| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18628334del | CA2693224078 | CDKL5 | c.2497-37del (n.2497-37del) c.2620-37del (n.2620-37del) c.2569-37del (n.2569-37del) c.2488-37del (n.2488-37del) n.2872-37del | gnomAD v4 |
| X | g.18628334A= | CA2417982140 | CDKL5 | c.2497-37A= (n.2497-37A=) c.2620-37A= (n.2620-37A=) c.2569-37A= (n.2569-37A=) c.2488-37A= (n.2488-37A=) n.2872-37A= | |
| X | g.18628334A>C | CA640856760 | CDKL5 | c.2497-37A>C (n.2497-37A>C) c.2620-37A>C (n.2620-37A>C) c.2569-37A>C (n.2569-37A>C) c.2488-37A>C (n.2488-37A>C) n.2872-37A>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18628335C>A | CA2693224080 | CDKL5 | c.2497-36C>A (n.2497-36C>A) c.2620-36C>A (n.2620-36C>A) c.2569-36C>A (n.2569-36C>A) c.2488-36C>A (n.2488-36C>A) n.2872-36C>A | gnomAD v4 |
| X | g.18628335C= | CA2417982141 | CDKL5 | c.2497-36C= (n.2497-36C=) c.2620-36C= (n.2620-36C=) c.2569-36C= (n.2569-36C=) c.2488-36C= (n.2488-36C=) n.2872-36C= | |
| X | g.18628335C>G | CA2417982142 | CDKL5 | c.2497-36C>G (n.2497-36C>G) c.2620-36C>G (n.2620-36C>G) c.2569-36C>G (n.2569-36C>G) c.2488-36C>G (n.2488-36C>G) n.2872-36C>G | dbSNP |
| X | g.18628335C>T | CA640856761 | CDKL5 | c.2497-36C>T (n.2497-36C>T) c.2620-36C>T (n.2620-36C>T) c.2569-36C>T (n.2569-36C>T) c.2488-36C>T (n.2488-36C>T) n.2872-36C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628337T>G | CA1131402224 | CDKL5 | c.2497-34T>G (n.2497-34T>G) c.2620-34T>G (n.2620-34T>G) c.2569-34T>G (n.2569-34T>G) c.2488-34T>G (n.2488-34T>G) n.2872-34T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18628337T= | CA2417982143 | CDKL5 | c.2497-34T= (n.2497-34T=) c.2620-34T= (n.2620-34T=) c.2569-34T= (n.2569-34T=) c.2488-34T= (n.2488-34T=) n.2872-34T= | |
| X | g.18628338G>A | CA2693224081 | CDKL5 | c.2497-33G>A (n.2497-33G>A) c.2620-33G>A (n.2620-33G>A) c.2569-33G>A (n.2569-33G>A) c.2488-33G>A (n.2488-33G>A) n.2872-33G>A | gnomAD v4 |
| X | g.18628339A>G | CA2693224082 | CDKL5 | c.2497-32A>G (n.2497-32A>G) c.2620-32A>G (n.2620-32A>G) c.2569-32A>G (n.2569-32A>G) c.2488-32A>G (n.2488-32A>G) n.2872-32A>G | gnomAD v4 |
| X | g.18628343C= | CA2417982144 | CDKL5 | c.2497-28C= (n.2497-28C=) c.2620-28C= (n.2620-28C=) c.2569-28C= (n.2569-28C=) c.2488-28C= (n.2488-28C=) n.2872-28C= | |
| X | g.18628343C>T | CA640856762 | CDKL5 | c.2497-28C>T (n.2497-28C>T) c.2620-28C>T (n.2620-28C>T) c.2569-28C>T (n.2569-28C>T) c.2488-28C>T (n.2488-28C>T) n.2872-28C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18628344T>C | CA10360556 | CDKL5 | c.2497-27T>C (n.2497-27T>C) c.2620-27T>C (n.2620-27T>C) c.2569-27T>C (n.2569-27T>C) c.2488-27T>C (n.2488-27T>C) n.2872-27T>C | dbSNP ExAC gnomAD v2 |
| X | g.18628344T= | CA2417982145 | CDKL5 | c.2497-27T= (n.2497-27T=) c.2620-27T= (n.2620-27T=) c.2569-27T= (n.2569-27T=) c.2488-27T= (n.2488-27T=) n.2872-27T= | |
| X | g.18628345G>A | CA2693224083 | CDKL5 | c.2497-26G>A (n.2497-26G>A) c.2620-26G>A (n.2620-26G>A) c.2569-26G>A (n.2569-26G>A) c.2488-26G>A (n.2488-26G>A) n.2872-26G>A | gnomAD v4 |
| X | g.18628347G>A | CA2417982146 | CDKL5 | c.2497-24G>A (n.2497-24G>A) c.2620-24G>A (n.2620-24G>A) c.2569-24G>A (n.2569-24G>A) c.2488-24G>A (n.2488-24G>A) n.2872-24G>A | dbSNP |
| X | g.18628347G= | CA2417982147 | CDKL5 | c.2497-24G= (n.2497-24G=) c.2620-24G= (n.2620-24G=) c.2569-24G= (n.2569-24G=) c.2488-24G= (n.2488-24G=) n.2872-24G= | |
| X | g.18628349G>A | CA2579563123 | CDKL5 | c.2497-22G>A (n.2497-22G>A) c.2620-22G>A (n.2620-22G>A) c.2569-22G>A (n.2569-22G>A) c.2488-22G>A (n.2488-22G>A) n.2872-22G>A | |
| X | g.18628350C= | CA2417982148 | CDKL5 | c.2497-21C= (n.2497-21C=) c.2620-21C= (n.2620-21C=) c.2569-21C= (n.2569-21C=) c.2488-21C= (n.2488-21C=) n.2872-21C= | |
| X | g.18628350C>T | CA2417982149 | CDKL5 | c.2497-21C>T (n.2497-21C>T) c.2620-21C>T (n.2620-21C>T) c.2569-21C>T (n.2569-21C>T) c.2488-21C>T (n.2488-21C>T) n.2872-21C>T | dbSNP gnomAD v4 |
| X | g.18628351A= | CA2417982151 | CDKL5 | c.2497-20A= (n.2497-20A=) c.2620-20A= (n.2620-20A=) c.2569-20A= (n.2569-20A=) c.2488-20A= (n.2488-20A=) n.2872-20A= | |
| X | g.18628351A>G | CA2417982152 | CDKL5 | c.2497-20A>G (n.2497-20A>G) c.2620-20A>G (n.2620-20A>G) c.2569-20A>G (n.2569-20A>G) c.2488-20A>G (n.2488-20A>G) n.2872-20A>G | dbSNP gnomAD v4 |
| X | g.18628351_18628352delinsAT | CA2417982150 | CDKL5 | c.2497-20_2497-19delinsAT (n.2497-20_2497-19delinsAT) c.2620-20_2620-19delinsAT (n.2620-20_2620-19delinsAT) c.2569-20_2569-19delinsAT (n.2569-20_2569-19delinsAT) c.2488-20_2488-19delinsAT (n.2488-20_2488-19delinsAT) n.2872-20_2872-19delinsAT | |
| X | g.18628353del | CA10360557 | CDKL5 | c.2497-18del (n.2497-18del) c.2620-18del (n.2620-18del) c.2569-18del (n.2569-18del) c.2488-18del (n.2488-18del) n.2872-18del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18628354C>A | CA327009017 | CDKL5 | c.2497-17C>A (n.2497-17C>A) c.2620-17C>A (n.2620-17C>A) c.2569-17C>A (n.2569-17C>A) c.2488-17C>A (n.2488-17C>A) n.2872-17C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18628354C= | CA2417982153 | CDKL5 | c.2497-17C= (n.2497-17C=) c.2620-17C= (n.2620-17C=) c.2569-17C= (n.2569-17C=) c.2488-17C= (n.2488-17C=) n.2872-17C= | |
| X | g.18628354C>T | CA10360558 | CDKL5 | c.2497-17C>T (n.2497-17C>T) c.2620-17C>T (n.2620-17C>T) c.2569-17C>T (n.2569-17C>T) c.2488-17C>T (n.2488-17C>T) n.2872-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628356C= | CA2417982154 | CDKL5 | c.2497-15C= (n.2497-15C=) c.2620-15C= (n.2620-15C=) c.2569-15C= (n.2569-15C=) c.2488-15C= (n.2488-15C=) n.2872-15C= | |
