n.469+13A=
n.2094+13A=
c.1442+13A=
c.515+13A=
12g.6593405C>TCA2575058130CHD4c.2475+11G>A (n.2475+11G>A)
c.2514+11G>A (n.2514+11G>A)
c.2505+11G>A (n.2505+11G>A)
c.2440+11G>A
c.2454+11G>A (n.2454+11G>A)
c.2493+11G>A (n.2493+11G>A)
c.1231+11G>A
c.2481+11G>A (n.2481+11G>A)
c.372+11G>A (n.372+11G>A)
n.469+11G>A
n.2094+11G>A
c.1442+11G>A
c.515+11G>A
12g.6593406C>TCA2575058131CHD4c.2475+10G>A (n.2475+10G>A)
c.2514+10G>A (n.2514+10G>A)
c.2505+10G>A (n.2505+10G>A)
c.2440+10G>A
c.2454+10G>A (n.2454+10G>A)
c.2493+10G>A (n.2493+10G>A)
c.1231+10G>A
c.2481+10G>A (n.2481+10G>A)
c.372+10G>A (n.372+10G>A)
n.469+10G>A
n.2094+10G>A
c.1442+10G>A
c.515+10G>A
 gnomAD v4
12g.6593406_6593408delinsCCTCA2014149465CHD4c.2475+8_2475+10delinsAGG (n.2475+8_2475+10delinsAGG)
c.2514+8_2514+10delinsAGG (n.2514+8_2514+10delinsAGG)
c.2505+8_2505+10delinsAGG (n.2505+8_2505+10delinsAGG)
c.2440+8_2440+10delinsAGG
c.2454+8_2454+10delinsAGG (n.2454+8_2454+10delinsAGG)
c.2493+8_2493+10delinsAGG (n.2493+8_2493+10delinsAGG)
c.1231+8_1231+10delinsAGG
c.2481+8_2481+10delinsAGG (n.2481+8_2481+10delinsAGG)
c.372+8_372+10delinsAGG (n.372+8_372+10delinsAGG)
n.469+8_469+10delinsAGG
n.2094+8_2094+10delinsAGG
c.1442+8_1442+10delinsAGG
c.515+8_515+10delinsAGG
12g.6593407_6593408delCA6411956CHD4c.2475+8_2475+9del (n.2475+8_2475+9del)
c.2514+8_2514+9del (n.2514+8_2514+9del)
c.2505+8_2505+9del (n.2505+8_2505+9del)
c.2440+8_2440+9del
c.2454+8_2454+9del (n.2454+8_2454+9del)
c.2493+8_2493+9del (n.2493+8_2493+9del)
c.1231+8_1231+9del
c.2481+8_2481+9del (n.2481+8_2481+9del)
c.372+8_372+9del (n.372+8_372+9del)
n.469+8_469+9del
n.2094+8_2094+9del
c.1442+8_1442+9del
c.515+8_515+9del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6593408T>CCA2617296645CHD4c.2475+8A>G (n.2475+8A>G)
c.2514+8A>G (n.2514+8A>G)
c.2505+8A>G (n.2505+8A>G)
c.2440+8A>G
c.2454+8A>G (n.2454+8A>G)
c.2493+8A>G (n.2493+8A>G)
c.1231+8A>G
c.2481+8A>G (n.2481+8A>G)
c.372+8A>G (n.372+8A>G)
n.469+8A>G
n.2094+8A>G
c.1442+8A>G
c.515+8A>G
 dbSNP gnomAD v4
12g.6593408T>GCA915947873CHD4c.2475+8A>C (n.2475+8A>C)
c.2514+8A>C (n.2514+8A>C)
c.2505+8A>C (n.2505+8A>C)
c.2440+8A>C
c.2454+8A>C (n.2454+8A>C)
c.2493+8A>C (n.2493+8A>C)
c.1231+8A>C
c.2481+8A>C (n.2481+8A>C)
c.372+8A>C (n.372+8A>C)
n.469+8A>C
n.2094+8A>C
c.1442+8A>C
c.515+8A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6593408T=CA2014149470CHD4c.2475+8A= (n.2475+8A=)
c.2514+8A= (n.2514+8A=)
c.2505+8A= (n.2505+8A=)
c.2440+8A=
c.2454+8A= (n.2454+8A=)
c.2493+8A= (n.2493+8A=)
c.1231+8A=
c.2481+8A= (n.2481+8A=)
c.372+8A= (n.372+8A=)
n.469+8A=
n.2094+8A=
c.1442+8A=
c.515+8A=
12g.6593408_6593409delCA383592571CHD4c.2475+7_2475+8del (n.2475+7_2475+8del)
c.2514+7_2514+8del (n.2514+7_2514+8del)
c.2505+7_2505+8del (n.2505+7_2505+8del)
c.2440+7_2440+8del
c.2454+7_2454+8del (n.2454+7_2454+8del)
c.2493+7_2493+8del (n.2493+7_2493+8del)
c.1231+7_1231+8del
c.2481+7_2481+8del (n.2481+7_2481+8del)
c.372+7_372+8del (n.372+7_372+8del)
n.469+7_469+8del
n.2094+7_2094+8del
c.1442+7_1442+8del
c.515+7_515+8del
12g.6593409G>ACA2794422108CHD4c.2475+7C>T (n.2475+7C>T)
c.2514+7C>T (n.2514+7C>T)
c.2505+7C>T (n.2505+7C>T)
c.2440+7C>T
c.2454+7C>T (n.2454+7C>T)
c.2493+7C>T (n.2493+7C>T)
c.1231+7C>T
c.2481+7C>T (n.2481+7C>T)
c.372+7C>T (n.372+7C>T)
n.469+7C>T
n.2094+7C>T
c.1442+7C>T
c.515+7C>T
12g.6593412A>GCA2617296646CHD4c.2475+4T>C (n.2475+4T>C)
c.2514+4T>C (n.2514+4T>C)
c.2505+4T>C (n.2505+4T>C)
c.2440+4T>C
c.2454+4T>C (n.2454+4T>C)
c.2493+4T>C (n.2493+4T>C)
c.1231+4T>C
c.2481+4T>C (n.2481+4T>C)
c.372+4T>C (n.372+4T>C)
n.469+4T>C
n.2094+4T>C
c.1442+4T>C
c.515+4T>C
 gnomAD v4
