Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6592444A=CA2014148515CHD4c.2858T= (p.Met953=)
n.123T=
c.2897T= (p.Met966=)
c.2888T= (p.Met963=)
c.2823T=
c.2837T= (p.Met946=)
c.2876T= (p.Met959=)
c.1614T=
c.2864T= (p.Met955=)
c.755T= (p.Met252=)
n.852T=
n.2477T=
c.1825T=
c.898T=
n.22T=
n.164T=
12g.6592444A>CCA383587759CHD4c.2858T>G (p.Met953Arg)
n.123T>G
c.2897T>G (p.Met966Arg)
c.2888T>G (p.Met963Arg)
c.2823T>G
c.2837T>G (p.Met946Arg)
c.2876T>G (p.Met959Arg)
c.1614T>G
c.2864T>G (p.Met955Arg)
c.755T>G (p.Met252Arg)
n.852T>G
n.2477T>G
c.1825T>G
c.898T>G
n.22T>G
n.164T>G
12g.6592444A>GCA383587766CHD4c.2858T>C (p.Met953Thr)
n.123T>C
c.2897T>C (p.Met966Thr)
c.2888T>C (p.Met963Thr)
c.2823T>C
c.2837T>C (p.Met946Thr)
c.2876T>C (p.Met959Thr)
c.1614T>C
c.2864T>C (p.Met955Thr)
c.755T>C (p.Met252Thr)
n.852T>C
n.2477T>C
c.1825T>C
c.898T>C
n.22T>C
n.164T>C
12g.6592444A>TCA16606376CHD4c.2858T>A (p.Met953Lys)
n.123T>A
c.2897T>A (p.Met966Lys)
c.2888T>A (p.Met963Lys)
c.2823T>A
c.2837T>A (p.Met946Lys)
c.2876T>A (p.Met959Lys)
c.1614T>A
c.2864T>A (p.Met955Lys)
c.755T>A (p.Met252Lys)
n.852T>A
n.2477T>A
c.1825T>A
c.898T>A
n.22T>A
n.164T>A
 ClinVar dbSNP
12g.6592445T>ACA383587775CHD4c.2857A>T (p.Met953Leu)
n.122A>T
c.2896A>T (p.Met966Leu)
c.2887A>T (p.Met963Leu)
c.2822A>T
c.2836A>T (p.Met946Leu)
c.2875A>T (p.Met959Leu)
c.1613A>T
c.2863A>T (p.Met955Leu)
c.754A>T (p.Met252Leu)
n.851A>T
n.2476A>T
c.1824A>T
c.897A>T
n.21A>T
n.163A>T
12g.6592445T>CCA383587770CHD4c.2857A>G (p.Met953Val)
n.122A>G
c.2896A>G (p.Met966Val)
c.2887A>G (p.Met963Val)
c.2822A>G
c.2836A>G (p.Met946Val)
c.2875A>G (p.Met959Val)
c.1613A>G
c.2863A>G (p.Met955Val)
c.754A>G (p.Met252Val)
n.851A>G
n.2476A>G
c.1824A>G
c.897A>G
n.21A>G
n.163A>G
12g.6592445T>GCA383587772CHD4c.2857A>C (p.Met953Leu)
n.122A>C
c.2896A>C (p.Met966Leu)
c.2887A>C (p.Met963Leu)
c.2822A>C
c.2836A>C (p.Met946Leu)
c.2875A>C (p.Met959Leu)
c.1613A>C
c.2863A>C (p.Met955Leu)
c.754A>C (p.Met252Leu)
n.851A>C
n.2476A>C
c.1824A>C
c.897A>C
n.21A>C
n.163A>C
12g.6592446G>ACA478511189CHD4c.2856C>T (p.Asn952=)
n.121C>T
c.2895C>T (p.Asn965=)
c.2886C>T (p.Asn962=)
c.2821C>T
c.2835C>T (p.Asn945=)
c.2874C>T (p.Asn958=)
c.1612C>T
c.2862C>T (p.Asn954=)
c.753C>T (p.Asn251=)
n.850C>T
n.2475C>T
c.1823C>T
c.896C>T
n.20C>T
n.162C>T
12g.6592446G>CCA383587777CHD4c.2856C>G (p.Asn952Lys)
n.121C>G
c.2895C>G (p.Asn965Lys)
c.2886C>G (p.Asn962Lys)
c.2821C>G
c.2835C>G (p.Asn945Lys)
c.2874C>G (p.Asn958Lys)
c.1612C>G
c.2862C>G (p.Asn954Lys)
c.753C>G (p.Asn251Lys)
n.850C>G
n.2475C>G
c.1823C>G
c.896C>G
n.20C>G
n.162C>G
12g.6592446G>TCA383587779CHD4c.2856C>A (p.Asn952Lys)
n.121C>A
c.2895C>A (p.Asn965Lys)
c.2886C>A (p.Asn962Lys)
c.2821C>A
c.2835C>A (p.Asn945Lys)
c.2874C>A (p.Asn958Lys)
c.1612C>A
c.2862C>A (p.Asn954Lys)
c.753C>A (p.Asn251Lys)
n.850C>A
n.2475C>A
c.1823C>A
c.896C>A
n.20C>A
n.162C>A
12g.6592447T>ACA383587781CHD4c.2855A>T (p.Asn952Ile)
n.120A>T
c.2894A>T (p.Asn965Ile)
c.2885A>T (p.Asn962Ile)
c.2820A>T
c.2834A>T (p.Asn945Ile)
c.2873A>T (p.Asn958Ile)
c.1611A>T
c.2861A>T (p.Asn954Ile)
c.752A>T (p.Asn251Ile)
n.849A>T
n.2474A>T
c.1822A>T
c.895A>T
n.19A>T
n.161A>T
12g.6592447T>CCA383587784CHD4c.2855A>G (p.Asn952Ser)
n.120A>G
c.2894A>G (p.Asn965Ser)
c.2885A>G (p.Asn962Ser)
c.2820A>G
c.2834A>G (p.Asn945Ser)
c.2873A>G (p.Asn958Ser)
c.1611A>G
c.2861A>G (p.Asn954Ser)
c.752A>G (p.Asn251Ser)
n.849A>G
n.2474A>G
c.1822A>G
c.895A>G
n.19A>G
n.161A>G
12g.6592447T>GCA383587786CHD4c.2855A>C (p.Asn952Thr)
n.120A>C
c.2894A>C (p.Asn965Thr)
c.2885A>C (p.Asn962Thr)
c.2820A>C
c.2834A>C (p.Asn945Thr)
c.2873A>C (p.Asn958Thr)
c.1611A>C
c.2861A>C (p.Asn954Thr)
c.752A>C (p.Asn251Thr)
n.849A>C
n.2474A>C
c.1822A>C
c.895A>C
n.19A>C
n.161A>C
12g.6592448T>ACA383587790CHD4c.2854A>T (p.Asn952Tyr)
n.119A>T
c.2893A>T (p.Asn965Tyr)
c.2884A>T (p.Asn962Tyr)
c.2819A>T
c.2833A>T (p.Asn945Tyr)
c.2872A>T (p.Asn958Tyr)
c.1610A>T
c.2860A>T (p.Asn954Tyr)
c.751A>T (p.Asn251Tyr)
n.848A>T
n.2473A>T
c.1821A>T
c.894A>T
n.18A>T
n.160A>T
12g.6592448T>CCA383587794CHD4c.2854A>G (p.Asn952Asp)
n.119A>G
c.2893A>G (p.Asn965Asp)
c.2884A>G (p.Asn962Asp)
c.2819A>G
c.2833A>G (p.Asn945Asp)
c.2872A>G (p.Asn958Asp)
c.1610A>G
c.2860A>G (p.Asn954Asp)
c.751A>G (p.Asn251Asp)
n.848A>G
n.2473A>G
c.1821A>G
c.894A>G
n.18A>G
n.160A>G
12g.6592448T>GCA383587804CHD4c.2854A>C (p.Asn952His)
n.119A>C
c.2893A>C (p.Asn965His)
c.2884A>C (p.Asn962His)
c.2819A>C
c.2833A>C (p.Asn945His)
c.2872A>C (p.Asn958His)
c.1610A>C
c.2860A>C (p.Asn954His)
c.751A>C (p.Asn251His)
n.848A>C
n.2473A>C
c.1821A>C
c.894A>C
n.18A>C
n.160A>C
12g.6592449C>ACA383587805CHD4c.2853G>T (p.Lys951Asn)
n.118G>T
c.2892G>T (p.Lys964Asn)
c.2883G>T (p.Lys961Asn)
c.2818G>T
c.2832G>T (p.Lys944Asn)
c.2871G>T (p.Lys957Asn)
c.1609G>T
c.2859G>T (p.Lys953Asn)
c.750G>T (p.Lys250Asn)
n.847G>T
n.2472G>T
c.1820G>T
c.893G>T
n.17G>T
n.159G>T
 ClinVar dbSNP
12g.6592449C>GCA383587806CHD4c.2853G>C (p.Lys951Asn)
n.118G>C
c.2892G>C (p.Lys964Asn)
c.2883G>C (p.Lys961Asn)
c.2818G>C
c.2832G>C (p.Lys944Asn)
c.2871G>C (p.Lys957Asn)
c.1609G>C
c.2859G>C (p.Lys953Asn)
c.750G>C (p.Lys250Asn)
n.847G>C
n.2472G>C
c.1820G>C
c.893G>C
n.17G>C
n.159G>C
 gnomAD v4
12g.6592449C>TCA478511190CHD4c.2853G>A (p.Lys951=)
n.118G>A
c.2892G>A (p.Lys964=)
c.2883G>A (p.Lys961=)
c.2818G>A
c.2832G>A (p.Lys944=)
c.2871G>A (p.Lys957=)
c.1609G>A
c.2859G>A (p.Lys953=)
c.750G>A (p.Lys250=)
n.847G>A
n.2472G>A
c.1820G>A
c.893G>A
n.17G>A
n.159G>A
12g.6592450T>ACA383587809CHD4c.2852A>T (p.Lys951Met)
n.117A>T
c.2891A>T (p.Lys964Met)
c.2882A>T (p.Lys961Met)
c.2817A>T
c.2831A>T (p.Lys944Met)
c.2870A>T (p.Lys957Met)
c.1608A>T
c.2858A>T (p.Lys953Met)
c.749A>T (p.Lys250Met)
n.846A>T
n.2471A>T
c.1819A>T
c.892A>T
n.16A>T
n.158A>T
12g.6592450T>CCA383587810CHD4c.2852A>G (p.Lys951Arg)
n.117A>G
c.2891A>G (p.Lys964Arg)
c.2882A>G (p.Lys961Arg)
c.2817A>G
c.2831A>G (p.Lys944Arg)
c.2870A>G (p.Lys957Arg)
c.1608A>G
c.2858A>G (p.Lys953Arg)
c.749A>G (p.Lys250Arg)
n.846A>G
n.2471A>G
c.1819A>G
c.892A>G
n.16A>G
n.158A>G
12g.6592450T>GCA383587812CHD4c.2852A>C (p.Lys951Thr)
n.117A>C
c.2891A>C (p.Lys964Thr)
c.2882A>C (p.Lys961Thr)
c.2817A>C
c.2831A>C (p.Lys944Thr)
c.2870A>C (p.Lys957Thr)
c.1608A>C
c.2858A>C (p.Lys953Thr)
c.749A>C (p.Lys250Thr)
n.846A>C
n.2471A>C
c.1819A>C
c.892A>C
n.16A>C
n.158A>C
12g.6592451T>ACA383587814CHD4c.2851A>T (p.Lys951Ter)
n.116A>T
c.2890A>T (p.Lys964Ter)
c.2881A>T (p.Lys961Ter)
c.2816A>T
c.2830A>T (p.Lys944Ter)
c.2869A>T (p.Lys957Ter)
c.1607A>T
c.2857A>T (p.Lys953Ter)
c.748A>T (p.Lys250Ter)
n.845A>T
n.2470A>T
c.1818A>T
c.891A>T
n.15A>T
n.157A>T
12g.6592451T>CCA383587818CHD4c.2851A>G (p.Lys951Glu)
n.116A>G
c.2890A>G (p.Lys964Glu)
c.2881A>G (p.Lys961Glu)
c.2816A>G
c.2830A>G (p.Lys944Glu)
c.2869A>G (p.Lys957Glu)
c.1607A>G
c.2857A>G (p.Lys953Glu)
c.748A>G (p.Lys250Glu)
n.845A>G
n.2470A>G
c.1818A>G
c.891A>G
n.15A>G
n.157A>G
12g.6592451T>GCA383587816CHD4c.2851A>C (p.Lys951Gln)
n.116A>C
c.2890A>C (p.Lys964Gln)
c.2881A>C (p.Lys961Gln)
c.2816A>C
c.2830A>C (p.Lys944Gln)
c.2869A>C (p.Lys957Gln)
c.1607A>C
c.2857A>C (p.Lys953Gln)
c.748A>C (p.Lys250Gln)
n.845A>C
n.2470A>C
c.1818A>C
c.891A>C
n.15A>C
n.157A>C
12g.6592452G>ACA478511191CHD4c.2850C>T (p.Phe950=)
n.115C>T
c.2889C>T (p.Phe963=)
c.2880C>T (p.Phe960=)
c.2815C>T
c.2829C>T (p.Phe943=)
c.2868C>T (p.Phe956=)
c.1606C>T
c.2856C>T (p.Phe952=)
c.747C>T (p.Phe249=)
n.844C>T
n.2469C>T
c.1817C>T
c.890C>T
n.14C>T
n.156C>T
 gnomAD v4
12g.6592452G>CCA383587821CHD4c.2850C>G (p.Phe950Leu)
n.115C>G
c.2889C>G (p.Phe963Leu)
c.2880C>G (p.Phe960Leu)
c.2815C>G
c.2829C>G (p.Phe943Leu)
c.2868C>G (p.Phe956Leu)
c.1606C>G
c.2856C>G (p.Phe952Leu)
c.747C>G (p.Phe249Leu)
n.844C>G
n.2469C>G
c.1817C>G
c.890C>G
n.14C>G
n.156C>G
12g.6592452G>TCA383587824CHD4c.2850C>A (p.Phe950Leu)
n.115C>A
c.2889C>A (p.Phe963Leu)
c.2880C>A (p.Phe960Leu)
c.2815C>A
c.2829C>A (p.Phe943Leu)
c.2868C>A (p.Phe956Leu)
c.1606C>A
c.2856C>A (p.Phe952Leu)
c.747C>A (p.Phe249Leu)
n.844C>A
n.2469C>A
c.1817C>A
c.890C>A
n.14C>A
n.156C>A
12g.6592453A>CCA383587826CHD4c.2849T>G (p.Phe950Cys)
n.114T>G
c.2888T>G (p.Phe963Cys)
c.2879T>G (p.Phe960Cys)
c.2814T>G
c.2828T>G (p.Phe943Cys)
c.2867T>G (p.Phe956Cys)
c.1605T>G
c.2855T>G (p.Phe952Cys)
c.746T>G (p.Phe249Cys)
n.843T>G
n.2468T>G
c.1816T>G
c.889T>G
n.13T>G
n.155T>G
12g.6592453A>GCA383587828CHD4c.2849T>C (p.Phe950Ser)
n.114T>C
c.2888T>C (p.Phe963Ser)
c.2879T>C (p.Phe960Ser)
c.2814T>C
c.2828T>C (p.Phe943Ser)
c.2867T>C (p.Phe956Ser)
c.1605T>C
c.2855T>C (p.Phe952Ser)
c.746T>C (p.Phe249Ser)
n.843T>C
n.2468T>C
c.1816T>C
c.889T>C
n.13T>C
n.155T>C
12g.6592453A>TCA383587830CHD4c.2849T>A (p.Phe950Tyr)
n.114T>A
c.2888T>A (p.Phe963Tyr)
c.2879T>A (p.Phe960Tyr)
c.2814T>A
c.2828T>A (p.Phe943Tyr)
c.2867T>A (p.Phe956Tyr)
c.1605T>A
c.2855T>A (p.Phe952Tyr)
c.746T>A (p.Phe249Tyr)
n.843T>A
n.2468T>A
c.1816T>A
c.889T>A
n.13T>A
n.155T>A
12g.6592454A>CCA383587837CHD4c.2848T>G (p.Phe950Val)
n.113T>G
c.2887T>G (p.Phe963Val)
c.2878T>G (p.Phe960Val)
c.2813T>G
c.2827T>G (p.Phe943Val)
c.2866T>G (p.Phe956Val)
c.1604T>G
c.2854T>G (p.Phe952Val)
c.745T>G (p.Phe249Val)
n.842T>G
n.2467T>G
c.1815T>G
c.888T>G
n.12T>G
n.154T>G
12g.6592454A>GCA383587834CHD4c.2848T>C (p.Phe950Leu)
n.113T>C
c.2887T>C (p.Phe963Leu)
c.2878T>C (p.Phe960Leu)
c.2813T>C
c.2827T>C (p.Phe943Leu)
c.2866T>C (p.Phe956Leu)
c.1604T>C
c.2854T>C (p.Phe952Leu)
c.745T>C (p.Phe249Leu)
n.842T>C
n.2467T>C
c.1815T>C
c.888T>C
n.12T>C
n.154T>C
12g.6592454A>TCA383587833CHD4c.2848T>A (p.Phe950Ile)
n.113T>A
c.2887T>A (p.Phe963Ile)
c.2878T>A (p.Phe960Ile)
c.2813T>A
c.2827T>A (p.Phe943Ile)
c.2866T>A (p.Phe956Ile)
c.1604T>A
c.2854T>A (p.Phe952Ile)
c.745T>A (p.Phe249Ile)
n.842T>A
n.2467T>A
c.1815T>A
c.888T>A
n.12T>A
n.154T>A
12g.6592455C>ACA478511192CHD4c.2847G>T (p.Val949=)
n.112G>T
c.2886G>T (p.Val962=)
c.2877G>T (p.Val959=)
c.2812G>T
c.2826G>T (p.Val942=)
c.2865G>T (p.Val955=)
c.1603G>T
c.2853G>T (p.Val951=)
c.744G>T (p.Val248=)
n.841G>T
n.2466G>T
c.1814G>T
c.887G>T
n.11G>T
n.153G>T
12g.6592455C=CA2014148520CHD4c.2847G= (p.Val949=)
n.112G=
c.2886G= (p.Val962=)
c.2877G= (p.Val959=)
c.2812G=
c.2826G= (p.Val942=)
c.2865G= (p.Val955=)
c.1603G=
c.2853G= (p.Val951=)
c.744G= (p.Val248=)
n.841G=
n.2466G=
c.1814G=
c.887G=
n.11G=
n.153G=
12g.6592455C>GCA478511193CHD4c.2847G>C (p.Val949=)
n.112G>C
c.2886G>C (p.Val962=)
c.2877G>C (p.Val959=)
c.2812G>C
c.2826G>C (p.Val942=)
c.2865G>C (p.Val955=)
c.1603G>C
c.2853G>C (p.Val951=)
c.744G>C (p.Val248=)
n.841G>C
n.2466G>C
c.1814G>C
c.887G>C
n.11G>C
n.153G>C
12g.6592455C>TCA478511194CHD4c.2847G>A (p.Val949=)
n.112G>A
c.2886G>A (p.Val962=)
c.2877G>A (p.Val959=)
c.2812G>A
c.2826G>A (p.Val942=)
c.2865G>A (p.Val955=)
c.1603G>A
c.2853G>A (p.Val951=)
c.744G>A (p.Val248=)
n.841G>A
n.2466G>A
c.1814G>A
c.887G>A
n.11G>A
n.153G>A
 dbSNP gnomAD v2 gnomAD v4
12g.6592455_6592456insGTAGAAGGGCGTCTTCTTGAAGCATGAAGAGGGTGTATTGTGTTCGAAGGGAGCGAAATTCCTTGACATTAAGCA2522675251CHD4c.2846_2847insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe950LeufsTer?)
n.111_112insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
c.2885_2886insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe963LeufsTer?)
c.2876_2877insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe960LeufsTer?)
c.2811_2812insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
c.2825_2826insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe943LeufsTer?)
c.2864_2865insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe956LeufsTer?)
c.1602_1603insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
c.2852_2853insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe952LeufsTer?)
c.743_744insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe249LeufsTer?)
