Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18619879_18619881dupCA2519742943CDKL5c.2289_2291dup (p.Glu763_Asn764insLys)
c.2238_2240dup (p.Glu746_Asn747insLys)
c.2157_2159dup (p.Glu719_Asn720insLys)
n.2541_2543dup
Xg.18619879A>CCA412363222CDKL5c.2289A>C (p.Glu763Asp)
c.2238A>C (p.Glu746Asp)
c.2157A>C (p.Glu719Asp)
n.2541A>C
 gnomAD v4
Xg.18619879A>GCA515470229CDKL5c.2289A>G (p.Glu763=)
c.2238A>G (p.Glu746=)
c.2157A>G (p.Glu719=)
n.2541A>G
Xg.18619879A>TCA412363232CDKL5c.2289A>T (p.Glu763Asp)
c.2238A>T (p.Glu746Asp)
c.2157A>T (p.Glu719Asp)
n.2541A>T
Xg.18619880A>CCA412363239CDKL5c.2290A>C (p.Asn764His)
c.2239A>C (p.Asn747His)
c.2158A>C (p.Asn720His)
n.2542A>C
Xg.18619880A>GCA412363236CDKL5c.2290A>G (p.Asn764Asp)
c.2239A>G (p.Asn747Asp)
c.2158A>G (p.Asn720Asp)
n.2542A>G
Xg.18619880A>TCA412363237CDKL5c.2290A>T (p.Asn764Tyr)
c.2239A>T (p.Asn747Tyr)
c.2158A>T (p.Asn720Tyr)
n.2542A>T
Xg.18619881A>CCA412363242CDKL5c.2291A>C (p.Asn764Thr)
c.2240A>C (p.Asn747Thr)
c.2159A>C (p.Asn720Thr)
n.2543A>C
Xg.18619881A>GCA412363245CDKL5c.2291A>G (p.Asn764Ser)
c.2240A>G (p.Asn747Ser)
c.2159A>G (p.Asn720Ser)
n.2543A>G
Xg.18619881A>TCA412363248CDKL5c.2291A>T (p.Asn764Ile)
c.2240A>T (p.Asn747Ile)
c.2159A>T (p.Asn720Ile)
n.2543A>T
Xg.18619882T>ACA412363251CDKL5c.2292T>A (p.Asn764Lys)
c.2241T>A (p.Asn747Lys)
c.2160T>A (p.Asn720Lys)
n.2544T>A
Xg.18619882T>CCA515470230CDKL5c.2292T>C (p.Asn764=)
c.2241T>C (p.Asn747=)
c.2160T>C (p.Asn720=)
n.2544T>C
 dbSNP
Xg.18619882T>GCA412363254CDKL5c.2292T>G (p.Asn764Lys)
c.2241T>G (p.Asn747Lys)
c.2160T>G (p.Asn720Lys)
n.2544T>G
Xg.18619882T=CA2417979420CDKL5c.2292T= (p.Asn764=)
c.2241T= (p.Asn747=)
c.2160T= (p.Asn720=)
n.2544T=
Xg.18619883A>CCA412363269CDKL5c.2293A>C (p.Ile765Leu)
c.2242A>C (p.Ile748Leu)
c.2161A>C (p.Ile721Leu)
n.2545A>C
Xg.18619883A>GCA412363272CDKL5c.2293A>G (p.Ile765Val)
c.2242A>G (p.Ile748Val)
c.2161A>G (p.Ile721Val)
n.2545A>G
Xg.18619883A>TCA412363270CDKL5c.2293A>T (p.Ile765Phe)
c.2242A>T (p.Ile748Phe)
c.2161A>T (p.Ile721Phe)
n.2545A>T
Xg.18619884T>ACA412363275CDKL5c.2294T>A (p.Ile765Asn)
c.2243T>A (p.Ile748Asn)
c.2162T>A (p.Ile721Asn)
n.2546T>A
Xg.18619884T>CCA412363278CDKL5c.2294T>C (p.Ile765Thr)
c.2243T>C (p.Ile748Thr)
c.2162T>C (p.Ile721Thr)
n.2546T>C
Xg.18619884T>GCA412363282CDKL5c.2294T>G (p.Ile765Ser)
c.2243T>G (p.Ile748Ser)
c.2162T>G (p.Ile721Ser)
n.2546T>G
Xg.18619885delCA2693223299CDKL5c.2295del (p.Ser766ValfsTer18)
c.2244del (p.Ser749ValfsTer18)
c.2163del (p.Ser722ValfsTer18)
n.2547del
 gnomAD v4
Xg.18619885T>ACA515470232CDKL5c.2295T>A (p.Ile765=)
c.2244T>A (p.Ile748=)
c.2163T>A (p.Ile721=)
n.2547T>A
Xg.18619885T>CCA515470233CDKL5c.2295T>C (p.Ile765=)
c.2244T>C (p.Ile748=)
c.2163T>C (p.Ile721=)
n.2547T>C
Xg.18619885T>GCA412363286CDKL5c.2295T>G (p.Ile765Met)
c.2244T>G (p.Ile748Met)
c.2163T>G (p.Ile721Met)
n.2547T>G
Xg.18619886A=CA2417979421CDKL5c.2296A= (p.Ser766=)
c.2245A= (p.Ser749=)
c.2164A= (p.Ser722=)
n.2548A=
Xg.18619886A>CCA412363290CDKL5c.2296A>C (p.Ser766Arg)
c.2245A>C (p.Ser749Arg)
c.2164A>C (p.Ser722Arg)
n.2548A>C
Xg.18619886A>GCA412363292CDKL5c.2296A>G (p.Ser766Gly)
c.2245A>G (p.Ser749Gly)
c.2164A>G (p.Ser722Gly)
n.2548A>G
 COSMIC
Xg.18619886A>TCA412363296CDKL5c.2296A>T (p.Ser766Cys)
c.2245A>T (p.Ser749Cys)
c.2164A>T (p.Ser722Cys)
n.2548A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18619886_18619887insACACA2819902195CDKL5c.2296_2297insACA (p.Ile765_Ser766insAsn)
c.2245_2246insACA (p.Ile748_Ser749insAsn)
c.2164_2165insACA (p.Ile721_Ser722insAsn)
n.2548_2549insACA
Xg.18619887G>ACA412363300CDKL5c.2297G>A (p.Ser766Asn)
c.2246G>A (p.Ser749Asn)
c.2165G>A (p.Ser722Asn)
n.2549G>A
 ClinVar
Xg.18619887G>CCA412363301CDKL5c.2297G>C (p.Ser766Thr)
c.2246G>C (p.Ser749Thr)
c.2165G>C (p.Ser722Thr)
n.2549G>C
Xg.18619887G>TCA412363302CDKL5c.2297G>T (p.Ser766Ile)
c.2246G>T (p.Ser749Ile)
c.2165G>T (p.Ser722Ile)
n.2549G>T
Xg.18619888T>ACA412363303CDKL5c.2298T>A (p.Ser766Arg)
c.2247T>A (p.Ser749Arg)
c.2166T>A (p.Ser722Arg)
n.2550T>A
Xg.18619888T>CCA515470234CDKL5c.2298T>C (p.Ser766=)
c.2247T>C (p.Ser749=)
c.2166T>C (p.Ser722=)
n.2550T>C
Xg.18619888T>GCA412363306CDKL5c.2298T>G (p.Ser766Arg)
c.2247T>G (p.Ser749Arg)
c.2166T>G (p.Ser722Arg)
n.2550T>G
Xg.18619889delCA2579563029CDKL5c.2299del (p.His767IlefsTer17)
c.2248del (p.His750IlefsTer17)
c.2167del (p.His723IlefsTer17)
n.2551del
Xg.18619889C>ACA412363309CDKL5c.2299C>A (p.His767Asn)
c.2248C>A (p.His750Asn)
c.2167C>A (p.His723Asn)
n.2551C>A
 gnomAD v4
Xg.18619889C>GCA412363334CDKL5c.2299C>G (p.His767Asp)
c.2248C>G (p.His750Asp)
c.2167C>G (p.His723Asp)
n.2551C>G
Xg.18619889C>TCA412363312CDKL5c.2299C>T (p.His767Tyr)
c.2248C>T (p.His750Tyr)
c.2167C>T (p.His723Tyr)
n.2551C>T
Xg.18619890A>CCA412363340CDKL5c.2300A>C (p.His767Pro)
c.2249A>C (p.His750Pro)
c.2168A>C (p.His723Pro)
n.2552A>C
Xg.18619890A>GCA412363344CDKL5c.2300A>G (p.His767Arg)
c.2249A>G (p.His750Arg)
c.2168A>G (p.His723Arg)
n.2552A>G
 gnomAD v4
Xg.18619890A>TCA412363347CDKL5c.2300A>T (p.His767Leu)
c.2249A>T (p.His750Leu)
c.2168A>T (p.His723Leu)
n.2552A>T
Xg.18619891T>ACA412363351CDKL5c.2301T>A (p.His767Gln)
c.2250T>A (p.His750Gln)
c.2169T>A (p.His723Gln)
n.2553T>A
Xg.18619891T>CCA515470235CDKL5c.2301T>C (p.His767=)
c.2250T>C (p.His750=)