12g.6593414A>CCA383592577CHD4c.2475+2T>G (n.2475+2T>G)
c.2514+2T>G (n.2514+2T>G)
c.2505+2T>G (n.2505+2T>G)
c.2440+2T>G
c.2454+2T>G (n.2454+2T>G)
c.2493+2T>G (n.2493+2T>G)
c.1231+2T>G
c.2481+2T>G (n.2481+2T>G)
c.372+2T>G (n.372+2T>G)
n.469+2T>G
n.2094+2T>G
c.1442+2T>G
c.515+2T>G
12g.6593414A>GCA383592579CHD4c.2475+2T>C (n.2475+2T>C)
c.2514+2T>C (n.2514+2T>C)
c.2505+2T>C (n.2505+2T>C)
c.2440+2T>C
c.2454+2T>C (n.2454+2T>C)
c.2493+2T>C (n.2493+2T>C)
c.1231+2T>C
c.2481+2T>C (n.2481+2T>C)
c.372+2T>C (n.372+2T>C)
n.469+2T>C
n.2094+2T>C
c.1442+2T>C
c.515+2T>C
 COSMIC COSMIC COSMIC
12g.6593414A>TCA383592584CHD4c.2475+2T>A (n.2475+2T>A)
c.2514+2T>A (n.2514+2T>A)
c.2505+2T>A (n.2505+2T>A)
c.2440+2T>A
c.2454+2T>A (n.2454+2T>A)
c.2493+2T>A (n.2493+2T>A)
c.1231+2T>A
c.2481+2T>A (n.2481+2T>A)
c.372+2T>A (n.372+2T>A)
n.469+2T>A
n.2094+2T>A
c.1442+2T>A
c.515+2T>A
12g.6593415C>ACA383592589CHD4c.2475+1G>T (n.2475+1G>T)
c.2514+1G>T (n.2514+1G>T)
c.2505+1G>T (n.2505+1G>T)
c.2440+1G>T
c.2454+1G>T (n.2454+1G>T)
c.2493+1G>T (n.2493+1G>T)
c.1231+1G>T
c.2481+1G>T (n.2481+1G>T)
c.372+1G>T (n.372+1G>T)
n.469+1G>T
n.2094+1G>T
c.1442+1G>T
c.515+1G>T
12g.6593415C>GCA383592600CHD4c.2475+1G>C (n.2475+1G>C)
c.2514+1G>C (n.2514+1G>C)
c.2505+1G>C (n.2505+1G>C)
c.2440+1G>C
c.2454+1G>C (n.2454+1G>C)
c.2493+1G>C (n.2493+1G>C)
c.1231+1G>C
c.2481+1G>C (n.2481+1G>C)
c.372+1G>C (n.372+1G>C)
n.469+1G>C
n.2094+1G>C
c.1442+1G>C
c.515+1G>C
12g.6593415C>TCA383592605CHD4c.2475+1G>A (n.2475+1G>A)
c.2514+1G>A (n.2514+1G>A)
c.2505+1G>A (n.2505+1G>A)
c.2440+1G>A
c.2454+1G>A (n.2454+1G>A)
c.2493+1G>A (n.2493+1G>A)
c.1231+1G>A
c.2481+1G>A (n.2481+1G>A)
c.372+1G>A (n.372+1G>A)
n.469+1G>A
n.2094+1G>A
c.1442+1G>A
c.515+1G>A
12g.6593416C>ACA383592611CHD4c.2475G>T (p.Lys825Asn)
c.2514G>T (p.Lys838Asn)
c.2505G>T (p.Lys835Asn)
c.2440G>T
c.2454G>T (p.Lys818Asn)
c.2493G>T (p.Lys831Asn)
c.1231G>T
c.2481G>T (p.Lys827Asn)
c.372G>T (p.Lys124Asn)
n.469G>T
n.2094G>T
c.1442G>T
c.515G>T
12g.6593416C>GCA383592608CHD4c.2475G>C (p.Lys825Asn)
c.2514G>C (p.Lys838Asn)
c.2505G>C (p.Lys835Asn)
c.2440G>C
c.2454G>C (p.Lys818Asn)
c.2493G>C (p.Lys831Asn)
c.1231G>C
c.2481G>C (p.Lys827Asn)
c.372G>C (p.Lys124Asn)
n.469G>C
n.2094G>C
c.1442G>C
c.515G>C
12g.6593416C>TCA478132539CHD4c.2475G>A (p.Lys825=)
c.2514G>A (p.Lys838=)
c.2505G>A (p.Lys835=)
c.2440G>A
c.2454G>A (p.Lys818=)
c.2493G>A (p.Lys831=)
c.1231G>A
c.2481G>A (p.Lys827=)
c.372G>A (p.Lys124=)
n.469G>A
n.2094G>A
c.1442G>A
c.515G>A
12g.6593417T>ACA383592613CHD4c.2474A>T (p.Lys825Met)
c.2513A>T (p.Lys838Met)
c.2504A>T (p.Lys835Met)
c.2439A>T
c.2453A>T (p.Lys818Met)
c.2492A>T (p.Lys831Met)
c.1230A>T
c.2480A>T (p.Lys827Met)
c.371A>T (p.Lys124Met)
n.468A>T
n.2093A>T
c.1441A>T
c.514A>T
12g.6593417T>CCA383592617CHD4c.2474A>G (p.Lys825Arg)
c.2513A>G (p.Lys838Arg)
c.2504A>G (p.Lys835Arg)
c.2439A>G
c.2453A>G (p.Lys818Arg)
c.2492A>G (p.Lys831Arg)
c.1230A>G
c.2480A>G (p.Lys827Arg)
c.371A>G (p.Lys124Arg)
n.468A>G
n.2093A>G
c.1441A>G
c.514A>G
12g.6593417T>GCA383592620CHD4c.2474A>C (p.Lys825Thr)
c.2513A>C (p.Lys838Thr)
c.2504A>C (p.Lys835Thr)
c.2439A>C
c.2453A>C (p.Lys818Thr)
c.2492A>C (p.Lys831Thr)
c.1230A>C
c.2480A>C (p.Lys827Thr)
c.371A>C (p.Lys124Thr)
n.468A>C
n.2093A>C
c.1441A>C
c.514A>C
12g.6593418T>ACA383592623CHD4c.2473A>T (p.Lys825Ter)
c.2512A>T (p.Lys838Ter)
c.2503A>T (p.Lys835Ter)
c.2438A>T
c.2452A>T (p.Lys818Ter)
c.2491A>T (p.Lys831Ter)
c.1229A>T
c.2479A>T (p.Lys827Ter)
c.370A>T (p.Lys124Ter)
n.467A>T
n.2092A>T
c.1440A>T
c.513A>T
12g.6593418T>CCA383592626CHD4c.2473A>G (p.Lys825Glu)
c.2512A>G (p.Lys838Glu)
c.2503A>G (p.Lys835Glu)