n.840_841insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
n.2465_2466insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
c.1813_1814insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
c.886_887insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
n.10_11insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
n.152_153insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC
12g.6592456A>CCA383587840CHD4c.2846T>G (p.Val949Gly)
n.111T>G
c.2885T>G (p.Val962Gly)
c.2876T>G (p.Val959Gly)
c.2811T>G
c.2825T>G (p.Val942Gly)
c.2864T>G (p.Val955Gly)
c.1602T>G
c.2852T>G (p.Val951Gly)
c.743T>G (p.Val248Gly)
n.840T>G
n.2465T>G
c.1813T>G
c.886T>G
n.10T>G
n.152T>G
12g.6592456A>GCA383587843CHD4c.2846T>C (p.Val949Ala)
n.111T>C
c.2885T>C (p.Val962Ala)
c.2876T>C (p.Val959Ala)
c.2811T>C
c.2825T>C (p.Val942Ala)
c.2864T>C (p.Val955Ala)
c.1602T>C
c.2852T>C (p.Val951Ala)
c.743T>C (p.Val248Ala)
n.840T>C
n.2465T>C
c.1813T>C
c.886T>C
n.10T>C
n.152T>C
12g.6592456A>TCA383587844CHD4c.2846T>A (p.Val949Glu)
n.111T>A
c.2885T>A (p.Val962Glu)
c.2876T>A (p.Val959Glu)
c.2811T>A
c.2825T>A (p.Val942Glu)
c.2864T>A (p.Val955Glu)
c.1602T>A
c.2852T>A (p.Val951Glu)
c.743T>A (p.Val248Glu)
n.840T>A
n.2465T>A
c.1813T>A
c.886T>A
n.10T>A
n.152T>A
12g.6592457C>ACA383587850CHD4c.2845G>T (p.Val949Leu)
n.110G>T
c.2884G>T (p.Val962Leu)
c.2875G>T (p.Val959Leu)
c.2810G>T
c.2824G>T (p.Val942Leu)
c.2863G>T (p.Val955Leu)
c.1601G>T
c.2851G>T (p.Val951Leu)
c.742G>T (p.Val248Leu)
n.839G>T
n.2464G>T
c.1812G>T
c.885G>T
n.9G>T
n.151G>T
 COSMIC COSMIC COSMIC
12g.6592457C>GCA383587852CHD4c.2845G>C (p.Val949Leu)
n.110G>C
c.2884G>C (p.Val962Leu)
c.2875G>C (p.Val959Leu)
c.2810G>C
c.2824G>C (p.Val942Leu)
c.2863G>C (p.Val955Leu)
c.1601G>C
c.2851G>C (p.Val951Leu)
c.742G>C (p.Val248Leu)
n.839G>C
n.2464G>C
c.1812G>C
c.885G>C
n.9G>C
n.151G>C
12g.6592457C>TCA383587854CHD4c.2845G>A (p.Val949Met)
n.110G>A
c.2884G>A (p.Val962Met)
c.2875G>A (p.Val959Met)
c.2810G>A
c.2824G>A (p.Val942Met)
c.2863G>A (p.Val955Met)
c.1601G>A
c.2851G>A (p.Val951Met)
c.742G>A (p.Val248Met)
n.839G>A
n.2464G>A
c.1812G>A
c.885G>A
n.9G>A
n.151G>A
12g.6592458A=CA2014148525CHD4c.2844T= (p.Asp948=)
n.109T=
c.2883T= (p.Asp961=)
c.2874T= (p.Asp958=)
c.2809T=
c.2823T= (p.Asp941=)
c.2862T= (p.Asp954=)
c.1600T=
c.2850T= (p.Asp950=)
c.741T= (p.Asp247=)
n.838T=
n.2463T=
c.1811T=
c.884T=
n.8T=
n.150T=
12g.6592458A>CCA383587859CHD4c.2844T>G (p.Asp948Glu)
n.109T>G
c.2883T>G (p.Asp961Glu)
c.2874T>G (p.Asp958Glu)
c.2809T>G
c.2823T>G (p.Asp941Glu)
c.2862T>G (p.Asp954Glu)
c.1600T>G
c.2850T>G (p.Asp950Glu)
c.741T>G (p.Asp247Glu)
n.838T>G
n.2463T>G
c.1811T>G
c.884T>G
n.8T>G
n.150T>G
12g.6592458A>GCA6411884CHD4c.2844T>C (p.Asp948=)
n.109T>C
c.2883T>C (p.Asp961=)
c.2874T>C (p.Asp958=)
c.2809T>C
c.2823T>C (p.Asp941=)
c.2862T>C (p.Asp954=)
c.1600T>C
c.2850T>C (p.Asp950=)
c.741T>C (p.Asp247=)
n.838T>C
n.2463T>C
c.1811T>C
c.884T>C
n.8T>C
n.150T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592458A>TCA383587867CHD4c.2844T>A (p.Asp948Glu)
n.109T>A
c.2883T>A (p.Asp961Glu)
c.2874T>A (p.Asp958Glu)
c.2809T>A
c.2823T>A (p.Asp941Glu)
c.2862T>A (p.Asp954Glu)
c.1600T>A
c.2850T>A (p.Asp950Glu)
c.741T>A (p.Asp247Glu)
n.838T>A
n.2463T>A
c.1811T>A
c.884T>A
n.8T>A
n.150T>A
12g.6592459T>ACA383587876CHD4c.2843A>T (p.Asp948Val)
n.108A>T
c.2882A>T (p.Asp961Val)
c.2873A>T (p.Asp958Val)
c.2808A>T
c.2822A>T (p.Asp941Val)
c.2861A>T (p.Asp954Val)
c.1599A>T
c.2849A>T (p.Asp950Val)
c.740A>T (p.Asp247Val)
n.837A>T
n.2462A>T
c.1810A>T
c.883A>T
n.7A>T
n.149A>T
12g.6592459T>CCA383587883CHD4c.2843A>G (p.Asp948Gly)
n.108A>G
c.2882A>G (p.Asp961Gly)
c.2873A>G (p.Asp958Gly)
c.2808A>G
c.2822A>G (p.Asp941Gly)
c.2861A>G (p.Asp954Gly)
c.1599A>G
c.2849A>G (p.Asp950Gly)
c.740A>G (p.Asp247Gly)
n.837A>G
n.2462A>G
c.1810A>G
c.883A>G
n.7A>G
n.149A>G
12g.6592459T>GCA383587885CHD4c.2843A>C (p.Asp948Ala)
n.108A>C
c.2882A>C (p.Asp961Ala)
c.2873A>C (p.Asp958Ala)
c.2808A>C
c.2822A>C (p.Asp941Ala)
c.2861A>C (p.Asp954Ala)
c.1599A>C
c.2849A>C (p.Asp950Ala)
c.740A>C (p.Asp247Ala)
n.837A>C
n.2462A>C
c.1810A>C
c.883A>C
n.7A>C
n.149A>C
12g.6592460C>ACA383587889CHD4c.2842G>T (p.Asp948Tyr)
n.107G>T
c.2881G>T (p.Asp961Tyr)
c.2872G>T (p.Asp958Tyr)
c.2807G>T
c.2821G>T (p.Asp941Tyr)
c.2860G>T (p.Asp954Tyr)
c.1598G>T
c.2848G>T (p.Asp950Tyr)
c.739G>T (p.Asp247Tyr)
n.836G>T
n.2461G>T
c.1809G>T
c.882G>T
n.6G>T
n.148G>T
12g.6592460C>GCA383587896CHD4c.2842G>C (p.Asp948His)
n.107G>C
c.2881G>C (p.Asp961His)
c.2872G>C (p.Asp958His)
c.2807G>C
c.2821G>C (p.Asp941His)
c.2860G>C (p.Asp954His)
c.1598G>C
c.2848G>C (p.Asp950His)
c.739G>C (p.Asp247His)
n.836G>C
n.2461G>C
c.1809G>C
c.882G>C
n.6G>C
n.148G>C
12g.6592460C>TCA383587899CHD4c.2842G>A (p.Asp948Asn)
n.107G>A
c.2881G>A (p.Asp961Asn)
c.2872G>A (p.Asp958Asn)
c.2807G>A
c.2821G>A (p.Asp941Asn)
c.2860G>A (p.Asp954Asn)
c.1598G>A
c.2848G>A (p.Asp950Asn)
c.739G>A (p.Asp247Asn)
n.836G>A
n.2461G>A
c.1809G>A
c.882G>A
n.6G>A
n.148G>A
 COSMIC COSMIC COSMIC
12g.6592461G>ACA6411885CHD4c.2841C>T (p.Ala947=)
n.106C>T
c.2880C>T (p.Ala960=)
c.2871C>T (p.Ala957=)
c.2806C>T
c.2820C>T (p.Ala940=)
c.2859C>T (p.Ala953=)
c.1597C>T
c.2847C>T (p.Ala949=)
c.738C>T (p.Ala246=)
n.835C>T
n.2460C>T
c.1808C>T
c.881C>T
n.5C>T
n.147C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592461G>CCA478511195CHD4c.2841C>G (p.Ala947=)
n.106C>G
c.2880C>G (p.Ala960=)
c.2871C>G (p.Ala957=)
c.2806C>G
c.2820C>G (p.Ala940=)
c.2859C>G (p.Ala953=)
c.1597C>G
c.2847C>G (p.Ala949=)
c.738C>G (p.Ala246=)
n.835C>G
n.2460C>G
c.1808C>G
c.881C>G
n.5C>G
n.147C>G
12g.6592461G=CA2014148527CHD4c.2841C= (p.Ala947=)
n.106C=
c.2880C= (p.Ala960=)
c.2871C= (p.Ala957=)
c.2806C=
c.2820C= (p.Ala940=)
c.2859C= (p.Ala953=)
c.1597C=
c.2847C= (p.Ala949=)
c.738C= (p.Ala246=)
n.835C=
n.2460C=
c.1808C=
c.881C=
n.5C=
n.147C=
12g.6592461G>TCA478511196CHD4c.2841C>A (p.Ala947=)
n.106C>A
c.2880C>A (p.Ala960=)
c.2871C>A (p.Ala957=)
c.2806C>A
c.2820C>A (p.Ala940=)
c.2859C>A (p.Ala953=)
c.1597C>A
c.2847C>A (p.Ala949=)
c.738C>A (p.Ala246=)
n.835C>A
n.2460C>A
c.1808C>A
c.881C>A
n.5C>A
n.147C>A
12g.6592462G>ACA383587904CHD4c.2840C>T (p.Ala947Val)
n.105C>T
c.2879C>T (p.Ala960Val)
c.2870C>T (p.Ala957Val)
c.2805C>T
c.2819C>T (p.Ala940Val)
c.2858C>T (p.Ala953Val)
c.1596C>T
c.2846C>T (p.Ala949Val)
c.737C>T (p.Ala246Val)
n.834C>T
n.2459C>T
c.1807C>T
c.880C>T
n.4C>T
n.146C>T
 COSMIC COSMIC COSMIC
12g.6592462G>CCA383587906CHD4c.2840C>G (p.Ala947Gly)
n.105C>G
c.2879C>G (p.Ala960Gly)
c.2870C>G (p.Ala957Gly)
c.2805C>G
c.2819C>G (p.Ala940Gly)
c.2858C>G (p.Ala953Gly)
c.1596C>G
c.2846C>G (p.Ala949Gly)
c.737C>G (p.Ala246Gly)
n.834C>G
n.2459C>G
c.1807C>G
c.880C>G
n.4C>G
n.146C>G
12g.6592462G>TCA383587909CHD4c.2840C>A (p.Ala947Asp)
n.105C>A
c.2879C>A (p.Ala960Asp)
c.2870C>A (p.Ala957Asp)
c.2805C>A
c.2819C>A (p.Ala940Asp)
c.2858C>A (p.Ala953Asp)
c.1596C>A
c.2846C>A (p.Ala949Asp)
c.737C>A (p.Ala246Asp)
n.834C>A
n.2459C>A
c.1807C>A
c.880C>A
n.4C>A
n.146C>A
12g.6592463C>ACA383587914CHD4c.2839G>T (p.Ala947Ser)
n.104G>T
c.2878G>T (p.Ala960Ser)
c.2869G>T (p.Ala957Ser)
c.2804G>T
c.2818G>T (p.Ala940Ser)
c.2857G>T (p.Ala953Ser)
c.1595G>T
c.2845G>T (p.Ala949Ser)
c.736G>T (p.Ala246Ser)
n.833G>T
n.2458G>T
c.1806G>T
c.879G>T
n.3G>T
n.145G>T
12g.6592463C=CA2014148531CHD4c.2839G= (p.Ala947=)
n.104G=
c.2878G= (p.Ala960=)
c.2869G= (p.Ala957=)
c.2804G=
c.2818G= (p.Ala940=)
c.2857G= (p.Ala953=)
c.1595G=
c.2845G= (p.Ala949=)
c.736G= (p.Ala246=)
n.833G=
n.2458G=
c.1806G=
c.879G=
n.3G=
n.145G=
12g.6592463C>GCA383587920CHD4c.2839G>C (p.Ala947Pro)
n.104G>C
c.2878G>C (p.Ala960Pro)
c.2869G>C (p.Ala957Pro)
c.2804G>C
c.2818G>C (p.Ala940Pro)
c.2857G>C (p.Ala953Pro)
c.1595G>C
c.2845G>C (p.Ala949Pro)
c.736G>C (p.Ala246Pro)
n.833G>C
n.2458G>C
c.1806G>C
c.879G>C
n.3G>C
n.145G>C
12g.6592463C>TCA6411886CHD4c.2839G>A (p.Ala947Thr)
n.104G>A
c.2878G>A (p.Ala960Thr)
c.2869G>A (p.Ala957Thr)
c.2804G>A
c.2818G>A (p.Ala940Thr)
c.2857G>A (p.Ala953Thr)
c.1595G>A
c.2845G>A (p.Ala949Thr)
c.736G>A (p.Ala246Thr)
n.833G>A
n.2458G>A
c.1806G>A
c.879G>A
n.3G>A
n.145G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592464T>ACA383587923CHD4c.2838A>T (p.Lys946Asn)
n.103A>T
c.2877A>T (p.Lys959Asn)
c.2868A>T (p.Lys956Asn)
c.2803A>T
c.2817A>T (p.Lys939Asn)
c.2856A>T (p.Lys952Asn)
c.1594A>T
c.2844A>T (p.Lys948Asn)
c.735A>T (p.Lys245Asn)
n.832A>T
n.2457A>T
c.1805A>T
c.878A>T
n.2A>T
n.144A>T
12g.6592464T>CCA478511197CHD4c.2838A>G (p.Lys946=)
n.103A>G
c.2877A>G (p.Lys959=)
c.2868A>G (p.Lys956=)
c.2803A>G
c.2817A>G (p.Lys939=)
c.2856A>G (p.Lys952=)
c.1594A>G
c.2844A>G (p.Lys948=)
c.735A>G (p.Lys245=)
n.832A>G
n.2457A>G
c.1805A>G
c.878A>G
n.2A>G
n.144A>G
12g.6592464T>GCA383587937CHD4c.2838A>C (p.Lys946Asn)
n.103A>C
c.2877A>C (p.Lys959Asn)
c.2868A>C (p.Lys956Asn)
c.2803A>C
c.2817A>C (p.Lys939Asn)
c.2856A>C (p.Lys952Asn)
c.1594A>C
c.2844A>C (p.Lys948Asn)
c.735A>C (p.Lys245Asn)
n.832A>C
n.2457A>C
c.1805A>C
c.878A>C
n.2A>C
n.144A>C
12g.6592465T>ACA383587942CHD4c.2837A>T (p.Lys946Ile)
n.102A>T
c.2876A>T (p.Lys959Ile)
c.2867A>T (p.Lys956Ile)
c.2802A>T
c.2816A>T (p.Lys939Ile)
c.2855A>T (p.Lys952Ile)
c.1593A>T
c.2843A>T (p.Lys948Ile)
c.734A>T (p.Lys245Ile)
n.831A>T
n.2456A>T
c.1804A>T
c.877A>T
n.1A>T
n.143A>T
12g.6592465T>CCA383587956CHD4c.2837A>G (p.Lys946Arg)
n.102A>G
c.2876A>G (p.Lys959Arg)
c.2867A>G (p.Lys956Arg)
c.2802A>G
c.2816A>G (p.Lys939Arg)
c.2855A>G (p.Lys952Arg)
c.1593A>G
c.2843A>G (p.Lys948Arg)
c.734A>G (p.Lys245Arg)
n.831A>G
n.2456A>G
c.1804A>G
c.877A>G
n.1A>G
n.143A>G
12g.6592465T>GCA383587960CHD4c.2837A>C (p.Lys946Thr)
n.102A>C
c.2876A>C (p.Lys959Thr)
c.2867A>C (p.Lys956Thr)
c.2802A>C
c.2816A>C (p.Lys939Thr)
c.2855A>C (p.Lys952Thr)
c.1593A>C
c.2843A>C (p.Lys948Thr)
c.734A>C (p.Lys245Thr)
n.831A>C
n.2456A>C
c.1804A>C
c.877A>C
n.1A>C
n.143A>C
12g.6592466T>ACA383587968CHD4c.2836A>T (p.Lys946Ter)
n.101A>T
c.2875A>T (p.Lys959Ter)
c.2866A>T (p.Lys956Ter)
c.2801A>T
c.2815A>T (p.Lys939Ter)
c.2854A>T (p.Lys952Ter)
c.1592A>T
c.2842A>T (p.Lys948Ter)
c.733A>T (p.Lys245Ter)
n.830A>T
n.2455A>T
c.1803A>T
c.876A>T
n.142A>T
12g.6592466T>CCA383587971CHD4c.2836A>G (p.Lys946Glu)
n.101A>G
c.2875A>G (p.Lys959Glu)
c.2866A>G (p.Lys956Glu)
c.2801A>G
c.2815A>G (p.Lys939Glu)
c.2854A>G (p.Lys952Glu)
c.1592A>G
c.2842A>G (p.Lys948Glu)
c.733A>G (p.Lys245Glu)
n.830A>G
n.2455A>G
c.1803A>G
c.876A>G
n.142A>G
12g.6592466T>GCA383587974CHD4c.2836A>C (p.Lys946Gln)
n.101A>C
c.2875A>C (p.Lys959Gln)
c.2866A>C (p.Lys956Gln)
c.2801A>C
c.2815A>C (p.Lys939Gln)
c.2854A>C (p.Lys952Gln)
c.1592A>C
c.2842A>C (p.Lys948Gln)
c.733A>C (p.Lys245Gln)
n.830A>C
n.2455A>C
c.1803A>C
c.876A>C
n.142A>C
 dbSNP
12g.6592466T=CA2014148537CHD4c.2836A= (p.Lys946=)
n.101A=
c.2875A= (p.Lys959=)
c.2866A= (p.Lys956=)
c.2801A=
c.2815A= (p.Lys939=)
c.2854A= (p.Lys952=)
c.1592A=
c.2842A= (p.Lys948=)
c.733A= (p.Lys245=)
n.830A=
n.2455A=
c.1803A=
c.876A=
n.142A=
12g.6592467G>ACA478511198CHD4c.2835C>T (p.Leu945=)
n.100C>T
c.2874C>T (p.Leu958=)
c.2865C>T (p.Leu955=)
c.2800C>T
c.2814C>T (p.Leu938=)
c.2853C>T (p.Leu951=)
c.1591C>T
c.2841C>T (p.Leu947=)
c.732C>T (p.Leu244=)
n.829C>T
n.2454C>T
c.1802C>T
c.875C>T
n.141C>T
 gnomAD v4
12g.6592467G>CCA478511199CHD4c.2835C>G (p.Leu945=)
n.100C>G
c.2874C>G (p.Leu958=)
c.2865C>G (p.Leu955=)
c.2800C>G
c.2814C>G (p.Leu938=)
c.2853C>G (p.Leu951=)
c.1591C>G
c.2841C>G (p.Leu947=)
c.732C>G (p.Leu244=)
n.829C>G
n.2454C>G
c.1802C>G
c.875C>G
n.141C>G
12g.6592467G=CA2014148539CHD4c.2835C= (p.Leu945=)
n.100C=
c.2874C= (p.Leu958=)
c.2865C= (p.Leu955=)
c.2800C=
c.2814C= (p.Leu938=)
c.2853C= (p.Leu951=)
c.1591C=
c.2841C= (p.Leu947=)
c.732C= (p.Leu244=)
n.829C=
n.2454C=
c.1802C=
c.875C=
n.141C=
12g.6592467G>TCA232392593CHD4c.2835C>A (p.Leu945=)
n.100C>A
c.2874C>A (p.Leu958=)
c.2865C>A (p.Leu955=)
c.2800C>A
c.2814C>A (p.Leu938=)
c.2853C>A (p.Leu951=)
c.1591C>A
c.2841C>A (p.Leu947=)
c.732C>A (p.Leu244=)
n.829C>A
n.2454C>A
c.1802C>A
c.875C>A
n.141C>A
 dbSNP
12g.6592468A>CCA383587979CHD4c.2834T>G (p.Leu945Arg)
n.99T>G
c.2873T>G (p.Leu958Arg)
c.2864T>G (p.Leu955Arg)
c.2799T>G
c.2813T>G (p.Leu938Arg)
c.2852T>G (p.Leu951Arg)
c.1590T>G
c.2840T>G (p.Leu947Arg)
c.731T>G (p.Leu244Arg)
n.828T>G
n.2453T>G
c.1801T>G
c.874T>G
n.140T>G
12g.6592468A>GCA383587983CHD4c.2834T>C (p.Leu945Pro)
n.99T>C
c.2873T>C (p.Leu958Pro)
c.2864T>C (p.Leu955Pro)
c.2799T>C
c.2813T>C (p.Leu938Pro)
c.2852T>C (p.Leu951Pro)
c.1590T>C
c.2840T>C (p.Leu947Pro)
c.731T>C (p.Leu244Pro)
n.828T>C
n.2453T>C
c.1801T>C
c.874T>C
n.140T>C
 ClinVar
12g.6592468A>TCA383587987CHD4c.2834T>A (p.Leu945His)
n.99T>A
c.2873T>A (p.Leu958His)
c.2864T>A (p.Leu955His)
c.2799T>A
c.2813T>A (p.Leu938His)
c.2852T>A (p.Leu951His)
c.1590T>A
c.2840T>A (p.Leu947His)
c.731T>A (p.Leu244His)
n.828T>A
n.2453T>A
c.1801T>A
c.874T>A
n.140T>A
 COSMIC COSMIC COSMIC
12g.6592469G>ACA383587992CHD4c.2833C>T (p.Leu945Phe)
n.98C>T
c.2872C>T (p.Leu958Phe)
c.2863C>T (p.Leu955Phe)
c.2798C>T
c.2812C>T (p.Leu938Phe)
c.2851C>T (p.Leu951Phe)
c.1589C>T
c.2839C>T (p.Leu947Phe)
c.730C>T (p.Leu244Phe)
n.827C>T
n.2452C>T
c.1800C>T
c.873C>T
n.139C>T
12g.6592469G>CCA383587997CHD4c.2833C>G (p.Leu945Val)
n.98C>G
c.2872C>G (p.Leu958Val)
c.2863C>G (p.Leu955Val)
c.2798C>G
c.2812C>G (p.Leu938Val)
c.2851C>G (p.Leu951Val)
c.1589C>G
c.2839C>G (p.Leu947Val)
c.730C>G (p.Leu244Val)
n.827C>G
n.2452C>G
c.1800C>G
c.873C>G
n.139C>G
 dbSNP
12g.6592469G=CA2014148542CHD4c.2833C= (p.Leu945=)
n.98C=
c.2872C= (p.Leu958=)
c.2863C= (p.Leu955=)
c.2798C=
c.2812C= (p.Leu938=)
c.2851C= (p.Leu951=)
c.1589C=
c.2839C= (p.Leu947=)
c.730C= (p.Leu244=)
n.827C=
n.2452C=
c.1800C=
c.873C=
n.139C=
12g.6592469G>TCA383588000CHD4c.2833C>A (p.Leu945Ile)
n.98C>A
c.2872C>A (p.Leu958Ile)
c.2863C>A (p.Leu955Ile)
c.2798C>A