c.2169T>C (p.His723=)
n.2553T>C
 gnomAD v4
Xg.18619891T>GCA412363355CDKL5c.2301T>G (p.His767Gln)
c.2250T>G (p.His750Gln)
c.2169T>G (p.His723Gln)
n.2553T>G
Xg.18619892T>ACA412363364CDKL5c.2302T>A (p.Ser768Thr)
c.2251T>A (p.Ser751Thr)
c.2170T>A (p.Ser724Thr)
n.2554T>A
 gnomAD v4
Xg.18619892T>CCA412363361CDKL5c.2302T>C (p.Ser768Pro)
c.2251T>C (p.Ser751Pro)
c.2170T>C (p.Ser724Pro)
n.2554T>C
Xg.18619892T>GCA412363358CDKL5c.2302T>G (p.Ser768Ala)
c.2251T>G (p.Ser751Ala)
c.2170T>G (p.Ser724Ala)
n.2554T>G
Xg.18619893C>ACA412363377CDKL5c.2303C>A (p.Ser768Ter)
c.2252C>A (p.Ser751Ter)
c.2171C>A (p.Ser724Ter)
n.2555C>A
 gnomAD v4
Xg.18619893C>GCA412363379CDKL5c.2303C>G (p.Ser768Ter)
c.2252C>G (p.Ser751Ter)
c.2171C>G (p.Ser724Ter)
n.2555C>G
Xg.18619893C>TCA412363384CDKL5c.2303C>T (p.Ser768Leu)
c.2252C>T (p.Ser751Leu)
c.2171C>T (p.Ser724Leu)
n.2555C>T
Xg.18619894A>CCA515470236CDKL5c.2304A>C (p.Ser768=)
c.2253A>C (p.Ser751=)
c.2172A>C (p.Ser724=)
n.2556A>C
Xg.18619894A>GCA515470237CDKL5c.2304A>G (p.Ser768=)
c.2253A>G (p.Ser751=)
c.2172A>G (p.Ser724=)
n.2556A>G
Xg.18619894A>TCA515470238CDKL5c.2304A>T (p.Ser768=)
c.2253A>T (p.Ser751=)
c.2172A>T (p.Ser724=)
n.2556A>T
Xg.18619895G>ACA412363386CDKL5c.2305G>A (p.Glu769Lys)
c.2254G>A (p.Glu752Lys)
c.2173G>A (p.Glu725Lys)
n.2557G>A
Xg.18619895G>CCA412363388CDKL5c.2305G>C (p.Glu769Gln)
c.2254G>C (p.Glu752Gln)
c.2173G>C (p.Glu725Gln)
n.2557G>C
Xg.18619895G=CA2417979422CDKL5c.2305G= (p.Glu769=)
c.2254G= (p.Glu752=)
c.2173G= (p.Glu725=)
n.2557G=
Xg.18619895G>TCA10603551CDKL5c.2305G>T (p.Glu769Ter)
c.2254G>T (p.Glu752Ter)
c.2173G>T (p.Glu725Ter)
n.2557G>T
 ClinVar dbSNP
Xg.18619896A>CCA412363418CDKL5c.2306A>C (p.Glu769Ala)
c.2255A>C (p.Glu752Ala)
c.2174A>C (p.Glu725Ala)
n.2558A>C
Xg.18619896A>GCA412363413CDKL5c.2306A>G (p.Glu769Gly)
c.2255A>G (p.Glu752Gly)
c.2174A>G (p.Glu725Gly)
n.2558A>G
Xg.18619896A>TCA412363410CDKL5c.2306A>T (p.Glu769Val)
c.2255A>T (p.Glu752Val)
c.2174A>T (p.Glu725Val)
n.2558A>T
Xg.18619897_18619899dupCA412363398CDKL5c.2307_2309dup (p.Gln770_Leu771insGln)
c.2256_2258dup (p.Gln753_Leu754insGln)
c.2175_2177dup (p.Gln726_Leu727insGln)
n.2559_2561dup
 ClinVar dbSNP
Xg.18619897G>ACA515470239CDKL5c.2307G>A (p.Glu769=)
c.2256G>A (p.Glu752=)
c.2175G>A (p.Glu725=)
n.2559G>A
 gnomAD v4
Xg.18619897G>CCA412363424CDKL5c.2307G>C (p.Glu769Asp)
c.2256G>C (p.Glu752Asp)
c.2175G>C (p.Glu725Asp)
n.2559G>C
Xg.18619897G>TCA412363428CDKL5c.2307G>T (p.Glu769Asp)
c.2256G>T (p.Glu752Asp)
c.2175G>T (p.Glu725Asp)
n.2559G>T
Xg.18619898C>ACA199333CDKL5c.2308C>A (p.Gln770Lys)
c.2257C>A (p.Gln753Lys)
c.2176C>A (p.Gln726Lys)
n.2560C>A
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.18619898C=CA2417979423CDKL5c.2308C= (p.Gln770=)
c.2257C= (p.Gln753=)
c.2176C= (p.Gln726=)
n.2560C=
Xg.18619898C>GCA412363439CDKL5c.2308C>G (p.Gln770Glu)
c.2257C>G (p.Gln753Glu)
c.2176C>G (p.Gln726Glu)
n.2560C>G
Xg.18619898C>TCA412363442CDKL5c.2308C>T (p.Gln770Ter)
c.2257C>T (p.Gln753Ter)
c.2176C>T (p.Gln726Ter)
n.2560C>T
 gnomAD v4
Xg.18619899A>CCA412363448CDKL5c.2309A>C (p.Gln770Pro)
c.2258A>C (p.Gln753Pro)
c.2177A>C (p.Gln726Pro)
n.2561A>C
Xg.18619899A>GCA412363452CDKL5c.2309A>G (p.Gln770Arg)
c.2258A>G (p.Gln753Arg)
c.2177A>G (p.Gln726Arg)
n.2561A>G
Xg.18619899A>TCA412363454CDKL5c.2309A>T (p.Gln770Leu)
c.2258A>T (p.Gln753Leu)
c.2177A>T (p.Gln726Leu)
n.2561A>T
Xg.18619900A>CCA412363456CDKL5c.2310A>C (p.Gln770His)
c.2259A>C (p.Gln753His)
c.2178A>C (p.Gln726His)
n.2562A>C
Xg.18619900A>GCA515470240CDKL5c.2310A>G (p.Gln770=)
c.2259A>G (p.Gln753=)
c.2178A>G (p.Gln726=)
n.2562A>G
Xg.18619900A>TCA412363462CDKL5c.2310A>T (p.Gln770His)
c.2259A>T (p.Gln753His)
c.2178A>T (p.Gln726His)
n.2562A>T
 ClinVar dbSNP
Xg.18619901C>ACA412363464CDKL5c.2311C>A (p.Leu771Ile)
c.2260C>A (p.Leu754Ile)
c.2179C>A (p.Leu727Ile)
n.2563C>A
Xg.18619901C>GCA412363466CDKL5c.2311C>G (p.Leu771Val)
c.2260C>G (p.Leu754Val)
c.2179C>G (p.Leu727Val)
n.2563C>G
Xg.18619901C>TCA412363463CDKL5c.2311C>T (p.Leu771Phe)
c.2260C>T (p.Leu754Phe)
c.2179C>T (p.Leu727Phe)
n.2563C>T
Xg.18619902T>ACA412363470CDKL5c.2312T>A (p.Leu771His)
c.2261T>A (p.Leu754His)
c.2180T>A (p.Leu727His)
n.2564T>A
 COSMIC
Xg.18619902T>CCA412363473CDKL5c.2312T>C (p.Leu771Pro)
c.2261T>C (p.Leu754Pro)
c.2180T>C (p.Leu727Pro)
n.2564T>C
Xg.18619902T>GCA412363472CDKL5c.2312T>G (p.Leu771Arg)
c.2261T>G (p.Leu754Arg)
c.2180T>G (p.Leu727Arg)
n.2564T>G
Xg.18619903C>ACA515470241CDKL5c.2313C>A (p.Leu771=)
c.2262C>A (p.Leu754=)
c.2181C>A (p.Leu727=)
n.2565C>A
Xg.18619903C>GCA515470242CDKL5c.2313C>G (p.Leu771=)
c.2262C>G (p.Leu754=)
c.2181C>G (p.Leu727=)
n.2565C>G
Xg.18619903C>TCA515470243CDKL5c.2313C>T (p.Leu771=)
c.2262C>T (p.Leu754=)
c.2181C>T (p.Leu727=)
n.2565C>T
Xg.18619904A>CCA412363478CDKL5c.2314A>C (p.Lys772Gln)
c.2263A>C (p.Lys755Gln)
c.2182A>C (p.Lys728Gln)
n.2566A>C
 gnomAD v4
Xg.18619904A>GCA412363480CDKL5c.2314A>G (p.Lys772Glu)
c.2263A>G (p.Lys755Glu)
c.2182A>G (p.Lys728Glu)
n.2566A>G
 gnomAD v4
Xg.18619904A>TCA412363482CDKL5c.2314A>T (p.Lys772Ter)
c.2263A>T (p.Lys755Ter)
c.2182A>T (p.Lys728Ter)
n.2566A>T
 gnomAD v4
Xg.18619905delCA2695231357CDKL5c.2315del (p.Lys772ArgfsTer12)
c.2264del (p.Lys755ArgfsTer12)
c.2183del (p.Lys728ArgfsTer12)
n.2567del