c.2438A>G
c.2452A>G (p.Lys818Glu)
c.2491A>G (p.Lys831Glu)
c.1229A>G
c.2479A>G (p.Lys827Glu)
c.370A>G (p.Lys124Glu)
n.467A>G
n.2092A>G
c.1440A>G
c.513A>G
12g.6593418T>GCA383592630CHD4c.2473A>C (p.Lys825Gln)
c.2512A>C (p.Lys838Gln)
c.2503A>C (p.Lys835Gln)
c.2438A>C
c.2452A>C (p.Lys818Gln)
c.2491A>C (p.Lys831Gln)
c.1229A>C
c.2479A>C (p.Lys827Gln)
c.370A>C (p.Lys124Gln)
n.467A>C
n.2092A>C
c.1440A>C
c.513A>C
12g.6593419C>ACA383592634CHD4c.2472G>T (p.Met824Ile)
c.2511G>T (p.Met837Ile)
c.2502G>T (p.Met834Ile)
c.2437G>T
c.2451G>T (p.Met817Ile)
c.2490G>T (p.Met830Ile)
c.1228G>T
c.2478G>T (p.Met826Ile)
c.369G>T (p.Met123Ile)
n.466G>T
n.2091G>T
c.1439G>T
c.512G>T
12g.6593419C>GCA383592638CHD4c.2472G>C (p.Met824Ile)
c.2511G>C (p.Met837Ile)
c.2502G>C (p.Met834Ile)
c.2437G>C
c.2451G>C (p.Met817Ile)
c.2490G>C (p.Met830Ile)
c.1228G>C
c.2478G>C (p.Met826Ile)
c.369G>C (p.Met123Ile)
n.466G>C
n.2091G>C
c.1439G>C
c.512G>C
12g.6593419C>TCA383592641CHD4c.2472G>A (p.Met824Ile)
c.2511G>A (p.Met837Ile)
c.2502G>A (p.Met834Ile)
c.2437G>A
c.2451G>A (p.Met817Ile)
c.2490G>A (p.Met830Ile)
c.1228G>A
c.2478G>A (p.Met826Ile)
c.369G>A (p.Met123Ile)
n.466G>A
n.2091G>A
c.1439G>A
c.512G>A
12g.6593420A>CCA383592645CHD4c.2471T>G (p.Met824Arg)
c.2510T>G (p.Met837Arg)
c.2501T>G (p.Met834Arg)
c.2436T>G
c.2450T>G (p.Met817Arg)
c.2489T>G (p.Met830Arg)
c.1227T>G
c.2477T>G (p.Met826Arg)
c.368T>G (p.Met123Arg)
n.465T>G
n.2090T>G
c.1438T>G
c.511T>G
12g.6593420A>GCA383592647CHD4c.2471T>C (p.Met824Thr)
c.2510T>C (p.Met837Thr)
c.2501T>C (p.Met834Thr)
c.2436T>C
c.2450T>C (p.Met817Thr)
c.2489T>C (p.Met830Thr)
c.1227T>C
c.2477T>C (p.Met826Thr)
c.368T>C (p.Met123Thr)
n.465T>C
n.2090T>C
c.1438T>C
c.511T>C
12g.6593420A>TCA383592660CHD4c.2471T>A (p.Met824Lys)
c.2510T>A (p.Met837Lys)
c.2501T>A (p.Met834Lys)
c.2436T>A
c.2450T>A (p.Met817Lys)
c.2489T>A (p.Met830Lys)
c.1227T>A
c.2477T>A (p.Met826Lys)
c.368T>A (p.Met123Lys)
n.465T>A
n.2090T>A
c.1438T>A
c.511T>A
12g.6593421T>ACA383592668CHD4c.2470A>T (p.Met824Leu)
c.2509A>T (p.Met837Leu)
c.2500A>T (p.Met834Leu)
c.2435A>T
c.2449A>T (p.Met817Leu)
c.2488A>T (p.Met830Leu)
c.1226A>T
c.2476A>T (p.Met826Leu)
c.367A>T (p.Met123Leu)
n.464A>T
n.2089A>T
c.1437A>T
c.510A>T
12g.6593421T>CCA383592670CHD4c.2470A>G (p.Met824Val)
c.2509A>G (p.Met837Val)
c.2500A>G (p.Met834Val)
c.2435A>G
c.2449A>G (p.Met817Val)
c.2488A>G (p.Met830Val)
c.1226A>G
c.2476A>G (p.Met826Val)
c.367A>G (p.Met123Val)
n.464A>G
n.2089A>G
c.1437A>G
c.510A>G
 gnomAD v4
12g.6593421T>GCA383592666CHD4c.2470A>C (p.Met824Leu)
c.2509A>C (p.Met837Leu)
c.2500A>C (p.Met834Leu)
c.2435A>C
c.2449A>C (p.Met817Leu)
c.2488A>C (p.Met830Leu)
c.1226A>C
c.2476A>C (p.Met826Leu)
c.367A>C (p.Met123Leu)
n.464A>C
n.2089A>C
c.1437A>C
c.510A>C
 dbSNP gnomAD v3 gnomAD v4
12g.6593421T=CA2014149478CHD4c.2470A= (p.Met824=)
c.2509A= (p.Met837=)
c.2500A= (p.Met834=)
c.2435A=
c.2449A= (p.Met817=)
c.2488A= (p.Met830=)
c.1226A=
c.2476A= (p.Met826=)
c.367A= (p.Met123=)
n.464A=
n.2089A=
c.1437A=
c.510A=
12g.6593422G>ACA478132560CHD4c.2469C>T (p.Arg823=)
c.2508C>T (p.Arg836=)
c.2499C>T (p.Arg833=)
c.2434C>T
c.2448C>T (p.Arg816=)
c.2487C>T (p.Arg829=)
c.1225C>T
c.2475C>T (p.Arg825=)
c.366C>T (p.Arg122=)
n.463C>T
n.2088C>T
c.1436C>T
c.509C>T
 dbSNP gnomAD v4
12g.6593422G>CCA478132561CHD4c.2469C>G (p.Arg823=)
c.2508C>G (p.Arg836=)
c.2499C>G (p.Arg833=)
c.2434C>G
c.2448C>G (p.Arg816=)
c.2487C>G (p.Arg829=)
c.1225C>G
c.2475C>G (p.Arg825=)
c.366C>G (p.Arg122=)
n.463C>G
n.2088C>G
c.1436C>G
c.509C>G
12g.6593422G=CA2014149482CHD4c.2469C= (p.Arg823=)
c.2508C= (p.Arg836=)
c.2499C= (p.Arg833=)
c.2434C=
c.2448C= (p.Arg816=)