c.2812C>A (p.Leu938Ile)
c.2851C>A (p.Leu951Ile)
c.1589C>A
c.2839C>A (p.Leu947Ile)
c.730C>A (p.Leu244Ile)
n.827C>A
n.2452C>A
c.1800C>A
c.873C>A
n.139C>A
12g.6592470C>ACA478511200CHD4c.2832G>T (p.Arg944=)
n.97G>T
c.2871G>T (p.Arg957=)
c.2862G>T (p.Arg954=)
c.2797G>T
c.2811G>T (p.Arg937=)
c.2850G>T (p.Arg950=)
c.1588G>T
c.2838G>T (p.Arg946=)
c.729G>T (p.Arg243=)
n.826G>T
n.2451G>T
c.1799G>T
c.872G>T
n.138G>T
 gnomAD v4
12g.6592470C=CA2014148547CHD4c.2832G= (p.Arg944=)
n.97G=
c.2871G= (p.Arg957=)
c.2862G= (p.Arg954=)
c.2797G=
c.2811G= (p.Arg937=)
c.2850G= (p.Arg950=)
c.1588G=
c.2838G= (p.Arg946=)
c.729G= (p.Arg243=)
n.826G=
n.2451G=
c.1799G=
c.872G=
n.138G=
12g.6592470C>GCA478511201CHD4c.2832G>C (p.Arg944=)
n.97G>C
c.2871G>C (p.Arg957=)
c.2862G>C (p.Arg954=)
c.2797G>C
c.2811G>C (p.Arg937=)
c.2850G>C (p.Arg950=)
c.1588G>C
c.2838G>C (p.Arg946=)
c.729G>C (p.Arg243=)
n.826G>C
n.2451G>C
c.1799G>C
c.872G>C
n.138G>C
 dbSNP
12g.6592470C>TCA478511202CHD4c.2832G>A (p.Arg944=)
n.97G>A
c.2871G>A (p.Arg957=)
c.2862G>A (p.Arg954=)
c.2797G>A
c.2811G>A (p.Arg937=)
c.2850G>A (p.Arg950=)
c.1588G>A
c.2838G>A (p.Arg946=)
c.729G>A (p.Arg243=)
n.826G>A
n.2451G>A
c.1799G>A
c.872G>A
n.138G>A
 dbSNP gnomAD v2 gnomAD v4
12g.6592471C>ACA383588006CHD4c.2831G>T (p.Arg944Leu)
n.96G>T
c.2870G>T (p.Arg957Leu)
c.2861G>T (p.Arg954Leu)
c.2796G>T
c.2810G>T (p.Arg937Leu)
c.2849G>T (p.Arg950Leu)
c.1587G>T
c.2837G>T (p.Arg946Leu)
c.728G>T (p.Arg243Leu)
n.825G>T
n.2450G>T
c.1798G>T
c.871G>T
n.137G>T
12g.6592471C=CA2014148551CHD4c.2831G= (p.Arg944=)
n.96G=
c.2870G= (p.Arg957=)
c.2861G= (p.Arg954=)
c.2796G=
c.2810G= (p.Arg937=)
c.2849G= (p.Arg950=)
c.1587G=
c.2837G= (p.Arg946=)
c.728G= (p.Arg243=)
n.825G=
n.2450G=
c.1798G=
c.871G=
n.137G=
12g.6592471C>GCA383588019CHD4c.2831G>C (p.Arg944Pro)
n.96G>C
c.2870G>C (p.Arg957Pro)
c.2861G>C (p.Arg954Pro)
c.2796G>C
c.2810G>C (p.Arg937Pro)
c.2849G>C (p.Arg950Pro)
c.1587G>C
c.2837G>C (p.Arg946Pro)
c.728G>C (p.Arg243Pro)
n.825G>C
n.2450G>C
c.1798G>C
c.871G>C
n.137G>C
12g.6592471C>TCA232392594CHD4c.2831G>A (p.Arg944Gln)
n.96G>A
c.2870G>A (p.Arg957Gln)
c.2861G>A (p.Arg954Gln)
c.2796G>A
c.2810G>A (p.Arg937Gln)
c.2849G>A (p.Arg950Gln)
c.1587G>A
c.2837G>A (p.Arg946Gln)
c.728G>A (p.Arg243Gln)
n.825G>A
n.2450G>A
c.1798G>A
c.871G>A
n.137G>A
 dbSNP COSMIC COSMIC COSMIC
12g.6592472G>ACA383588025CHD4c.2830C>T (p.Arg944Trp)
n.95C>T
c.2869C>T (p.Arg957Trp)
c.2860C>T (p.Arg954Trp)
c.2795C>T
c.2809C>T (p.Arg937Trp)
c.2848C>T (p.Arg950Trp)
c.1586C>T
c.2836C>T (p.Arg946Trp)
c.727C>T (p.Arg243Trp)
n.824C>T
n.2449C>T
c.1797C>T
c.870C>T
n.136C>T
 gnomAD v4 COSMIC COSMIC COSMIC
12g.6592472G>CCA383588032CHD4c.2830C>G (p.Arg944Gly)
n.95C>G
c.2869C>G (p.Arg957Gly)
c.2860C>G (p.Arg954Gly)
c.2795C>G
c.2809C>G (p.Arg937Gly)
c.2848C>G (p.Arg950Gly)
c.1586C>G
c.2836C>G (p.Arg946Gly)
c.727C>G (p.Arg243Gly)
n.824C>G
n.2449C>G
c.1797C>G
c.870C>G
n.136C>G
12g.6592472G=CA2014148554CHD4c.2830C= (p.Arg944=)
n.95C=
c.2869C= (p.Arg957=)
c.2860C= (p.Arg954=)
c.2795C=
c.2809C= (p.Arg937=)
c.2848C= (p.Arg950=)
c.1586C=
c.2836C= (p.Arg946=)
c.727C= (p.Arg243=)
n.824C=
n.2449C=
c.1797C=
c.870C=
n.136C=
12g.6592472G>TCA6411887CHD4c.2830C>A (p.Arg944=)
n.95C>A
c.2869C>A (p.Arg957=)
c.2860C>A (p.Arg954=)
c.2795C>A
c.2809C>A (p.Arg937=)
c.2848C>A (p.Arg950=)
c.1586C>A
c.2836C>A (p.Arg946=)
c.727C>A (p.Arg243=)
n.824C>A
n.2449C>A
c.1797C>A
c.870C>A
n.136C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6592473C>ACA478511203CHD4c.2829G>T (p.Arg943=)
n.94G>T
c.2868G>T (p.Arg956=)
c.2859G>T (p.Arg953=)
c.2794G>T
c.2808G>T (p.Arg936=)
c.2847G>T (p.Arg949=)
c.1585G>T
c.2835G>T (p.Arg945=)
c.726G>T (p.Arg242=)
n.823G>T
n.2448G>T
c.1796G>T
c.869G>T
n.135G>T
12g.6592473C>GCA478511204CHD4c.2829G>C (p.Arg943=)
n.94G>C
c.2868G>C (p.Arg956=)
c.2859G>C (p.Arg953=)
c.2794G>C
c.2808G>C (p.Arg936=)
c.2847G>C (p.Arg949=)
c.1585G>C
c.2835G>C (p.Arg945=)
c.726G>C (p.Arg242=)
n.823G>C
n.2448G>C
c.1796G>C
c.869G>C
n.135G>C
12g.6592473C>TCA478511205CHD4c.2829G>A (p.Arg943=)
n.94G>A
c.2868G>A (p.Arg956=)
c.2859G>A (p.Arg953=)
c.2794G>A
c.2808G>A (p.Arg936=)
c.2847G>A (p.Arg949=)
c.1585G>A
c.2835G>A (p.Arg945=)
c.726G>A (p.Arg242=)
n.823G>A
n.2448G>A
c.1796G>A
c.869G>A
n.135G>A
12g.6592474C>ACA383588038CHD4c.2828G>T (p.Arg943Leu)
n.93G>T
c.2867G>T (p.Arg956Leu)
c.2858G>T (p.Arg953Leu)
c.2793G>T
c.2807G>T (p.Arg936Leu)
c.2846G>T (p.Arg949Leu)
c.1584G>T
c.2834G>T (p.Arg945Leu)
c.725G>T (p.Arg242Leu)
n.822G>T
n.2447G>T
c.1795G>T
c.868G>T
n.134G>T
12g.6592474C>GCA383588042CHD4c.2828G>C (p.Arg943Pro)
n.93G>C
c.2867G>C (p.Arg956Pro)
c.2858G>C (p.Arg953Pro)
c.2793G>C
c.2807G>C (p.Arg936Pro)
c.2846G>C (p.Arg949Pro)
c.1584G>C
c.2834G>C (p.Arg945Pro)
c.725G>C (p.Arg242Pro)
n.822G>C
n.2447G>C
c.1795G>C
c.868G>C
n.134G>C
12g.6592474C>TCA383588045CHD4c.2828G>A (p.Arg943Gln)
n.93G>A
c.2867G>A (p.Arg956Gln)
c.2858G>A (p.Arg953Gln)
c.2793G>A
c.2807G>A (p.Arg936Gln)
c.2846G>A (p.Arg949Gln)
c.1584G>A
c.2834G>A (p.Arg945Gln)
c.725G>A (p.Arg242Gln)
n.822G>A
n.2447G>A
c.1795G>A
c.868G>A
n.134G>A
 COSMIC COSMIC COSMIC
12g.6592475G>ACA383588047CHD4c.2827C>T (p.Arg943Trp)
n.92C>T
c.2866C>T (p.Arg956Trp)
c.2857C>T (p.Arg953Trp)
c.2792C>T
c.2806C>T (p.Arg936Trp)
c.2845C>T (p.Arg949Trp)
c.1583C>T
c.2833C>T (p.Arg945Trp)
c.724C>T (p.Arg242Trp)
n.821C>T
n.2446C>T
c.1794C>T
c.867C>T
n.133C>T
12g.6592475G>CCA383588051CHD4c.2827C>G (p.Arg943Gly)
n.92C>G
c.2866C>G (p.Arg956Gly)
c.2857C>G (p.Arg953Gly)
c.2792C>G
c.2806C>G (p.Arg936Gly)
c.2845C>G (p.Arg949Gly)
c.1583C>G
c.2833C>G (p.Arg945Gly)
c.724C>G (p.Arg242Gly)
n.821C>G
n.2446C>G
c.1794C>G
c.867C>G
n.133C>G
12g.6592475G>TCA478511206CHD4c.2827C>A (p.Arg943=)
n.92C>A
c.2866C>A (p.Arg956=)
c.2857C>A (p.Arg953=)
c.2792C>A
c.2806C>A (p.Arg936=)
c.2845C>A (p.Arg949=)
c.1583C>A
c.2833C>A (p.Arg945=)
c.724C>A (p.Arg242=)
n.821C>A
n.2446C>A
c.1794C>A
c.867C>A
n.133C>A
12g.6592476C>ACA383588056CHD4c.2826G>T (p.Leu942Phe)
n.91G>T
c.2865G>T (p.Leu955Phe)
c.2856G>T (p.Leu952Phe)
c.2791G>T
c.2805G>T (p.Leu935Phe)
c.2844G>T (p.Leu948Phe)
c.1582G>T
c.2832G>T (p.Leu944Phe)
c.723G>T (p.Leu241Phe)
n.820G>T
n.2445G>T
c.1793G>T
c.866G>T
n.132G>T
12g.6592476C=CA2014148557CHD4c.2826G= (p.Leu942=)
n.91G=
c.2865G= (p.Leu955=)
c.2856G= (p.Leu952=)
c.2791G=
c.2805G= (p.Leu935=)
c.2844G= (p.Leu948=)
c.1582G=
c.2832G= (p.Leu944=)
c.723G= (p.Leu241=)
n.820G=
n.2445G=
c.1793G=
c.866G=
n.132G=
12g.6592476C>GCA383588060CHD4c.2826G>C (p.Leu942Phe)
n.91G>C
c.2865G>C (p.Leu955Phe)
c.2856G>C (p.Leu952Phe)
c.2791G>C
c.2805G>C (p.Leu935Phe)
c.2844G>C (p.Leu948Phe)
c.1582G>C
c.2832G>C (p.Leu944Phe)
c.723G>C (p.Leu241Phe)
n.820G>C
n.2445G>C
c.1793G>C
c.866G>C
n.132G>C
12g.6592476C>TCA6411888CHD4c.2826G>A (p.Leu942=)
n.91G>A
c.2865G>A (p.Leu955=)
c.2856G>A (p.Leu952=)
c.2791G>A
c.2805G>A (p.Leu935=)
c.2844G>A (p.Leu948=)
c.1582G>A
c.2832G>A (p.Leu944=)
c.723G>A (p.Leu241=)
n.820G>A
n.2445G>A
c.1793G>A
c.866G>A
n.132G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592477A>CCA383588065CHD4c.2825T>G (p.Leu942Trp)
n.90T>G
c.2864T>G (p.Leu955Trp)
c.2855T>G (p.Leu952Trp)
c.2790T>G
c.2804T>G (p.Leu935Trp)
c.2843T>G (p.Leu948Trp)
c.1581T>G
c.2831T>G (p.Leu944Trp)
c.722T>G (p.Leu241Trp)
n.819T>G
n.2444T>G
c.1792T>G
c.865T>G
n.131T>G
12g.6592477A>GCA383588070CHD4c.2825T>C (p.Leu942Ser)
n.90T>C
c.2864T>C (p.Leu955Ser)
c.2855T>C (p.Leu952Ser)
c.2790T>C
c.2804T>C (p.Leu935Ser)
c.2843T>C (p.Leu948Ser)
c.1581T>C
c.2831T>C (p.Leu944Ser)
c.722T>C (p.Leu241Ser)
n.819T>C
n.2444T>C
c.1792T>C
c.865T>C
n.131T>C
12g.6592477A>TCA383588067CHD4c.2825T>A (p.Leu942Ter)
n.90T>A
c.2864T>A (p.Leu955Ter)
c.2855T>A (p.Leu952Ter)
c.2790T>A
c.2804T>A (p.Leu935Ter)
c.2843T>A (p.Leu948Ter)
c.1581T>A
c.2831T>A (p.Leu944Ter)
c.722T>A (p.Leu241Ter)
n.819T>A
n.2444T>A
c.1792T>A
c.865T>A
n.131T>A
12g.6592478delCA2575058067CHD4c.2825del (p.Leu942CysfsTer18)
n.90del
c.2864del (p.Leu955CysfsTer18)
c.2855del (p.Leu952CysfsTer18)
c.2790del
c.2804del (p.Leu935CysfsTer18)
c.2843del (p.Leu948CysfsTer18)
c.1581del
c.2831del (p.Leu944CysfsTer18)
c.722del (p.Leu241CysfsTer18)
n.819del
n.2444del
c.1792del
c.865del
n.131del
12g.6592478A>CCA383588071CHD4c.2824T>G (p.Leu942Val)
n.89T>G
c.2863T>G (p.Leu955Val)
c.2854T>G (p.Leu952Val)
c.2789T>G
c.2803T>G (p.Leu935Val)
c.2842T>G (p.Leu948Val)
c.1580T>G
c.2830T>G (p.Leu944Val)
c.721T>G (p.Leu241Val)
n.818T>G
n.2443T>G
c.1791T>G
c.864T>G
n.130T>G
12g.6592478A>GCA478511207CHD4c.2824T>C (p.Leu942=)
n.89T>C
c.2863T>C (p.Leu955=)
c.2854T>C (p.Leu952=)
c.2789T>C
c.2803T>C (p.Leu935=)
c.2842T>C (p.Leu948=)
c.1580T>C
c.2830T>C (p.Leu944=)
c.721T>C (p.Leu241=)
n.818T>C
n.2443T>C
c.1791T>C
c.864T>C
n.130T>C
12g.6592478A>TCA383588074CHD4c.2824T>A (p.Leu942Met)
n.89T>A
c.2863T>A (p.Leu955Met)
c.2854T>A (p.Leu952Met)
c.2789T>A
c.2803T>A (p.Leu935Met)
c.2842T>A (p.Leu948Met)
c.1580T>A
c.2830T>A (p.Leu944Met)
c.721T>A (p.Leu241Met)
n.818T>A
n.2443T>A
c.1791T>A
c.864T>A
n.130T>A
12g.6592479C>ACA383588075CHD4c.2823G>T (p.Met941Ile)
n.88G>T
c.2862G>T (p.Met954Ile)
c.2853G>T (p.Met951Ile)
c.2788G>T
c.2802G>T (p.Met934Ile)
c.2841G>T (p.Met947Ile)
c.1579G>T
c.2829G>T (p.Met943Ile)
c.720G>T (p.Met240Ile)
n.817G>T
n.2442G>T
c.1790G>T
c.863G>T
n.129G>T
12g.6592479C=CA2014148560CHD4c.2823G= (p.Met941=)
n.88G=
c.2862G= (p.Met954=)
c.2853G= (p.Met951=)
c.2788G=
c.2802G= (p.Met934=)
c.2841G= (p.Met947=)
c.1579G=
c.2829G= (p.Met943=)
c.720G= (p.Met240=)
n.817G=
n.2442G=
c.1790G=
c.863G=
n.129G=
12g.6592479C>GCA383588076CHD4c.2823G>C (p.Met941Ile)
n.88G>C
c.2862G>C (p.Met954Ile)
c.2853G>C (p.Met951Ile)
c.2788G>C
c.2802G>C (p.Met934Ile)
c.2841G>C (p.Met947Ile)
c.1579G>C
c.2829G>C (p.Met943Ile)
c.720G>C (p.Met240Ile)
n.817G>C
n.2442G>C
c.1790G>C
c.863G>C
n.129G>C
12g.6592479C>TCA383588077CHD4c.2823G>A (p.Met941Ile)
n.88G>A
c.2862G>A (p.Met954Ile)
c.2853G>A (p.Met951Ile)
c.2788G>A
c.2802G>A (p.Met934Ile)
c.2841G>A (p.Met947Ile)
c.1579G>A
c.2829G>A (p.Met943Ile)
c.720G>A (p.Met240Ile)
n.817G>A
n.2442G>A
c.1790G>A
c.863G>A
n.129G>A
 ClinVar dbSNP
12g.6592480A>CCA383588079CHD4c.2822T>G (p.Met941Arg)
n.87T>G
c.2861T>G (p.Met954Arg)
c.2852T>G (p.Met951Arg)
c.2787T>G
c.2801T>G (p.Met934Arg)
c.2840T>G (p.Met947Arg)
c.1578T>G
c.2828T>G (p.Met943Arg)
c.719T>G (p.Met240Arg)
n.816T>G
n.2441T>G
c.1789T>G
c.862T>G
n.128T>G
12g.6592480A>GCA383588082CHD4c.2822T>C (p.Met941Thr)
n.87T>C
c.2861T>C (p.Met954Thr)
c.2852T>C (p.Met951Thr)
c.2787T>C
c.2801T>C (p.Met934Thr)
c.2840T>C (p.Met947Thr)
c.1578T>C
c.2828T>C (p.Met943Thr)
c.719T>C (p.Met240Thr)
n.816T>C
n.2441T>C
c.1789T>C
c.862T>C
n.128T>C
 COSMIC COSMIC
12g.6592480A>TCA383588083CHD4c.2822T>A (p.Met941Lys)
n.87T>A
c.2861T>A (p.Met954Lys)
c.2852T>A (p.Met951Lys)
c.2787T>A
c.2801T>A (p.Met934Lys)
c.2840T>A (p.Met947Lys)
c.1578T>A
c.2828T>A (p.Met943Lys)
c.719T>A (p.Met240Lys)
n.816T>A
n.2441T>A
c.1789T>A
c.862T>A
n.128T>A
12g.6592481T>ACA383588087CHD4c.2821A>T (p.Met941Leu)
n.86A>T
c.2860A>T (p.Met954Leu)
c.2851A>T (p.Met951Leu)
c.2786A>T
c.2800A>T (p.Met934Leu)
c.2839A>T (p.Met947Leu)
c.1577A>T
c.2827A>T (p.Met943Leu)
c.718A>T (p.Met240Leu)
n.815A>T
n.2440A>T
c.1788A>T
c.861A>T
n.127A>T
12g.6592481T>CCA383588089CHD4c.2821A>G (p.Met941Val)
n.86A>G
c.2860A>G (p.Met954Val)
c.2851A>G (p.Met951Val)
c.2786A>G
c.2800A>G (p.Met934Val)
c.2839A>G (p.Met947Val)
c.1577A>G
c.2827A>G (p.Met943Val)
c.718A>G (p.Met240Val)
n.815A>G
n.2440A>G
c.1788A>G
c.861A>G
n.127A>G
12g.6592481T>GCA383588091CHD4c.2821A>C (p.Met941Leu)
n.86A>C
c.2860A>C (p.Met954Leu)
c.2851A>C (p.Met951Leu)
c.2786A>C
c.2800A>C (p.Met934Leu)
c.2839A>C (p.Met947Leu)
c.1577A>C
c.2827A>C (p.Met943Leu)
c.718A>C (p.Met240Leu)
n.815A>C
n.2440A>C
c.1788A>C
c.861A>C
n.127A>C
12g.6592482G>ACA232392596CHD4c.2820C>T (p.His940=)
n.85C>T
c.2859C>T (p.His953=)
c.2850C>T (p.His950=)
c.2785C>T
c.2799C>T (p.His933=)
c.2838C>T (p.His946=)
c.1576C>T
c.2826C>T (p.His942=)
c.717C>T (p.His239=)
n.814C>T
n.2439C>T
c.1787C>T
c.860C>T
n.126C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6592482G>CCA383588094CHD4c.2820C>G (p.His940Gln)
n.85C>G
c.2859C>G (p.His953Gln)
c.2850C>G (p.His950Gln)
c.2785C>G
c.2799C>G (p.His933Gln)
c.2838C>G (p.His946Gln)
c.1576C>G
c.2826C>G (p.His942Gln)
c.717C>G (p.His239Gln)
n.814C>G
n.2439C>G
c.1787C>G
c.860C>G
n.126C>G
12g.6592482G=CA2014148564CHD4c.2820C= (p.His940=)
n.85C=
c.2859C= (p.His953=)
c.2850C= (p.His950=)
c.2785C=
c.2799C= (p.His933=)
c.2838C= (p.His946=)
c.1576C=
c.2826C= (p.His942=)
c.717C= (p.His239=)
n.814C=
n.2439C=
c.1787C=
c.860C=
n.126C=
12g.6592482G>TCA383588095CHD4c.2820C>A (p.His940Gln)
n.85C>A
c.2859C>A (p.His953Gln)
c.2850C>A (p.His950Gln)
c.2785C>A
c.2799C>A (p.His933Gln)
c.2838C>A (p.His946Gln)
c.1576C>A
c.2826C>A (p.His942Gln)
c.717C>A (p.His239Gln)
n.814C>A
n.2439C>A
c.1787C>A
c.860C>A
n.126C>A
12g.6592483T>ACA383588098CHD4c.2819A>T (p.His940Leu)
n.84A>T
c.2858A>T (p.His953Leu)
c.2849A>T (p.His950Leu)
c.2784A>T
c.2798A>T (p.His933Leu)
c.2837A>T (p.His946Leu)
c.1575A>T
c.2825A>T (p.His942Leu)
c.716A>T (p.His239Leu)
n.813A>T
n.2438A>T
c.1786A>T
c.859A>T
n.125A>T
12g.6592483T>CCA383588101CHD4c.2819A>G (p.His940Arg)
n.84A>G
c.2858A>G (p.His953Arg)
c.2849A>G (p.His950Arg)
c.2784A>G
c.2798A>G (p.His933Arg)
c.2837A>G (p.His946Arg)
c.1575A>G
c.2825A>G (p.His942Arg)
c.716A>G (p.His239Arg)
n.813A>G
n.2438A>G
c.1786A>G
c.859A>G
n.125A>G
12g.6592483T>GCA383588100CHD4c.2819A>C (p.His940Pro)
n.84A>C
c.2858A>C (p.His953Pro)
c.2849A>C (p.His950Pro)
c.2784A>C
c.2798A>C (p.His933Pro)
c.2837A>C (p.His946Pro)
c.1575A>C
c.2825A>C (p.His942Pro)
c.716A>C (p.His239Pro)
n.813A>C
n.2438A>C
c.1786A>C
c.859A>C
n.125A>C
12g.6592483dupCA2575058068CHD4c.2819dup (p.His940GlnfsTer?)