| X | g.18628356C>T | CA1131402241 | CDKL5 | c.2497-15C>T (n.2497-15C>T) c.2620-15C>T (n.2620-15C>T) c.2569-15C>T (n.2569-15C>T) c.2488-15C>T (n.2488-15C>T) n.2872-15C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18628358_18628359delinsTC | CA2417982155 | CDKL5 | c.2497-13_2497-12delinsTC (n.2497-13_2497-12delinsTC) c.2620-13_2620-12delinsTC (n.2620-13_2620-12delinsTC) c.2569-13_2569-12delinsTC (n.2569-13_2569-12delinsTC) c.2488-13_2488-12delinsTC (n.2488-13_2488-12delinsTC) n.2872-13_2872-12delinsTC | |
| X | g.18628360del | CA2417982156 | CDKL5 | c.2497-11del (n.2497-11del) c.2620-11del (n.2620-11del) c.2569-11del (n.2569-11del) c.2488-11del (n.2488-11del) n.2872-11del | dbSNP |
| X | g.18628360C= | CA2417982157 | CDKL5 | c.2497-11C= (n.2497-11C=) c.2620-11C= (n.2620-11C=) c.2569-11C= (n.2569-11C=) c.2488-11C= (n.2488-11C=) n.2872-11C= | |
| X | g.18628360C>G | CA2693224084 | CDKL5 | c.2497-11C>G (n.2497-11C>G) c.2620-11C>G (n.2620-11C>G) c.2569-11C>G (n.2569-11C>G) c.2488-11C>G (n.2488-11C>G) n.2872-11C>G | gnomAD v4 |
| X | g.18628360C>T | CA640856763 | CDKL5 | c.2497-11C>T (n.2497-11C>T) c.2620-11C>T (n.2620-11C>T) c.2569-11C>T (n.2569-11C>T) c.2488-11C>T (n.2488-11C>T) n.2872-11C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628365_18628368del | CA2580615393 | CDKL5 | c.2497-6_2497-3del (n.2497-6_2497-3del) c.2620-6_2620-3del (n.2620-6_2620-3del) c.2569-6_2569-3del (n.2569-6_2569-3del) c.2488-6_2488-3del (n.2488-6_2488-3del) n.2872-6_2872-3del | ClinVar dbSNP gnomAD v4 |
| X | g.18628360_18628371del | CA2579563124 | CDKL5 | c.2497-11_2497del c.2620-11_2620del c.2569-11_2569del c.2488-11_2488del n.2872-11_2872del | |
| X | g.18628361T>G | CA16608361 | CDKL5 | c.2497-10T>G (n.2497-10T>G) c.2620-10T>G (n.2620-10T>G) c.2569-10T>G (n.2569-10T>G) c.2488-10T>G (n.2488-10T>G) n.2872-10T>G | ClinVar dbSNP |
| X | g.18628361T= | CA2417982158 | CDKL5 | c.2497-10T= (n.2497-10T=) c.2620-10T= (n.2620-10T=) c.2569-10T= (n.2569-10T=) c.2488-10T= (n.2488-10T=) n.2872-10T= | |
| X | g.18628364C= | CA2417982159 | CDKL5 | c.2497-7C= (n.2497-7C=) c.2620-7C= (n.2620-7C=) c.2569-7C= (n.2569-7C=) c.2488-7C= (n.2488-7C=) n.2872-7C= | |
| X | g.18628364C>T | CA2417982160 | CDKL5 | c.2497-7C>T (n.2497-7C>T) c.2620-7C>T (n.2620-7C>T) c.2569-7C>T (n.2569-7C>T) c.2488-7C>T (n.2488-7C>T) n.2872-7C>T | dbSNP gnomAD v4 |
| X | g.18628368C= | CA2417982161 | CDKL5 | c.2497-3C= (n.2497-3C=) c.2620-3C= (n.2620-3C=) c.2569-3C= (n.2569-3C=) c.2488-3C= (n.2488-3C=) n.2872-3C= | |
| X | g.18628368C>T | CA327009021 | CDKL5 | c.2497-3C>T (n.2497-3C>T) c.2620-3C>T (n.2620-3C>T) c.2569-3C>T (n.2569-3C>T) c.2488-3C>T (n.2488-3C>T) n.2872-3C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18628369A>C | CA412366862 | CDKL5 | c.2497-2A>C (n.2497-2A>C) c.2620-2A>C (n.2620-2A>C) c.2569-2A>C (n.2569-2A>C) c.2488-2A>C (n.2488-2A>C) n.2872-2A>C | |
| X | g.18628369A>G | CA412366864 | CDKL5 | c.2497-2A>G (n.2497-2A>G) c.2620-2A>G (n.2620-2A>G) c.2569-2A>G (n.2569-2A>G) c.2488-2A>G (n.2488-2A>G) n.2872-2A>G | gnomAD v4 |
| X | g.18628369A>T | CA412366867 | CDKL5 | c.2497-2A>T (n.2497-2A>T) c.2620-2A>T (n.2620-2A>T) c.2569-2A>T (n.2569-2A>T) c.2488-2A>T (n.2488-2A>T) n.2872-2A>T | |
| X | g.18628370G>A | CA412366871 | CDKL5 | c.2497-1G>A (n.2497-1G>A) c.2620-1G>A (n.2620-1G>A) c.2569-1G>A (n.2569-1G>A) c.2488-1G>A (n.2488-1G>A) n.2872-1G>A | |
| X | g.18628370G>C | CA412366873 | CDKL5 | c.2497-1G>C (n.2497-1G>C) c.2620-1G>C (n.2620-1G>C) c.2569-1G>C (n.2569-1G>C) c.2488-1G>C (n.2488-1G>C) n.2872-1G>C | |
| X | g.18628370G>T | CA412366875 | CDKL5 | c.2497-1G>T (n.2497-1G>T) c.2620-1G>T (n.2620-1G>T) c.2569-1G>T (n.2569-1G>T) c.2488-1G>T (n.2488-1G>T) n.2872-1G>T | |
| X | g.18628371A>C | CA412366878 | CDKL5 | c.2497A>C (p.Ser833Arg) c.2620A>C (p.Ser874Arg) c.2569A>C (p.Ser857Arg) c.2488A>C (p.Ser830Arg) n.2872A>C | |
| X | g.18628371A>G | CA412366880 | CDKL5 | c.2497A>G (p.Ser833Gly) c.2620A>G (p.Ser874Gly) c.2569A>G (p.Ser857Gly) c.2488A>G (p.Ser830Gly) n.2872A>G | |
| X | g.18628371A>T | CA412366882 | CDKL5 | c.2497A>T (p.Ser833Cys) c.2620A>T (p.Ser874Cys) c.2569A>T (p.Ser857Cys) c.2488A>T (p.Ser830Cys) n.2872A>T | |
| X | g.18628372G>A | CA412366884 | CDKL5 | c.2498G>A (p.Ser833Asn) c.2621G>A (p.Ser874Asn) c.2570G>A (p.Ser857Asn) c.2489G>A (p.Ser830Asn) n.2873G>A | |
| X | g.18628372G>C | CA10360559 | CDKL5 | c.2498G>C (p.Ser833Thr) c.2621G>C (p.Ser874Thr) c.2570G>C (p.Ser857Thr) c.2489G>C (p.Ser830Thr) n.2873G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18628372G= | CA2417982162 | CDKL5 | c.2498G= (p.Ser833=) c.2621G= (p.Ser874=) c.2570G= (p.Ser857=) c.2489G= (p.Ser830=) n.2873G= | |
| X | g.18628372G>T | CA412366888 | CDKL5 | c.2498G>T (p.Ser833Ile) c.2621G>T (p.Ser874Ile) c.2570G>T (p.Ser857Ile) c.2489G>T (p.Ser830Ile) n.2873G>T | |
| X | g.18628373C>A | CA412366891 | CDKL5 | c.2499C>A (p.Ser833Arg) c.2622C>A (p.Ser874Arg) c.2571C>A (p.Ser857Arg) c.2490C>A (p.Ser830Arg) n.2874C>A | |
| X | g.18628373C>G | CA412366893 | CDKL5 | c.2499C>G (p.Ser833Arg) c.2622C>G (p.Ser874Arg) c.2571C>G (p.Ser857Arg) c.2490C>G (p.Ser830Arg) n.2874C>G | |
| X | g.18628373C>T | CA515470540 | CDKL5 | c.2499C>T (p.Ser833=) c.2622C>T (p.Ser874=) c.2571C>T (p.Ser857=) c.2490C>T (p.Ser830=) n.2874C>T | |
| X | g.18628374C>A | CA412366896 | CDKL5 | c.2500C>A (p.Gln834Lys) c.2623C>A (p.Gln875Lys) c.2572C>A (p.Gln858Lys) c.2491C>A (p.Gln831Lys) n.2875C>A | |