c.2487C= (p.Arg829=)
c.1225C=
c.2475C= (p.Arg825=)
c.366C= (p.Arg122=)
n.463C=
n.2088C=
c.1436C=
c.509C=
12g.6593422G>TCA478132563CHD4c.2469C>A (p.Arg823=)
c.2508C>A (p.Arg836=)
c.2499C>A (p.Arg833=)
c.2434C>A
c.2448C>A (p.Arg816=)
c.2487C>A (p.Arg829=)
c.1225C>A
c.2475C>A (p.Arg825=)
c.366C>A (p.Arg122=)
n.463C>A
n.2088C>A
c.1436C>A
c.509C>A
12g.6593423C>ACA383592675CHD4c.2468G>T (p.Arg823Leu)
c.2507G>T (p.Arg836Leu)
c.2498G>T (p.Arg833Leu)
c.2433G>T
c.2447G>T (p.Arg816Leu)
c.2486G>T (p.Arg829Leu)
c.1224G>T
c.2474G>T (p.Arg825Leu)
c.365G>T (p.Arg122Leu)
n.462G>T
n.2087G>T
c.1435G>T
c.508G>T
 dbSNP
12g.6593423C=CA2014149486CHD4c.2468G= (p.Arg823=)
c.2507G= (p.Arg836=)
c.2498G= (p.Arg833=)
c.2433G=
c.2447G= (p.Arg816=)
c.2486G= (p.Arg829=)
c.1224G=
c.2474G= (p.Arg825=)
c.365G= (p.Arg122=)
n.462G=
n.2087G=
c.1435G=
c.508G=
12g.6593423C>GCA383592679CHD4c.2468G>C (p.Arg823Pro)
c.2507G>C (p.Arg836Pro)
c.2498G>C (p.Arg833Pro)
c.2433G>C
c.2447G>C (p.Arg816Pro)
c.2486G>C (p.Arg829Pro)
c.1224G>C
c.2474G>C (p.Arg825Pro)
c.365G>C (p.Arg122Pro)
n.462G>C
n.2087G>C
c.1435G>C
c.508G>C
12g.6593423C>TCA383592684CHD4c.2468G>A (p.Arg823His)
c.2507G>A (p.Arg836His)
c.2498G>A (p.Arg833His)
c.2433G>A
c.2447G>A (p.Arg816His)
c.2486G>A (p.Arg829His)
c.1224G>A
c.2474G>A (p.Arg825His)
c.365G>A (p.Arg122His)
n.462G>A
n.2087G>A
c.1435G>A
c.508G>A
 ClinVar dbSNP COSMIC COSMIC COSMIC
12g.6593424G>ACA232392976CHD4c.2467C>T (p.Arg823Cys)
c.2506C>T (p.Arg836Cys)
c.2497C>T (p.Arg833Cys)
c.2432C>T
c.2446C>T (p.Arg816Cys)
c.2485C>T (p.Arg829Cys)
c.1223C>T
c.2473C>T (p.Arg825Cys)
c.364C>T (p.Arg122Cys)
n.461C>T
n.2086C>T
c.1434C>T
c.507C>T
 ClinVar dbSNP gnomAD v4
12g.6593424G>CCA383592693CHD4c.2467C>G (p.Arg823Gly)
c.2506C>G (p.Arg836Gly)
c.2497C>G (p.Arg833Gly)
c.2432C>G
c.2446C>G (p.Arg816Gly)
c.2485C>G (p.Arg829Gly)
c.1223C>G
c.2473C>G (p.Arg825Gly)
c.364C>G (p.Arg122Gly)
n.461C>G
n.2086C>G
c.1434C>G
c.507C>G
12g.6593424G=CA2014149488CHD4c.2467C= (p.Arg823=)
c.2506C= (p.Arg836=)
c.2497C= (p.Arg833=)
c.2432C=
c.2446C= (p.Arg816=)
c.2485C= (p.Arg829=)
c.1223C=
c.2473C= (p.Arg825=)
c.364C= (p.Arg122=)
n.461C=
n.2086C=
c.1434C=
c.507C=
12g.6593424G>TCA383592697CHD4c.2467C>A (p.Arg823Ser)
c.2506C>A (p.Arg836Ser)
c.2497C>A (p.Arg833Ser)
c.2432C>A
c.2446C>A (p.Arg816Ser)
c.2485C>A (p.Arg829Ser)
c.1223C>A
c.2473C>A (p.Arg825Ser)
c.364C>A (p.Arg122Ser)
n.461C>A
n.2086C>A
c.1434C>A
c.507C>A
12g.6593425G>ACA478132571CHD4c.2466C>T (p.Ser822=)
c.2505C>T (p.Ser835=)
c.2496C>T (p.Ser832=)
c.2431C>T
c.2445C>T (p.Ser815=)
c.2484C>T (p.Ser828=)
c.1222C>T
c.2472C>T (p.Ser824=)
c.363C>T (p.Ser121=)
n.460C>T
n.2085C>T
c.1433C>T
c.506C>T
 dbSNP
12g.6593425G>CCA478132574CHD4c.2466C>G (p.Ser822=)
c.2505C>G (p.Ser835=)
c.2496C>G (p.Ser832=)
c.2431C>G
c.2445C>G (p.Ser815=)
c.2484C>G (p.Ser828=)
c.1222C>G
c.2472C>G (p.Ser824=)
c.363C>G (p.Ser121=)
n.460C>G
n.2085C>G
c.1433C>G
c.506C>G
12g.6593425G=CA2014149491CHD4c.2466C= (p.Ser822=)
c.2505C= (p.Ser835=)
c.2496C= (p.Ser832=)
c.2431C=
c.2445C= (p.Ser815=)
c.2484C= (p.Ser828=)
c.1222C=
c.2472C= (p.Ser824=)
c.363C= (p.Ser121=)
n.460C=
n.2085C=
c.1433C=
c.506C=
12g.6593425G>TCA478132576CHD4c.2466C>A (p.Ser822=)
c.2505C>A (p.Ser835=)
c.2496C>A (p.Ser832=)
c.2431C>A
c.2445C>A (p.Ser815=)
c.2484C>A (p.Ser828=)
c.1222C>A
c.2472C>A (p.Ser824=)
c.363C>A (p.Ser121=)
n.460C>A
n.2085C>A
c.1433C>A
c.506C>A
 COSMIC COSMIC COSMIC
12g.6593426G>ACA383592702CHD4c.2465C>T (p.Ser822Phe)
c.2504C>T (p.Ser835Phe)
c.2495C>T (p.Ser832Phe)
c.2430C>T
c.2444C>T (p.Ser815Phe)
c.2483C>T (p.Ser828Phe)
c.1221C>T
c.2471C>T (p.Ser824Phe)