n.84dup
c.2858dup (p.His953GlnfsTer?)
c.2849dup (p.His950GlnfsTer?)
c.2784dup
c.2798dup (p.His933GlnfsTer?)
c.2837dup (p.His946GlnfsTer?)
c.1575dup
c.2825dup (p.His942GlnfsTer?)
c.716dup (p.His239GlnfsTer?)
n.813dup
n.2438dup
c.1786dup
c.859dup
n.125dup
12g.6592484G>ACA383588105CHD4c.2818C>T (p.His940Tyr)
n.83C>T
c.2857C>T (p.His953Tyr)
c.2848C>T (p.His950Tyr)
c.2783C>T
c.2797C>T (p.His933Tyr)
c.2836C>T (p.His946Tyr)
c.1574C>T
c.2824C>T (p.His942Tyr)
c.715C>T (p.His239Tyr)
n.812C>T
n.2437C>T
c.1785C>T
c.858C>T
n.124C>T
12g.6592484G>CCA383588107CHD4c.2818C>G (p.His940Asp)
n.83C>G
c.2857C>G (p.His953Asp)
c.2848C>G (p.His950Asp)
c.2783C>G
c.2797C>G (p.His933Asp)
c.2836C>G (p.His946Asp)
c.1574C>G
c.2824C>G (p.His942Asp)
c.715C>G (p.His239Asp)
n.812C>G
n.2437C>G
c.1785C>G
c.858C>G
n.124C>G
12g.6592484G>TCA383588109CHD4c.2818C>A (p.His940Asn)
n.83C>A
c.2857C>A (p.His953Asn)
c.2848C>A (p.His950Asn)
c.2783C>A
c.2797C>A (p.His933Asn)
c.2836C>A (p.His946Asn)
c.1574C>A
c.2824C>A (p.His942Asn)
c.715C>A (p.His239Asn)
n.812C>A
n.2437C>A
c.1785C>A
c.858C>A
n.124C>A
12g.6592485C>ACA478511208CHD4c.2817G>T (p.Pro939=)
n.82G>T
c.2856G>T (p.Pro952=)
c.2847G>T (p.Pro949=)
c.2782G>T
c.2796G>T (p.Pro932=)
c.2835G>T (p.Pro945=)
c.1573G>T
c.2823G>T (p.Pro941=)
c.714G>T (p.Pro238=)
n.811G>T
n.2436G>T
c.1784G>T
c.857G>T
n.123G>T
 gnomAD v4
12g.6592485C=CA2014148567CHD4c.2817G= (p.Pro939=)
n.82G=
c.2856G= (p.Pro952=)
c.2847G= (p.Pro949=)
c.2782G=
c.2796G= (p.Pro932=)
c.2835G= (p.Pro945=)
c.1573G=
c.2823G= (p.Pro941=)
c.714G= (p.Pro238=)
n.811G=
n.2436G=
c.1784G=
c.857G=
n.123G=
12g.6592485C>GCA478511209CHD4c.2817G>C (p.Pro939=)
n.82G>C
c.2856G>C (p.Pro952=)
c.2847G>C (p.Pro949=)
c.2782G>C
c.2796G>C (p.Pro932=)
c.2835G>C (p.Pro945=)
c.1573G>C
c.2823G>C (p.Pro941=)
c.714G>C (p.Pro238=)
n.811G>C
n.2436G>C
c.1784G>C
c.857G>C
n.123G>C
12g.6592485C>TCA6411889CHD4c.2817G>A (p.Pro939=)
n.82G>A
c.2856G>A (p.Pro952=)
c.2847G>A (p.Pro949=)
c.2782G>A
c.2796G>A (p.Pro932=)
c.2835G>A (p.Pro945=)
c.1573G>A
c.2823G>A (p.Pro941=)
c.714G>A (p.Pro238=)
n.811G>A
n.2436G>A
c.1784G>A
c.857G>A
n.123G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592486G>ACA383588115CHD4c.2816C>T (p.Pro939Leu)
n.81C>T
c.2855C>T (p.Pro952Leu)
c.2846C>T (p.Pro949Leu)
c.2781C>T
c.2795C>T (p.Pro932Leu)
c.2834C>T (p.Pro945Leu)
c.1572C>T
c.2822C>T (p.Pro941Leu)
c.713C>T (p.Pro238Leu)
n.810C>T
n.2435C>T
c.1783C>T
c.856C>T
n.122C>T
 gnomAD v4
12g.6592486G>CCA383588118CHD4c.2816C>G (p.Pro939Arg)
n.81C>G
c.2855C>G (p.Pro952Arg)
c.2846C>G (p.Pro949Arg)
c.2781C>G
c.2795C>G (p.Pro932Arg)
c.2834C>G (p.Pro945Arg)
c.1572C>G
c.2822C>G (p.Pro941Arg)
c.713C>G (p.Pro238Arg)
n.810C>G
n.2435C>G
c.1783C>G
c.856C>G
n.122C>G
 gnomAD v4
12g.6592486G>TCA383588120CHD4c.2816C>A (p.Pro939Gln)
n.81C>A
c.2855C>A (p.Pro952Gln)
c.2846C>A (p.Pro949Gln)
c.2781C>A
c.2795C>A (p.Pro932Gln)
c.2834C>A (p.Pro945Gln)
c.1572C>A
c.2822C>A (p.Pro941Gln)
c.713C>A (p.Pro238Gln)
n.810C>A
n.2435C>A
c.1783C>A
c.856C>A
n.122C>A
12g.6592487G>ACA383588123CHD4c.2815C>T (p.Pro939Ser)
n.80C>T
c.2854C>T (p.Pro952Ser)
c.2845C>T (p.Pro949Ser)
c.2780C>T
c.2794C>T (p.Pro932Ser)
c.2833C>T (p.Pro945Ser)
c.1571C>T
c.2821C>T (p.Pro941Ser)
c.712C>T (p.Pro238Ser)
n.809C>T
n.2434C>T
c.1782C>T
c.855C>T
n.121C>T
12g.6592487G>CCA383588125CHD4c.2815C>G (p.Pro939Ala)
n.80C>G
c.2854C>G (p.Pro952Ala)
c.2845C>G (p.Pro949Ala)
c.2780C>G
c.2794C>G (p.Pro932Ala)
c.2833C>G (p.Pro945Ala)
c.1571C>G
c.2821C>G (p.Pro941Ala)
c.712C>G (p.Pro238Ala)
n.809C>G
n.2434C>G
c.1782C>G
c.855C>G
n.121C>G
12g.6592487G>TCA383588127CHD4c.2815C>A (p.Pro939Thr)
n.80C>A
c.2854C>A (p.Pro952Thr)
c.2845C>A (p.Pro949Thr)
c.2780C>A
c.2794C>A (p.Pro932Thr)
c.2833C>A (p.Pro945Thr)
c.1571C>A
c.2821C>A (p.Pro941Thr)
c.712C>A (p.Pro238Thr)
n.809C>A
n.2434C>A
c.1782C>A
c.855C>A
n.121C>A
12g.6592488C>ACA478511210CHD4c.2814G>T (p.Gly938=)
n.79G>T
c.2853G>T (p.Gly951=)
c.2844G>T (p.Gly948=)
c.2779G>T
c.2793G>T (p.Gly931=)
c.2832G>T (p.Gly944=)
c.1570G>T
c.2820G>T (p.Gly940=)
c.711G>T (p.Gly237=)
n.808G>T
n.2433G>T
c.1781G>T
c.854G>T
n.120G>T
 gnomAD v4
12g.6592488C>GCA478511211CHD4c.2814G>C (p.Gly938=)
n.79G>C
c.2853G>C (p.Gly951=)
c.2844G>C (p.Gly948=)
c.2779G>C
c.2793G>C (p.Gly931=)
c.2832G>C (p.Gly944=)
c.1570G>C
c.2820G>C (p.Gly940=)
c.711G>C (p.Gly237=)
n.808G>C
n.2433G>C
c.1781G>C
c.854G>C
n.120G>C
12g.6592488C>TCA478511212CHD4c.2814G>A (p.Gly938=)
n.79G>A
c.2853G>A (p.Gly951=)
c.2844G>A (p.Gly948=)
c.2779G>A
c.2793G>A (p.Gly931=)
c.2832G>A (p.Gly944=)
c.1570G>A
c.2820G>A (p.Gly940=)
c.711G>A (p.Gly237=)
n.808G>A
n.2433G>A
c.1781G>A
c.854G>A
n.120G>A
 gnomAD v4
12g.6592489C>ACA383588136CHD4c.2813G>T (p.Gly938Val)
n.78G>T
c.2852G>T (p.Gly951Val)
c.2843G>T (p.Gly948Val)
c.2778G>T
c.2792G>T (p.Gly931Val)
c.2831G>T (p.Gly944Val)
c.1569G>T
c.2819G>T (p.Gly940Val)
c.710G>T (p.Gly237Val)
n.807G>T
n.2432G>T
c.1780G>T
c.853G>T
n.119G>T
12g.6592489C>GCA383588133CHD4c.2813G>C (p.Gly938Ala)
n.78G>C
c.2852G>C (p.Gly951Ala)
c.2843G>C (p.Gly948Ala)
c.2778G>C
c.2792G>C (p.Gly931Ala)
c.2831G>C (p.Gly944Ala)
c.1569G>C
c.2819G>C (p.Gly940Ala)
c.710G>C (p.Gly237Ala)
n.807G>C
n.2432G>C
c.1780G>C
c.853G>C
n.119G>C
12g.6592489C>TCA383588130CHD4c.2813G>A (p.Gly938Glu)
n.78G>A
c.2852G>A (p.Gly951Glu)
c.2843G>A (p.Gly948Glu)
c.2778G>A
c.2792G>A (p.Gly931Glu)
c.2831G>A (p.Gly944Glu)
c.1569G>A
c.2819G>A (p.Gly940Glu)
c.710G>A (p.Gly237Glu)
n.807G>A
n.2432G>A
c.1780G>A
c.853G>A
n.119G>A
12g.6592490C>ACA383588146CHD4c.2812G>T (p.Gly938Trp)
n.77G>T
c.2851G>T (p.Gly951Trp)
c.2842G>T (p.Gly948Trp)
c.2777G>T
c.2791G>T (p.Gly931Trp)
c.2830G>T (p.Gly944Trp)
c.1568G>T
c.2818G>T (p.Gly940Trp)
c.709G>T (p.Gly237Trp)
n.806G>T
n.2431G>T
c.1779G>T
c.852G>T
n.118G>T
12g.6592490C>GCA383588144CHD4c.2812G>C (p.Gly938Arg)
n.77G>C
c.2851G>C (p.Gly951Arg)
c.2842G>C (p.Gly948Arg)
c.2777G>C
c.2791G>C (p.Gly931Arg)
c.2830G>C (p.Gly944Arg)
c.1568G>C
c.2818G>C (p.Gly940Arg)
c.709G>C (p.Gly237Arg)
n.806G>C
n.2431G>C
c.1779G>C
c.852G>C
n.118G>C
12g.6592490C>TCA383588149CHD4c.2812G>A (p.Gly938Arg)
n.77G>A
c.2851G>A (p.Gly951Arg)
c.2842G>A (p.Gly948Arg)
c.2777G>A
c.2791G>A (p.Gly931Arg)
c.2830G>A (p.Gly944Arg)
c.1568G>A
c.2818G>A (p.Gly940Arg)
c.709G>A (p.Gly237Arg)
n.806G>A
n.2431G>A
c.1779G>A
c.852G>A
n.118G>A
 COSMIC COSMIC COSMIC
12g.6592491C>ACA478511213CHD4c.2811G>T (p.Leu937=)
n.76G>T
c.2850G>T (p.Leu950=)
c.2841G>T (p.Leu947=)
c.2776G>T
c.2790G>T (p.Leu930=)
c.2829G>T (p.Leu943=)
c.1567G>T
c.2817G>T (p.Leu939=)
c.708G>T (p.Leu236=)
n.805G>T
n.2430G>T
c.1778G>T
c.851G>T
n.117G>T
12g.6592491C>GCA478511214CHD4c.2811G>C (p.Leu937=)
n.76G>C
c.2850G>C (p.Leu950=)
c.2841G>C (p.Leu947=)
c.2776G>C
c.2790G>C (p.Leu930=)
c.2829G>C (p.Leu943=)
c.1567G>C
c.2817G>C (p.Leu939=)
c.708G>C (p.Leu236=)
n.805G>C
n.2430G>C
c.1778G>C
c.851G>C
n.117G>C
12g.6592491C>TCA478511215CHD4c.2811G>A (p.Leu937=)
n.76G>A
c.2850G>A (p.Leu950=)
c.2841G>A (p.Leu947=)
c.2776G>A
c.2790G>A (p.Leu930=)
c.2829G>A (p.Leu943=)
c.1567G>A
c.2817G>A (p.Leu939=)
c.708G>A (p.Leu236=)
n.805G>A
n.2430G>A
c.1778G>A
c.851G>A
n.117G>A
12g.6592492A>CCA383588151CHD4c.2810T>G (p.Leu937Arg)
n.75T>G
c.2849T>G (p.Leu950Arg)
c.2840T>G (p.Leu947Arg)
c.2775T>G
c.2789T>G (p.Leu930Arg)
c.2828T>G (p.Leu943Arg)
c.1566T>G
c.2816T>G (p.Leu939Arg)
c.707T>G (p.Leu236Arg)
n.804T>G
n.2429T>G
c.1777T>G
c.850T>G
n.116T>G
12g.6592492A>GCA383588155CHD4c.2810T>C (p.Leu937Pro)
n.75T>C
c.2849T>C (p.Leu950Pro)
c.2840T>C (p.Leu947Pro)
c.2775T>C
c.2789T>C (p.Leu930Pro)
c.2828T>C (p.Leu943Pro)
c.1566T>C
c.2816T>C (p.Leu939Pro)
c.707T>C (p.Leu236Pro)
n.804T>C
n.2429T>C
c.1777T>C
c.850T>C
n.116T>C
12g.6592492A>TCA383588154CHD4c.2810T>A (p.Leu937Gln)
n.75T>A
c.2849T>A (p.Leu950Gln)
c.2840T>A (p.Leu947Gln)
c.2775T>A
c.2789T>A (p.Leu930Gln)
c.2828T>A (p.Leu943Gln)
c.1566T>A
c.2816T>A (p.Leu939Gln)
c.707T>A (p.Leu236Gln)
n.804T>A
n.2429T>A
c.1777T>A
c.850T>A
n.116T>A
12g.6592493G>ACA478511216CHD4c.2809C>T (p.Leu937=)
n.74C>T
c.2848C>T (p.Leu950=)
c.2839C>T (p.Leu947=)
c.2774C>T
c.2788C>T (p.Leu930=)
c.2827C>T (p.Leu943=)
c.1565C>T
c.2815C>T (p.Leu939=)
c.706C>T (p.Leu236=)
n.803C>T
n.2428C>T
c.1776C>T
c.849C>T
n.115C>T
 dbSNP gnomAD v4
12g.6592493G>CCA383588156CHD4c.2809C>G (p.Leu937Val)
n.74C>G
c.2848C>G (p.Leu950Val)
c.2839C>G (p.Leu947Val)
c.2774C>G
c.2788C>G (p.Leu930Val)
c.2827C>G (p.Leu943Val)
c.1565C>G
c.2815C>G (p.Leu939Val)
c.706C>G (p.Leu236Val)
n.803C>G
n.2428C>G
c.1776C>G
c.849C>G
n.115C>G
12g.6592493G=CA2014148573CHD4c.2809C= (p.Leu937=)
n.74C=
c.2848C= (p.Leu950=)
c.2839C= (p.Leu947=)
c.2774C=
c.2788C= (p.Leu930=)
c.2827C= (p.Leu943=)
c.1565C=
c.2815C= (p.Leu939=)
c.706C= (p.Leu236=)
n.803C=
n.2428C=
c.1776C=
c.849C=
n.115C=
12g.6592493G>TCA383588157CHD4c.2809C>A (p.Leu937Met)
n.74C>A
c.2848C>A (p.Leu950Met)
c.2839C>A (p.Leu947Met)
c.2774C>A
c.2788C>A (p.Leu930Met)
c.2827C>A (p.Leu943Met)
c.1565C>A
c.2815C>A (p.Leu939Met)
c.706C>A (p.Leu236Met)
n.803C>A
n.2428C>A
c.1776C>A
c.849C>A
n.115C>A
12g.6592494C>ACA383588159CHD4c.2808G>T (p.Met936Ile)
n.73G>T
c.2847G>T (p.Met949Ile)
c.2838G>T (p.Met946Ile)
c.2773G>T
c.2787G>T (p.Met929Ile)
c.2826G>T (p.Met942Ile)
c.1564G>T
c.2814G>T (p.Met938Ile)
c.705G>T (p.Met235Ile)
n.802G>T
n.2427G>T
c.1775G>T
c.848G>T
n.114G>T
12g.6592494C>GCA383588161CHD4c.2808G>C (p.Met936Ile)
n.73G>C
c.2847G>C (p.Met949Ile)
c.2838G>C (p.Met946Ile)
c.2773G>C
c.2787G>C (p.Met929Ile)
c.2826G>C (p.Met942Ile)
c.1564G>C
c.2814G>C (p.Met938Ile)
c.705G>C (p.Met235Ile)
n.802G>C
n.2427G>C
c.1775G>C
c.848G>C
n.114G>C
12g.6592494C>TCA383588162CHD4c.2808G>A (p.Met936Ile)
n.73G>A
c.2847G>A (p.Met949Ile)
c.2838G>A (p.Met946Ile)
c.2773G>A
c.2787G>A (p.Met929Ile)
c.2826G>A (p.Met942Ile)
c.1564G>A
c.2814G>A (p.Met938Ile)
c.705G>A (p.Met235Ile)
n.802G>A
n.2427G>A
c.1775G>A
c.848G>A
n.114G>A
12g.6592495A>CCA383588165CHD4c.2807T>G (p.Met936Arg)
n.72T>G
c.2846T>G (p.Met949Arg)
c.2837T>G (p.Met946Arg)
c.2772T>G
c.2786T>G (p.Met929Arg)
c.2825T>G (p.Met942Arg)
c.1563T>G
c.2813T>G (p.Met938Arg)
c.704T>G (p.Met235Arg)
n.801T>G
n.2426T>G
c.1774T>G
c.847T>G
n.113T>G
12g.6592495A>GCA383588168CHD4c.2807T>C (p.Met936Thr)
n.72T>C
c.2846T>C (p.Met949Thr)
c.2837T>C (p.Met946Thr)
c.2772T>C
c.2786T>C (p.Met929Thr)
c.2825T>C (p.Met942Thr)
c.1563T>C
c.2813T>C (p.Met938Thr)
c.704T>C (p.Met235Thr)
n.801T>C
n.2426T>C
c.1774T>C
c.847T>C
n.113T>C
12g.6592495A>TCA383588170CHD4c.2807T>A (p.Met936Lys)
n.72T>A
c.2846T>A (p.Met949Lys)
c.2837T>A (p.Met946Lys)
c.2772T>A
c.2786T>A (p.Met929Lys)
c.2825T>A (p.Met942Lys)
c.1563T>A
c.2813T>A (p.Met938Lys)
c.704T>A (p.Met235Lys)
n.801T>A
n.2426T>A
c.1774T>A
c.847T>A
n.113T>A
12g.6592496T>ACA383588172CHD4c.2806A>T (p.Met936Leu)
n.71A>T
c.2845A>T (p.Met949Leu)
c.2836A>T (p.Met946Leu)
c.2771A>T
c.2785A>T (p.Met929Leu)
c.2824A>T (p.Met942Leu)
c.1562A>T
c.2812A>T (p.Met938Leu)
c.703A>T (p.Met235Leu)
n.800A>T
n.2425A>T
c.1773A>T
c.846A>T
n.112A>T
12g.6592496T>CCA383588174CHD4c.2806A>G (p.Met936Val)
n.71A>G
c.2845A>G (p.Met949Val)
c.2836A>G (p.Met946Val)
c.2771A>G