Xg.18619905A>CCA412363483CDKL5c.2315A>C (p.Lys772Thr)
c.2264A>C (p.Lys755Thr)
c.2183A>C (p.Lys728Thr)
n.2567A>C
Xg.18619905A>GCA412363484CDKL5c.2315A>G (p.Lys772Arg)
c.2264A>G (p.Lys755Arg)
c.2183A>G (p.Lys728Arg)
n.2567A>G
 gnomAD v4
Xg.18619905A>TCA412363485CDKL5c.2315A>T (p.Lys772Met)
c.2264A>T (p.Lys755Met)
c.2183A>T (p.Lys728Met)
n.2567A>T
Xg.18619906G>ACA515470244CDKL5c.2316G>A (p.Lys772=)
c.2265G>A (p.Lys755=)
c.2184G>A (p.Lys728=)
n.2568G>A
 gnomAD v4
Xg.18619906G>CCA412363489CDKL5c.2316G>C (p.Lys772Asn)
c.2265G>C (p.Lys755Asn)
c.2184G>C (p.Lys728Asn)
n.2568G>C
Xg.18619906G>TCA412363492CDKL5c.2316G>T (p.Lys772Asn)
c.2265G>T (p.Lys755Asn)
c.2184G>T (p.Lys728Asn)
n.2568G>T
Xg.18619907G>ACA412363495CDKL5c.2317G>A (p.Glu773Lys)
c.2266G>A (p.Glu756Lys)
c.2185G>A (p.Glu729Lys)
n.2569G>A
 COSMIC
Xg.18619907G>CCA412363501CDKL5c.2317G>C (p.Glu773Gln)
c.2266G>C (p.Glu756Gln)
c.2185G>C (p.Glu729Gln)
n.2569G>C
Xg.18619907G>TCA412363505CDKL5c.2317G>T (p.Glu773Ter)
c.2266G>T (p.Glu756Ter)
c.2185G>T (p.Glu729Ter)
n.2569G>T
Xg.18619908A=CA2417979424CDKL5c.2318A= (p.Glu773=)
c.2267A= (p.Glu756=)
c.2186A= (p.Glu729=)
n.2570A=
Xg.18619908A>CCA412363508CDKL5c.2318A>C (p.Glu773Ala)
c.2267A>C (p.Glu756Ala)
c.2186A>C (p.Glu729Ala)
n.2570A>C
Xg.18619908A>GCA412363511CDKL5c.2318A>G (p.Glu773Gly)
c.2267A>G (p.Glu756Gly)
c.2186A>G (p.Glu729Gly)
n.2570A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18619908A>TCA412363512CDKL5c.2318A>T (p.Glu773Val)
c.2267A>T (p.Glu756Val)
c.2186A>T (p.Glu729Val)
n.2570A>T
Xg.18619912delCA2579563030CDKL5c.2322del (p.Glu775ArgfsTer9)
c.2271del (p.Glu758ArgfsTer9)
c.2190del (p.Glu731ArgfsTer9)
n.2574del
 gnomAD v4
Xg.18619909A>CCA412363513CDKL5c.2319A>C (p.Glu773Asp)
c.2268A>C (p.Glu756Asp)
c.2187A>C (p.Glu729Asp)
n.2571A>C
Xg.18619909A>GCA515470245CDKL5c.2319A>G (p.Glu773=)
c.2268A>G (p.Glu756=)
c.2187A>G (p.Glu729=)
n.2571A>G
 ClinVar
Xg.18619909A>TCA412363514CDKL5c.2319A>T (p.Glu773Asp)
c.2268A>T (p.Glu756Asp)
c.2187A>T (p.Glu729Asp)
n.2571A>T
Xg.18619910A>CCA412363517CDKL5c.2320A>C (p.Lys774Gln)
c.2269A>C (p.Lys757Gln)
c.2188A>C (p.Lys730Gln)
n.2572A>C
Xg.18619910A>GCA412363520CDKL5c.2320A>G (p.Lys774Glu)
c.2269A>G (p.Lys757Glu)
c.2188A>G (p.Lys730Glu)
n.2572A>G
Xg.18619910A>TCA412363521CDKL5c.2320A>T (p.Lys774Ter)
c.2269A>T (p.Lys757Ter)
c.2188A>T (p.Lys730Ter)
n.2572A>T
Xg.18619911A>CCA412363522CDKL5c.2321A>C (p.Lys774Thr)
c.2270A>C (p.Lys757Thr)
c.2189A>C (p.Lys730Thr)
n.2573A>C
Xg.18619911A>GCA412363523CDKL5c.2321A>G (p.Lys774Arg)
c.2270A>G (p.Lys757Arg)
c.2189A>G (p.Lys730Arg)
n.2573A>G
Xg.18619911A>TCA412363525CDKL5c.2321A>T (p.Lys774Ile)
c.2270A>T (p.Lys757Ile)
c.2189A>T (p.Lys730Ile)
n.2573A>T
Xg.18619911_18619915delinsAAGAGCA2417979425CDKL5c.2321_2325delinsAAGAG (p.Lys774=)
c.2270_2274delinsAAGAG (p.Lys757=)
c.2189_2193delinsAAGAG (p.Lys730=)
n.2573_2577delinsAAGAG
Xg.18619912A>CCA412363528CDKL5c.2322A>C (p.Lys774Asn)
c.2271A>C (p.Lys757Asn)
c.2190A>C (p.Lys730Asn)
n.2574A>C
Xg.18619912A>GCA515470248CDKL5c.2322A>G (p.Lys774=)
c.2271A>G (p.Lys757=)
c.2190A>G (p.Lys730=)
n.2574A>G
 gnomAD v4
Xg.18619912A>TCA412363529CDKL5c.2322A>T (p.Lys774Asn)
c.2271A>T (p.Lys757Asn)
c.2190A>T (p.Lys730Asn)
n.2574A>T
Xg.18619915_18619916delCA170474CDKL5c.2325_2326del (p.Lys776AlafsTer24)
c.2325_2326del (p.Lys776AlafsTer?)
c.2274_2275del (p.Lys759AlafsTer?)
c.2193_2194del (p.Lys732AlafsTer?)
n.2577_2578del
 ClinVar dbSNP
Xg.18619913_18619916delCA294688CDKL5c.2323_2326del (p.Glu775SerfsTer8)
c.2272_2275del (p.Glu758SerfsTer8)
c.2191_2194del (p.Glu731SerfsTer8)
n.2575_2578del
 ClinVar dbSNP
Xg.18619913G>ACA412363532CDKL5c.2323G>A (p.Glu775Lys)
c.2272G>A (p.Glu758Lys)
c.2191G>A (p.Glu731Lys)
n.2575G>A
Xg.18619913G>CCA412363536CDKL5c.2323G>C (p.Glu775Gln)
c.2272G>C (p.Glu758Gln)
c.2191G>C (p.Glu731Gln)
n.2575G>C
Xg.18619913G>TCA412363541CDKL5c.2323G>T (p.Glu775Ter)
c.2272G>T (p.Glu758Ter)
c.2191G>T (p.Glu731Ter)
n.2575G>T
Xg.18619914A>CCA412363544CDKL5c.2324A>C (p.Glu775Ala)
c.2273A>C (p.Glu758Ala)
c.2192A>C (p.Glu731Ala)
n.2576A>C
Xg.18619914A>GCA412363547CDKL5c.2324A>G (p.Glu775Gly)
c.2273A>G (p.Glu758Gly)
c.2192A>G (p.Glu731Gly)
n.2576A>G
Xg.18619914A>TCA412363549CDKL5c.2324A>T (p.Glu775Val)
c.2273A>T (p.Glu758Val)
c.2192A>T (p.Glu731Val)
n.2576A>T
Xg.18619915G>ACA515470252CDKL5c.2325G>A (p.Glu775=)
c.2274G>A (p.Glu758=)
c.2193G>A (p.Glu731=)
n.2577G>A
 gnomAD v4
Xg.18619915G>CCA412363552CDKL5c.2325G>C (p.Glu775Asp)
c.2274G>C (p.Glu758Asp)
c.2193G>C (p.Glu731Asp)
n.2577G>C
Xg.18619915G>TCA412363553CDKL5c.2325G>T (p.Glu775Asp)
c.2274G>T (p.Glu758Asp)
c.2193G>T (p.Glu731Asp)
n.2577G>T
Xg.18619915_18619917delinsGAACA2417979426CDKL5c.2325_2327delinsGAA (p.Glu775=)
c.2274_2276delinsGAA (p.Glu758=)
c.2193_2195delinsGAA (p.Glu731=)
n.2577_2579delinsGAA
Xg.18619916A>CCA412363554CDKL5c.2326A>C (p.Lys776Gln)
c.2275A>C (p.Lys759Gln)
c.2194A>C (p.Lys732Gln)
n.2578A>C
Xg.18619916A>GCA412363555CDKL5c.2326A>G (p.Lys776Glu)
c.2275A>G (p.Lys759Glu)
c.2194A>G (p.Lys732Glu)
n.2578A>G
Xg.18619916A>TCA412363558CDKL5c.2326A>T (p.Lys776Ter)
c.2275A>T (p.Lys759Ter)
c.2194A>T (p.Lys732Ter)
n.2578A>T
Xg.18619916_18619917delCA915950771CDKL5c.2326_2327del (p.Lys776AlafsTer24)
c.2326_2327del (p.Lys776AlafsTer?)