| X | g.18628374C= | CA2417982163 | CDKL5 | c.2500C= (p.Gln834=) c.2623C= (p.Gln875=) c.2572C= (p.Gln858=) c.2491C= (p.Gln831=) n.2875C= | |
| X | g.18628374C>G | CA412366898 | CDKL5 | c.2500C>G (p.Gln834Glu) c.2623C>G (p.Gln875Glu) c.2572C>G (p.Gln858Glu) c.2491C>G (p.Gln831Glu) n.2875C>G | |
| X | g.18628374C>T | CA121519 | CDKL5 | c.2500C>T (p.Gln834Ter) c.2623C>T (p.Gln875Ter) c.2572C>T (p.Gln858Ter) c.2491C>T (p.Gln831Ter) n.2875C>T | ClinVar dbSNP |
| X | g.18628375A>C | CA412366903 | CDKL5 | c.2501A>C (p.Gln834Pro) c.2624A>C (p.Gln875Pro) c.2573A>C (p.Gln858Pro) c.2492A>C (p.Gln831Pro) n.2876A>C | |
| X | g.18628375A>G | CA412366905 | CDKL5 | c.2501A>G (p.Gln834Arg) c.2624A>G (p.Gln875Arg) c.2573A>G (p.Gln858Arg) c.2492A>G (p.Gln831Arg) n.2876A>G | |
| X | g.18628375A>T | CA412366908 | CDKL5 | c.2501A>T (p.Gln834Leu) c.2624A>T (p.Gln875Leu) c.2573A>T (p.Gln858Leu) c.2492A>T (p.Gln831Leu) n.2876A>T | |
| X | g.18628376G>A | CA515470542 | CDKL5 | c.2502G>A (p.Gln834=) c.2625G>A (p.Gln875=) c.2574G>A (p.Gln858=) c.2493G>A (p.Gln831=) n.2877G>A | |
| X | g.18628376G>C | CA412366911 | CDKL5 | c.2502G>C (p.Gln834His) c.2625G>C (p.Gln875His) c.2574G>C (p.Gln858His) c.2493G>C (p.Gln831His) n.2877G>C | |
| X | g.18628376G= | CA2417982165 | CDKL5 | c.2502G= (p.Gln834=) c.2625G= (p.Gln875=) c.2574G= (p.Gln858=) c.2493G= (p.Gln831=) n.2877G= | |
| X | g.18628376G>T | CA412366913 | CDKL5 | c.2502G>T (p.Gln834His) c.2625G>T (p.Gln875His) c.2574G>T (p.Gln858His) c.2493G>T (p.Gln831His) n.2877G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628376_18628377delinsGC | CA2417982164 | CDKL5 | c.2502_2503delinsGC (p.Gln834=) c.2625_2626delinsGC (p.Gln875=) c.2574_2575delinsGC (p.Gln858=) c.2493_2494delinsGC (p.Gln831=) n.2877_2878delinsGC | |
| X | g.18628377C>A | CA412366920 | CDKL5 | c.2503C>A (p.Pro835Thr) c.2626C>A (p.Pro876Thr) c.2575C>A (p.Pro859Thr) c.2494C>A (p.Pro832Thr) n.2878C>A | |
| X | g.18628377C>G | CA412366922 | CDKL5 | c.2503C>G (p.Pro835Ala) c.2626C>G (p.Pro876Ala) c.2575C>G (p.Pro859Ala) c.2494C>G (p.Pro832Ala) n.2878C>G | |
| X | g.18628377C>T | CA412366918 | CDKL5 | c.2503C>T (p.Pro835Ser) c.2626C>T (p.Pro876Ser) c.2575C>T (p.Pro859Ser) c.2494C>T (p.Pro832Ser) n.2878C>T | |
| X | g.18628378del | CA170479 | CDKL5 | c.2504del (p.Pro835HisfsTer2) c.2627del (p.Pro876HisfsTer2) c.2576del (p.Pro859HisfsTer2) c.2495del (p.Pro832HisfsTer2) n.2879del | ClinVar dbSNP |
| X | g.18628378C>A | CA412366925 | CDKL5 | c.2504C>A (p.Pro835Gln) c.2627C>A (p.Pro876Gln) c.2576C>A (p.Pro859Gln) c.2495C>A (p.Pro832Gln) n.2879C>A | |
| X | g.18628378C>G | CA412366927 | CDKL5 | c.2504C>G (p.Pro835Arg) c.2627C>G (p.Pro876Arg) c.2576C>G (p.Pro859Arg) c.2495C>G (p.Pro832Arg) n.2879C>G | |
| X | g.18628378C>T | CA412366929 | CDKL5 | c.2504C>T (p.Pro835Leu) c.2627C>T (p.Pro876Leu) c.2576C>T (p.Pro859Leu) c.2495C>T (p.Pro832Leu) n.2879C>T | |
| X | g.18628379A>C | CA515470543 | CDKL5 | c.2505A>C (p.Pro835=) c.2628A>C (p.Pro876=) c.2577A>C (p.Pro859=) c.2496A>C (p.Pro832=) n.2880A>C | |
| X | g.18628379A>G | CA515470544 | CDKL5 | c.2505A>G (p.Pro835=) c.2628A>G (p.Pro876=) c.2577A>G (p.Pro859=) c.2496A>G (p.Pro832=) n.2880A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18628379A>T | CA515470545 | CDKL5 | c.2505A>T (p.Pro835=) c.2628A>T (p.Pro876=) c.2577A>T (p.Pro859=) c.2496A>T (p.Pro832=) n.2880A>T | |
| X | g.18628380T>A | CA412366933 | CDKL5 | c.2506T>A (p.Leu836Ile) c.2629T>A (p.Leu877Ile) c.2578T>A (p.Leu860Ile) c.2497T>A (p.Leu833Ile) n.2881T>A | |
| X | g.18628380T>C | CA515470546 | CDKL5 | c.2506T>C (p.Leu836=) c.2629T>C (p.Leu877=) c.2578T>C (p.Leu860=) c.2497T>C (p.Leu833=) n.2881T>C | |
| X | g.18628380T>G | CA412366935 | CDKL5 | c.2506T>G (p.Leu836Val) c.2629T>G (p.Leu877Val) c.2578T>G (p.Leu860Val) c.2497T>G (p.Leu833Val) n.2881T>G | |
| X | g.18628381T>A | CA412366942 | CDKL5 | c.2507T>A (p.Leu836Ter) c.2630T>A (p.Leu877Ter) c.2579T>A (p.Leu860Ter) c.2498T>A (p.Leu833Ter) n.2882T>A | |
| X | g.18628381T>C | CA412366941 | CDKL5 | c.2507T>C (p.Leu836Ser) c.2630T>C (p.Leu877Ser) c.2579T>C (p.Leu860Ser) c.2498T>C (p.Leu833Ser) n.2882T>C | |
| X | g.18628381T>G | CA412366938 | CDKL5 | c.2507T>G (p.Leu836Ter) c.2630T>G (p.Leu877Ter) c.2579T>G (p.Leu860Ter) c.2498T>G (p.Leu833Ter) n.2882T>G | |
| X | g.18628382A>C | CA412366944 | CDKL5 | c.2508A>C (p.Leu836Phe) c.2631A>C (p.Leu877Phe) c.2580A>C (p.Leu860Phe) c.2499A>C (p.Leu833Phe) n.2883A>C | |
| X | g.18628382A>G | CA515470547 | CDKL5 | c.2508A>G (p.Leu836=) c.2631A>G (p.Leu877=) c.2580A>G (p.Leu860=) c.2499A>G (p.Leu833=) n.2883A>G | gnomAD v4 |
| X | g.18628382A>T | CA412366946 | CDKL5 | c.2508A>T (p.Leu836Phe) c.2631A>T (p.Leu877Phe) c.2580A>T (p.Leu860Phe) c.2499A>T (p.Leu833Phe) n.2883A>T | |
| X | g.18628383A>C | CA412366949 | CDKL5 | c.2509A>C (p.Lys837Gln) c.2632A>C (p.Lys878Gln) c.2581A>C (p.Lys861Gln) c.2500A>C (p.Lys834Gln) n.2884A>C | |
| X | g.18628383A>G | CA412366951 | CDKL5 | c.2509A>G (p.Lys837Glu) c.2632A>G (p.Lys878Glu) c.2581A>G (p.Lys861Glu) c.2500A>G (p.Lys834Glu) n.2884A>G | |
| X | g.18628383A>T | CA412366954 | CDKL5 | c.2509A>T (p.Lys837Ter) c.2632A>T (p.Lys878Ter) c.2581A>T (p.Lys861Ter) c.2500A>T (p.Lys834Ter) n.2884A>T | |
| X | g.18628384A>C | CA412366956 | CDKL5 | c.2510A>C (p.Lys837Thr) c.2633A>C (p.Lys878Thr) c.2582A>C (p.Lys861Thr) c.2501A>C (p.Lys834Thr) n.2885A>C | |