c.2785A>G (p.Met929Val)
c.2824A>G (p.Met942Val)
c.1562A>G
c.2812A>G (p.Met938Val)
c.703A>G (p.Met235Val)
n.800A>G
n.2425A>G
c.1773A>G
c.846A>G
n.112A>G
 gnomAD v4
12g.6592496T>GCA383588177CHD4c.2806A>C (p.Met936Leu)
n.71A>C
c.2845A>C (p.Met949Leu)
c.2836A>C (p.Met946Leu)
c.2771A>C
c.2785A>C (p.Met929Leu)
c.2824A>C (p.Met942Leu)
c.1562A>C
c.2812A>C (p.Met938Leu)
c.703A>C (p.Met235Leu)
n.800A>C
n.2425A>C
c.1773A>C
c.846A>C
n.112A>C
 gnomAD v4
12g.6592497G>ACA478511217CHD4c.2805C>T (p.Asp935=)
n.70C>T
c.2844C>T (p.Asp948=)
c.2835C>T (p.Asp945=)
c.2770C>T
c.2784C>T (p.Asp928=)
c.2823C>T (p.Asp941=)
c.1561C>T
c.2811C>T (p.Asp937=)
c.702C>T (p.Asp234=)
n.799C>T
n.2424C>T
c.1772C>T
c.845C>T
n.111C>T
 dbSNP gnomAD v4
12g.6592497G>CCA383588180CHD4c.2805C>G (p.Asp935Glu)
n.70C>G
c.2844C>G (p.Asp948Glu)
c.2835C>G (p.Asp945Glu)
c.2770C>G
c.2784C>G (p.Asp928Glu)
c.2823C>G (p.Asp941Glu)
c.1561C>G
c.2811C>G (p.Asp937Glu)
c.702C>G (p.Asp234Glu)
n.799C>G
n.2424C>G
c.1772C>G
c.845C>G
n.111C>G
12g.6592497G=CA2014148578CHD4c.2805C= (p.Asp935=)
n.70C=
c.2844C= (p.Asp948=)
c.2835C= (p.Asp945=)
c.2770C=
c.2784C= (p.Asp928=)
c.2823C= (p.Asp941=)
c.1561C=
c.2811C= (p.Asp937=)
c.702C= (p.Asp234=)
n.799C=
n.2424C=
c.1772C=
c.845C=
n.111C=
12g.6592497G>TCA383588184CHD4c.2805C>A (p.Asp935Glu)
n.70C>A
c.2844C>A (p.Asp948Glu)
c.2835C>A (p.Asp945Glu)
c.2770C>A
c.2784C>A (p.Asp928Glu)
c.2823C>A (p.Asp941Glu)
c.1561C>A
c.2811C>A (p.Asp937Glu)
c.702C>A (p.Asp234Glu)
n.799C>A
n.2424C>A
c.1772C>A
c.845C>A
n.111C>A
12g.6592497_6592498delinsGTCA2014148577CHD4c.2804_2805delinsAC (p.Asp935=)
n.69_70delinsAC
c.2843_2844delinsAC (p.Asp948=)
c.2834_2835delinsAC (p.Asp945=)
c.2769_2770delinsAC
c.2783_2784delinsAC (p.Asp928=)
c.2822_2823delinsAC (p.Asp941=)
c.1560_1561delinsAC
c.2810_2811delinsAC (p.Asp937=)
c.701_702delinsAC (p.Asp234=)
n.798_799delinsAC
n.2423_2424delinsAC
c.1771_1772delinsAC
c.844_845delinsAC
n.110_111delinsAC
12g.6592498delCA691054252CHD4c.2804del (p.Asp935AlafsTer25)
n.69del
c.2843del (p.Asp948AlafsTer25)
c.2834del (p.Asp945AlafsTer25)
c.2769del
c.2783del (p.Asp928AlafsTer25)
c.2822del (p.Asp941AlafsTer25)
c.1560del
c.2810del (p.Asp937AlafsTer25)
c.701del (p.Asp234AlafsTer25)
n.798del
n.2423del
c.1771del
c.844del
n.110del
 dbSNP
12g.6592498T>ACA383588188CHD4c.2804A>T (p.Asp935Val)
n.69A>T
c.2843A>T (p.Asp948Val)
c.2834A>T (p.Asp945Val)
c.2769A>T
c.2783A>T (p.Asp928Val)
c.2822A>T (p.Asp941Val)
c.1560A>T
c.2810A>T (p.Asp937Val)
c.701A>T (p.Asp234Val)
n.798A>T
n.2423A>T
c.1771A>T
c.844A>T
n.110A>T
12g.6592498T>CCA383588195CHD4c.2804A>G (p.Asp935Gly)
n.69A>G
c.2843A>G (p.Asp948Gly)
c.2834A>G (p.Asp945Gly)
c.2769A>G
c.2783A>G (p.Asp928Gly)
c.2822A>G (p.Asp941Gly)
c.1560A>G
c.2810A>G (p.Asp937Gly)
c.701A>G (p.Asp234Gly)
n.798A>G
n.2423A>G
c.1771A>G
c.844A>G
n.110A>G
12g.6592498T>GCA383588192CHD4c.2804A>C (p.Asp935Ala)
n.69A>C
c.2843A>C (p.Asp948Ala)
c.2834A>C (p.Asp945Ala)
c.2769A>C
c.2783A>C (p.Asp928Ala)
c.2822A>C (p.Asp941Ala)
c.1560A>C
c.2810A>C (p.Asp937Ala)
c.701A>C (p.Asp234Ala)
n.798A>C
n.2423A>C
c.1771A>C
c.844A>C
n.110A>C
12g.6592499C>ACA383588198CHD4c.2803G>T (p.Asp935Tyr)
n.68G>T
c.2842G>T (p.Asp948Tyr)
c.2833G>T (p.Asp945Tyr)
c.2768G>T
c.2782G>T (p.Asp928Tyr)
c.2821G>T (p.Asp941Tyr)
c.1559G>T
c.2809G>T (p.Asp937Tyr)
c.700G>T (p.Asp234Tyr)
n.797G>T
n.2422G>T
c.1770G>T
c.843G>T
n.109G>T
12g.6592499C>GCA383588201CHD4c.2803G>C (p.Asp935His)
n.68G>C
c.2842G>C (p.Asp948His)
c.2833G>C (p.Asp945His)
c.2768G>C
c.2782G>C (p.Asp928His)
c.2821G>C (p.Asp941His)
c.1559G>C
c.2809G>C (p.Asp937His)
c.700G>C (p.Asp234His)
n.797G>C
n.2422G>C
c.1770G>C
c.843G>C
n.109G>C
12g.6592499C>TCA383588205CHD4c.2803G>A (p.Asp935Asn)
n.68G>A
c.2842G>A (p.Asp948Asn)
c.2833G>A (p.Asp945Asn)
c.2768G>A
c.2782G>A (p.Asp928Asn)
c.2821G>A (p.Asp941Asn)
c.1559G>A
c.2809G>A (p.Asp937Asn)
c.700G>A (p.Asp234Asn)
n.797G>A
n.2422G>A
c.1770G>A
c.843G>A
n.109G>A
12g.6592500A>CCA383588209CHD4c.2802T>G (p.His934Gln)
n.67T>G
c.2841T>G (p.His947Gln)
c.2832T>G (p.His944Gln)
c.2767T>G
c.2781T>G (p.His927Gln)
c.2820T>G (p.His940Gln)
c.1558T>G
c.2808T>G (p.His936Gln)
c.699T>G (p.His233Gln)
n.796T>G
n.2421T>G
c.1769T>G
c.842T>G
n.108T>G
12g.6592500A>GCA478511218CHD4c.2802T>C (p.His934=)
n.67T>C
c.2841T>C (p.His947=)
c.2832T>C (p.His944=)
c.2767T>C
c.2781T>C (p.His927=)
c.2820T>C (p.His940=)
c.1558T>C
c.2808T>C (p.His936=)
c.699T>C (p.His233=)
n.796T>C
n.2421T>C
c.1769T>C
c.842T>C
n.108T>C
12g.6592500A>TCA383588212CHD4c.2802T>A (p.His934Gln)
n.67T>A
c.2841T>A (p.His947Gln)
c.2832T>A (p.His944Gln)
c.2767T>A
c.2781T>A (p.His927Gln)
c.2820T>A (p.His940Gln)
c.1558T>A
c.2808T>A (p.His936Gln)
c.699T>A (p.His233Gln)
n.796T>A
n.2421T>A
c.1769T>A
c.842T>A
n.108T>A
12g.6592501T>ACA383588217CHD4c.2801A>T (p.His934Leu)
n.66A>T
c.2840A>T (p.His947Leu)
c.2831A>T (p.His944Leu)
c.2766A>T
c.2780A>T (p.His927Leu)
c.2819A>T (p.His940Leu)
c.1557A>T
c.2807A>T (p.His936Leu)
c.698A>T (p.His233Leu)
n.795A>T
n.2420A>T
c.1768A>T
c.841A>T
n.107A>T
12g.6592501T>CCA383588221CHD4c.2801A>G (p.His934Arg)
n.66A>G
c.2840A>G (p.His947Arg)
c.2831A>G (p.His944Arg)
c.2766A>G
c.2780A>G (p.His927Arg)
c.2819A>G (p.His940Arg)
c.1557A>G
c.2807A>G (p.His936Arg)
c.698A>G (p.His233Arg)
n.795A>G
n.2420A>G
c.1768A>G
c.841A>G
n.107A>G
12g.6592501T>GCA383588225CHD4c.2801A>C (p.His934Pro)
n.66A>C
c.2840A>C (p.His947Pro)
c.2831A>C (p.His944Pro)
c.2766A>C
c.2780A>C (p.His927Pro)
c.2819A>C (p.His940Pro)
c.1557A>C
c.2807A>C (p.His936Pro)
c.698A>C (p.His233Pro)
n.795A>C
n.2420A>C
c.1768A>C
c.841A>C
n.107A>C
12g.6592502G>ACA383588227CHD4c.2800C>T (p.His934Tyr)
n.65C>T
c.2839C>T (p.His947Tyr)
c.2830C>T (p.His944Tyr)
c.2765C>T
c.2779C>T (p.His927Tyr)
c.2818C>T (p.His940Tyr)
c.1556C>T
c.2806C>T (p.His936Tyr)
c.697C>T (p.His233Tyr)
n.794C>T
n.2419C>T
c.1767C>T
c.840C>T
n.106C>T
12g.6592502G>CCA383588231CHD4c.2800C>G (p.His934Asp)
n.65C>G
c.2839C>G (p.His947Asp)
c.2830C>G (p.His944Asp)
c.2765C>G
c.2779C>G (p.His927Asp)
c.2818C>G (p.His940Asp)
c.1556C>G
c.2806C>G (p.His936Asp)
c.697C>G (p.His233Asp)
n.794C>G
n.2419C>G
c.1767C>G
c.840C>G
n.106C>G
12g.6592502G>TCA383588233CHD4c.2800C>A (p.His934Asn)
n.65C>A
c.2839C>A (p.His947Asn)
c.2830C>A (p.His944Asn)
c.2765C>A
c.2779C>A (p.His927Asn)
c.2818C>A (p.His940Asn)
c.1556C>A
c.2806C>A (p.His936Asn)
c.697C>A (p.His233Asn)
n.794C>A
n.2419C>A
c.1767C>A
c.840C>A
n.106C>A
12g.6592503C>ACA478511220CHD4c.2799G>T (p.Leu933=)
n.64G>T
c.2838G>T (p.Leu946=)
c.2829G>T (p.Leu943=)
c.2764G>T
c.2778G>T (p.Leu926=)
c.2817G>T (p.Leu939=)
c.1555G>T
c.2805G>T (p.Leu935=)
c.696G>T (p.Leu232=)
n.793G>T
n.2418G>T
c.1766G>T
c.839G>T
n.105G>T
12g.6592503C=CA2014148582CHD4c.2799G= (p.Leu933=)
n.64G=
c.2838G= (p.Leu946=)
c.2829G= (p.Leu943=)
c.2764G=
c.2778G= (p.Leu926=)
c.2817G= (p.Leu939=)
c.1555G=
c.2805G= (p.Leu935=)
c.696G= (p.Leu232=)
n.793G=
n.2418G=
c.1766G=
c.839G=
n.105G=
12g.6592503C>GCA478511219CHD4c.2799G>C (p.Leu933=)
n.64G>C
c.2838G>C (p.Leu946=)
c.2829G>C (p.Leu943=)
c.2764G>C
c.2778G>C (p.Leu926=)
c.2817G>C (p.Leu939=)
c.1555G>C
c.2805G>C (p.Leu935=)
c.696G>C (p.Leu232=)
n.793G>C
n.2418G>C
c.1766G>C
c.839G>C
n.105G>C
 gnomAD v4
12g.6592503C>TCA6411890CHD4c.2799G>A (p.Leu933=)
n.64G>A
c.2838G>A (p.Leu946=)
c.2829G>A (p.Leu943=)
c.2764G>A
c.2778G>A (p.Leu926=)
c.2817G>A (p.Leu939=)
c.1555G>A
c.2805G>A (p.Leu935=)
c.696G>A (p.Leu232=)
n.793G>A
n.2418G>A
c.1766G>A
c.839G>A
n.105G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6592504A>CCA383588247CHD4c.2798T>G (p.Leu933Arg)
n.63T>G
c.2837T>G (p.Leu946Arg)
c.2828T>G (p.Leu943Arg)
c.2763T>G
c.2777T>G (p.Leu926Arg)
c.2816T>G (p.Leu939Arg)
c.1554T>G
c.2804T>G (p.Leu935Arg)
c.695T>G (p.Leu232Arg)
n.792T>G
n.2417T>G
c.1765T>G
c.838T>G
n.104T>G
12g.6592504A>GCA383588241CHD4c.2798T>C (p.Leu933Pro)
n.63T>C
c.2837T>C (p.Leu946Pro)
c.2828T>C (p.Leu943Pro)
c.2763T>C
c.2777T>C (p.Leu926Pro)
c.2816T>C (p.Leu939Pro)
c.1554T>C
c.2804T>C (p.Leu935Pro)
c.695T>C (p.Leu232Pro)
n.792T>C
n.2417T>C
c.1765T>C
c.838T>C
n.104T>C
12g.6592504A>TCA383588244CHD4c.2798T>A (p.Leu933Gln)
n.63T>A
c.2837T>A (p.Leu946Gln)
c.2828T>A (p.Leu943Gln)
c.2763T>A
c.2777T>A (p.Leu926Gln)
c.2816T>A (p.Leu939Gln)
c.1554T>A
c.2804T>A (p.Leu935Gln)
c.695T>A (p.Leu232Gln)
n.792T>A
n.2417T>A
c.1765T>A
c.838T>A
n.104T>A
12g.6592504_6592505insTCA645570861CHD4c.2797_2798insA (p.Leu933HisfsTer3)
n.62_63insA
c.2836_2837insA (p.Leu946HisfsTer3)
c.2827_2828insA (p.Leu943HisfsTer3)
c.2762_2763insA
c.2776_2777insA (p.Leu926HisfsTer3)
c.2815_2816insA (p.Leu939HisfsTer3)
c.1553_1554insA
c.2803_2804insA (p.Leu935HisfsTer3)
c.694_695insA (p.Leu232HisfsTer3)
n.791_792insA
n.2416_2417insA
c.1764_1765insA
c.837_838insA
n.103_104insA
 COSMIC COSMIC COSMIC
12g.6592505G>ACA478511221CHD4c.2797C>T (p.Leu933=)
n.62C>T
c.2836C>T (p.Leu946=)
c.2827C>T (p.Leu943=)
c.2762C>T
c.2776C>T (p.Leu926=)
c.2815C>T (p.Leu939=)
c.1553C>T
c.2803C>T (p.Leu935=)
c.694C>T (p.Leu232=)
n.791C>T
n.2416C>T
c.1764C>T
c.837C>T
n.103C>T
12g.6592505G>CCA383588251CHD4c.2797C>G (p.Leu933Val)
n.62C>G
c.2836C>G (p.Leu946Val)
c.2827C>G (p.Leu943Val)
c.2762C>G
c.2776C>G (p.Leu926Val)
c.2815C>G (p.Leu939Val)
c.1553C>G
c.2803C>G (p.Leu935Val)
c.694C>G (p.Leu232Val)
n.791C>G
n.2416C>G
c.1764C>G
c.837C>G
n.103C>G
12g.6592505G>TCA383588254CHD4c.2797C>A (p.Leu933Met)
n.62C>A
c.2836C>A (p.Leu946Met)
c.2827C>A (p.Leu943Met)
c.2762C>A
c.2776C>A (p.Leu926Met)
c.2815C>A (p.Leu939Met)
c.1553C>A
c.2803C>A (p.Leu935Met)
c.694C>A (p.Leu232Met)
n.791C>A
n.2416C>A
c.1764C>A
c.837C>A
n.103C>A
12g.6592506T>ACA383588259CHD4c.2796A>T (p.Lys932Asn)
n.61A>T
c.2835A>T (p.Lys945Asn)
c.2826A>T (p.Lys942Asn)
c.2761A>T
c.2775A>T (p.Lys925Asn)
c.2814A>T (p.Lys938Asn)
c.1552A>T
c.2802A>T (p.Lys934Asn)
c.693A>T (p.Lys231Asn)
n.790A>T
n.2415A>T
c.1763A>T
c.836A>T
n.102A>T
12g.6592506T>CCA478511222CHD4c.2796A>G (p.Lys932=)
n.61A>G
c.2835A>G (p.Lys945=)
c.2826A>G (p.Lys942=)
c.2761A>G
c.2775A>G (p.Lys925=)
c.2814A>G (p.Lys938=)
c.1552A>G
c.2802A>G (p.Lys934=)
c.693A>G (p.Lys231=)
n.790A>G
n.2415A>G
c.1763A>G
c.836A>G
n.102A>G
 dbSNP
12g.6592506T>GCA383588262CHD4c.2796A>C (p.Lys932Asn)
n.61A>C
c.2835A>C (p.Lys945Asn)
c.2826A>C (p.Lys942Asn)
c.2761A>C
c.2775A>C (p.Lys925Asn)
c.2814A>C (p.Lys938Asn)
c.1552A>C
c.2802A>C (p.Lys934Asn)
c.693A>C (p.Lys231Asn)
n.790A>C
n.2415A>C
c.1763A>C
c.836A>C
n.102A>C
12g.6592506T=CA2014148587CHD4c.2796A= (p.Lys932=)
n.61A=
c.2835A= (p.Lys945=)
c.2826A= (p.Lys942=)
c.2761A=
c.2775A= (p.Lys925=)
c.2814A= (p.Lys938=)
c.1552A=
c.2802A= (p.Lys934=)
c.693A= (p.Lys231=)
n.790A=
n.2415A=
c.1763A=
c.836A=
n.102A=
12g.6592512dupCA645570862CHD4c.2796dup (p.Leu933ThrfsTer3)
n.61dup
c.2835dup (p.Leu946ThrfsTer3)
c.2826dup (p.Leu943ThrfsTer3)
c.2761dup
c.2775dup (p.Leu926ThrfsTer3)
c.2814dup (p.Leu939ThrfsTer3)
c.1552dup
c.2802dup (p.Leu935ThrfsTer3)
c.693dup (p.Leu232ThrfsTer3)
n.790dup
n.2415dup
c.1763dup
c.836dup
n.102dup
 gnomAD v4 COSMIC COSMIC COSMIC
12g.6592512delCA478511223CHD4c.2796del (p.Lys932AsnfsTer28)
n.61del
c.2835del (p.Lys945AsnfsTer28)