c.362C>T (p.Ser121Phe)
n.459C>T
n.2084C>T
c.1432C>T
c.505C>T
 gnomAD v4
12g.6593426G>CCA383592712CHD4c.2465C>G (p.Ser822Cys)
c.2504C>G (p.Ser835Cys)
c.2495C>G (p.Ser832Cys)
c.2430C>G
c.2444C>G (p.Ser815Cys)
c.2483C>G (p.Ser828Cys)
c.1221C>G
c.2471C>G (p.Ser824Cys)
c.362C>G (p.Ser121Cys)
n.459C>G
n.2084C>G
c.1432C>G
c.505C>G
12g.6593426G>TCA383592709CHD4c.2465C>A (p.Ser822Tyr)
c.2504C>A (p.Ser835Tyr)
c.2495C>A (p.Ser832Tyr)
c.2430C>A
c.2444C>A (p.Ser815Tyr)
c.2483C>A (p.Ser828Tyr)
c.1221C>A
c.2471C>A (p.Ser824Tyr)
c.362C>A (p.Ser121Tyr)
n.459C>A
n.2084C>A
c.1432C>A
c.505C>A
12g.6593427A>CCA383592714CHD4c.2464T>G (p.Ser822Ala)
c.2503T>G (p.Ser835Ala)
c.2494T>G (p.Ser832Ala)
c.2429T>G
c.2443T>G (p.Ser815Ala)
c.2482T>G (p.Ser828Ala)
c.1220T>G
c.2470T>G (p.Ser824Ala)
c.361T>G (p.Ser121Ala)
n.458T>G
n.2083T>G
c.1431T>G
c.504T>G
 gnomAD v4
12g.6593427A>GCA383592715CHD4c.2464T>C (p.Ser822Pro)
c.2503T>C (p.Ser835Pro)
c.2494T>C (p.Ser832Pro)
c.2429T>C
c.2443T>C (p.Ser815Pro)
c.2482T>C (p.Ser828Pro)
c.1220T>C
c.2470T>C (p.Ser824Pro)
c.361T>C (p.Ser121Pro)
n.458T>C
n.2083T>C
c.1431T>C
c.504T>C
12g.6593427A>TCA383592718CHD4c.2464T>A (p.Ser822Thr)
c.2503T>A (p.Ser835Thr)
c.2494T>A (p.Ser832Thr)
c.2429T>A
c.2443T>A (p.Ser815Thr)
c.2482T>A (p.Ser828Thr)
c.1220T>A
c.2470T>A (p.Ser824Thr)
c.361T>A (p.Ser121Thr)
n.458T>A
n.2083T>A
c.1431T>A
c.504T>A
12g.6593428G>ACA478132585CHD4c.2463C>T (p.Ala821=)
c.2502C>T (p.Ala834=)
c.2493C>T (p.Ala831=)
c.2428C>T
c.2442C>T (p.Ala814=)
c.2481C>T (p.Ala827=)
c.1219C>T
c.2469C>T (p.Ala823=)
c.360C>T (p.Ala120=)
n.457C>T
n.2082C>T
c.1430C>T
c.503C>T
 dbSNP
12g.6593428G>CCA478132588CHD4c.2463C>G (p.Ala821=)
c.2502C>G (p.Ala834=)
c.2493C>G (p.Ala831=)
c.2428C>G
c.2442C>G (p.Ala814=)
c.2481C>G (p.Ala827=)
c.1219C>G
c.2469C>G (p.Ala823=)
c.360C>G (p.Ala120=)
n.457C>G
n.2082C>G
c.1430C>G
c.503C>G
12g.6593428G=CA2014149494CHD4c.2463C= (p.Ala821=)
c.2502C= (p.Ala834=)
c.2493C= (p.Ala831=)
c.2428C=
c.2442C= (p.Ala814=)
c.2481C= (p.Ala827=)
c.1219C=
c.2469C= (p.Ala823=)
c.360C= (p.Ala120=)
n.457C=
n.2082C=
c.1430C=
c.503C=
12g.6593428G>TCA6411957CHD4c.2463C>A (p.Ala821=)
c.2502C>A (p.Ala834=)
c.2493C>A (p.Ala831=)
c.2428C>A
c.2442C>A (p.Ala814=)
c.2481C>A (p.Ala827=)
c.1219C>A
c.2469C>A (p.Ala823=)
c.360C>A (p.Ala120=)
n.457C>A
n.2082C>A
c.1430C>A
c.503C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593429G>ACA383592722CHD4c.2462C>T (p.Ala821Val)
c.2501C>T (p.Ala834Val)
c.2492C>T (p.Ala831Val)
c.2427C>T
c.2441C>T (p.Ala814Val)
c.2480C>T (p.Ala827Val)
c.1218C>T
c.2468C>T (p.Ala823Val)
c.359C>T (p.Ala120Val)
n.456C>T
n.2081C>T
c.1429C>T
c.502C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6593429G>CCA383592728CHD4c.2462C>G (p.Ala821Gly)
c.2501C>G (p.Ala834Gly)
c.2492C>G (p.Ala831Gly)
c.2427C>G
c.2441C>G (p.Ala814Gly)
c.2480C>G (p.Ala827Gly)
c.1218C>G
c.2468C>G (p.Ala823Gly)
c.359C>G (p.Ala120Gly)
n.456C>G
n.2081C>G
c.1429C>G
c.502C>G
12g.6593429G=CA2014149496CHD4c.2462C= (p.Ala821=)
c.2501C= (p.Ala834=)
c.2492C= (p.Ala831=)
c.2427C=
c.2441C= (p.Ala814=)
c.2480C= (p.Ala827=)
c.1218C=
c.2468C= (p.Ala823=)
c.359C= (p.Ala120=)
n.456C=
n.2081C=
c.1429C=
c.502C=
12g.6593429G>TCA383592724CHD4c.2462C>A (p.Ala821Asp)
c.2501C>A (p.Ala834Asp)
c.2492C>A (p.Ala831Asp)
c.2427C>A
c.2441C>A (p.Ala814Asp)
c.2480C>A (p.Ala827Asp)
c.1218C>A
c.2468C>A (p.Ala823Asp)
c.359C>A (p.Ala120Asp)
n.456C>A
n.2081C>A
c.1429C>A
c.502C>A
12g.6593430C>ACA383592732CHD4c.2461G>T (p.Ala821Ser)
c.2500G>T (p.Ala834Ser)
c.2491G>T (p.Ala831Ser)
c.2426G>T
c.2440G>T (p.Ala814Ser)
c.2479G>T (p.Ala827Ser)
c.1217G>T
c.2467G>T (p.Ala823Ser)