| X | g.18628384A>G | CA412366958 | CDKL5 | c.2510A>G (p.Lys837Arg) c.2633A>G (p.Lys878Arg) c.2582A>G (p.Lys861Arg) c.2501A>G (p.Lys834Arg) n.2885A>G | |
| X | g.18628384A>T | CA412366961 | CDKL5 | c.2510A>T (p.Lys837Ile) c.2633A>T (p.Lys878Ile) c.2582A>T (p.Lys861Ile) c.2501A>T (p.Lys834Ile) n.2885A>T | |
| X | g.18628385A>C | CA412366965 | CDKL5 | c.2511A>C (p.Lys837Asn) c.2634A>C (p.Lys878Asn) c.2583A>C (p.Lys861Asn) c.2502A>C (p.Lys834Asn) n.2886A>C | |
| X | g.18628385A>G | CA515470548 | CDKL5 | c.2511A>G (p.Lys837=) c.2634A>G (p.Lys878=) c.2583A>G (p.Lys861=) c.2502A>G (p.Lys834=) n.2886A>G | |
| X | g.18628385A>T | CA412366964 | CDKL5 | c.2511A>T (p.Lys837Asn) c.2634A>T (p.Lys878Asn) c.2583A>T (p.Lys861Asn) c.2502A>T (p.Lys834Asn) n.2886A>T | |
| X | g.18628386T>A | CA412366969 | CDKL5 | c.2512T>A (p.Ser838Thr) c.2635T>A (p.Ser879Thr) c.2584T>A (p.Ser862Thr) c.2503T>A (p.Ser835Thr) n.2887T>A | |
| X | g.18628386T>C | CA412366972 | CDKL5 | c.2512T>C (p.Ser838Pro) c.2635T>C (p.Ser879Pro) c.2584T>C (p.Ser862Pro) c.2503T>C (p.Ser835Pro) n.2887T>C | |
| X | g.18628386T>G | CA412366971 | CDKL5 | c.2512T>G (p.Ser838Ala) c.2635T>G (p.Ser879Ala) c.2584T>G (p.Ser862Ala) c.2503T>G (p.Ser835Ala) n.2887T>G | gnomAD v4 |
| X | g.18628387C>A | CA412366975 | CDKL5 | c.2513C>A (p.Ser838Ter) c.2636C>A (p.Ser879Ter) c.2585C>A (p.Ser862Ter) c.2504C>A (p.Ser835Ter) n.2888C>A | |
| X | g.18628387C>G | CA412366979 | CDKL5 | c.2513C>G (p.Ser838Ter) c.2636C>G (p.Ser879Ter) c.2585C>G (p.Ser862Ter) c.2504C>G (p.Ser835Ter) n.2888C>G | |
| X | g.18628387C>T | CA412366977 | CDKL5 | c.2513C>T (p.Ser838Leu) c.2636C>T (p.Ser879Leu) c.2585C>T (p.Ser862Leu) c.2504C>T (p.Ser835Leu) n.2888C>T | |
| X | g.18628388A>C | CA515470549 | CDKL5 | c.2514A>C (p.Ser838=) c.2637A>C (p.Ser879=) c.2586A>C (p.Ser862=) c.2505A>C (p.Ser835=) n.2889A>C | |
| X | g.18628388A>G | CA515470550 | CDKL5 | c.2514A>G (p.Ser838=) c.2637A>G (p.Ser879=) c.2586A>G (p.Ser862=) c.2505A>G (p.Ser835=) n.2889A>G | |
| X | g.18628388A>T | CA515470551 | CDKL5 | c.2514A>T (p.Ser838=) c.2637A>T (p.Ser879=) c.2586A>T (p.Ser862=) c.2505A>T (p.Ser835=) n.2889A>T | |
| X | g.18628389C>A | CA412366981 | CDKL5 | c.2515C>A (p.Leu839Met) c.2638C>A (p.Leu880Met) c.2587C>A (p.Leu863Met) c.2506C>A (p.Leu836Met) n.2890C>A | |
| X | g.18628389C>G | CA412366983 | CDKL5 | c.2515C>G (p.Leu839Val) c.2638C>G (p.Leu880Val) c.2587C>G (p.Leu863Val) c.2506C>G (p.Leu836Val) n.2890C>G | |
| X | g.18628389C>T | CA515470552 | CDKL5 | c.2515C>T (p.Leu839=) c.2638C>T (p.Leu880=) c.2587C>T (p.Leu863=) c.2506C>T (p.Leu836=) n.2890C>T | |
| X | g.18628390T>A | CA412366986 | CDKL5 | c.2516T>A (p.Leu839Gln) c.2639T>A (p.Leu880Gln) c.2588T>A (p.Leu863Gln) c.2507T>A (p.Leu836Gln) n.2891T>A | |
| X | g.18628390T>C | CA412366988 | CDKL5 | c.2516T>C (p.Leu839Pro) c.2639T>C (p.Leu880Pro) c.2588T>C (p.Leu863Pro) c.2507T>C (p.Leu836Pro) n.2891T>C | |
| X | g.18628390T>G | CA412366990 | CDKL5 | c.2516T>G (p.Leu839Arg) c.2639T>G (p.Leu880Arg) c.2588T>G (p.Leu863Arg) c.2507T>G (p.Leu836Arg) n.2891T>G | |
| X | g.18628391G>A | CA515470554 | CDKL5 | c.2517G>A (p.Leu839=) c.2640G>A (p.Leu880=) c.2589G>A (p.Leu863=) c.2508G>A (p.Leu836=) n.2892G>A | |
| X | g.18628391G>C | CA515470555 | CDKL5 | c.2517G>C (p.Leu839=) c.2640G>C (p.Leu880=) c.2589G>C (p.Leu863=) c.2508G>C (p.Leu836=) n.2892G>C | |
| X | g.18628391G>T | CA515470553 | CDKL5 | c.2517G>T (p.Leu839=) c.2640G>T (p.Leu880=) c.2589G>T (p.Leu863=) c.2508G>T (p.Leu836=) n.2892G>T | |
| X | g.18628392C>A | CA412366992 | CDKL5 | c.2518C>A (p.Arg840Ser) c.2641C>A (p.Arg881Ser) c.2590C>A (p.Arg864Ser) c.2509C>A (p.Arg837Ser) n.2893C>A | |
| X | g.18628392C>G | CA412366994 | CDKL5 | c.2518C>G (p.Arg840Gly) c.2641C>G (p.Arg881Gly) c.2590C>G (p.Arg864Gly) c.2509C>G (p.Arg837Gly) n.2893C>G | gnomAD v4 |
| X | g.18628392C>T | CA412366997 | CDKL5 | c.2518C>T (p.Arg840Cys) c.2641C>T (p.Arg881Cys) c.2590C>T (p.Arg864Cys) c.2509C>T (p.Arg837Cys) n.2893C>T | ClinVar gnomAD v4 COSMIC |
| X | g.18628393G>A | CA412367000 | CDKL5 | c.2519G>A (p.Arg840His) c.2642G>A (p.Arg881His) c.2591G>A (p.Arg864His) c.2510G>A (p.Arg837His) n.2894G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.18628393G>C | CA412367002 | CDKL5 | c.2519G>C (p.Arg840Pro) c.2642G>C (p.Arg881Pro) c.2591G>C (p.Arg864Pro) c.2510G>C (p.Arg837Pro) n.2894G>C | |
| X | g.18628393G= | CA2417982166 | CDKL5 | c.2519G= (p.Arg840=) c.2642G= (p.Arg881=) c.2591G= (p.Arg864=) c.2510G= (p.Arg837=) n.2894G= | |
| X | g.18628393G>T | CA412367004 | CDKL5 | c.2519G>T (p.Arg840Leu) c.2642G>T (p.Arg881Leu) c.2591G>T (p.Arg864Leu) c.2510G>T (p.Arg837Leu) n.2894G>T | |
| X | g.18628394C>A | CA515470556 | CDKL5 | c.2520C>A (p.Arg840=) c.2643C>A (p.Arg881=) c.2592C>A (p.Arg864=) c.2511C>A (p.Arg837=) n.2895C>A | |
| X | g.18628394C= | CA2417982167 | CDKL5 | c.2520C= (p.Arg840=) c.2643C= (p.Arg881=) c.2592C= (p.Arg864=) c.2511C= (p.Arg837=) n.2895C= | |
| X | g.18628394C>G | CA515470557 | CDKL5 | c.2520C>G (p.Arg840=) c.2643C>G (p.Arg881=) c.2592C>G (p.Arg864=) c.2511C>G (p.Arg837=) n.2895C>G | |
| X | g.18628394C>T | CA16043241 | CDKL5 | c.2520C>T (p.Arg840=) c.2643C>T (p.Arg881=) c.2592C>T (p.Arg864=) c.2511C>T (p.Arg837=) n.2895C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.18628395A>C | CA412367009 | CDKL5 | c.2521A>C (p.Lys841Gln) c.2644A>C (p.Lys882Gln) c.2593A>C (p.Lys865Gln) c.2512A>C (p.Lys838Gln) n.2896A>C | |