c.2826del (p.Lys942AsnfsTer28)
c.2761del
c.2775del (p.Lys925AsnfsTer28)
c.2814del (p.Lys938AsnfsTer28)
c.1552del
c.2802del (p.Lys934AsnfsTer28)
c.693del (p.Lys231AsnfsTer28)
n.790del
n.2415del
c.1763del
c.836del
n.102del
 gnomAD v4
12g.6592507T>ACA383588272CHD4c.2795A>T (p.Lys932Ile)
n.60A>T
c.2834A>T (p.Lys945Ile)
c.2825A>T (p.Lys942Ile)
c.2760A>T
c.2774A>T (p.Lys925Ile)
c.2813A>T (p.Lys938Ile)
c.1551A>T
c.2801A>T (p.Lys934Ile)
c.692A>T (p.Lys231Ile)
n.789A>T
n.2414A>T
c.1762A>T
c.835A>T
n.101A>T
12g.6592507T>CCA383588267CHD4c.2795A>G (p.Lys932Arg)
n.60A>G
c.2834A>G (p.Lys945Arg)
c.2825A>G (p.Lys942Arg)
c.2760A>G
c.2774A>G (p.Lys925Arg)
c.2813A>G (p.Lys938Arg)
c.1551A>G
c.2801A>G (p.Lys934Arg)
c.692A>G (p.Lys231Arg)
n.789A>G
n.2414A>G
c.1762A>G
c.835A>G
n.101A>G
12g.6592507T>GCA383588271CHD4c.2795A>C (p.Lys932Thr)
n.60A>C
c.2834A>C (p.Lys945Thr)
c.2825A>C (p.Lys942Thr)
c.2760A>C
c.2774A>C (p.Lys925Thr)
c.2813A>C (p.Lys938Thr)
c.1551A>C
c.2801A>C (p.Lys934Thr)
c.692A>C (p.Lys231Thr)
n.789A>C
n.2414A>C
c.1762A>C
c.835A>C
n.101A>C
12g.6592508T>ACA383588276CHD4c.2794A>T (p.Lys932Ter)
n.59A>T
c.2833A>T (p.Lys945Ter)
c.2824A>T (p.Lys942Ter)
c.2759A>T
c.2773A>T (p.Lys925Ter)
c.2812A>T (p.Lys938Ter)
c.1550A>T
c.2800A>T (p.Lys934Ter)
c.691A>T (p.Lys231Ter)
n.788A>T
n.2413A>T
c.1761A>T
c.834A>T
n.100A>T
12g.6592508T>CCA383588277CHD4c.2794A>G (p.Lys932Glu)
n.59A>G
c.2833A>G (p.Lys945Glu)
c.2824A>G (p.Lys942Glu)
c.2759A>G
c.2773A>G (p.Lys925Glu)
c.2812A>G (p.Lys938Glu)
c.1550A>G
c.2800A>G (p.Lys934Glu)
c.691A>G (p.Lys231Glu)
n.788A>G
n.2413A>G
c.1761A>G
c.834A>G
n.100A>G
12g.6592508T>GCA383588280CHD4c.2794A>C (p.Lys932Gln)
n.59A>C
c.2833A>C (p.Lys945Gln)
c.2824A>C (p.Lys942Gln)
c.2759A>C
c.2773A>C (p.Lys925Gln)
c.2812A>C (p.Lys938Gln)
c.1550A>C
c.2800A>C (p.Lys934Gln)
c.691A>C (p.Lys231Gln)
n.788A>C
n.2413A>C
c.1761A>C
c.834A>C
n.100A>C
12g.6592509T>ACA383588284CHD4c.2793A>T (p.Lys931Asn)
n.58A>T
c.2832A>T (p.Lys944Asn)
c.2823A>T (p.Lys941Asn)
c.2758A>T
c.2772A>T (p.Lys924Asn)
c.2811A>T (p.Lys937Asn)
c.1549A>T
c.2799A>T (p.Lys933Asn)
c.690A>T (p.Lys230Asn)
n.787A>T
n.2412A>T
c.1760A>T
c.833A>T
n.99A>T
12g.6592509T>CCA478511224CHD4c.2793A>G (p.Lys931=)
n.58A>G
c.2832A>G (p.Lys944=)
c.2823A>G (p.Lys941=)
c.2758A>G
c.2772A>G (p.Lys924=)
c.2811A>G (p.Lys937=)
c.1549A>G
c.2799A>G (p.Lys933=)
c.690A>G (p.Lys230=)
n.787A>G
n.2412A>G
c.1760A>G
c.833A>G
n.99A>G
12g.6592509T>GCA383588287CHD4c.2793A>C (p.Lys931Asn)
n.58A>C
c.2832A>C (p.Lys944Asn)
c.2823A>C (p.Lys941Asn)
c.2758A>C
c.2772A>C (p.Lys924Asn)
c.2811A>C (p.Lys937Asn)
c.1549A>C
c.2799A>C (p.Lys933Asn)
c.690A>C (p.Lys230Asn)
n.787A>C
n.2412A>C
c.1760A>C
c.833A>C
n.99A>C
12g.6592510T>ACA383588291CHD4c.2792A>T (p.Lys931Ile)
n.57A>T
c.2831A>T (p.Lys944Ile)
c.2822A>T (p.Lys941Ile)
c.2757A>T
c.2771A>T (p.Lys924Ile)
c.2810A>T (p.Lys937Ile)
c.1548A>T
c.2798A>T (p.Lys933Ile)
c.689A>T (p.Lys230Ile)
n.786A>T
n.2411A>T
c.1759A>T
c.832A>T
n.98A>T
12g.6592510T>CCA383588295CHD4c.2792A>G (p.Lys931Arg)
n.57A>G
c.2831A>G (p.Lys944Arg)
c.2822A>G (p.Lys941Arg)
c.2757A>G
c.2771A>G (p.Lys924Arg)
c.2810A>G (p.Lys937Arg)
c.1548A>G
c.2798A>G (p.Lys933Arg)
c.689A>G (p.Lys230Arg)
n.786A>G
n.2411A>G
c.1759A>G
c.832A>G
n.98A>G
12g.6592510T>GCA383588294CHD4c.2792A>C (p.Lys931Thr)
n.57A>C
c.2831A>C (p.Lys944Thr)
c.2822A>C (p.Lys941Thr)
c.2757A>C
c.2771A>C (p.Lys924Thr)
c.2810A>C (p.Lys937Thr)
c.1548A>C
c.2798A>C (p.Lys933Thr)
c.689A>C (p.Lys230Thr)
n.786A>C
n.2411A>C
c.1759A>C
c.832A>C
n.98A>C
12g.6592511T>ACA383588300CHD4c.2791A>T (p.Lys931Ter)
n.56A>T
c.2830A>T (p.Lys944Ter)
c.2821A>T (p.Lys941Ter)
c.2756A>T
c.2770A>T (p.Lys924Ter)
c.2809A>T (p.Lys937Ter)
c.1547A>T
c.2797A>T (p.Lys933Ter)
c.688A>T (p.Lys230Ter)
n.785A>T
n.2410A>T
c.1758A>T
c.831A>T
n.97A>T
12g.6592511T>CCA383588303CHD4c.2791A>G (p.Lys931Glu)
n.56A>G
c.2830A>G (p.Lys944Glu)
c.2821A>G (p.Lys941Glu)
c.2756A>G
c.2770A>G (p.Lys924Glu)
c.2809A>G (p.Lys937Glu)
c.1547A>G
c.2797A>G (p.Lys933Glu)
c.688A>G (p.Lys230Glu)
n.785A>G
n.2410A>G
c.1758A>G
c.831A>G
n.97A>G
12g.6592511T>GCA383588305CHD4c.2791A>C (p.Lys931Gln)
n.56A>C
c.2830A>C (p.Lys944Gln)
c.2821A>C (p.Lys941Gln)
c.2756A>C
c.2770A>C (p.Lys924Gln)
c.2809A>C (p.Lys937Gln)
c.1547A>C
c.2797A>C (p.Lys933Gln)
c.688A>C (p.Lys230Gln)
n.785A>C
n.2410A>C
c.1758A>C
c.831A>C
n.97A>C
12g.6592512T>ACA6411891CHD4c.2790A>T (p.Ile930=)
n.55A>T
c.2829A>T (p.Ile943=)
c.2820A>T (p.Ile940=)
c.2755A>T
c.2769A>T (p.Ile923=)
c.2808A>T (p.Ile936=)
c.1546A>T
c.2796A>T (p.Ile932=)
c.687A>T (p.Ile229=)
n.784A>T
n.2409A>T
c.1757A>T
c.830A>T
n.96A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592512T>CCA383588311CHD4c.2790A>G (p.Ile930Met)
n.55A>G
c.2829A>G (p.Ile943Met)
c.2820A>G (p.Ile940Met)
c.2755A>G
c.2769A>G (p.Ile923Met)
c.2808A>G (p.Ile936Met)
c.1546A>G
c.2796A>G (p.Ile932Met)
c.687A>G (p.Ile229Met)
n.784A>G
n.2409A>G
c.1757A>G
c.830A>G
n.96A>G
12g.6592512T>GCA478511225CHD4c.2790A>C (p.Ile930=)
n.55A>C
c.2829A>C (p.Ile943=)
c.2820A>C (p.Ile940=)
c.2755A>C
c.2769A>C (p.Ile923=)
c.2808A>C (p.Ile936=)
c.1546A>C
c.2796A>C (p.Ile932=)
c.687A>C (p.Ile229=)
n.784A>C
n.2409A>C
c.1757A>C
c.830A>C
n.96A>C
12g.6592512T=CA2014148592CHD4c.2790A= (p.Ile930=)
n.55A=
c.2829A= (p.Ile943=)
c.2820A= (p.Ile940=)
c.2755A=
c.2769A= (p.Ile923=)
c.2808A= (p.Ile936=)
c.1546A=
c.2796A= (p.Ile932=)
c.687A= (p.Ile229=)
n.784A=
n.2409A=
c.1757A=
c.830A=
n.96A=
12g.6592513A>CCA383588316CHD4c.2789T>G (p.Ile930Arg)
n.54T>G
c.2828T>G (p.Ile943Arg)
c.2819T>G (p.Ile940Arg)
c.2754T>G
c.2768T>G (p.Ile923Arg)
c.2807T>G (p.Ile936Arg)
c.1545T>G
c.2795T>G (p.Ile932Arg)
c.686T>G (p.Ile229Arg)
n.783T>G
n.2408T>G
c.1756T>G
c.829T>G
n.95T>G
12g.6592513A>GCA383588319CHD4c.2789T>C (p.Ile930Thr)
n.54T>C
c.2828T>C (p.Ile943Thr)
c.2819T>C (p.Ile940Thr)
c.2754T>C
c.2768T>C (p.Ile923Thr)
c.2807T>C (p.Ile936Thr)
c.1545T>C
c.2795T>C (p.Ile932Thr)
c.686T>C (p.Ile229Thr)
n.783T>C
n.2408T>C
c.1756T>C
c.829T>C
n.95T>C
12g.6592513A>TCA383588322CHD4c.2789T>A (p.Ile930Lys)
n.54T>A
c.2828T>A (p.Ile943Lys)
c.2819T>A (p.Ile940Lys)
c.2754T>A
c.2768T>A (p.Ile923Lys)
c.2807T>A (p.Ile936Lys)
c.1545T>A
c.2795T>A (p.Ile932Lys)
c.686T>A (p.Ile229Lys)
n.783T>A
n.2408T>A
c.1756T>A
c.829T>A
n.95T>A
12g.6592514T>ACA383588325CHD4c.2788A>T (p.Ile930Leu)
n.53A>T
c.2827A>T (p.Ile943Leu)
c.2818A>T (p.Ile940Leu)
c.2753A>T
c.2767A>T (p.Ile923Leu)
c.2806A>T (p.Ile936Leu)
c.1544A>T
c.2794A>T (p.Ile932Leu)
c.685A>T (p.Ile229Leu)
n.782A>T
n.2407A>T
c.1755A>T
c.828A>T
n.94A>T
12g.6592514T>CCA383588328CHD4c.2788A>G (p.Ile930Val)
n.53A>G
c.2827A>G (p.Ile943Val)
c.2818A>G (p.Ile940Val)
c.2753A>G
c.2767A>G (p.Ile923Val)
c.2806A>G (p.Ile936Val)
c.1544A>G
c.2794A>G (p.Ile932Val)
c.685A>G (p.Ile229Val)
n.782A>G
n.2407A>G
c.1755A>G
c.828A>G
n.94A>G
12g.6592514T>GCA383588330CHD4c.2788A>C (p.Ile930Leu)
n.53A>C
c.2827A>C (p.Ile943Leu)
c.2818A>C (p.Ile940Leu)
c.2753A>C
c.2767A>C (p.Ile923Leu)
c.2806A>C (p.Ile936Leu)
c.1544A>C
c.2794A>C (p.Ile932Leu)
c.685A>C (p.Ile229Leu)
n.782A>C
n.2407A>C
c.1755A>C
c.828A>C
n.94A>C
12g.6592515C>ACA383588334CHD4c.2787G>T (p.Gln929His)
n.52G>T
c.2826G>T (p.Gln942His)
c.2817G>T (p.Gln939His)
c.2752G>T
c.2766G>T (p.Gln922His)
c.2805G>T (p.Gln935His)
c.1543G>T
c.2793G>T (p.Gln931His)
c.684G>T (p.Gln228His)
n.781G>T
n.2406G>T
c.1754G>T
c.827G>T
n.93G>T
12g.6592515C>GCA383588337CHD4c.2787G>C (p.Gln929His)
n.52G>C
c.2826G>C (p.Gln942His)
c.2817G>C (p.Gln939His)
c.2752G>C
c.2766G>C (p.Gln922His)
c.2805G>C (p.Gln935His)
c.1543G>C
c.2793G>C (p.Gln931His)
c.684G>C (p.Gln228His)
n.781G>C
n.2406G>C
c.1754G>C
c.827G>C
n.93G>C
12g.6592515C>TCA478511226CHD4c.2787G>A (p.Gln929=)
n.52G>A
c.2826G>A (p.Gln942=)
c.2817G>A (p.Gln939=)
c.2752G>A
c.2766G>A (p.Gln922=)
c.2805G>A (p.Gln935=)
c.1543G>A
c.2793G>A (p.Gln931=)
c.684G>A (p.Gln228=)
n.781G>A
n.2406G>A
c.1754G>A
c.827G>A
n.93G>A
12g.6592516T>ACA383588342CHD4c.2786A>T (p.Gln929Leu)
n.51A>T
c.2825A>T (p.Gln942Leu)
c.2816A>T (p.Gln939Leu)
c.2751A>T
c.2765A>T (p.Gln922Leu)
c.2804A>T (p.Gln935Leu)
c.1542A>T
c.2792A>T (p.Gln931Leu)
c.683A>T (p.Gln228Leu)
n.780A>T
n.2405A>T
c.1753A>T
c.826A>T
n.92A>T
12g.6592516T>CCA383588347CHD4c.2786A>G (p.Gln929Arg)
n.51A>G
c.2825A>G (p.Gln942Arg)
c.2816A>G (p.Gln939Arg)
c.2751A>G
c.2765A>G (p.Gln922Arg)
c.2804A>G (p.Gln935Arg)
c.1542A>G
c.2792A>G (p.Gln931Arg)
c.683A>G (p.Gln228Arg)
n.780A>G
n.2405A>G
c.1753A>G
c.826A>G
n.92A>G
 gnomAD v4
12g.6592516T>GCA383588344CHD4c.2786A>C (p.Gln929Pro)
n.51A>C
c.2825A>C (p.Gln942Pro)
c.2816A>C (p.Gln939Pro)
c.2751A>C
c.2765A>C (p.Gln922Pro)
c.2804A>C (p.Gln935Pro)
c.1542A>C
c.2792A>C (p.Gln931Pro)
c.683A>C (p.Gln228Pro)
n.780A>C
n.2405A>C
c.1753A>C
c.826A>C
n.92A>C
12g.6592517G>ACA383588352CHD4c.2785C>T (p.Gln929Ter)
n.50C>T
c.2824C>T (p.Gln942Ter)
c.2815C>T (p.Gln939Ter)
c.2750C>T
c.2764C>T (p.Gln922Ter)
c.2803C>T (p.Gln935Ter)
c.1541C>T
c.2791C>T (p.Gln931Ter)
c.682C>T (p.Gln228Ter)
n.779C>T
n.2404C>T
c.1752C>T
c.825C>T
n.91C>T
12g.6592517G>CCA383588354CHD4c.2785C>G (p.Gln929Glu)
n.50C>G
c.2824C>G (p.Gln942Glu)
c.2815C>G (p.Gln939Glu)
c.2750C>G
c.2764C>G (p.Gln922Glu)
c.2803C>G (p.Gln935Glu)
c.1541C>G
c.2791C>G (p.Gln931Glu)
c.682C>G (p.Gln228Glu)
n.779C>G
n.2404C>G
c.1752C>G
c.825C>G
n.91C>G
12g.6592517G>TCA383588357CHD4c.2785C>A (p.Gln929Lys)
n.50C>A
c.2824C>A (p.Gln942Lys)
c.2815C>A (p.Gln939Lys)
c.2750C>A
c.2764C>A (p.Gln922Lys)
c.2803C>A (p.Gln935Lys)
c.1541C>A
c.2791C>A (p.Gln931Lys)
c.682C>A (p.Gln228Lys)
n.779C>A
n.2404C>A
c.1752C>A
c.825C>A
n.91C>A
12g.6592518G>ACA6411892CHD4c.2784C>T (p.Asp928=)
n.49C>T
c.2823C>T (p.Asp941=)
c.2814C>T (p.Asp938=)
c.2749C>T
c.2763C>T (p.Asp921=)
c.2802C>T (p.Asp934=)
c.1540C>T
c.2790C>T (p.Asp930=)
c.681C>T (p.Asp227=)
n.778C>T
n.2403C>T
c.1751C>T
c.824C>T
n.90C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6592518G>CCA383588361CHD4c.2784C>G (p.Asp928Glu)
n.49C>G
c.2823C>G (p.Asp941Glu)
c.2814C>G (p.Asp938Glu)
c.2749C>G
c.2763C>G (p.Asp921Glu)
c.2802C>G (p.Asp934Glu)
c.1540C>G
c.2790C>G (p.Asp930Glu)
c.681C>G (p.Asp227Glu)
n.778C>G
n.2403C>G
c.1751C>G
c.824C>G
n.90C>G
12g.6592518G=CA2014148595CHD4c.2784C= (p.Asp928=)
n.49C=
c.2823C= (p.Asp941=)
c.2814C= (p.Asp938=)
c.2749C=
c.2763C= (p.Asp921=)
c.2802C= (p.Asp934=)
c.1540C=
c.2790C= (p.Asp930=)
c.681C= (p.Asp227=)
n.778C=
n.2403C=
c.1751C=
c.824C=
n.90C=
12g.6592518G>TCA383588365CHD4c.2784C>A (p.Asp928Glu)
n.49C>A
c.2823C>A (p.Asp941Glu)
c.2814C>A (p.Asp938Glu)
c.2749C>A
c.2763C>A (p.Asp921Glu)
c.2802C>A (p.Asp934Glu)
c.1540C>A
c.2790C>A (p.Asp930Glu)
c.681C>A (p.Asp227Glu)
n.778C>A
n.2403C>A
c.1751C>A
c.824C>A
n.90C>A
12g.6592519T>ACA383588368CHD4c.2783A>T (p.Asp928Val)
n.48A>T
c.2822A>T (p.Asp941Val)
c.2813A>T (p.Asp938Val)
c.2748A>T
c.2762A>T (p.Asp921Val)
c.2801A>T (p.Asp934Val)
c.1539A>T
c.2789A>T (p.Asp930Val)
c.680A>T (p.Asp227Val)
n.777A>T
n.2402A>T
c.1750A>T
c.823A>T
n.89A>T
12g.6592519T>CCA383588370CHD4c.2783A>G (p.Asp928Gly)
n.48A>G
c.2822A>G (p.Asp941Gly)
c.2813A>G (p.Asp938Gly)
c.2748A>G
c.2762A>G (p.Asp921Gly)
c.2801A>G (p.Asp934Gly)