c.2275_2276del (p.Lys759AlafsTer?)
c.2194_2195del (p.Lys732AlafsTer?)
n.2578_2579del
 ClinVar dbSNP
Xg.18619917A>CCA412363560CDKL5c.2327A>C (p.Lys776Thr)
c.2276A>C (p.Lys759Thr)
c.2195A>C (p.Lys732Thr)
n.2579A>C
Xg.18619917A>GCA412363563CDKL5c.2327A>G (p.Lys776Arg)
c.2276A>G (p.Lys759Arg)
c.2195A>G (p.Lys732Arg)
n.2579A>G
Xg.18619917A>TCA412363572CDKL5c.2327A>T (p.Lys776Met)
c.2276A>T (p.Lys759Met)
c.2195A>T (p.Lys732Met)
n.2579A>T
 COSMIC
Xg.18619918G>ACA515470256CDKL5c.2328G>A (p.Lys776=)
c.2277G>A (p.Lys759=)
c.2196G>A (p.Lys732=)
n.2580G>A
Xg.18619918G>CCA412363576CDKL5c.2328G>C (p.Lys776Asn)
c.2277G>C (p.Lys759Asn)
c.2196G>C (p.Lys732Asn)
n.2580G>C
Xg.18619918G>TCA412363579CDKL5c.2328G>T (p.Lys776Asn)
c.2277G>T (p.Lys759Asn)
c.2196G>T (p.Lys732Asn)
n.2580G>T
Xg.18619919C>ACA327007690CDKL5c.2329C>A (p.Gln777Lys)
c.2278C>A (p.Gln760Lys)
c.2197C>A (p.Gln733Lys)
n.2581C>A
 dbSNP
Xg.18619919C=CA2417979427CDKL5c.2329C= (p.Gln777=)
c.2278C= (p.Gln760=)
c.2197C= (p.Gln733=)
n.2581C=
Xg.18619919C>GCA412363583CDKL5c.2329C>G (p.Gln777Glu)
c.2278C>G (p.Gln760Glu)
c.2197C>G (p.Gln733Glu)
n.2581C>G
Xg.18619919C>TCA412363586CDKL5c.2329C>T (p.Gln777Ter)
c.2278C>T (p.Gln760Ter)
c.2197C>T (p.Gln733Ter)
n.2581C>T
Xg.18619920A>CCA412363598CDKL5c.2330A>C (p.Gln777Pro)
c.2279A>C (p.Gln760Pro)
c.2198A>C (p.Gln733Pro)
n.2582A>C
Xg.18619920A>GCA412363602CDKL5c.2330A>G (p.Gln777Arg)
c.2279A>G (p.Gln760Arg)
c.2198A>G (p.Gln733Arg)
n.2582A>G
Xg.18619920A>TCA412363605CDKL5c.2330A>T (p.Gln777Leu)
c.2279A>T (p.Gln760Leu)
c.2198A>T (p.Gln733Leu)
n.2582A>T
Xg.18619921A>CCA412363609CDKL5c.2331A>C (p.Gln777His)
c.2280A>C (p.Gln760His)
c.2199A>C (p.Gln733His)
n.2583A>C
Xg.18619921A>GCA515470258CDKL5c.2331A>G (p.Gln777=)
c.2280A>G (p.Gln760=)
c.2199A>G (p.Gln733=)
n.2583A>G
Xg.18619921A>TCA412363612CDKL5c.2331A>T (p.Gln777His)
c.2280A>T (p.Gln760His)
c.2199A>T (p.Gln733His)
n.2583A>T
Xg.18619922G>ACA412363615CDKL5c.2332G>A (p.Gly778Arg)
c.2281G>A (p.Gly761Arg)
c.2200G>A (p.Gly734Arg)
n.2584G>A
 ClinVar
Xg.18619922G>CCA412363622CDKL5c.2332G>C (p.Gly778Arg)
c.2281G>C (p.Gly761Arg)
c.2200G>C (p.Gly734Arg)
n.2584G>C
Xg.18619922G>TCA412363625CDKL5c.2332G>T (p.Gly778Ter)
c.2281G>T (p.Gly761Ter)
c.2200G>T (p.Gly734Ter)
n.2584G>T
 COSMIC
Xg.18619923G>ACA412363636CDKL5c.2333G>A (p.Gly778Glu)
c.2282G>A (p.Gly761Glu)
c.2201G>A (p.Gly734Glu)
n.2585G>A
Xg.18619923G>CCA412363650CDKL5c.2333G>C (p.Gly778Ala)
c.2282G>C (p.Gly761Ala)
c.2201G>C (p.Gly734Ala)
n.2585G>C
 COSMIC
Xg.18619923G>TCA412363653CDKL5c.2333G>T (p.Gly778Val)
c.2282G>T (p.Gly761Val)
c.2201G>T (p.Gly734Val)
n.2585G>T
Xg.18619924A>CCA515470262CDKL5c.2334A>C (p.Gly778=)
c.2283A>C (p.Gly761=)
c.2202A>C (p.Gly734=)
n.2586A>C
Xg.18619924A>GCA515470263CDKL5c.2334A>G (p.Gly778=)
c.2283A>G (p.Gly761=)
c.2202A>G (p.Gly734=)
n.2586A>G
Xg.18619924A>TCA515470264CDKL5c.2334A>T (p.Gly778=)
c.2283A>T (p.Gly761=)
c.2202A>T (p.Gly734=)
n.2586A>T
Xg.18619925T>ACA412363665CDKL5c.2335T>A (p.Phe779Ile)
c.2284T>A (p.Phe762Ile)
c.2203T>A (p.Phe735Ile)
n.2587T>A
Xg.18619925T>CCA412363674CDKL5c.2335T>C (p.Phe779Leu)
c.2284T>C (p.Phe762Leu)
c.2203T>C (p.Phe735Leu)
n.2587T>C
Xg.18619925T>GCA412363663CDKL5c.2335T>G (p.Phe779Val)
c.2284T>G (p.Phe762Val)
c.2203T>G (p.Phe735Val)
n.2587T>G
Xg.18619926T>ACA412363678CDKL5c.2336T>A (p.Phe779Tyr)
c.2285T>A (p.Phe762Tyr)
c.2204T>A (p.Phe735Tyr)
n.2588T>A
Xg.18619926T>CCA412363680CDKL5c.2336T>C (p.Phe779Ser)
c.2285T>C (p.Phe762Ser)
c.2204T>C (p.Phe735Ser)
n.2588T>C
Xg.18619926T>GCA412363687CDKL5c.2336T>G (p.Phe779Cys)
c.2285T>G (p.Phe762Cys)
c.2204T>G (p.Phe735Cys)
n.2588T>G
Xg.18619927T>ACA412363689CDKL5c.2337T>A (p.Phe779Leu)
c.2286T>A (p.Phe762Leu)
c.2205T>A (p.Phe735Leu)
n.2589T>A
Xg.18619927T>CCA515470266CDKL5c.2337T>C (p.Phe779=)
c.2286T>C (p.Phe762=)
c.2205T>C (p.Phe735=)
n.2589T>C
Xg.18619927T>GCA412363692CDKL5c.2337T>G (p.Phe779Leu)
c.2286T>G (p.Phe762Leu)
c.2205T>G (p.Phe735Leu)
n.2589T>G
Xg.18619928T>ACA412363698CDKL5c.2338T>A (p.Phe780Ile)
c.2287T>A (p.Phe763Ile)
c.2206T>A (p.Phe736Ile)
n.2590T>A
Xg.18619928T>CCA412363697CDKL5c.2338T>C (p.Phe780Leu)
c.2287T>C (p.Phe763Leu)
c.2206T>C (p.Phe736Leu)
n.2590T>C
Xg.18619928T>GCA412363696CDKL5c.2338T>G (p.Phe780Val)
c.2287T>G (p.Phe763Val)
c.2206T>G (p.Phe736Val)
n.2590T>G
Xg.18619929T>ACA412363699CDKL5c.2339T>A (p.Phe780Tyr)
c.2288T>A (p.Phe763Tyr)
c.2207T>A (p.Phe736Tyr)
n.2591T>A
Xg.18619929T>CCA412363700CDKL5c.2339T>C (p.Phe780Ser)
c.2288T>C (p.Phe763Ser)
c.2207T>C (p.Phe736Ser)
n.2591T>C
Xg.18619929T>GCA412363702CDKL5c.2339T>G (p.Phe780Cys)
c.2288T>G (p.Phe763Cys)
c.2207T>G (p.Phe736Cys)
n.2591T>G
Xg.18619930C>ACA412363703CDKL5c.2340C>A (p.Phe780Leu)
c.2289C>A (p.Phe763Leu)
c.2208C>A (p.Phe736Leu)
n.2592C>A
 gnomAD v4
Xg.18619930C>GCA412363704CDKL5c.2340C>G (p.Phe780Leu)
c.2289C>G (p.Phe763Leu)
c.2208C>G (p.Phe736Leu)