| X | g.18628395A>G | CA412367012 | CDKL5 | c.2521A>G (p.Lys841Glu) c.2644A>G (p.Lys882Glu) c.2593A>G (p.Lys865Glu) c.2512A>G (p.Lys838Glu) n.2896A>G | COSMIC |
| X | g.18628395A>T | CA412367010 | CDKL5 | c.2521A>T (p.Lys841Ter) c.2644A>T (p.Lys882Ter) c.2593A>T (p.Lys865Ter) c.2512A>T (p.Lys838Ter) n.2896A>T | |
| X | g.18628396dup | CA10603424 | CDKL5 | c.2522dup (p.Leu842ValfsTer?) c.2645dup (p.Leu883ValfsTer?) c.2594dup (p.Leu866ValfsTer?) c.2513dup (p.Leu839ValfsTer?) n.2897dup | ClinVar dbSNP |
| X | g.18628396A>C | CA412367015 | CDKL5 | c.2522A>C (p.Lys841Thr) c.2645A>C (p.Lys882Thr) c.2594A>C (p.Lys865Thr) c.2513A>C (p.Lys838Thr) n.2897A>C | |
| X | g.18628396A>G | CA412367017 | CDKL5 | c.2522A>G (p.Lys841Arg) c.2645A>G (p.Lys882Arg) c.2594A>G (p.Lys865Arg) c.2513A>G (p.Lys838Arg) n.2897A>G | |
| X | g.18628396A>T | CA412367019 | CDKL5 | c.2522A>T (p.Lys841Met) c.2645A>T (p.Lys882Met) c.2594A>T (p.Lys865Met) c.2513A>T (p.Lys838Met) n.2897A>T | |
| X | g.18628397G>A | CA515470562 | CDKL5 | c.2523G>A (p.Lys841=) c.2646G>A (p.Lys882=) c.2595G>A (p.Lys865=) c.2514G>A (p.Lys838=) n.2898G>A | |
| X | g.18628397G>C | CA412367022 | CDKL5 | c.2523G>C (p.Lys841Asn) c.2646G>C (p.Lys882Asn) c.2595G>C (p.Lys865Asn) c.2514G>C (p.Lys838Asn) n.2898G>C | |
| X | g.18628397G>T | CA412367024 | CDKL5 | c.2523G>T (p.Lys841Asn) c.2646G>T (p.Lys882Asn) c.2595G>T (p.Lys865Asn) c.2514G>T (p.Lys838Asn) n.2898G>T | |
| X | g.18628398T>A | CA412367027 | CDKL5 | c.2524T>A (p.Leu842Met) c.2647T>A (p.Leu883Met) c.2596T>A (p.Leu866Met) c.2515T>A (p.Leu839Met) n.2899T>A | |
| X | g.18628398T>C | CA515470563 | CDKL5 | c.2524T>C (p.Leu842=) c.2647T>C (p.Leu883=) c.2596T>C (p.Leu866=) c.2515T>C (p.Leu839=) n.2899T>C | |
| X | g.18628398T>G | CA412367029 | CDKL5 | c.2524T>G (p.Leu842Val) c.2647T>G (p.Leu883Val) c.2596T>G (p.Leu866Val) c.2515T>G (p.Leu839Val) n.2899T>G | |
| X | g.18628399T>A | CA412367032 | CDKL5 | c.2525T>A (p.Leu842Ter) c.2648T>A (p.Leu883Ter) c.2597T>A (p.Leu866Ter) c.2516T>A (p.Leu839Ter) n.2900T>A | |
| X | g.18628399T>C | CA412367034 | CDKL5 | c.2525T>C (p.Leu842Ser) c.2648T>C (p.Leu883Ser) c.2597T>C (p.Leu866Ser) c.2516T>C (p.Leu839Ser) n.2900T>C | |
| X | g.18628399T>G | CA412367036 | CDKL5 | c.2525T>G (p.Leu842Trp) c.2648T>G (p.Leu883Trp) c.2597T>G (p.Leu866Trp) c.2516T>G (p.Leu839Trp) n.2900T>G | |
| X | g.18628400G>A | CA515470566 | CDKL5 | c.2526G>A (p.Leu842=) c.2649G>A (p.Leu883=) c.2598G>A (p.Leu866=) c.2517G>A (p.Leu839=) n.2901G>A | |
| X | g.18628400G>C | CA412367041 | CDKL5 | c.2526G>C (p.Leu842Phe) c.2649G>C (p.Leu883Phe) c.2598G>C (p.Leu866Phe) c.2517G>C (p.Leu839Phe) n.2901G>C | |
| X | g.18628400G>T | CA412367039 | CDKL5 | c.2526G>T (p.Leu842Phe) c.2649G>T (p.Leu883Phe) c.2598G>T (p.Leu866Phe) c.2517G>T (p.Leu839Phe) n.2901G>T | |
| X | g.18628401T>A | CA412367044 | CDKL5 | c.2527T>A (p.Leu843Ile) c.2650T>A (p.Leu884Ile) c.2599T>A (p.Leu867Ile) c.2518T>A (p.Leu840Ile) n.2902T>A | |
| X | g.18628401T>C | CA515470567 | CDKL5 | c.2527T>C (p.Leu843=) c.2650T>C (p.Leu884=) c.2599T>C (p.Leu867=) c.2518T>C (p.Leu840=) n.2902T>C | dbSNP |
| X | g.18628401T>G | CA412367046 | CDKL5 | c.2527T>G (p.Leu843Val) c.2650T>G (p.Leu884Val) c.2599T>G (p.Leu867Val) c.2518T>G (p.Leu840Val) n.2902T>G | |
| X | g.18628401T= | CA2417982168 | CDKL5 | c.2527T= (p.Leu843=) c.2650T= (p.Leu884=) c.2599T= (p.Leu867=) c.2518T= (p.Leu840=) n.2902T= | |
| X | g.18628402T>A | CA412367048 | CDKL5 | c.2528T>A (p.Leu843Ter) c.2651T>A (p.Leu884Ter) c.2600T>A (p.Leu867Ter) c.2519T>A (p.Leu840Ter) n.2903T>A | |
| X | g.18628402T>C | CA412367050 | CDKL5 | c.2528T>C (p.Leu843Ser) c.2651T>C (p.Leu884Ser) c.2600T>C (p.Leu867Ser) c.2519T>C (p.Leu840Ser) n.2903T>C | |
| X | g.18628402T>G | CA412367053 | CDKL5 | c.2528T>G (p.Leu843Ter) c.2651T>G (p.Leu884Ter) c.2600T>G (p.Leu867Ter) c.2519T>G (p.Leu840Ter) n.2903T>G | |
| X | g.18628402_18628403delinsTA | CA2417982169 | CDKL5 | c.2528_2529delinsTA (p.Leu843=) c.2651_2652delinsTA (p.Leu884=) c.2600_2601delinsTA (p.Leu867=) c.2519_2520delinsTA (p.Leu840=) n.2903_2904delinsTA | |
| X | g.18628403del | CA170480 | CDKL5 | c.2529del (p.Leu843PhefsTer20) c.2652del (p.Leu884PhefsTer20) c.2601del (p.Leu867PhefsTer20) c.2520del (p.Leu840PhefsTer20) n.2904del | ClinVar dbSNP |
| X | g.18628403A= | CA2417982170 | CDKL5 | c.2529A= (p.Leu843=) c.2652A= (p.Leu884=) c.2601A= (p.Leu867=) c.2520A= (p.Leu840=) n.2904A= | |
| X | g.18628403A>C | CA412367056 | CDKL5 | c.2529A>C (p.Leu843Phe) c.2652A>C (p.Leu884Phe) c.2601A>C (p.Leu867Phe) c.2520A>C (p.Leu840Phe) n.2904A>C | |
| X | g.18628403A>G | CA515470568 | CDKL5 | c.2529A>G (p.Leu843=) c.2652A>G (p.Leu884=) c.2601A>G (p.Leu867=) c.2520A>G (p.Leu840=) n.2904A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18628403A>T | CA412367057 | CDKL5 | c.2529A>T (p.Leu843Phe) c.2652A>T (p.Leu884Phe) c.2601A>T (p.Leu867Phe) c.2520A>T (p.Leu840Phe) n.2904A>T | |
| X | g.18628403dup | CA2740092046 | CDKL5 | c.2529dup (p.His844ThrfsTer?) c.2652dup (p.His885ThrfsTer?) c.2601dup (p.His868ThrfsTer?) c.2520dup (p.His841ThrfsTer?) n.2904dup | ClinVar |
| X | g.18628404C>A | CA412367060 | CDKL5 | c.2530C>A (p.His844Asn) c.2653C>A (p.His885Asn) c.2602C>A (p.His868Asn) c.2521C>A (p.His841Asn) n.2905C>A | ClinVar |
| X | g.18628404C= | CA2417982171 | CDKL5 | c.2530C= (p.His844=) c.2653C= (p.His885=) c.2602C= (p.His868=) c.2521C= (p.His841=) n.2905C= | |
| X | g.18628404C>G | CA412367062 | CDKL5 | c.2530C>G (p.His844Asp) c.2653C>G (p.His885Asp) c.2602C>G (p.His868Asp) c.2521C>G (p.His841Asp) n.2905C>G | |