c.358G>T (p.Ala120Ser)
n.455G>T
n.2080G>T
c.1428G>T
c.501G>T
12g.6593430C>GCA383592736CHD4c.2461G>C (p.Ala821Pro)
c.2500G>C (p.Ala834Pro)
c.2491G>C (p.Ala831Pro)
c.2426G>C
c.2440G>C (p.Ala814Pro)
c.2479G>C (p.Ala827Pro)
c.1217G>C
c.2467G>C (p.Ala823Pro)
c.358G>C (p.Ala120Pro)
n.455G>C
n.2080G>C
c.1428G>C
c.501G>C
12g.6593430C>TCA383592740CHD4c.2461G>A (p.Ala821Thr)
c.2500G>A (p.Ala834Thr)
c.2491G>A (p.Ala831Thr)
c.2426G>A
c.2440G>A (p.Ala814Thr)
c.2479G>A (p.Ala827Thr)
c.1217G>A
c.2467G>A (p.Ala823Thr)
c.358G>A (p.Ala120Thr)
n.455G>A
n.2080G>A
c.1428G>A
c.501G>A
12g.6593431C>ACA383592747CHD4c.2460G>T (p.Lys820Asn)
c.2499G>T (p.Lys833Asn)
c.2490G>T (p.Lys830Asn)
c.2425G>T
c.2439G>T (p.Lys813Asn)
c.2478G>T (p.Lys826Asn)
c.1216G>T
c.2466G>T (p.Lys822Asn)
c.357G>T (p.Lys119Asn)
n.454G>T
n.2079G>T
c.1427G>T
c.500G>T
12g.6593431C=CA2014149500CHD4c.2460G= (p.Lys820=)
c.2499G= (p.Lys833=)
c.2490G= (p.Lys830=)
c.2425G=
c.2439G= (p.Lys813=)
c.2478G= (p.Lys826=)
c.1216G=
c.2466G= (p.Lys822=)
c.357G= (p.Lys119=)
n.454G=
n.2079G=
c.1427G=
c.500G=
12g.6593431C>GCA383592750CHD4c.2460G>C (p.Lys820Asn)
c.2499G>C (p.Lys833Asn)
c.2490G>C (p.Lys830Asn)
c.2425G>C
c.2439G>C (p.Lys813Asn)
c.2478G>C (p.Lys826Asn)
c.1216G>C
c.2466G>C (p.Lys822Asn)
c.357G>C (p.Lys119Asn)
n.454G>C
n.2079G>C
c.1427G>C
c.500G>C
12g.6593431C>TCA6411958CHD4c.2460G>A (p.Lys820=)
c.2499G>A (p.Lys833=)
c.2490G>A (p.Lys830=)
c.2425G>A
c.2439G>A (p.Lys813=)
c.2478G>A (p.Lys826=)
c.1216G>A
c.2466G>A (p.Lys822=)
c.357G>A (p.Lys119=)
n.454G>A
n.2079G>A
c.1427G>A
c.500G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6593432T>ACA383592755CHD4c.2459A>T (p.Lys820Met)
c.2498A>T (p.Lys833Met)
c.2489A>T (p.Lys830Met)
c.2424A>T
c.2438A>T (p.Lys813Met)
c.2477A>T (p.Lys826Met)
c.1215A>T
c.2465A>T (p.Lys822Met)
c.356A>T (p.Lys119Met)
n.453A>T
n.2078A>T
c.1426A>T
c.499A>T
12g.6593432T>CCA383592759CHD4c.2459A>G (p.Lys820Arg)
c.2498A>G (p.Lys833Arg)
c.2489A>G (p.Lys830Arg)
c.2424A>G
c.2438A>G (p.Lys813Arg)
c.2477A>G (p.Lys826Arg)
c.1215A>G
c.2465A>G (p.Lys822Arg)
c.356A>G (p.Lys119Arg)
n.453A>G
n.2078A>G
c.1426A>G
c.499A>G
12g.6593432T>GCA383592763CHD4c.2459A>C (p.Lys820Thr)
c.2498A>C (p.Lys833Thr)
c.2489A>C (p.Lys830Thr)
c.2424A>C
c.2438A>C (p.Lys813Thr)
c.2477A>C (p.Lys826Thr)
c.1215A>C
c.2465A>C (p.Lys822Thr)
c.356A>C (p.Lys119Thr)
n.453A>C
n.2078A>C
c.1426A>C
c.499A>C
12g.6593433T>ACA383592770CHD4c.2458A>T (p.Lys820Ter)
c.2497A>T (p.Lys833Ter)
c.2488A>T (p.Lys830Ter)
c.2423A>T
c.2437A>T (p.Lys813Ter)
c.2476A>T (p.Lys826Ter)
c.1214A>T
c.2464A>T (p.Lys822Ter)
c.355A>T (p.Lys119Ter)
n.452A>T
n.2077A>T
c.1425A>T
c.498A>T
12g.6593433T>CCA383592773CHD4c.2458A>G (p.Lys820Glu)
c.2497A>G (p.Lys833Glu)
c.2488A>G (p.Lys830Glu)
c.2423A>G
c.2437A>G (p.Lys813Glu)
c.2476A>G (p.Lys826Glu)
c.1214A>G
c.2464A>G (p.Lys822Glu)
c.355A>G (p.Lys119Glu)
n.452A>G
n.2077A>G
c.1425A>G
c.498A>G
12g.6593433T>GCA383592776CHD4c.2458A>C (p.Lys820Gln)
c.2497A>C (p.Lys833Gln)
c.2488A>C (p.Lys830Gln)
c.2423A>C
c.2437A>C (p.Lys813Gln)
c.2476A>C (p.Lys826Gln)
c.1214A>C
c.2464A>C (p.Lys822Gln)
c.355A>C (p.Lys119Gln)
n.452A>C
n.2077A>C
c.1425A>C
c.498A>C
12g.6593434C>ACA383592784CHD4c.2457G>T (p.Lys819Asn)
c.2496G>T (p.Lys832Asn)
c.2487G>T (p.Lys829Asn)
c.2422G>T
c.2436G>T (p.Lys812Asn)
c.2475G>T (p.Lys825Asn)
c.1213G>T
c.2463G>T (p.Lys821Asn)
c.354G>T (p.Lys118Asn)
n.451G>T
n.2076G>T
c.1424G>T
c.497G>T
12g.6593434C=CA2014149504CHD4c.2457G= (p.Lys819=)
c.2496G= (p.Lys832=)
c.2487G= (p.Lys829=)
c.2422G=
c.2436G= (p.Lys812=)
c.2475G= (p.Lys825=)
c.1213G=
c.2463G= (p.Lys821=)
c.354G= (p.Lys118=)