n.2592C>G
Xg.18619930C>TCA515470269CDKL5c.2340C>T (p.Phe780=)
c.2289C>T (p.Phe763=)
c.2208C>T (p.Phe736=)
n.2592C>T
Xg.18619931A>CCA515470270CDKL5c.2341A>C (p.Arg781=)
c.2290A>C (p.Arg764=)
c.2209A>C (p.Arg737=)
n.2593A>C
Xg.18619931A>GCA412363705CDKL5c.2341A>G (p.Arg781Gly)
c.2290A>G (p.Arg764Gly)
c.2209A>G (p.Arg737Gly)
n.2593A>G
 gnomAD v4
Xg.18619931A>TCA412363707CDKL5c.2341A>T (p.Arg781Trp)
c.2290A>T (p.Arg764Trp)
c.2209A>T (p.Arg737Trp)
n.2593A>T
 gnomAD v4
Xg.18619931_18619932delinsAGCA2417979428CDKL5c.2341_2342delinsAG (p.Arg781=)
c.2290_2291delinsAG (p.Arg764=)
c.2209_2210delinsAG (p.Arg737=)
n.2593_2594delinsAG
Xg.18619932G>ACA412363710CDKL5c.2342G>A (p.Arg781Lys)
c.2291G>A (p.Arg764Lys)
c.2210G>A (p.Arg737Lys)
n.2594G>A
Xg.18619932G>CCA412363728CDKL5c.2342G>C (p.Arg781Thr)
c.2291G>C (p.Arg764Thr)
c.2210G>C (p.Arg737Thr)
n.2594G>C
Xg.18619932G>TCA412363723CDKL5c.2342G>T (p.Arg781Met)
c.2291G>T (p.Arg764Met)
c.2210G>T (p.Arg737Met)
n.2594G>T
Xg.18619933delCA170475CDKL5c.2343del (p.Arg781SerfsTer3)
c.2292del (p.Arg764SerfsTer3)
c.2211del (p.Arg737SerfsTer3)
n.2595del
 ClinVar dbSNP
Xg.18619933G>ACA515470274CDKL5c.2343G>A (p.Arg781=)
c.2292G>A (p.Arg764=)
c.2211G>A (p.Arg737=)
n.2595G>A
 gnomAD v4
Xg.18619933G>CCA412363732CDKL5c.2343G>C (p.Arg781Ser)
c.2292G>C (p.Arg764Ser)
c.2211G>C (p.Arg737Ser)
n.2595G>C
Xg.18619933G>TCA412363736CDKL5c.2343G>T (p.Arg781Ser)
c.2292G>T (p.Arg764Ser)
c.2211G>T (p.Arg737Ser)
n.2595G>T
Xg.18619934T>ACA412363739CDKL5c.2344T>A (p.Ser782Thr)
c.2293T>A (p.Ser765Thr)
c.2212T>A (p.Ser738Thr)
n.2596T>A
Xg.18619934T>CCA412363742CDKL5c.2344T>C (p.Ser782Pro)
c.2293T>C (p.Ser765Pro)
c.2212T>C (p.Ser738Pro)
n.2596T>C
Xg.18619934T>GCA412363747CDKL5c.2344T>G (p.Ser782Ala)
c.2293T>G (p.Ser765Ala)
c.2212T>G (p.Ser738Ala)
n.2596T>G
Xg.18619935delCA2738437361CDKL5c.2345del (p.Ser782Ter)
c.2294del (p.Ser765Ter)
c.2213del (p.Ser738Ter)
n.2597del
 dbSNP
Xg.18619935C>ACA412363752CDKL5c.2345C>A (p.Ser782Ter)
c.2294C>A (p.Ser765Ter)
c.2213C>A (p.Ser738Ter)
n.2597C>A
 ClinVar dbSNP gnomAD v4
Xg.18619935C=CA2417979429CDKL5c.2345C= (p.Ser782=)
c.2294C= (p.Ser765=)
c.2213C= (p.Ser738=)
n.2597C=
Xg.18619935C>GCA412363753CDKL5c.2345C>G (p.Ser782Ter)
c.2294C>G (p.Ser765Ter)
c.2213C>G (p.Ser738Ter)
n.2597C>G
 ClinVar dbSNP
Xg.18619935C>TCA412363755CDKL5c.2345C>T (p.Ser782Leu)
c.2294C>T (p.Ser765Leu)
c.2213C>T (p.Ser738Leu)
n.2597C>T
Xg.18619936A>CCA515470276CDKL5c.2346A>C (p.Ser782=)
c.2295A>C (p.Ser765=)
c.2214A>C (p.Ser738=)
n.2598A>C
Xg.18619936A>GCA515470277CDKL5c.2346A>G (p.Ser782=)
c.2295A>G (p.Ser765=)
c.2214A>G (p.Ser738=)
n.2598A>G
 gnomAD v4
Xg.18619936A>TCA515470278CDKL5c.2346A>T (p.Ser782=)
c.2295A>T (p.Ser765=)
c.2214A>T (p.Ser738=)
n.2598A>T
Xg.18619938_18619943dupCA2693223300CDKL5c.2348_2353dup (p.Lys784_Lys785insMetLys)
c.2348_2353dup (p.Lys784_X785insMetLys)
c.2297_2302dup (p.Lys767_Lys768insMetLys)
c.2216_2221dup (p.Lys740_Lys741insMetLys)
n.2600_2605dup
 gnomAD v4
Xg.18619937A=CA2417979430CDKL5c.2347A= (p.Met783=)
c.2296A= (p.Met766=)
c.2215A= (p.Met739=)
n.2599A=
Xg.18619937A>CCA412363759CDKL5c.2347A>C (p.Met783Leu)
c.2296A>C (p.Met766Leu)
c.2215A>C (p.Met739Leu)
n.2599A>C
Xg.18619937A>GCA412363763CDKL5c.2347A>G (p.Met783Val)
c.2296A>G (p.Met766Val)
c.2215A>G (p.Met739Val)
n.2599A>G
Xg.18619937A>TCA10360527CDKL5c.2347A>T (p.Met783Leu)
c.2296A>T (p.Met766Leu)
c.2215A>T (p.Met739Leu)
n.2599A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619938T>ACA412363767CDKL5c.2348T>A (p.Met783Lys)
c.2297T>A (p.Met766Lys)
c.2216T>A (p.Met739Lys)
n.2600T>A
Xg.18619938T>CCA412363780CDKL5c.2348T>C (p.Met783Thr)
c.2297T>C (p.Met766Thr)
c.2216T>C (p.Met739Thr)
n.2600T>C
Xg.18619938T>GCA412363777CDKL5c.2348T>G (p.Met783Arg)
c.2297T>G (p.Met766Arg)
c.2216T>G (p.Met739Arg)
n.2600T>G
Xg.18619939G>ACA412363783CDKL5c.2349G>A (p.Met783Ile)
c.2298G>A (p.Met766Ile)
c.2217G>A (p.Met739Ile)
n.2601G>A
Xg.18619939G>CCA412363788CDKL5c.2349G>C (p.Met783Ile)
c.2298G>C (p.Met766Ile)
c.2217G>C (p.Met739Ile)
n.2601G>C
Xg.18619939G>TCA412363790CDKL5c.2349G>T (p.Met783Ile)
c.2298G>T (p.Met766Ile)
c.2217G>T (p.Met739Ile)
n.2601G>T
Xg.18619940A>CCA412363795CDKL5c.2350A>C (p.Lys784Gln)
c.2299A>C (p.Lys767Gln)
c.2218A>C (p.Lys740Gln)
n.2602A>C
Xg.18619940A>GCA412363798CDKL5c.2350A>G (p.Lys784Glu)
c.2299A>G (p.Lys767Glu)
c.2218A>G (p.Lys740Glu)
n.2602A>G
 gnomAD v4
Xg.18619940A>TCA412363805CDKL5c.2350A>T (p.Lys784Ter)
c.2299A>T (p.Lys767Ter)
c.2218A>T (p.Lys740Ter)
n.2602A>T
Xg.18619944dupCA645620506CDKL5c.2354dup (p.Lys786GlufsTer15)
c.2354dup (p.Lys786GlufsTer27)
c.2303dup (p.Lys769GlufsTer27)
c.2222dup (p.Lys742GlufsTer27)
n.2606dup
 COSMIC
Xg.18619944delCA2579563031CDKL5c.2354del (p.Lys785ArgfsTer18)
c.2354del (p.Lys785ArgfsTer?)
c.2354del
c.2303del (p.Lys768ArgfsTer?)
c.2222del (p.Lys741ArgfsTer?)