| X | g.18628404C>T | CA412367065 | CDKL5 | c.2530C>T (p.His844Tyr) c.2653C>T (p.His885Tyr) c.2602C>T (p.His868Tyr) c.2521C>T (p.His841Tyr) n.2905C>T | dbSNP |
| X | g.18628405A>C | CA412367067 | CDKL5 | c.2531A>C (p.His844Pro) c.2654A>C (p.His885Pro) c.2603A>C (p.His868Pro) c.2522A>C (p.His841Pro) n.2906A>C | |
| X | g.18628405A>G | CA412367069 | CDKL5 | c.2531A>G (p.His844Arg) c.2654A>G (p.His885Arg) c.2603A>G (p.His868Arg) c.2522A>G (p.His841Arg) n.2906A>G | |
| X | g.18628405A>T | CA412367071 | CDKL5 | c.2531A>T (p.His844Leu) c.2654A>T (p.His885Leu) c.2603A>T (p.His868Leu) c.2522A>T (p.His841Leu) n.2906A>T | |
| X | g.18628405dup | CA235610 | CDKL5 | c.2531dup (p.His844GlnfsTer?) c.2654dup (p.His885GlnfsTer?) c.2603dup (p.His868GlnfsTer?) c.2522dup (p.His841GlnfsTer?) n.2906dup | ClinVar dbSNP |
| X | g.18628406T>A | CA412367074 | CDKL5 | c.2532T>A (p.His844Gln) c.2655T>A (p.His885Gln) c.2604T>A (p.His868Gln) c.2523T>A (p.His841Gln) n.2907T>A | |
| X | g.18628406T>C | CA515470569 | CDKL5 | c.2532T>C (p.His844=) c.2655T>C (p.His885=) c.2604T>C (p.His868=) c.2523T>C (p.His841=) n.2907T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18628406T>G | CA412367076 | CDKL5 | c.2532T>G (p.His844Gln) c.2655T>G (p.His885Gln) c.2604T>G (p.His868Gln) c.2523T>G (p.His841Gln) n.2907T>G | |
| X | g.18628406T= | CA2417982172 | CDKL5 | c.2532T= (p.His844=) c.2655T= (p.His885=) c.2604T= (p.His868=) c.2523T= (p.His841=) n.2907T= | |
| X | g.18628407C>A | CA412367079 | CDKL5 | c.2533C>A (p.Leu845Ile) c.2656C>A (p.Leu886Ile) c.2605C>A (p.Leu869Ile) c.2524C>A (p.Leu842Ile) n.2908C>A | |
| X | g.18628407C>G | CA412367081 | CDKL5 | c.2533C>G (p.Leu845Val) c.2656C>G (p.Leu886Val) c.2605C>G (p.Leu869Val) c.2524C>G (p.Leu842Val) n.2908C>G | |
| X | g.18628407C>T | CA412367084 | CDKL5 | c.2533C>T (p.Leu845Phe) c.2656C>T (p.Leu886Phe) c.2605C>T (p.Leu869Phe) c.2524C>T (p.Leu842Phe) n.2908C>T | |
| X | g.18628408T>A | CA412367087 | CDKL5 | c.2534T>A (p.Leu845His) c.2657T>A (p.Leu886His) c.2606T>A (p.Leu869His) c.2525T>A (p.Leu842His) n.2909T>A | |
| X | g.18628408T>C | CA412367089 | CDKL5 | c.2534T>C (p.Leu845Pro) c.2657T>C (p.Leu886Pro) c.2606T>C (p.Leu869Pro) c.2525T>C (p.Leu842Pro) n.2909T>C | |
| X | g.18628408T>G | CA412367092 | CDKL5 | c.2534T>G (p.Leu845Arg) c.2657T>G (p.Leu886Arg) c.2606T>G (p.Leu869Arg) c.2525T>G (p.Leu842Arg) n.2909T>G | |
| X | g.18628409C>A | CA515470570 | CDKL5 | c.2535C>A (p.Leu845=) c.2658C>A (p.Leu886=) c.2607C>A (p.Leu869=) c.2526C>A (p.Leu842=) n.2910C>A | |
| X | g.18628409C>G | CA515470571 | CDKL5 | c.2535C>G (p.Leu845=) c.2658C>G (p.Leu886=) c.2607C>G (p.Leu869=) c.2526C>G (p.Leu842=) n.2910C>G | gnomAD v4 |
| X | g.18628409C>T | CA515470572 | CDKL5 | c.2535C>T (p.Leu845=) c.2658C>T (p.Leu886=) c.2607C>T (p.Leu869=) c.2526C>T (p.Leu842=) n.2910C>T | |
| X | g.18628410T>A | CA412367095 | CDKL5 | c.2536T>A (p.Ser846Thr) c.2659T>A (p.Ser887Thr) c.2608T>A (p.Ser870Thr) c.2527T>A (p.Ser843Thr) n.2911T>A | |
| X | g.18628410T>C | CA412367097 | CDKL5 | c.2536T>C (p.Ser846Pro) c.2659T>C (p.Ser887Pro) c.2608T>C (p.Ser870Pro) c.2527T>C (p.Ser843Pro) n.2911T>C | |
| X | g.18628410T>G | CA412367100 | CDKL5 | c.2536T>G (p.Ser846Ala) c.2659T>G (p.Ser887Ala) c.2608T>G (p.Ser870Ala) c.2527T>G (p.Ser843Ala) n.2911T>G | |
| X | g.18628411C>A | CA412367102 | CDKL5 | c.2537C>A (p.Ser846Tyr) c.2660C>A (p.Ser887Tyr) c.2609C>A (p.Ser870Tyr) c.2528C>A (p.Ser843Tyr) n.2912C>A | |
| X | g.18628411C>G | CA412367105 | CDKL5 | c.2537C>G (p.Ser846Cys) c.2660C>G (p.Ser887Cys) c.2609C>G (p.Ser870Cys) c.2528C>G (p.Ser843Cys) n.2912C>G | |
| X | g.18628411C>T | CA412367107 | CDKL5 | c.2537C>T (p.Ser846Phe) c.2660C>T (p.Ser887Phe) c.2609C>T (p.Ser870Phe) c.2528C>T (p.Ser843Phe) n.2912C>T | |
| X | g.18628412T>A | CA515470573 | CDKL5 | c.2538T>A (p.Ser846=) c.2661T>A (p.Ser887=) c.2610T>A (p.Ser870=) c.2529T>A (p.Ser843=) n.2913T>A | |
| X | g.18628412T>C | CA515470574 | CDKL5 | c.2538T>C (p.Ser846=) c.2661T>C (p.Ser887=) c.2610T>C (p.Ser870=) c.2529T>C (p.Ser843=) n.2913T>C | gnomAD v4 |
| X | g.18628412T>G | CA515470575 | CDKL5 | c.2538T>G (p.Ser846=) c.2661T>G (p.Ser887=) c.2610T>G (p.Ser870=) c.2529T>G (p.Ser843=) n.2913T>G | |
| X | g.18628413T>A | CA412367113 | CDKL5 | c.2539T>A (p.Ser847Thr) c.2662T>A (p.Ser888Thr) c.2611T>A (p.Ser871Thr) c.2530T>A (p.Ser844Thr) n.2914T>A | |
| X | g.18628413T>C | CA412367111 | CDKL5 | c.2539T>C (p.Ser847Pro) c.2662T>C (p.Ser888Pro) c.2611T>C (p.Ser871Pro) c.2530T>C (p.Ser844Pro) n.2914T>C | |
| X | g.18628413T>G | CA412367110 | CDKL5 | c.2539T>G (p.Ser847Ala) c.2662T>G (p.Ser888Ala) c.2611T>G (p.Ser871Ala) c.2530T>G (p.Ser844Ala) n.2914T>G | |
| X | g.18628414C>A | CA412367118 | CDKL5 | c.2540C>A (p.Ser847Ter) c.2663C>A (p.Ser888Ter) c.2612C>A (p.Ser871Ter) c.2531C>A (p.Ser844Ter) n.2915C>A | |
| X | g.18628414C= | CA2417982173 | CDKL5 | c.2540C= (p.Ser847=) c.2663C= (p.Ser888=) c.2612C= (p.Ser871=) c.2531C= (p.Ser844=) n.2915C= | |
| X | g.18628414C>G | CA412367116 | CDKL5 | c.2540C>G (p.Ser847Trp) c.2663C>G (p.Ser888Trp) c.2612C>G (p.Ser871Trp) c.2531C>G (p.Ser844Trp) n.2915C>G | |
| X | g.18628414C>T | CA10360560 | CDKL5 | c.2540C>T (p.Ser847Leu) c.2663C>T (p.Ser888Leu) c.2612C>T (p.Ser871Leu) c.2531C>T (p.Ser844Leu) n.2915C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| X | g.18628415G>A | CA10360561 | CDKL5 | c.2541G>A (p.Ser847=) c.2664G>A (p.Ser888=) c.2613G>A (p.Ser871=) c.2532G>A (p.Ser844=) n.2916G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.18628415G>C | CA515470576 | CDKL5 | c.2541G>C (p.Ser847=) c.2664G>C (p.Ser888=) c.2613G>C (p.Ser871=) c.2532G>C (p.Ser844=) n.2916G>C | gnomAD v4 |