n.451G=
n.2076G=
c.1424G=
c.497G=
12g.6593434C>GCA383592779CHD4c.2457G>C (p.Lys819Asn)
c.2496G>C (p.Lys832Asn)
c.2487G>C (p.Lys829Asn)
c.2422G>C
c.2436G>C (p.Lys812Asn)
c.2475G>C (p.Lys825Asn)
c.1213G>C
c.2463G>C (p.Lys821Asn)
c.354G>C (p.Lys118Asn)
n.451G>C
n.2076G>C
c.1424G>C
c.497G>C
12g.6593434C>TCA478132617CHD4c.2457G>A (p.Lys819=)
c.2496G>A (p.Lys832=)
c.2487G>A (p.Lys829=)
c.2422G>A
c.2436G>A (p.Lys812=)
c.2475G>A (p.Lys825=)
c.1213G>A
c.2463G>A (p.Lys821=)
c.354G>A (p.Lys118=)
n.451G>A
n.2076G>A
c.1424G>A
c.497G>A
 dbSNP
12g.6593435T>ACA383592788CHD4c.2456A>T (p.Lys819Met)
c.2495A>T (p.Lys832Met)
c.2486A>T (p.Lys829Met)
c.2421A>T
c.2435A>T (p.Lys812Met)
c.2474A>T (p.Lys825Met)
c.1212A>T
c.2462A>T (p.Lys821Met)
c.353A>T (p.Lys118Met)
n.450A>T
n.2075A>T
c.1423A>T
c.496A>T
12g.6593435T>CCA232392981CHD4c.2456A>G (p.Lys819Arg)
c.2495A>G (p.Lys832Arg)
c.2486A>G (p.Lys829Arg)
c.2421A>G
c.2435A>G (p.Lys812Arg)
c.2474A>G (p.Lys825Arg)
c.1212A>G
c.2462A>G (p.Lys821Arg)
c.353A>G (p.Lys118Arg)
n.450A>G
n.2075A>G
c.1423A>G
c.496A>G
 dbSNP
12g.6593435T>GCA383592791CHD4c.2456A>C (p.Lys819Thr)
c.2495A>C (p.Lys832Thr)
c.2486A>C (p.Lys829Thr)
c.2421A>C
c.2435A>C (p.Lys812Thr)
c.2474A>C (p.Lys825Thr)
c.1212A>C
c.2462A>C (p.Lys821Thr)
c.353A>C (p.Lys118Thr)
n.450A>C
n.2075A>C
c.1423A>C
c.496A>C
12g.6593435T=CA2014149508CHD4c.2456A= (p.Lys819=)
c.2495A= (p.Lys832=)
c.2486A= (p.Lys829=)
c.2421A=
c.2435A= (p.Lys812=)
c.2474A= (p.Lys825=)
c.1212A=
c.2462A= (p.Lys821=)
c.353A= (p.Lys118=)
n.450A=
n.2075A=
c.1423A=
c.496A=
12g.6593436T>ACA383592795CHD4c.2455A>T (p.Lys819Ter)
c.2494A>T (p.Lys832Ter)
c.2485A>T (p.Lys829Ter)
c.2420A>T
c.2434A>T (p.Lys812Ter)
c.2473A>T (p.Lys825Ter)
c.1211A>T
c.2461A>T (p.Lys821Ter)
c.352A>T (p.Lys118Ter)
n.449A>T
n.2074A>T
c.1422A>T
c.495A>T
12g.6593436T>CCA383592796CHD4c.2455A>G (p.Lys819Glu)
c.2494A>G (p.Lys832Glu)
c.2485A>G (p.Lys829Glu)
c.2420A>G
c.2434A>G (p.Lys812Glu)
c.2473A>G (p.Lys825Glu)
c.1211A>G
c.2461A>G (p.Lys821Glu)
c.352A>G (p.Lys118Glu)
n.449A>G
n.2074A>G
c.1422A>G
c.495A>G
12g.6593436T>GCA383592802CHD4c.2455A>C (p.Lys819Gln)
c.2494A>C (p.Lys832Gln)
c.2485A>C (p.Lys829Gln)
c.2420A>C
c.2434A>C (p.Lys812Gln)
c.2473A>C (p.Lys825Gln)
c.1211A>C
c.2461A>C (p.Lys821Gln)
c.352A>C (p.Lys118Gln)
n.449A>C
n.2074A>C
c.1422A>C
c.495A>C
12g.6593437G>ACA478132623CHD4c.2454C>T (p.Gly818=)
c.2493C>T (p.Gly831=)
c.2484C>T (p.Gly828=)
c.2419C>T
c.2433C>T (p.Gly811=)
c.2472C>T (p.Gly824=)
c.1210C>T
c.2460C>T (p.Gly820=)
c.351C>T (p.Gly117=)
n.448C>T
n.2073C>T
c.1421C>T
c.494C>T
12g.6593437G>CCA478132624CHD4c.2454C>G (p.Gly818=)
c.2493C>G (p.Gly831=)
c.2484C>G (p.Gly828=)
c.2419C>G
c.2433C>G (p.Gly811=)
c.2472C>G (p.Gly824=)
c.1210C>G
c.2460C>G (p.Gly820=)
c.351C>G (p.Gly117=)
n.448C>G
n.2073C>G
c.1421C>G
c.494C>G
12g.6593437G>TCA478132626CHD4c.2454C>A (p.Gly818=)
c.2493C>A (p.Gly831=)
c.2484C>A (p.Gly828=)
c.2419C>A
c.2433C>A (p.Gly811=)
c.2472C>A (p.Gly824=)
c.1210C>A
c.2460C>A (p.Gly820=)
c.351C>A (p.Gly117=)
n.448C>A
n.2073C>A
c.1421C>A
c.494C>A
 gnomAD v4
12g.6593438C>ACA383592805CHD4c.2453G>T (p.Gly818Val)
c.2492G>T (p.Gly831Val)
c.2483G>T (p.Gly828Val)
c.2418G>T
c.2432G>T (p.Gly811Val)
c.2471G>T (p.Gly824Val)
c.1209G>T
c.2459G>T (p.Gly820Val)
c.350G>T (p.Gly117Val)
n.447G>T
n.2072G>T
c.1420G>T
c.493G>T
12g.6593438C>GCA383592809CHD4c.2453G>C (p.Gly818Ala)
c.2492G>C (p.Gly831Ala)
c.2483G>C (p.Gly828Ala)
c.2418G>C
c.2432G>C (p.Gly811Ala)
c.2471G>C (p.Gly824Ala)
c.1209G>C
c.2459G>C (p.Gly820Ala)
c.350G>C (p.Gly117Ala)
n.447G>C
n.2072G>C
c.1420G>C
c.493G>C
12g.6593438C>TCA383592811CHD4c.2453G>A (p.Gly818Asp)