n.2606del
Xg.18619941A>CCA412363812CDKL5c.2351A>C (p.Lys784Thr)
c.2300A>C (p.Lys767Thr)
c.2219A>C (p.Lys740Thr)
n.2603A>C
Xg.18619941A>GCA412363808CDKL5c.2351A>G (p.Lys784Arg)
c.2300A>G (p.Lys767Arg)
c.2219A>G (p.Lys740Arg)
n.2603A>G
Xg.18619941A>TCA412363809CDKL5c.2351A>T (p.Lys784Ile)
c.2300A>T (p.Lys767Ile)
c.2219A>T (p.Lys740Ile)
n.2603A>T
Xg.18619941_18619945delinsAAAAGCA2417979431CDKL5c.2351_2355delinsAAAAG (p.Lys784=)
c.2300_2304delinsAAAAG (p.Lys767=)
c.2219_2223delinsAAAAG (p.Lys740=)
n.2603_2607delinsAAAAG
Xg.18619942A>CCA412363817CDKL5c.2352A>C (p.Lys784Asn)
c.2301A>C (p.Lys767Asn)
c.2220A>C (p.Lys740Asn)
n.2604A>C
Xg.18619942A>GCA515470279CDKL5c.2352A>G (p.Lys784=)
c.2301A>G (p.Lys767=)
c.2220A>G (p.Lys740=)
n.2604A>G
 gnomAD v4
Xg.18619942A>TCA412363822CDKL5c.2352A>T (p.Lys784Asn)
c.2301A>T (p.Lys767Asn)
c.2220A>T (p.Lys740Asn)
n.2604A>T
Xg.18619945_18619948delCA916083848CDKL5c.2355_2358del (p.Lys786ArgfsTer16)
c.2355_2358del (p.Lys786ArgfsTer?)
c.2304_2307del (p.Lys769ArgfsTer?)
c.2223_2226del (p.Lys742ArgfsTer?)
n.2607_2610del
 ClinVar dbSNP
Xg.18619943A>CCA412363828CDKL5c.2353A>C (p.Lys785Gln)
c.2353A>C
c.2302A>C (p.Lys768Gln)
c.2221A>C (p.Lys741Gln)
n.2605A>C
Xg.18619943A>GCA412363829CDKL5c.2353A>G (p.Lys785Glu)
c.2353A>G
c.2302A>G (p.Lys768Glu)
c.2221A>G (p.Lys741Glu)
n.2605A>G
Xg.18619943A>TCA412363830CDKL5c.2353A>T (p.Lys785Ter)
c.2353A>T
c.2302A>T (p.Lys768Ter)
c.2221A>T (p.Lys741Ter)
n.2605A>T
Xg.18619945_18619947delCA2740092050CDKL5c.2355_2357del (p.Lys786del)
c.2304_2306del (p.Lys769del)
c.2223_2225del (p.Lys742del)
n.2607_2609del
 ClinVar
Xg.18619944A>CCA412363831CDKL5c.2354A>C (p.Lys785Thr)
c.2354A>C
c.2303A>C (p.Lys768Thr)
c.2222A>C (p.Lys741Thr)
n.2606A>C
 ClinVar
Xg.18619944A>GCA412363833CDKL5c.2354A>G (p.Lys785Arg)
c.2354A>G
c.2303A>G (p.Lys768Arg)
c.2222A>G (p.Lys741Arg)
n.2606A>G
 gnomAD v4
Xg.18619944A>TCA412363832CDKL5c.2354A>T (p.Lys785Met)
c.2354A>T
c.2303A>T (p.Lys768Met)
c.2222A>T (p.Lys741Met)
n.2606A>T
Xg.18619945G>ACA515470282CDKL5c.2355G>A (p.Lys785=)
c.2304G>A (p.Lys768=)
c.2223G>A (p.Lys741=)
n.2607G>A
 COSMIC
Xg.18619945G>CCA412363841CDKL5c.2355G>C (p.Lys785Asn)
c.2304G>C (p.Lys768Asn)
c.2223G>C (p.Lys741Asn)
n.2607G>C
Xg.18619945G>TCA412363842CDKL5c.2355G>T (p.Lys785Asn)
c.2304G>T (p.Lys768Asn)
c.2223G>T (p.Lys741Asn)
n.2607G>T
Xg.18619946A>CCA412363852CDKL5c.2356A>C (p.Lys786Gln)
c.2305A>C (p.Lys769Gln)
c.2224A>C (p.Lys742Gln)
n.2608A>C
Xg.18619946A>GCA412363854CDKL5c.2356A>G (p.Lys786Glu)
c.2305A>G (p.Lys769Glu)
c.2224A>G (p.Lys742Glu)
n.2608A>G
 gnomAD v4
Xg.18619946A>TCA412363857CDKL5c.2356A>T (p.Lys786Ter)
c.2305A>T (p.Lys769Ter)
c.2224A>T (p.Lys742Ter)
n.2608A>T
Xg.18619950delCA2579563032CDKL5c.2360del (p.Lys787ArgfsTer16)
c.2360del (p.Lys787ArgfsTer?)
c.2309del (p.Lys770ArgfsTer?)
c.2228del (p.Lys743ArgfsTer?)
n.2612del
 gnomAD v4
Xg.18619946_18619951delinsAAAAAGCA2417979432CDKL5c.2356_2361delinsAAAAAG (p.Lys786=)
c.2305_2310delinsAAAAAG (p.Lys769=)
c.2224_2229delinsAAAAAG (p.Lys742=)
n.2608_2613delinsAAAAAG
Xg.18619947A>CCA412363860CDKL5c.2357A>C (p.Lys786Thr)
c.2306A>C (p.Lys769Thr)
c.2225A>C (p.Lys742Thr)
n.2609A>C
Xg.18619947A>GCA412363865CDKL5c.2357A>G (p.Lys786Arg)
c.2306A>G (p.Lys769Arg)
c.2225A>G (p.Lys742Arg)
n.2609A>G
 gnomAD v4
Xg.18619947A>TCA412363866CDKL5c.2357A>T (p.Lys786Ile)
c.2306A>T (p.Lys769Ile)
c.2225A>T (p.Lys742Ile)
n.2609A>T
 gnomAD v4
Xg.18619947_18619951delinsAAAAGCA2417979433CDKL5c.2357_2361delinsAAAAG (p.Lys786=)
c.2306_2310delinsAAAAG (p.Lys769=)
c.2225_2229delinsAAAAG (p.Lys742=)
n.2609_2613delinsAAAAG
Xg.18619949_18619953delCA645372671CDKL5c.2359_2363del (p.Lys787GlufsTer12)
c.2359_2363del (p.Lys787GlufsTer24)
c.2308_2312del (p.Lys770GlufsTer24)
c.2227_2231del (p.Lys743GlufsTer24)
n.2611_2615del
 ClinVar dbSNP
Xg.18619948A>CCA412363867CDKL5c.2358A>C (p.Lys786Asn)
c.2307A>C (p.Lys769Asn)
c.2226A>C (p.Lys742Asn)
n.2610A>C
Xg.18619948A>GCA515470289CDKL5c.2358A>G (p.Lys786=)
c.2307A>G (p.Lys769=)
c.2226A>G (p.Lys742=)
n.2610A>G
Xg.18619948A>TCA412363868CDKL5c.2358A>T (p.Lys786Asn)
c.2307A>T (p.Lys769Asn)
c.2226A>T (p.Lys742Asn)
n.2610A>T
Xg.18619950_18619953delCA294689CDKL5c.2360_2363del (p.Lys787ArgfsTer15)
c.2360_2363del (p.Lys787ArgfsTer30)
c.2309_2312del (p.Lys770ArgfsTer30)
c.2228_2231del (p.Lys743ArgfsTer30)
n.2612_2615del
 ClinVar dbSNP
Xg.18619949A>CCA412363875CDKL5c.2359A>C (p.Lys787Gln)
c.2308A>C (p.Lys770Gln)
c.2227A>C (p.Lys743Gln)
n.2611A>C
Xg.18619949A>GCA412363871CDKL5c.2359A>G (p.Lys787Glu)
c.2308A>G (p.Lys770Glu)
c.2227A>G (p.Lys743Glu)
n.2611A>G
 gnomAD v4
Xg.18619949A>TCA412363873CDKL5c.2359A>T (p.Lys787Ter)
c.2308A>T (p.Lys770Ter)
c.2227A>T (p.Lys743Ter)
n.2611A>T
Xg.18619950A>CCA412363889CDKL5c.2360A>C (p.Lys787Thr)
c.2309A>C (p.Lys770Thr)
c.2228A>C (p.Lys743Thr)
n.2612A>C
Xg.18619950A>GCA412363891CDKL5c.2360A>G (p.Lys787Arg)
c.2309A>G (p.Lys770Arg)
c.2228A>G (p.Lys743Arg)
n.2612A>G
 gnomAD v4
Xg.18619950A>TCA412363898CDKL5c.2360A>T (p.Lys787Met)
c.2309A>T (p.Lys770Met)
c.2228A>T (p.Lys743Met)
n.2612A>T
Xg.18619951G>ACA515470291CDKL5c.2361G>A (p.Lys787=)
c.2310G>A (p.Lys770=)
c.2229G>A (p.Lys743=)
n.2613G>A
 gnomAD v4
Xg.18619951G>CCA412363904CDKL5c.2361G>C (p.Lys787Asn)