c.1539A>G
c.2789A>G (p.Asp930Gly)
c.680A>G (p.Asp227Gly)
n.777A>G
n.2402A>G
c.1750A>G
c.823A>G
n.89A>G
12g.6592519T>GCA383588372CHD4c.2783A>C (p.Asp928Ala)
n.48A>C
c.2822A>C (p.Asp941Ala)
c.2813A>C (p.Asp938Ala)
c.2748A>C
c.2762A>C (p.Asp921Ala)
c.2801A>C (p.Asp934Ala)
c.1539A>C
c.2789A>C (p.Asp930Ala)
c.680A>C (p.Asp227Ala)
n.777A>C
n.2402A>C
c.1750A>C
c.823A>C
n.89A>C
12g.6592520C>ACA383588378CHD4c.2782G>T (p.Asp928Tyr)
n.47G>T
c.2821G>T (p.Asp941Tyr)
c.2812G>T (p.Asp938Tyr)
c.2747G>T
c.2761G>T (p.Asp921Tyr)
c.2800G>T (p.Asp934Tyr)
c.1538G>T
c.2788G>T (p.Asp930Tyr)
c.679G>T (p.Asp227Tyr)
n.776G>T
n.2401G>T
c.1749G>T
c.822G>T
n.88G>T
12g.6592520C>GCA383588381CHD4c.2782G>C (p.Asp928His)
n.47G>C
c.2821G>C (p.Asp941His)
c.2812G>C (p.Asp938His)
c.2747G>C
c.2761G>C (p.Asp921His)
c.2800G>C (p.Asp934His)
c.1538G>C
c.2788G>C (p.Asp930His)
c.679G>C (p.Asp227His)
n.776G>C
n.2401G>C
c.1749G>C
c.822G>C
n.88G>C
12g.6592520C>TCA383588383CHD4c.2782G>A (p.Asp928Asn)
n.47G>A
c.2821G>A (p.Asp941Asn)
c.2812G>A (p.Asp938Asn)
c.2747G>A
c.2761G>A (p.Asp921Asn)
c.2800G>A (p.Asp934Asn)
c.1538G>A
c.2788G>A (p.Asp930Asn)
c.679G>A (p.Asp227Asn)
n.776G>A
n.2401G>A
c.1749G>A
c.822G>A
n.88G>A
12g.6592521C>ACA383588387CHD4c.2781G>T (p.Glu927Asp)
n.46G>T
c.2820G>T (p.Glu940Asp)
c.2811G>T (p.Glu937Asp)
c.2746G>T
c.2760G>T (p.Glu920Asp)
c.2799G>T (p.Glu933Asp)
c.1537G>T
c.2787G>T (p.Glu929Asp)
c.678G>T (p.Glu226Asp)
n.775G>T
n.2400G>T
c.1748G>T
c.821G>T
n.87G>T
12g.6592521C=CA2014148598CHD4c.2781G= (p.Glu927=)
n.46G=
c.2820G= (p.Glu940=)
c.2811G= (p.Glu937=)
c.2746G=
c.2760G= (p.Glu920=)
c.2799G= (p.Glu933=)
c.1537G=
c.2787G= (p.Glu929=)
c.678G= (p.Glu226=)
n.775G=
n.2400G=
c.1748G=
c.821G=
n.87G=
12g.6592521C>GCA383588390CHD4c.2781G>C (p.Glu927Asp)
n.46G>C
c.2820G>C (p.Glu940Asp)
c.2811G>C (p.Glu937Asp)
c.2746G>C
c.2760G>C (p.Glu920Asp)
c.2799G>C (p.Glu933Asp)
c.1537G>C
c.2787G>C (p.Glu929Asp)
c.678G>C (p.Glu226Asp)
n.775G>C
n.2400G>C
c.1748G>C
c.821G>C
n.87G>C
12g.6592521C>TCA478511227CHD4c.2781G>A (p.Glu927=)
n.46G>A
c.2820G>A (p.Glu940=)
c.2811G>A (p.Glu937=)
c.2746G>A
c.2760G>A (p.Glu920=)
c.2799G>A (p.Glu933=)
c.1537G>A
c.2787G>A (p.Glu929=)
c.678G>A (p.Glu226=)
n.775G>A
n.2400G>A
c.1748G>A
c.821G>A
n.87G>A
 dbSNP gnomAD v4
12g.6592522T>ACA383588394CHD4c.2780A>T (p.Glu927Val)
n.45A>T
c.2819A>T (p.Glu940Val)
c.2810A>T (p.Glu937Val)
c.2745A>T
c.2759A>T (p.Glu920Val)
c.2798A>T (p.Glu933Val)
c.1536A>T
c.2786A>T (p.Glu929Val)
c.677A>T (p.Glu226Val)
n.774A>T
n.2399A>T
c.1747A>T
c.820A>T
n.86A>T
12g.6592522T>CCA383588398CHD4c.2780A>G (p.Glu927Gly)
n.45A>G
c.2819A>G (p.Glu940Gly)
c.2810A>G (p.Glu937Gly)
c.2745A>G
c.2759A>G (p.Glu920Gly)
c.2798A>G (p.Glu933Gly)
c.1536A>G
c.2786A>G (p.Glu929Gly)
c.677A>G (p.Glu226Gly)
n.774A>G
n.2399A>G
c.1747A>G
c.820A>G
n.86A>G
12g.6592522T>GCA383588399CHD4c.2780A>C (p.Glu927Ala)
n.45A>C
c.2819A>C (p.Glu940Ala)
c.2810A>C (p.Glu937Ala)
c.2745A>C
c.2759A>C (p.Glu920Ala)
c.2798A>C (p.Glu933Ala)
c.1536A>C
c.2786A>C (p.Glu929Ala)
c.677A>C (p.Glu226Ala)
n.774A>C
n.2399A>C
c.1747A>C
c.820A>C
n.86A>C
12g.6592523C>ACA383588403CHD4c.2779G>T (p.Glu927Ter)
n.44G>T
c.2818G>T (p.Glu940Ter)
c.2809G>T (p.Glu937Ter)
c.2744G>T
c.2758G>T (p.Glu920Ter)
c.2797G>T (p.Glu933Ter)
c.1535G>T
c.2785G>T (p.Glu929Ter)
c.676G>T (p.Glu226Ter)
n.773G>T
n.2398G>T
c.1746G>T
c.819G>T
n.85G>T
12g.6592523C=CA2014148601CHD4c.2779G= (p.Glu927=)
n.44G=
c.2818G= (p.Glu940=)
c.2809G= (p.Glu937=)
c.2744G=
c.2758G= (p.Glu920=)
c.2797G= (p.Glu933=)
c.1535G=
c.2785G= (p.Glu929=)
c.676G= (p.Glu226=)
n.773G=
n.2398G=
c.1746G=
c.819G=
n.85G=
12g.6592523C>GCA383588404CHD4c.2779G>C (p.Glu927Gln)
n.44G>C
c.2818G>C (p.Glu940Gln)
c.2809G>C (p.Glu937Gln)
c.2744G>C
c.2758G>C (p.Glu920Gln)
c.2797G>C (p.Glu933Gln)
c.1535G>C
c.2785G>C (p.Glu929Gln)
c.676G>C (p.Glu226Gln)
n.773G>C
n.2398G>C
c.1746G>C
c.819G>C
n.85G>C
12g.6592523C>TCA383588407CHD4c.2779G>A (p.Glu927Lys)
n.44G>A
c.2818G>A (p.Glu940Lys)
c.2809G>A (p.Glu937Lys)
c.2744G>A
c.2758G>A (p.Glu920Lys)
c.2797G>A (p.Glu933Lys)
c.1535G>A
c.2785G>A (p.Glu929Lys)
c.676G>A (p.Glu226Lys)
n.773G>A
n.2398G>A
c.1746G>A
c.819G>A
n.85G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6592524C>ACA383588410CHD4c.2778G>T (p.Lys926Asn)
n.43G>T
c.2817G>T (p.Lys939Asn)
c.2808G>T (p.Lys936Asn)
c.2743G>T
c.2757G>T (p.Lys919Asn)
c.2796G>T (p.Lys932Asn)
c.1534G>T
c.2784G>T (p.Lys928Asn)
c.675G>T (p.Lys225Asn)
n.772G>T
n.2397G>T
c.1745G>T
c.818G>T
n.84G>T
12g.6592524C>GCA383588413CHD4c.2778G>C (p.Lys926Asn)
n.43G>C
c.2817G>C (p.Lys939Asn)
c.2808G>C (p.Lys936Asn)
c.2743G>C
c.2757G>C (p.Lys919Asn)
c.2796G>C (p.Lys932Asn)
c.1534G>C
c.2784G>C (p.Lys928Asn)
c.675G>C (p.Lys225Asn)
n.772G>C
n.2397G>C
c.1745G>C
c.818G>C
n.84G>C
12g.6592524C>TCA478511228CHD4c.2778G>A (p.Lys926=)
n.43G>A
c.2817G>A (p.Lys939=)
c.2808G>A (p.Lys936=)
c.2743G>A
c.2757G>A (p.Lys919=)
c.2796G>A (p.Lys932=)
c.1534G>A
c.2784G>A (p.Lys928=)
c.675G>A (p.Lys225=)
n.772G>A
n.2397G>A
c.1745G>A
c.818G>A
n.84G>A
12g.6592525T>ACA383588417CHD4c.2777A>T (p.Lys926Met)
n.42A>T
c.2816A>T (p.Lys939Met)
c.2807A>T (p.Lys936Met)
c.2742A>T
c.2756A>T (p.Lys919Met)
c.2795A>T (p.Lys932Met)
c.1533A>T
c.2783A>T (p.Lys928Met)
c.674A>T (p.Lys225Met)
n.771A>T
n.2396A>T
c.1744A>T
c.817A>T
n.83A>T
12g.6592525T>CCA383588419CHD4c.2777A>G (p.Lys926Arg)
n.42A>G
c.2816A>G (p.Lys939Arg)
c.2807A>G (p.Lys936Arg)
c.2742A>G
c.2756A>G (p.Lys919Arg)
c.2795A>G (p.Lys932Arg)
c.1533A>G
c.2783A>G (p.Lys928Arg)
c.674A>G (p.Lys225Arg)
n.771A>G
n.2396A>G
c.1744A>G
c.817A>G
n.83A>G
12g.6592525T>GCA383588422CHD4c.2777A>C (p.Lys926Thr)
n.42A>C
c.2816A>C (p.Lys939Thr)
c.2807A>C (p.Lys936Thr)
c.2742A>C
c.2756A>C (p.Lys919Thr)
c.2795A>C (p.Lys932Thr)
c.1533A>C
c.2783A>C (p.Lys928Thr)
c.674A>C (p.Lys225Thr)
n.771A>C
n.2396A>C
c.1744A>C
c.817A>C
n.83A>C
12g.6592526T>ACA383588429CHD4c.2776A>T (p.Lys926Ter)
n.41A>T
c.2815A>T (p.Lys939Ter)
c.2806A>T (p.Lys936Ter)
c.2741A>T
c.2755A>T (p.Lys919Ter)
c.2794A>T (p.Lys932Ter)
c.1532A>T
c.2782A>T (p.Lys928Ter)
c.673A>T (p.Lys225Ter)
n.770A>T
n.2395A>T
c.1743A>T
c.816A>T
n.82A>T
12g.6592526T>CCA383588431CHD4c.2776A>G (p.Lys926Glu)
n.41A>G
c.2815A>G (p.Lys939Glu)
c.2806A>G (p.Lys936Glu)
c.2741A>G
c.2755A>G (p.Lys919Glu)
c.2794A>G (p.Lys932Glu)
c.1532A>G
c.2782A>G (p.Lys928Glu)
c.673A>G (p.Lys225Glu)
n.770A>G
n.2395A>G
c.1743A>G
c.816A>G
n.82A>G
12g.6592526T>GCA383588426CHD4c.2776A>C (p.Lys926Gln)
n.41A>C
c.2815A>C (p.Lys939Gln)
c.2806A>C (p.Lys936Gln)
c.2741A>C
c.2755A>C (p.Lys919Gln)
c.2794A>C (p.Lys932Gln)
c.1532A>C
c.2782A>C (p.Lys928Gln)
c.673A>C (p.Lys225Gln)
n.770A>C
n.2395A>C
c.1743A>C
c.816A>C
n.82A>C
12g.6592527G>ACA478511229CHD4c.2775C>T (p.Ala925=)
n.40C>T
c.2814C>T (p.Ala938=)
c.2805C>T (p.Ala935=)
c.2740C>T
c.2754C>T (p.Ala918=)
c.2793C>T (p.Ala931=)
c.1531C>T
c.2781C>T (p.Ala927=)
c.672C>T (p.Ala224=)
n.769C>T
n.2394C>T
c.1742C>T
c.815C>T
n.81C>T
12g.6592527G>CCA478511230CHD4c.2775C>G (p.Ala925=)
n.40C>G
c.2814C>G (p.Ala938=)
c.2805C>G (p.Ala935=)
c.2740C>G
c.2754C>G (p.Ala918=)
c.2793C>G (p.Ala931=)
c.1531C>G
c.2781C>G (p.Ala927=)
c.672C>G (p.Ala224=)
n.769C>G
n.2394C>G
c.1742C>G
c.815C>G
n.81C>G
12g.6592527G>TCA478511231CHD4c.2775C>A (p.Ala925=)
n.40C>A
c.2814C>A (p.Ala938=)
c.2805C>A (p.Ala935=)
c.2740C>A
c.2754C>A (p.Ala918=)
c.2793C>A (p.Ala931=)
c.1531C>A
c.2781C>A (p.Ala927=)
c.672C>A (p.Ala224=)
n.769C>A
n.2394C>A
c.1742C>A
c.815C>A
n.81C>A
12g.6592528G>ACA383588434CHD4c.2774C>T (p.Ala925Val)
n.39C>T
c.2813C>T (p.Ala938Val)
c.2804C>T (p.Ala935Val)
c.2739C>T
c.2753C>T (p.Ala918Val)
c.2792C>T (p.Ala931Val)
c.1530C>T
c.2780C>T (p.Ala927Val)
c.671C>T (p.Ala224Val)
n.768C>T
n.2393C>T
c.1741C>T
c.814C>T
n.80C>T
 gnomAD v4
12g.6592528G>CCA383588436CHD4c.2774C>G (p.Ala925Gly)
n.39C>G
c.2813C>G (p.Ala938Gly)
c.2804C>G (p.Ala935Gly)
c.2739C>G
c.2753C>G (p.Ala918Gly)
c.2792C>G (p.Ala931Gly)
c.1530C>G
c.2780C>G (p.Ala927Gly)
c.671C>G (p.Ala224Gly)
n.768C>G
n.2393C>G
c.1741C>G
c.814C>G
n.80C>G
12g.6592528G>TCA383588437CHD4c.2774C>A (p.Ala925Asp)
n.39C>A
c.2813C>A (p.Ala938Asp)
c.2804C>A (p.Ala935Asp)
c.2739C>A
c.2753C>A (p.Ala918Asp)
c.2792C>A (p.Ala931Asp)
c.1530C>A
c.2780C>A (p.Ala927Asp)
c.671C>A (p.Ala224Asp)
n.768C>A
n.2393C>A
c.1741C>A
c.814C>A
n.80C>A
12g.6592529C>ACA383588438CHD4c.2773G>T (p.Ala925Ser)
n.38G>T
c.2812G>T (p.Ala938Ser)
c.2803G>T (p.Ala935Ser)
c.2738G>T
c.2752G>T (p.Ala918Ser)
c.2791G>T (p.Ala931Ser)
c.1529G>T
c.2779G>T (p.Ala927Ser)
c.670G>T (p.Ala224Ser)
n.767G>T
n.2392G>T
c.1740G>T
c.813G>T
n.79G>T
12g.6592529C>GCA383588439CHD4c.2773G>C (p.Ala925Pro)
n.38G>C
c.2812G>C (p.Ala938Pro)
c.2803G>C (p.Ala935Pro)
c.2738G>C
c.2752G>C (p.Ala918Pro)
c.2791G>C (p.Ala931Pro)
c.1529G>C
c.2779G>C (p.Ala927Pro)
c.670G>C (p.Ala224Pro)
n.767G>C
n.2392G>C
c.1740G>C
c.813G>C
n.79G>C
12g.6592529C>TCA383588440CHD4c.2773G>A (p.Ala925Thr)
n.38G>A
c.2812G>A (p.Ala938Thr)
c.2803G>A (p.Ala935Thr)
c.2738G>A
c.2752G>A (p.Ala918Thr)
c.2791G>A (p.Ala931Thr)
c.1529G>A
c.2779G>A (p.Ala927Thr)
c.670G>A (p.Ala224Thr)
n.767G>A
n.2392G>A
c.1740G>A
c.813G>A
n.79G>A
 gnomAD v4 COSMIC COSMIC COSMIC
12g.6592530A>CCA383588441CHD4c.2772T>G (p.Ile924Met)
n.37T>G
c.2811T>G (p.Ile937Met)
c.2802T>G (p.Ile934Met)
c.2737T>G
c.2751T>G (p.Ile917Met)
c.2790T>G (p.Ile930Met)
c.1528T>G
c.2778T>G (p.Ile926Met)
c.669T>G (p.Ile223Met)
n.766T>G
n.2391T>G
c.1739T>G
c.812T>G
n.78T>G
12g.6592530A>GCA478511232CHD4c.2772T>C (p.Ile924=)
n.37T>C
c.2811T>C (p.Ile937=)
c.2802T>C (p.Ile934=)
c.2737T>C
c.2751T>C (p.Ile917=)
c.2790T>C (p.Ile930=)
c.1528T>C
c.2778T>C (p.Ile926=)
c.669T>C (p.Ile223=)
n.766T>C
n.2391T>C
c.1739T>C
c.812T>C
n.78T>C
 gnomAD v4
12g.6592530A>TCA478511233CHD4c.2772T>A (p.Ile924=)
n.37T>A
c.2811T>A (p.Ile937=)
c.2802T>A (p.Ile934=)
c.2737T>A
c.2751T>A (p.Ile917=)
c.2790T>A (p.Ile930=)
c.1528T>A
c.2778T>A (p.Ile926=)
c.669T>A (p.Ile223=)
n.766T>A
n.2391T>A
c.1739T>A
c.812T>A
n.78T>A
12g.6592531A=CA2014148603CHD4c.2771T= (p.Ile924=)
n.36T=
c.2810T= (p.Ile937=)
c.2801T= (p.Ile934=)
c.2736T=
c.2750T= (p.Ile917=)
c.2789T= (p.Ile930=)
c.1527T=
c.2777T= (p.Ile926=)
c.668T= (p.Ile223=)
n.765T=
n.2390T=
c.1738T=
c.811T=
n.77T=
12g.6592531A>CCA383588443CHD4c.2771T>G (p.Ile924Ser)
n.36T>G
c.2810T>G (p.Ile937Ser)
c.2801T>G (p.Ile934Ser)
c.2736T>G
c.2750T>G (p.Ile917Ser)
c.2789T>G (p.Ile930Ser)
c.1527T>G
c.2777T>G (p.Ile926Ser)
c.668T>G (p.Ile223Ser)
n.765T>G
n.2390T>G
c.1738T>G
c.811T>G
n.77T>G
12g.6592531A>GCA383588444CHD4c.2771T>C (p.Ile924Thr)
n.36T>C
c.2810T>C (p.Ile937Thr)
c.2801T>C (p.Ile934Thr)
c.2736T>C
c.2750T>C (p.Ile917Thr)
c.2789T>C (p.Ile930Thr)
c.1527T>C
c.2777T>C (p.Ile926Thr)
c.668T>C (p.Ile223Thr)
n.765T>C
n.2390T>C
c.1738T>C
c.811T>C
n.77T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6592531A>TCA383588446CHD4c.2771T>A (p.Ile924Asn)
n.36T>A
c.2810T>A (p.Ile937Asn)
c.2801T>A (p.Ile934Asn)
c.2736T>A
c.2750T>A (p.Ile917Asn)
c.2789T>A (p.Ile930Asn)
c.1527T>A
c.2777T>A (p.Ile926Asn)
c.668T>A (p.Ile223Asn)
n.765T>A
n.2390T>A
c.1738T>A
c.811T>A
n.77T>A