| X | g.18628415G= | CA2417982174 | CDKL5 | c.2541G= (p.Ser847=) c.2664G= (p.Ser888=) c.2613G= (p.Ser871=) c.2532G= (p.Ser844=) n.2916G= | |
| X | g.18628415G>T | CA515470577 | CDKL5 | c.2541G>T (p.Ser847=) c.2664G>T (p.Ser888=) c.2613G>T (p.Ser871=) c.2532G>T (p.Ser844=) n.2916G>T | |
| X | g.18628416G>A | CA412367124 | CDKL5 | c.2542G>A (p.Ala848Thr) c.2665G>A (p.Ala889Thr) c.2614G>A (p.Ala872Thr) c.2533G>A (p.Ala845Thr) n.2917G>A | |
| X | g.18628416G>C | CA412367126 | CDKL5 | c.2542G>C (p.Ala848Pro) c.2665G>C (p.Ala889Pro) c.2614G>C (p.Ala872Pro) c.2533G>C (p.Ala845Pro) n.2917G>C | |
| X | g.18628416G>T | CA412367128 | CDKL5 | c.2542G>T (p.Ala848Ser) c.2665G>T (p.Ala889Ser) c.2614G>T (p.Ala872Ser) c.2533G>T (p.Ala845Ser) n.2917G>T | gnomAD v4 |
| X | g.18628417C>A | CA412367132 | CDKL5 | c.2543C>A (p.Ala848Asp) c.2666C>A (p.Ala889Asp) c.2615C>A (p.Ala872Asp) c.2534C>A (p.Ala845Asp) n.2918C>A | |
| X | g.18628417C>G | CA412367133 | CDKL5 | c.2543C>G (p.Ala848Gly) c.2666C>G (p.Ala889Gly) c.2615C>G (p.Ala872Gly) c.2534C>G (p.Ala845Gly) n.2918C>G | |
| X | g.18628417C>T | CA412367135 | CDKL5 | c.2543C>T (p.Ala848Val) c.2666C>T (p.Ala889Val) c.2615C>T (p.Ala872Val) c.2534C>T (p.Ala845Val) n.2918C>T | |
| X | g.18628418C>A | CA515470578 | CDKL5 | c.2544C>A (p.Ala848=) c.2667C>A (p.Ala889=) c.2616C>A (p.Ala872=) c.2535C>A (p.Ala845=) n.2919C>A | |
| X | g.18628418C= | CA2417982175 | CDKL5 | c.2544C= (p.Ala848=) c.2667C= (p.Ala889=) c.2616C= (p.Ala872=) c.2535C= (p.Ala845=) n.2919C= | |
| X | g.18628418C>G | CA515470579 | CDKL5 | c.2544C>G (p.Ala848=) c.2667C>G (p.Ala889=) c.2616C>G (p.Ala872=) c.2535C>G (p.Ala845=) n.2919C>G | dbSNP |
| X | g.18628418C>T | CA515470580 | CDKL5 | c.2544C>T (p.Ala848=) c.2667C>T (p.Ala889=) c.2616C>T (p.Ala872=) c.2535C>T (p.Ala845=) n.2919C>T | |
| X | g.18628419T>A | CA412367137 | CDKL5 | c.2545T>A (p.Ser849Thr) c.2668T>A (p.Ser890Thr) c.2617T>A (p.Ser873Thr) c.2536T>A (p.Ser846Thr) n.2920T>A | |
| X | g.18628419T>C | CA412367139 | CDKL5 | c.2545T>C (p.Ser849Pro) c.2668T>C (p.Ser890Pro) c.2617T>C (p.Ser873Pro) c.2536T>C (p.Ser846Pro) n.2920T>C | |
| X | g.18628419T>G | CA412367141 | CDKL5 | c.2545T>G (p.Ser849Ala) c.2668T>G (p.Ser890Ala) c.2617T>G (p.Ser873Ala) c.2536T>G (p.Ser846Ala) n.2920T>G | ClinVar |
| X | g.18628420C>A | CA412367143 | CDKL5 | c.2546C>A (p.Ser849Ter) c.2669C>A (p.Ser890Ter) c.2618C>A (p.Ser873Ter) c.2537C>A (p.Ser846Ter) n.2921C>A | |
| X | g.18628420C= | CA2417982177 | CDKL5 | c.2546C= (p.Ser849=) c.2669C= (p.Ser890=) c.2618C= (p.Ser873=) c.2537C= (p.Ser846=) n.2921C= | |
| X | g.18628420C>G | CA412367145 | CDKL5 | c.2546C>G (p.Ser849Ter) c.2669C>G (p.Ser890Ter) c.2618C>G (p.Ser873Ter) c.2537C>G (p.Ser846Ter) n.2921C>G | |
| X | g.18628420C>T | CA16621285 | CDKL5 | c.2546C>T (p.Ser849Leu) c.2669C>T (p.Ser890Leu) c.2618C>T (p.Ser873Leu) c.2537C>T (p.Ser846Leu) n.2921C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628420_18628421delinsCA | CA2417982176 | CDKL5 | c.2546_2547delinsCA (p.Ser849=) c.2669_2670delinsCA (p.Ser890=) c.2618_2619delinsCA (p.Ser873=) c.2537_2538delinsCA (p.Ser846=) n.2921_2922delinsCA | |
| X | g.18628421A= | CA2417982178 | CDKL5 | c.2547A= (p.Ser849=) c.2670A= (p.Ser890=) c.2619A= (p.Ser873=) c.2538A= (p.Ser846=) n.2922A= | |
| X | g.18628421A>C | CA10360562 | CDKL5 | c.2547A>C (p.Ser849=) c.2670A>C (p.Ser890=) c.2619A>C (p.Ser873=) c.2538A>C (p.Ser846=) n.2922A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18628421A>G | CA515470582 | CDKL5 | c.2547A>G (p.Ser849=) c.2670A>G (p.Ser890=) c.2619A>G (p.Ser873=) c.2538A>G (p.Ser846=) n.2922A>G | |
| X | g.18628421A>T | CA515470583 | CDKL5 | c.2547A>T (p.Ser849=) c.2670A>T (p.Ser890=) c.2619A>T (p.Ser873=) c.2538A>T (p.Ser846=) n.2922A>T | |
| X | g.18628423del | CA294691 | CDKL5 | c.2549del (p.Asn850IlefsTer13) c.2672del (p.Asn891IlefsTer13) c.2621del (p.Asn874IlefsTer13) c.2540del (p.Asn847IlefsTer13) n.2924del | ClinVar dbSNP |
| X | g.18628422A>C | CA412367156 | CDKL5 | c.2548A>C (p.Asn850His) c.2671A>C (p.Asn891His) c.2620A>C (p.Asn874His) c.2539A>C (p.Asn847His) n.2923A>C | |
| X | g.18628422A>G | CA412367152 | CDKL5 | c.2548A>G (p.Asn850Asp) c.2671A>G (p.Asn891Asp) c.2620A>G (p.Asn874Asp) c.2539A>G (p.Asn847Asp) n.2923A>G | ClinVar gnomAD v4 |
| X | g.18628422A>T | CA412367154 | CDKL5 | c.2548A>T (p.Asn850Tyr) c.2671A>T (p.Asn891Tyr) c.2620A>T (p.Asn874Tyr) c.2539A>T (p.Asn847Tyr) n.2923A>T | |
| X | g.18628423A>C | CA412367159 | CDKL5 | c.2549A>C (p.Asn850Thr) c.2672A>C (p.Asn891Thr) c.2621A>C (p.Asn874Thr) c.2540A>C (p.Asn847Thr) n.2924A>C | |
| X | g.18628423A>G | CA412367160 | CDKL5 | c.2549A>G (p.Asn850Ser) c.2672A>G (p.Asn891Ser) c.2621A>G (p.Asn874Ser) c.2540A>G (p.Asn847Ser) n.2924A>G | |
| X | g.18628423A>T | CA412367161 | CDKL5 | c.2549A>T (p.Asn850Ile) c.2672A>T (p.Asn891Ile) c.2621A>T (p.Asn874Ile) c.2540A>T (p.Asn847Ile) n.2924A>T | |
| X | g.18628424T>A | CA412367163 | CDKL5 | c.2550T>A (p.Asn850Lys) c.2673T>A (p.Asn891Lys) c.2622T>A (p.Asn874Lys) c.2541T>A (p.Asn847Lys) n.2925T>A | |
| X | g.18628424T>C | CA515470584 | CDKL5 | c.2550T>C (p.Asn850=) c.2673T>C (p.Asn891=) c.2622T>C (p.Asn874=) c.2541T>C (p.Asn847=) n.2925T>C | |