c.2310G>C (p.Lys770Asn)
c.2229G>C (p.Lys743Asn)
n.2613G>C
Xg.18619951G>TCA412363901CDKL5c.2361G>T (p.Lys787Asn)
c.2310G>T (p.Lys770Asn)
c.2229G>T (p.Lys743Asn)
n.2613G>T
 COSMIC
Xg.18619951_18619956delinsGAAGAACA2417979434CDKL5c.2361_2366delinsGAAGAA (p.Lys787=)
c.2310_2315delinsGAAGAA (p.Lys770=)
c.2229_2234delinsGAAGAA (p.Lys743=)
n.2613_2618delinsGAAGAA
Xg.18619952A>CCA412363909CDKL5c.2362A>C (p.Lys788Gln)
c.2311A>C (p.Lys771Gln)
c.2230A>C (p.Lys744Gln)
n.2614A>C
Xg.18619952A>GCA412363908CDKL5c.2362A>G (p.Lys788Glu)
c.2311A>G (p.Lys771Glu)
c.2230A>G (p.Lys744Glu)
n.2614A>G
Xg.18619952A>TCA412363910CDKL5c.2362A>T (p.Lys788Ter)
c.2311A>T (p.Lys771Ter)
c.2230A>T (p.Lys744Ter)
n.2614A>T
Xg.18619953_18619957delCA170476CDKL5c.2363_2367del (p.Lys788IlefsTer11)
c.2363_2367del (p.Lys788IlefsTer23)
c.2312_2316del (p.Lys771IlefsTer23)
c.2231_2235del (p.Lys744IlefsTer23)
n.2615_2619del
 ClinVar dbSNP
Xg.18619953A>CCA412363915CDKL5c.2363A>C (p.Lys788Thr)
c.2312A>C (p.Lys771Thr)
c.2231A>C (p.Lys744Thr)
n.2615A>C
Xg.18619953A>GCA412363912CDKL5c.2363A>G (p.Lys788Arg)
c.2312A>G (p.Lys771Arg)
c.2231A>G (p.Lys744Arg)
n.2615A>G
 gnomAD v4
Xg.18619953A>TCA412363918CDKL5c.2363A>T (p.Lys788Met)
c.2312A>T (p.Lys771Met)
c.2231A>T (p.Lys744Met)
n.2615A>T
Xg.18619954G>ACA515470294CDKL5c.2364G>A (p.Lys788=)
c.2313G>A (p.Lys771=)
c.2232G>A (p.Lys744=)
n.2616G>A
Xg.18619954G>CCA412363923CDKL5c.2364G>C (p.Lys788Asn)
c.2313G>C (p.Lys771Asn)
c.2232G>C (p.Lys744Asn)
n.2616G>C
 gnomAD v4
Xg.18619954G>TCA412363925CDKL5c.2364G>T (p.Lys788Asn)
c.2313G>T (p.Lys771Asn)
c.2232G>T (p.Lys744Asn)
n.2616G>T
Xg.18619955A>CCA412363927CDKL5c.2365A>C (p.Lys789Gln)
c.2314A>C (p.Lys772Gln)
c.2233A>C (p.Lys745Gln)
n.2617A>C
Xg.18619955A>GCA412363929CDKL5c.2365A>G (p.Lys789Glu)
c.2314A>G (p.Lys772Glu)
c.2233A>G (p.Lys745Glu)
n.2617A>G
 gnomAD v4
Xg.18619955A>TCA412363930CDKL5c.2365A>T (p.Lys789Ter)
c.2314A>T (p.Lys772Ter)
c.2233A>T (p.Lys745Ter)
n.2617A>T
Xg.18619956A>CCA412363935CDKL5c.2366A>C (p.Lys789Thr)
c.2315A>C (p.Lys772Thr)
c.2234A>C (p.Lys745Thr)
n.2618A>C
Xg.18619956A>GCA412363937CDKL5c.2366A>G (p.Lys789Arg)
c.2315A>G (p.Lys772Arg)
c.2234A>G (p.Lys745Arg)
n.2618A>G
 gnomAD v4
Xg.18619956A>TCA412363941CDKL5c.2366A>T (p.Lys789Ile)
c.2315A>T (p.Lys772Ile)
c.2234A>T (p.Lys745Ile)
n.2618A>T
Xg.18619957A>CCA412363944CDKL5c.2367A>C (p.Lys789Asn)
c.2316A>C (p.Lys772Asn)
c.2235A>C (p.Lys745Asn)
n.2619A>C
 gnomAD v4
Xg.18619957A>GCA515470297CDKL5c.2367A>G (p.Lys789=)
c.2316A>G (p.Lys772=)
c.2235A>G (p.Lys745=)
n.2619A>G
Xg.18619957A>TCA412363948CDKL5c.2367A>T (p.Lys789Asn)
c.2316A>T (p.Lys772Asn)
c.2235A>T (p.Lys745Asn)
n.2619A>T
Xg.18619958T>ACA412363949CDKL5c.2368T>A (p.Ser790Thr)
c.2317T>A (p.Ser773Thr)
c.2236T>A (p.Ser746Thr)
n.2620T>A
Xg.18619958T>CCA412363950CDKL5c.2368T>C (p.Ser790Pro)
c.2317T>C (p.Ser773Pro)
c.2236T>C (p.Ser746Pro)
n.2620T>C
Xg.18619958T>GCA412363951CDKL5c.2368T>G (p.Ser790Ala)
c.2317T>G (p.Ser773Ala)
c.2236T>G (p.Ser746Ala)
n.2620T>G
Xg.18619959C>ACA412363960CDKL5c.2369C>A (p.Ser790Tyr)
c.2318C>A (p.Ser773Tyr)
c.2237C>A (p.Ser746Tyr)
n.2621C>A
 gnomAD v4
Xg.18619959C>GCA412363953CDKL5c.2369C>G (p.Ser790Cys)
c.2318C>G (p.Ser773Cys)
c.2237C>G (p.Ser746Cys)
n.2621C>G
Xg.18619959C>TCA412363956CDKL5c.2369C>T (p.Ser790Phe)
c.2318C>T (p.Ser773Phe)
c.2237C>T (p.Ser746Phe)
n.2621C>T
 COSMIC
Xg.18619960T>ACA515470301CDKL5c.2370T>A (p.Ser790=)
c.2319T>A (p.Ser773=)
c.2238T>A (p.Ser746=)
n.2622T>A
 dbSNP gnomAD v2
Xg.18619960T>CCA515470302CDKL5c.2370T>C (p.Ser790=)
c.2319T>C (p.Ser773=)
c.2238T>C (p.Ser746=)
n.2622T>C
 gnomAD v4
Xg.18619960T>GCA515470303CDKL5c.2370T>G (p.Ser790=)
c.2319T>G (p.Ser773=)
c.2238T>G (p.Ser746=)
n.2622T>G
Xg.18619960T=CA2417979435CDKL5c.2370T= (p.Ser790=)
c.2319T= (p.Ser773=)
c.2238T= (p.Ser746=)
n.2622T=
Xg.18619961C>ACA412363965CDKL5c.2371C>A (p.Gln791Lys)
c.2320C>A (p.Gln774Lys)
c.2239C>A (p.Gln747Lys)
n.2623C>A
 gnomAD v4
Xg.18619961C=CA2417979436CDKL5c.2371C= (p.Gln791=)
c.2320C= (p.Gln774=)
c.2239C= (p.Gln747=)
n.2623C=
Xg.18619961C>GCA412363968CDKL5c.2371C>G (p.Gln791Glu)
c.2320C>G (p.Gln774Glu)
c.2239C>G (p.Gln747Glu)
n.2623C>G
 ClinVar dbSNP
Xg.18619961C>TCA412363970CDKL5c.2371C>T (p.Gln791Ter)
c.2320C>T (p.Gln774Ter)
c.2239C>T (p.Gln747Ter)
n.2623C>T
 ClinVar dbSNP gnomAD v4
Xg.18619962A=CA2417979437CDKL5c.2372A= (p.Gln791=)
c.2321A= (p.Gln774=)
c.2240A= (p.Gln747=)
n.2624A=
Xg.18619962A>CCA213376CDKL5c.2372A>C (p.Gln791Pro)
c.2321A>C (p.Gln774Pro)
c.2240A>C (p.Gln747Pro)
n.2624A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619962A>GCA412363977CDKL5c.2372A>G (p.Gln791Arg)
c.2321A>G (p.Gln774Arg)
c.2240A>G (p.Gln747Arg)
n.2624A>G
Xg.18619962A>TCA412363980CDKL5c.2372A>T (p.Gln791Leu)
c.2321A>T (p.Gln774Leu)
c.2240A>T (p.Gln747Leu)
n.2624A>T
Xg.18619964dupCA915950772CDKL5c.2374dup (p.Thr792AsnfsTer9)
c.2374dup (p.Thr792AsnfsTer21)
c.2323dup (p.Thr775AsnfsTer21)
c.2242dup (p.Thr748AsnfsTer21)
n.2626dup
 ClinVar dbSNP
Xg.18619963A>CCA412363988CDKL5c.2373A>C (p.Gln791His)
c.2322A>C (p.Gln774His)
c.2241A>C (p.Gln747His)
n.2625A>C
Xg.18619963A>GCA515470305CDKL5c.2373A>G (p.Gln791=)
c.2322A>G (p.Gln774=)
c.2241A>G (p.Gln747=)
n.2625A>G
 gnomAD v4
Xg.18619963A>TCA412363991CDKL5c.2373A>T (p.Gln791His)