12g.6592532T>ACA383588449CHD4c.2770A>T (p.Ile924Phe)
n.35A>T
c.2809A>T (p.Ile937Phe)
c.2800A>T (p.Ile934Phe)
c.2735A>T
c.2749A>T (p.Ile917Phe)
c.2788A>T (p.Ile930Phe)
c.1526A>T
c.2776A>T (p.Ile926Phe)
c.667A>T (p.Ile223Phe)
n.764A>T
n.2389A>T
c.1737A>T
c.810A>T
n.76A>T
12g.6592532T>CCA383588451CHD4c.2770A>G (p.Ile924Val)
n.35A>G
c.2809A>G (p.Ile937Val)
c.2800A>G (p.Ile934Val)
c.2735A>G
c.2749A>G (p.Ile917Val)
c.2788A>G (p.Ile930Val)
c.1526A>G
c.2776A>G (p.Ile926Val)
c.667A>G (p.Ile223Val)
n.764A>G
n.2389A>G
c.1737A>G
c.810A>G
n.76A>G
12g.6592532T>GCA383588454CHD4c.2770A>C (p.Ile924Leu)
n.35A>C
c.2809A>C (p.Ile937Leu)
c.2800A>C (p.Ile934Leu)
c.2735A>C
c.2749A>C (p.Ile917Leu)
c.2788A>C (p.Ile930Leu)
c.1526A>C
c.2776A>C (p.Ile926Leu)
c.667A>C (p.Ile223Leu)
n.764A>C
n.2389A>C
c.1737A>C
c.810A>C
n.76A>C
12g.6592533G>ACA478511234CHD4c.2769C>T (p.Asp923=)
n.34C>T
c.2808C>T (p.Asp936=)
c.2799C>T (p.Asp933=)
c.2734C>T
c.2748C>T (p.Asp916=)
c.2787C>T (p.Asp929=)
c.1525C>T
c.2775C>T (p.Asp925=)
c.666C>T (p.Asp222=)
n.763C>T
n.2388C>T
c.1736C>T
c.809C>T
n.75C>T
12g.6592533G>CCA383588460CHD4c.2769C>G (p.Asp923Glu)
n.34C>G
c.2808C>G (p.Asp936Glu)
c.2799C>G (p.Asp933Glu)
c.2734C>G
c.2748C>G (p.Asp916Glu)
c.2787C>G (p.Asp929Glu)
c.1525C>G
c.2775C>G (p.Asp925Glu)
c.666C>G (p.Asp222Glu)
n.763C>G
n.2388C>G
c.1736C>G
c.809C>G
n.75C>G
12g.6592533G>TCA383588458CHD4c.2769C>A (p.Asp923Glu)
n.34C>A
c.2808C>A (p.Asp936Glu)
c.2799C>A (p.Asp933Glu)
c.2734C>A
c.2748C>A (p.Asp916Glu)
c.2787C>A (p.Asp929Glu)
c.1525C>A
c.2775C>A (p.Asp925Glu)
c.666C>A (p.Asp222Glu)
n.763C>A
n.2388C>A
c.1736C>A
c.809C>A
n.75C>A
12g.6592534T>ACA383588464CHD4c.2768A>T (p.Asp923Val)
n.33A>T
c.2807A>T (p.Asp936Val)
c.2798A>T (p.Asp933Val)
c.2733A>T
c.2747A>T (p.Asp916Val)
c.2786A>T (p.Asp929Val)
c.1524A>T
c.2774A>T (p.Asp925Val)
c.665A>T (p.Asp222Val)
n.762A>T
n.2387A>T
c.1735A>T
c.808A>T
n.74A>T
12g.6592534T>CCA383588467CHD4c.2768A>G (p.Asp923Gly)
n.33A>G
c.2807A>G (p.Asp936Gly)
c.2798A>G (p.Asp933Gly)
c.2733A>G
c.2747A>G (p.Asp916Gly)
c.2786A>G (p.Asp929Gly)
c.1524A>G
c.2774A>G (p.Asp925Gly)
c.665A>G (p.Asp222Gly)
n.762A>G
n.2387A>G
c.1735A>G
c.808A>G
n.74A>G
12g.6592534T>GCA383588471CHD4c.2768A>C (p.Asp923Ala)
n.33A>C
c.2807A>C (p.Asp936Ala)
c.2798A>C (p.Asp933Ala)
c.2733A>C
c.2747A>C (p.Asp916Ala)
c.2786A>C (p.Asp929Ala)
c.1524A>C
c.2774A>C (p.Asp925Ala)
c.665A>C (p.Asp222Ala)
n.762A>C
n.2387A>C
c.1735A>C
c.808A>C
n.74A>C
12g.6592535C>ACA383588474CHD4c.2767G>T (p.Asp923Tyr)
n.32G>T
c.2806G>T (p.Asp936Tyr)
c.2797G>T (p.Asp933Tyr)
c.2732G>T
c.2746G>T (p.Asp916Tyr)
c.2785G>T (p.Asp929Tyr)
c.1523G>T
c.2773G>T (p.Asp925Tyr)
c.664G>T (p.Asp222Tyr)
n.761G>T
n.2386G>T
c.1734G>T
c.807G>T
n.73G>T
12g.6592535C>GCA383588477CHD4c.2767G>C (p.Asp923His)
n.32G>C
c.2806G>C (p.Asp936His)
c.2797G>C (p.Asp933His)
c.2732G>C
c.2746G>C (p.Asp916His)
c.2785G>C (p.Asp929His)
c.1523G>C
c.2773G>C (p.Asp925His)
c.664G>C (p.Asp222His)
n.761G>C
n.2386G>C
c.1734G>C
c.807G>C
n.73G>C
12g.6592535C>TCA383588481CHD4c.2767G>A (p.Asp923Asn)
n.32G>A
c.2806G>A (p.Asp936Asn)
c.2797G>A (p.Asp933Asn)
c.2732G>A
c.2746G>A (p.Asp916Asn)
c.2785G>A (p.Asp929Asn)
c.1523G>A
c.2773G>A (p.Asp925Asn)
c.664G>A (p.Asp222Asn)
n.761G>A
n.2386G>A
c.1734G>A
c.807G>A
n.73G>A
12g.6592536A>CCA478511235CHD4c.2766T>G (p.Ala922=)
n.31T>G
c.2805T>G (p.Ala935=)
c.2796T>G (p.Ala932=)
c.2731T>G
c.2745T>G (p.Ala915=)
c.2784T>G (p.Ala928=)
c.1522T>G
c.2772T>G (p.Ala924=)
c.663T>G (p.Ala221=)
n.760T>G
n.2385T>G
c.1733T>G
c.806T>G
n.72T>G
12g.6592536A>GCA478511236CHD4c.2766T>C (p.Ala922=)
n.31T>C
c.2805T>C (p.Ala935=)
c.2796T>C (p.Ala932=)
c.2731T>C
c.2745T>C (p.Ala915=)
c.2784T>C (p.Ala928=)
c.1522T>C
c.2772T>C (p.Ala924=)
c.663T>C (p.Ala221=)
n.760T>C
n.2385T>C
c.1733T>C
c.806T>C
n.72T>C
12g.6592536A>TCA478511237CHD4c.2766T>A (p.Ala922=)
n.31T>A
c.2805T>A (p.Ala935=)
c.2796T>A (p.Ala932=)
c.2731T>A
c.2745T>A (p.Ala915=)
c.2784T>A (p.Ala928=)
c.1522T>A
c.2772T>A (p.Ala924=)
c.663T>A (p.Ala221=)
n.760T>A
n.2385T>A
c.1733T>A
c.806T>A
n.72T>A
12g.6592537G>ACA383588485CHD4c.2765C>T (p.Ala922Val)
n.30C>T
c.2804C>T (p.Ala935Val)
c.2795C>T (p.Ala932Val)
c.2730C>T
c.2744C>T (p.Ala915Val)
c.2783C>T (p.Ala928Val)
c.1521C>T
c.2771C>T (p.Ala924Val)
c.662C>T (p.Ala221Val)
n.759C>T
n.2384C>T
c.1732C>T
c.805C>T
n.71C>T
 gnomAD v4
12g.6592537G>CCA383588487CHD4c.2765C>G (p.Ala922Gly)
n.30C>G
c.2804C>G (p.Ala935Gly)
c.2795C>G (p.Ala932Gly)
c.2730C>G
c.2744C>G (p.Ala915Gly)
c.2783C>G (p.Ala928Gly)
c.1521C>G
c.2771C>G (p.Ala924Gly)
c.662C>G (p.Ala221Gly)
n.759C>G
n.2384C>G
c.1732C>G
c.805C>G
n.71C>G
12g.6592537G>TCA383588491CHD4c.2765C>A (p.Ala922Asp)
n.30C>A
c.2804C>A (p.Ala935Asp)
c.2795C>A (p.Ala932Asp)
c.2730C>A
c.2744C>A (p.Ala915Asp)
c.2783C>A (p.Ala928Asp)
c.1521C>A
c.2771C>A (p.Ala924Asp)
c.662C>A (p.Ala221Asp)
n.759C>A
n.2384C>A
c.1732C>A
c.805C>A
n.71C>A
12g.6592538C>ACA383588494CHD4c.2764G>T (p.Ala922Ser)
n.29G>T
c.2803G>T (p.Ala935Ser)
c.2794G>T (p.Ala932Ser)
c.2729G>T
c.2743G>T (p.Ala915Ser)
c.2782G>T (p.Ala928Ser)
c.1520G>T
c.2770G>T (p.Ala924Ser)
c.661G>T (p.Ala221Ser)
n.758G>T
n.2383G>T
c.1731G>T
c.804G>T
n.70G>T
12g.6592538C>GCA383588497CHD4c.2764G>C (p.Ala922Pro)
n.29G>C
c.2803G>C (p.Ala935Pro)
c.2794G>C (p.Ala932Pro)
c.2729G>C
c.2743G>C (p.Ala915Pro)
c.2782G>C (p.Ala928Pro)
c.1520G>C
c.2770G>C (p.Ala924Pro)
c.661G>C (p.Ala221Pro)
n.758G>C
n.2383G>C
c.1731G>C
c.804G>C
n.70G>C
12g.6592538C>TCA383588499CHD4c.2764G>A (p.Ala922Thr)
n.29G>A
c.2803G>A (p.Ala935Thr)
c.2794G>A (p.Ala932Thr)
c.2729G>A
c.2743G>A (p.Ala915Thr)
c.2782G>A (p.Ala928Thr)
c.1520G>A
c.2770G>A (p.Ala924Thr)
c.661G>A (p.Ala221Thr)
n.758G>A
n.2383G>A
c.1731G>A
c.804G>A
n.70G>A
12g.6592539A>CCA383588502CHD4c.2763T>G (p.Phe921Leu)
n.28T>G
c.2802T>G (p.Phe934Leu)
c.2793T>G (p.Phe931Leu)
c.2728T>G
c.2742T>G (p.Phe914Leu)
c.2781T>G (p.Phe927Leu)
c.1519T>G
c.2769T>G (p.Phe923Leu)
c.660T>G (p.Phe220Leu)
n.757T>G
n.2382T>G
c.1730T>G
c.803T>G
n.69T>G
12g.6592539A>GCA478511238CHD4c.2763T>C (p.Phe921=)
n.28T>C
c.2802T>C (p.Phe934=)
c.2793T>C (p.Phe931=)
c.2728T>C
c.2742T>C (p.Phe914=)
c.2781T>C (p.Phe927=)
c.1519T>C
c.2769T>C (p.Phe923=)
c.660T>C (p.Phe220=)
n.757T>C
n.2382T>C
c.1730T>C
c.803T>C
n.69T>C
12g.6592539A>TCA383588505CHD4c.2763T>A (p.Phe921Leu)
n.28T>A
c.2802T>A (p.Phe934Leu)
c.2793T>A (p.Phe931Leu)
c.2728T>A
c.2742T>A (p.Phe914Leu)
c.2781T>A (p.Phe927Leu)
c.1519T>A
c.2769T>A (p.Phe923Leu)
c.660T>A (p.Phe220Leu)
n.757T>A
n.2382T>A
c.1730T>A
c.803T>A
n.69T>A
12g.6592540A>CCA383588511CHD4c.2762T>G (p.Phe921Cys)
n.27T>G
c.2801T>G (p.Phe934Cys)
c.2792T>G (p.Phe931Cys)
c.2727T>G
c.2741T>G (p.Phe914Cys)
c.2780T>G (p.Phe927Cys)
c.1518T>G
c.2768T>G (p.Phe923Cys)
c.659T>G (p.Phe220Cys)
n.756T>G
n.2381T>G
c.1729T>G
c.802T>G
n.68T>G
12g.6592540A>GCA383588513CHD4c.2762T>C (p.Phe921Ser)
n.27T>C
c.2801T>C (p.Phe934Ser)
c.2792T>C (p.Phe931Ser)
c.2727T>C
c.2741T>C (p.Phe914Ser)
c.2780T>C (p.Phe927Ser)
c.1518T>C
c.2768T>C (p.Phe923Ser)
c.659T>C (p.Phe220Ser)
n.756T>C
n.2381T>C
c.1729T>C
c.802T>C
n.68T>C
12g.6592540A>TCA383588509CHD4c.2762T>A (p.Phe921Tyr)
n.27T>A
c.2801T>A (p.Phe934Tyr)
c.2792T>A (p.Phe931Tyr)
c.2727T>A
c.2741T>A (p.Phe914Tyr)
c.2780T>A (p.Phe927Tyr)
c.1518T>A
c.2768T>A (p.Phe923Tyr)
c.659T>A (p.Phe220Tyr)
n.756T>A
n.2381T>A
c.1729T>A
c.802T>A
n.68T>A
12g.6592541A>CCA383588515CHD4c.2761T>G (p.Phe921Val)
n.26T>G
c.2800T>G (p.Phe934Val)
c.2791T>G (p.Phe931Val)
c.2726T>G
c.2740T>G (p.Phe914Val)
c.2779T>G (p.Phe927Val)
c.1517T>G
c.2767T>G (p.Phe923Val)
c.658T>G (p.Phe220Val)
n.755T>G
n.2380T>G
c.1728T>G
c.801T>G
n.67T>G
12g.6592541A>GCA383588525CHD4c.2761T>C (p.Phe921Leu)
n.26T>C
c.2800T>C (p.Phe934Leu)
c.2791T>C (p.Phe931Leu)
c.2726T>C
c.2740T>C (p.Phe914Leu)
c.2779T>C (p.Phe927Leu)
c.1517T>C
c.2767T>C (p.Phe923Leu)
c.658T>C (p.Phe220Leu)
n.755T>C
n.2380T>C
c.1728T>C
c.801T>C
n.67T>C
12g.6592541A>TCA383588522CHD4c.2761T>A (p.Phe921Ile)
n.26T>A
c.2800T>A (p.Phe934Ile)
c.2791T>A (p.Phe931Ile)
c.2726T>A
c.2740T>A (p.Phe914Ile)
c.2779T>A (p.Phe927Ile)
c.1517T>A
c.2767T>A (p.Phe923Ile)
c.658T>A (p.Phe220Ile)
n.755T>A
n.2380T>A
c.1728T>A
c.801T>A
n.67T>A
12g.6592542C>ACA383588528CHD4c.2760G>T (p.Glu920Asp)
n.25G>T
c.2799G>T (p.Glu933Asp)
c.2790G>T (p.Glu930Asp)
c.2725G>T
c.2739G>T (p.Glu913Asp)
c.2778G>T (p.Glu926Asp)
c.1516G>T
c.2766G>T (p.Glu922Asp)
c.657G>T (p.Glu219Asp)
n.754G>T
n.2379G>T
c.1727G>T
c.800G>T
n.66G>T
12g.6592542C>GCA383588530CHD4c.2760G>C (p.Glu920Asp)
n.25G>C
c.2799G>C (p.Glu933Asp)
c.2790G>C (p.Glu930Asp)
c.2725G>C
c.2739G>C (p.Glu913Asp)
c.2778G>C (p.Glu926Asp)
c.1516G>C
c.2766G>C (p.Glu922Asp)
c.657G>C (p.Glu219Asp)
n.754G>C
n.2379G>C
c.1727G>C
c.800G>C
n.66G>C
12g.6592542C>TCA478511239CHD4c.2760G>A (p.Glu920=)
n.25G>A
c.2799G>A (p.Glu933=)
c.2790G>A (p.Glu930=)
c.2725G>A
c.2739G>A (p.Glu913=)
c.2778G>A (p.Glu926=)
c.1516G>A
c.2766G>A (p.Glu922=)
c.657G>A (p.Glu219=)
n.754G>A
n.2379G>A
c.1727G>A
c.800G>A
n.66G>A
12g.6592542_6592548delCA2617296394CHD4c.2754_2760del (p.Leu918PhefsTer11)
n.19_25del
c.2793_2799del (p.Leu931PhefsTer11)
c.2784_2790del (p.Leu928PhefsTer11)
c.2719_2725del
c.2733_2739del (p.Leu911PhefsTer11)
c.2772_2778del (p.Leu924PhefsTer11)
c.1510_1516del
c.2760_2766del (p.Leu920PhefsTer11)
c.651_657del (p.Leu217PhefsTer11)
n.748_754del
n.2373_2379del
c.1721_1727del
c.794_800del
n.60_66del
 gnomAD v4
12g.6592543T>ACA383588536CHD4c.2759A>T (p.Glu920Val)
n.24A>T
c.2798A>T (p.Glu933Val)
c.2789A>T (p.Glu930Val)
c.2724A>T
c.2738A>T (p.Glu913Val)
c.2777A>T (p.Glu926Val)
c.1515A>T
c.2765A>T (p.Glu922Val)
c.656A>T (p.Glu219Val)
n.753A>T
n.2378A>T
c.1726A>T
c.799A>T
n.65A>T
12g.6592543T>CCA383588538CHD4c.2759A>G (p.Glu920Gly)
n.24A>G
c.2798A>G (p.Glu933Gly)
c.2789A>G (p.Glu930Gly)
c.2724A>G
c.2738A>G (p.Glu913Gly)
c.2777A>G (p.Glu926Gly)
c.1515A>G
c.2765A>G (p.Glu922Gly)
c.656A>G (p.Glu219Gly)
n.753A>G
n.2378A>G
c.1726A>G
c.799A>G
n.65A>G
12g.6592543T>GCA383588552CHD4c.2759A>C (p.Glu920Ala)
n.24A>C
c.2798A>C (p.Glu933Ala)
c.2789A>C (p.Glu930Ala)
c.2724A>C
c.2738A>C (p.Glu913Ala)
c.2777A>C (p.Glu926Ala)
c.1515A>C
c.2765A>C (p.Glu922Ala)
c.656A>C (p.Glu219Ala)
n.753A>C
n.2378A>C
c.1726A>C
c.799A>C
n.65A>C
12g.6592544C>ACA383588557CHD4c.2758G>T (p.Glu920Ter)
n.23G>T
c.2797G>T (p.Glu933Ter)
c.2788G>T (p.Glu930Ter)
c.2723G>T
c.2737G>T (p.Glu913Ter)
c.2776G>T (p.Glu926Ter)
c.1514G>T
c.2764G>T (p.Glu922Ter)
c.655G>T (p.Glu219Ter)
n.752G>T
n.2377G>T
c.1725G>T
c.798G>T
n.64G>T
12g.6592544C>GCA383588560CHD4c.2758G>C (p.Glu920Gln)
n.23G>C
c.2797G>C (p.Glu933Gln)
c.2788G>C (p.Glu930Gln)
c.2723G>C
c.2737G>C (p.Glu913Gln)
c.2776G>C (p.Glu926Gln)
c.1514G>C
c.2764G>C (p.Glu922Gln)
c.655G>C (p.Glu219Gln)
n.752G>C
n.2377G>C
c.1725G>C
c.798G>C
n.64G>C
12g.6592544C>TCA383588563CHD4c.2758G>A (p.Glu920Lys)
n.23G>A
c.2797G>A (p.Glu933Lys)
c.2788G>A (p.Glu930Lys)
c.2723G>A
c.2737G>A (p.Glu913Lys)
c.2776G>A (p.Glu926Lys)
c.1514G>A
c.2764G>A (p.Glu922Lys)
c.655G>A (p.Glu219Lys)
n.752G>A
n.2377G>A
c.1725G>A
c.798G>A
n.64G>A

Number of alleles fetched