c.2492G>A (p.Gly831Asp)
c.2483G>A (p.Gly828Asp)
c.2418G>A
c.2432G>A (p.Gly811Asp)
c.2471G>A (p.Gly824Asp)
c.1209G>A
c.2459G>A (p.Gly820Asp)
c.350G>A (p.Gly117Asp)
n.447G>A
n.2072G>A
c.1420G>A
c.493G>A
 dbSNP
12g.6593439C>ACA383592816CHD4c.2452G>T (p.Gly818Cys)
c.2491G>T (p.Gly831Cys)
c.2482G>T (p.Gly828Cys)
c.2417G>T
c.2431G>T (p.Gly811Cys)
c.2470G>T (p.Gly824Cys)
c.1208G>T
c.2458G>T (p.Gly820Cys)
c.349G>T (p.Gly117Cys)
n.446G>T
n.2071G>T
c.1419G>T
c.492G>T
12g.6593439C>GCA383592820CHD4c.2452G>C (p.Gly818Arg)
c.2491G>C (p.Gly831Arg)
c.2482G>C (p.Gly828Arg)
c.2417G>C
c.2431G>C (p.Gly811Arg)
c.2470G>C (p.Gly824Arg)
c.1208G>C
c.2458G>C (p.Gly820Arg)
c.349G>C (p.Gly117Arg)
n.446G>C
n.2071G>C
c.1419G>C
c.492G>C
12g.6593439C>TCA383592828CHD4c.2452G>A (p.Gly818Ser)
c.2491G>A (p.Gly831Ser)
c.2482G>A (p.Gly828Ser)
c.2417G>A
c.2431G>A (p.Gly811Ser)
c.2470G>A (p.Gly824Ser)
c.1208G>A
c.2458G>A (p.Gly820Ser)
c.349G>A (p.Gly117Ser)
n.446G>A
n.2071G>A
c.1419G>A
c.492G>A
12g.6593440A=CA2014149510CHD4c.2451T= (p.Gly817=)
c.2490T= (p.Gly830=)
c.2481T= (p.Gly827=)
c.2416T=
c.2430T= (p.Gly810=)
c.2469T= (p.Gly823=)
c.1207T=
c.2457T= (p.Gly819=)
c.348T= (p.Gly116=)
n.445T=
n.2070T=
c.1418T=
c.491T=
12g.6593440A>CCA478132635CHD4c.2451T>G (p.Gly817=)
c.2490T>G (p.Gly830=)
c.2481T>G (p.Gly827=)
c.2416T>G
c.2430T>G (p.Gly810=)
c.2469T>G (p.Gly823=)
c.1207T>G
c.2457T>G (p.Gly819=)
c.348T>G (p.Gly116=)
n.445T>G
n.2070T>G
c.1418T>G
c.491T>G
 dbSNP
12g.6593440A>GCA478132637CHD4c.2451T>C (p.Gly817=)
c.2490T>C (p.Gly830=)
c.2481T>C (p.Gly827=)
c.2416T>C
c.2430T>C (p.Gly810=)
c.2469T>C (p.Gly823=)
c.1207T>C
c.2457T>C (p.Gly819=)
c.348T>C (p.Gly116=)
n.445T>C
n.2070T>C
c.1418T>C
c.491T>C
12g.6593440A>TCA478132638CHD4c.2451T>A (p.Gly817=)
c.2490T>A (p.Gly830=)
c.2481T>A (p.Gly827=)
c.2416T>A
c.2430T>A (p.Gly810=)
c.2469T>A (p.Gly823=)
c.1207T>A
c.2457T>A (p.Gly819=)
c.348T>A (p.Gly116=)
n.445T>A
n.2070T>A
c.1418T>A
c.491T>A
12g.6593441C>ACA383592833CHD4c.2450G>T (p.Gly817Val)
c.2489G>T (p.Gly830Val)
c.2480G>T (p.Gly827Val)
c.2415G>T
c.2429G>T (p.Gly810Val)
c.2468G>T (p.Gly823Val)
c.1206G>T
c.2456G>T (p.Gly819Val)
c.347G>T (p.Gly116Val)
n.444G>T
n.2069G>T
c.1417G>T
c.490G>T
12g.6593441C>GCA383592835CHD4c.2450G>C (p.Gly817Ala)
c.2489G>C (p.Gly830Ala)
c.2480G>C (p.Gly827Ala)
c.2415G>C
c.2429G>C (p.Gly810Ala)
c.2468G>C (p.Gly823Ala)
c.1206G>C
c.2456G>C (p.Gly819Ala)
c.347G>C (p.Gly116Ala)
n.444G>C
n.2069G>C
c.1417G>C
c.490G>C
12g.6593441C>TCA383592844CHD4c.2450G>A (p.Gly817Asp)
c.2489G>A (p.Gly830Asp)
c.2480G>A (p.Gly827Asp)
c.2415G>A
c.2429G>A (p.Gly810Asp)
c.2468G>A (p.Gly823Asp)
c.1206G>A
c.2456G>A (p.Gly819Asp)
c.347G>A (p.Gly116Asp)
n.444G>A
n.2069G>A
c.1417G>A
c.490G>A
 gnomAD v4
12g.6593442C>ACA383592848CHD4c.2449G>T (p.Gly817Cys)
c.2488G>T (p.Gly830Cys)
c.2479G>T (p.Gly827Cys)
c.2414G>T
c.2428G>T (p.Gly810Cys)
c.2467G>T (p.Gly823Cys)
c.1205G>T
c.2455G>T (p.Gly819Cys)
c.346G>T (p.Gly116Cys)
n.443G>T
n.2068G>T
c.1416G>T
c.489G>T
12g.6593442C>GCA383592855CHD4c.2449G>C (p.Gly817Arg)
c.2488G>C (p.Gly830Arg)
c.2479G>C (p.Gly827Arg)
c.2414G>C
c.2428G>C (p.Gly810Arg)
c.2467G>C (p.Gly823Arg)
c.1205G>C
c.2455G>C (p.Gly819Arg)
c.346G>C (p.Gly116Arg)
n.443G>C
n.2068G>C
c.1416G>C
c.489G>C
12g.6593442C>TCA383592853CHD4c.2449G>A (p.Gly817Ser)
c.2488G>A (p.Gly830Ser)
c.2479G>A (p.Gly827Ser)
c.2414G>A
c.2428G>A (p.Gly810Ser)
c.2467G>A (p.Gly823Ser)
c.1205G>A
c.2455G>A (p.Gly819Ser)
c.346G>A (p.Gly116Ser)
n.443G>A
n.2068G>A
c.1416G>A
c.489G>A
 dbSNP
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

Number of alleles fetched