| X | g.18628424T>G | CA412367165 | CDKL5 | c.2550T>G (p.Asn850Lys) c.2673T>G (p.Asn891Lys) c.2622T>G (p.Asn874Lys) c.2541T>G (p.Asn847Lys) n.2925T>G | |
| X | g.18628425C>A | CA10360563 | CDKL5 | c.2551C>A (p.His851Asn) c.2674C>A (p.His892Asn) c.2623C>A (p.His875Asn) c.2542C>A (p.His848Asn) n.2926C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628425C= | CA2417982179 | CDKL5 | c.2551C= (p.His851=) c.2674C= (p.His892=) c.2623C= (p.His875=) c.2542C= (p.His848=) n.2926C= | |
| X | g.18628425C>G | CA412367169 | CDKL5 | c.2551C>G (p.His851Asp) c.2674C>G (p.His892Asp) c.2623C>G (p.His875Asp) c.2542C>G (p.His848Asp) n.2926C>G | |
| X | g.18628425C>T | CA412367171 | CDKL5 | c.2551C>T (p.His851Tyr) c.2674C>T (p.His892Tyr) c.2623C>T (p.His875Tyr) c.2542C>T (p.His848Tyr) n.2926C>T | |
| X | g.18628426A= | CA2417982180 | CDKL5 | c.2552A= (p.His851=) c.2675A= (p.His892=) c.2624A= (p.His875=) c.2543A= (p.His848=) n.2927A= | |
| X | g.18628426A>C | CA412367177 | CDKL5 | c.2552A>C (p.His851Pro) c.2675A>C (p.His892Pro) c.2624A>C (p.His875Pro) c.2543A>C (p.His848Pro) n.2927A>C | |
| X | g.18628426A>G | CA10360564 | CDKL5 | c.2552A>G (p.His851Arg) c.2675A>G (p.His892Arg) c.2624A>G (p.His875Arg) c.2543A>G (p.His848Arg) n.2927A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18628426A>T | CA412367174 | CDKL5 | c.2552A>T (p.His851Leu) c.2675A>T (p.His892Leu) c.2624A>T (p.His875Leu) c.2543A>T (p.His848Leu) n.2927A>T | |
| X | g.18628427C>A | CA412367181 | CDKL5 | c.2553C>A (p.His851Gln) c.2676C>A (p.His892Gln) c.2625C>A (p.His875Gln) c.2544C>A (p.His848Gln) n.2928C>A | |
| X | g.18628427C>G | CA412367182 | CDKL5 | c.2553C>G (p.His851Gln) c.2676C>G (p.His892Gln) c.2625C>G (p.His875Gln) c.2544C>G (p.His848Gln) n.2928C>G | gnomAD v4 |
| X | g.18628427C>T | CA515470586 | CDKL5 | c.2553C>T (p.His851=) c.2676C>T (p.His892=) c.2625C>T (p.His875=) c.2544C>T (p.His848=) n.2928C>T | |
| X | g.18628428C>A | CA412367183 | CDKL5 | c.2554C>A (p.Pro852Thr) c.2677C>A (p.Pro893Thr) c.2626C>A (p.Pro876Thr) c.2545C>A (p.Pro849Thr) n.2929C>A | |
| X | g.18628428C>G | CA412367185 | CDKL5 | c.2554C>G (p.Pro852Ala) c.2677C>G (p.Pro893Ala) c.2626C>G (p.Pro876Ala) c.2545C>G (p.Pro849Ala) n.2929C>G | |
| X | g.18628428C>T | CA412367188 | CDKL5 | c.2554C>T (p.Pro852Ser) c.2677C>T (p.Pro893Ser) c.2626C>T (p.Pro876Ser) c.2545C>T (p.Pro849Ser) n.2929C>T | |
| X | g.18628429C>A | CA412367190 | CDKL5 | c.2555C>A (p.Pro852Gln) c.2678C>A (p.Pro893Gln) c.2627C>A (p.Pro876Gln) c.2546C>A (p.Pro849Gln) n.2930C>A | |
| X | g.18628429C= | CA2417982181 | CDKL5 | c.2555C= (p.Pro852=) c.2678C= (p.Pro893=) c.2627C= (p.Pro876=) c.2546C= (p.Pro849=) n.2930C= | |
| X | g.18628429C>G | CA294760 | CDKL5 | c.2555C>G (p.Pro852Arg) c.2678C>G (p.Pro893Arg) c.2627C>G (p.Pro876Arg) c.2546C>G (p.Pro849Arg) n.2930C>G | ClinVar dbSNP |
| X | g.18628429C>T | CA294764 | CDKL5 | c.2555C>T (p.Pro852Leu) c.2678C>T (p.Pro893Leu) c.2627C>T (p.Pro876Leu) c.2546C>T (p.Pro849Leu) n.2930C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18628430G>A | CA10360565 | CDKL5 | c.2556G>A (p.Pro852=) c.2679G>A (p.Pro893=) c.2628G>A (p.Pro876=) c.2547G>A (p.Pro849=) n.2931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18628430G>C | CA515470587 | CDKL5 | c.2556G>C (p.Pro852=) c.2679G>C (p.Pro893=) c.2628G>C (p.Pro876=) c.2547G>C (p.Pro849=) n.2931G>C | |
| X | g.18628430G= | CA2417982182 | CDKL5 | c.2556G= (p.Pro852=) c.2679G= (p.Pro893=) c.2628G= (p.Pro876=) c.2547G= (p.Pro849=) n.2931G= | |
| X | g.18628430G>T | CA515470588 | CDKL5 | c.2556G>T (p.Pro852=) c.2679G>T (p.Pro893=) c.2628G>T (p.Pro876=) c.2547G>T (p.Pro849=) n.2931G>T | |
| X | g.18628431G>A | CA412367197 | CDKL5 | c.2557G>A (p.Ala853Thr) c.2680G>A (p.Ala894Thr) c.2629G>A (p.Ala877Thr) c.2548G>A (p.Ala850Thr) n.2932G>A | |
| X | g.18628431G>C | CA412367198 | CDKL5 | c.2557G>C (p.Ala853Pro) c.2680G>C (p.Ala894Pro) c.2629G>C (p.Ala877Pro) c.2548G>C (p.Ala850Pro) n.2932G>C | |
| X | g.18628431G>T | CA412367201 | CDKL5 | c.2557G>T (p.Ala853Ser) c.2680G>T (p.Ala894Ser) c.2629G>T (p.Ala877Ser) c.2548G>T (p.Ala850Ser) n.2932G>T | |
| X | g.18628432C>A | CA412367207 | CDKL5 | c.2558C>A (p.Ala853Asp) c.2681C>A (p.Ala894Asp) c.2630C>A (p.Ala877Asp) c.2549C>A (p.Ala850Asp) n.2933C>A | |
| X | g.18628432C>G | CA412367209 | CDKL5 | c.2558C>G (p.Ala853Gly) c.2681C>G (p.Ala894Gly) c.2630C>G (p.Ala877Gly) c.2549C>G (p.Ala850Gly) n.2933C>G | |
| X | g.18628432C>T | CA412367205 | CDKL5 | c.2558C>T (p.Ala853Val) c.2681C>T (p.Ala894Val) c.2630C>T (p.Ala877Val) c.2549C>T (p.Ala850Val) n.2933C>T | |
| X | g.18628433T>A | CA515470589 | CDKL5 | c.2559T>A (p.Ala853=) c.2682T>A (p.Ala894=) c.2631T>A (p.Ala877=) c.2550T>A (p.Ala850=) n.2934T>A | |
| X | g.18628433T>C | CA515470590 | CDKL5 | c.2559T>C (p.Ala853=) c.2682T>C (p.Ala894=) c.2631T>C (p.Ala877=) c.2550T>C (p.Ala850=) n.2934T>C | |
| X | g.18628433T>G | CA515470591 | CDKL5 | c.2559T>G (p.Ala853=) c.2682T>G (p.Ala894=) c.2631T>G (p.Ala877=) c.2550T>G (p.Ala850=) n.2934T>G | |
| X | g.18628434T>A | CA412367212 | CDKL5 | c.2560T>A (p.Ser854Thr) c.2683T>A (p.Ser895Thr) c.2632T>A (p.Ser878Thr) c.2551T>A (p.Ser851Thr) n.2935T>A | |
| X | g.18628434T>C | CA412367214 | CDKL5 | c.2560T>C (p.Ser854Pro) c.2683T>C (p.Ser895Pro) c.2632T>C (p.Ser878Pro) c.2551T>C (p.Ser851Pro) n.2935T>C | ClinVar |
| X | g.18628434T>G | CA412367216 | CDKL5 | c.2560T>G (p.Ser854Ala) c.2683T>G (p.Ser895Ala) c.2632T>G (p.Ser878Ala) c.2551T>G (p.Ser851Ala) n.2935T>G |