c.2322A>T (p.Gln774His)
c.2241A>T (p.Gln747His)
n.2625A>T
Xg.18619964A=CA2417979438CDKL5c.2374A= (p.Thr792=)
c.2323A= (p.Thr775=)
c.2242A= (p.Thr748=)
n.2626A=
Xg.18619964A>CCA412363994CDKL5c.2374A>C (p.Thr792Pro)
c.2323A>C (p.Thr775Pro)
c.2242A>C (p.Thr748Pro)
n.2626A>C
Xg.18619964A>GCA412363996CDKL5c.2374A>G (p.Thr792Ala)
c.2323A>G (p.Thr775Ala)
c.2242A>G (p.Thr748Ala)
n.2626A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18619964A>TCA412363999CDKL5c.2374A>T (p.Thr792Ser)
c.2323A>T (p.Thr775Ser)
c.2242A>T (p.Thr748Ser)
n.2626A>T
Xg.18619965C>ACA412364007CDKL5c.2375C>A (p.Thr792Lys)
c.2324C>A (p.Thr775Lys)
c.2243C>A (p.Thr748Lys)
n.2627C>A
 gnomAD v4
Xg.18619965C>GCA412364028CDKL5c.2375C>G (p.Thr792Arg)
c.2324C>G (p.Thr775Arg)
c.2243C>G (p.Thr748Arg)
n.2627C>G
 ClinVar
Xg.18619965C>TCA412364002CDKL5c.2375C>T (p.Thr792Ile)
c.2324C>T (p.Thr775Ile)
c.2243C>T (p.Thr748Ile)
n.2627C>T
Xg.18619966delCA2695231359CDKL5c.2376del (p.Val793TyrfsTer10)
c.2376del (p.Thr793GlnfsTer25)
c.2325del (p.Thr776GlnfsTer25)
c.2244del (p.Thr749GlnfsTer25)
n.2628del
Xg.18619966A>CCA515470309CDKL5c.2376A>C (p.Thr792=)
c.2325A>C (p.Thr775=)
c.2244A>C (p.Thr748=)
n.2628A>C
Xg.18619966A>GCA515470310CDKL5c.2376A>G (p.Thr792=)
c.2325A>G (p.Thr775=)
c.2244A>G (p.Thr748=)
n.2628A>G
 gnomAD v4
Xg.18619966A>TCA515470311CDKL5c.2376A>T (p.Thr792=)
c.2325A>T (p.Thr775=)
c.2244A>T (p.Thr748=)
n.2628A>T
Xg.18619967G>ACA199390CDKL5c.2376+1G>A (n.2376+1G>A)
c.2325+1G>A (n.2325+1G>A)
c.2244+1G>A (n.2244+1G>A)
n.2628+1G>A
 ClinVar dbSNP gnomAD v4
Xg.18619967G>CCA199391CDKL5c.2376+1G>C (n.2376+1G>C)
c.2325+1G>C (n.2325+1G>C)
c.2244+1G>C (n.2244+1G>C)
n.2628+1G>C
 ClinVar dbSNP
Xg.18619967G=CA2417979439CDKL5c.2376+1G= (n.2376+1G=)
c.2325+1G= (n.2325+1G=)
c.2244+1G= (n.2244+1G=)
n.2628+1G=
Xg.18619967G>TCA412364065CDKL5c.2376+1G>T (n.2376+1G>T)
c.2325+1G>T (n.2325+1G>T)
c.2244+1G>T (n.2244+1G>T)
n.2628+1G>T
Xg.18619968T>ACA412364078CDKL5c.2376+2T>A (n.2376+2T>A)
c.2325+2T>A (n.2325+2T>A)
c.2244+2T>A (n.2244+2T>A)
n.2628+2T>A
 ClinVar gnomAD v4
Xg.18619968T>CCA412364084CDKL5c.2376+2T>C (n.2376+2T>C)
c.2325+2T>C (n.2325+2T>C)
c.2244+2T>C (n.2244+2T>C)
n.2628+2T>C
 gnomAD v4
Xg.18619968T>GCA412364087CDKL5c.2376+2T>G (n.2376+2T>G)
c.2325+2T>G (n.2325+2T>G)
c.2244+2T>G (n.2244+2T>G)
n.2628+2T>G
Xg.18619968T=CA2417979440CDKL5c.2376+2T= (n.2376+2T=)
c.2325+2T= (n.2325+2T=)
c.2244+2T= (n.2244+2T=)
n.2628+2T=
Xg.18619969A>GCA2693223301CDKL5c.2376+3A>G (n.2376+3A>G)
c.2325+3A>G (n.2325+3A>G)
c.2244+3A>G (n.2244+3A>G)
n.2628+3A>G
 gnomAD v4
Xg.18619970dupCA327007701CDKL5c.2376+4dup (n.2376+4dup)
c.2325+4dup (n.2325+4dup)
c.2244+4dup (n.2244+4dup)
n.2628+4dup
 ClinVar dbSNP
Xg.18619970A>GCA2693223302CDKL5c.2376+4A>G (n.2376+4A>G)
c.2325+4A>G (n.2325+4A>G)
c.2244+4A>G (n.2244+4A>G)
n.2628+4A>G
 gnomAD v4
Xg.18619971G>ACA199367CDKL5c.2376+5G>A (n.2376+5G>A)
c.2325+5G>A (n.2325+5G>A)
c.2244+5G>A (n.2244+5G>A)
n.2628+5G>A
 ClinVar dbSNP
Xg.18619971G=CA2417979441CDKL5c.2376+5G= (n.2376+5G=)
c.2325+5G= (n.2325+5G=)
c.2244+5G= (n.2244+5G=)
n.2628+5G=
Xg.18619972T>ACA2579563033CDKL5c.2376+6T>A (n.2376+6T>A)
c.2325+6T>A (n.2325+6T>A)
c.2244+6T>A (n.2244+6T>A)
n.2628+6T>A
 gnomAD v4
Xg.18619973A=CA2417979442CDKL5c.2376+7A= (n.2376+7A=)
c.2325+7A= (n.2325+7A=)
c.2244+7A= (n.2244+7A=)
n.2628+7A=
Xg.18619973A>GCA2417979443CDKL5c.2376+7A>G (n.2376+7A>G)
c.2325+7A>G (n.2325+7A>G)
c.2244+7A>G (n.2244+7A>G)
n.2628+7A>G
 dbSNP gnomAD v4
Xg.18619975A=CA2417979444CDKL5c.2376+9A= (n.2376+9A=)
c.2325+9A= (n.2325+9A=)
c.2244+9A= (n.2244+9A=)
n.2628+9A=
Xg.18619975A>GCA10360528CDKL5c.2376+9A>G (n.2376+9A>G)
c.2325+9A>G (n.2325+9A>G)
c.2244+9A>G (n.2244+9A>G)
n.2628+9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619975A>TCA2693223303CDKL5c.2376+9A>T (n.2376+9A>T)
c.2325+9A>T (n.2325+9A>T)
c.2244+9A>T (n.2244+9A>T)
n.2628+9A>T
 gnomAD v4
Xg.18619976T>ACA2693223304CDKL5c.2376+10T>A (n.2376+10T>A)
c.2325+10T>A (n.2325+10T>A)
c.2244+10T>A (n.2244+10T>A)
n.2628+10T>A
 gnomAD v4
Xg.18619976T>CCA2693223305CDKL5c.2376+10T>C (n.2376+10T>C)
c.2325+10T>C (n.2325+10T>C)
c.2244+10T>C (n.2244+10T>C)
n.2628+10T>C
 gnomAD v4
Xg.18619977G>ACA640510434CDKL5c.2376+11G>A (n.2376+11G>A)
c.2325+11G>A (n.2325+11G>A)
c.2244+11G>A (n.2244+11G>A)
n.2628+11G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18619977G=CA2417979445CDKL5c.2376+11G= (n.2376+11G=)
c.2325+11G= (n.2325+11G=)
c.2244+11G= (n.2244+11G=)
n.2628+11G=
Xg.18619977G>TCA2417979446CDKL5c.2376+11G>T (n.2376+11G>T)
c.2325+11G>T (n.2325+11G>T)
c.2244+11G>T (n.2244+11G>T)
n.2628+11G>T
 ClinVar dbSNP gnomAD v4
Xg.18619978A>CCA2693223306CDKL5c.2376+12A>C (n.2376+12A>C)
c.2325+12A>C (n.2325+12A>C)
c.2244+12A>C (n.2244+12A>C)
n.2628+12A>C
 gnomAD v4
Xg.18619978A>GCA2693223307CDKL5c.2376+12A>G (n.2376+12A>G)
c.2325+12A>G (n.2325+12A>G)
c.2244+12A>G (n.2244+12A>G)
n.2628+12A>G
 gnomAD v4
Xg.18619979C>ACA2693223308CDKL5c.2376+13C>A (n.2376+13C>A)
c.2325+13C>A (n.2325+13C>A)
c.2244+13C>A (n.2244+13C>A)
n.2628+13C>A
 gnomAD v4
Xg.18619979C>TCA2693223309CDKL5c.2376+13C>T (n.2376+13C>T)
c.2325+13C>T (n.2325+13C>T)
c.2244+13C>T (n.2244+13C>T)
n.2628+13C>T
 gnomAD v4

Number of alleles fetched