Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18628365_18628368delCA2580615393CDKL5c.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
Xg.18628360_18628371delCA2579563124CDKL5c.2497-11_2497del
c.2620-11_2620del
c.2569-11_2569del
c.2488-11_2488del
n.2872-11_2872del
Xg.18628364C=CA2417982159CDKL5c.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=
Xg.18628364C>TCA2417982160CDKL5c.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
Xg.18628368C=CA2417982161CDKL5c.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=
Xg.18628368C>TCA327009021CDKL5c.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
Xg.18628369A>CCA412366862CDKL5c.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
Xg.18628369A>GCA412366864CDKL5c.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
Xg.18628369A>TCA412366867CDKL5c.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
Xg.18628370G>ACA412366871CDKL5c.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
Xg.18628370G>CCA412366873CDKL5c.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
Xg.18628370G>TCA412366875CDKL5c.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
Xg.18628371A>CCA412366878CDKL5c.2497A>C (p.Ser833Arg)
c.2620A>C (p.Ser874Arg)
c.2569A>C (p.Ser857Arg)
c.2488A>C (p.Ser830Arg)
n.2872A>C
Xg.18628371A>GCA412366880CDKL5c.2497A>G (p.Ser833Gly)
c.2620A>G (p.Ser874Gly)
c.2569A>G (p.Ser857Gly)
c.2488A>G (p.Ser830Gly)
n.2872A>G
Xg.18628371A>TCA412366882CDKL5c.2497A>T (p.Ser833Cys)
c.2620A>T (p.Ser874Cys)
c.2569A>T (p.Ser857Cys)
c.2488A>T (p.Ser830Cys)
n.2872A>T
Xg.18628372G>ACA412366884CDKL5c.2498G>A (p.Ser833Asn)
c.2621G>A (p.Ser874Asn)
c.2570G>A (p.Ser857Asn)
c.2489G>A (p.Ser830Asn)
n.2873G>A
Xg.18628372G>CCA10360559CDKL5c.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
Xg.18628372G=CA2417982162CDKL5c.2498G= (p.Ser833=)
c.2621G= (p.Ser874=)
c.2570G= (p.Ser857=)
c.2489G= (p.Ser830=)
n.2873G=
Xg.18628372G>TCA412366888CDKL5c.2498G>T (p.Ser833Ile)
c.2621G>T (p.Ser874Ile)
c.2570G>T (p.Ser857Ile)
c.2489G>T (p.Ser830Ile)
n.2873G>T
Xg.18628373C>ACA412366891CDKL5c.2499C>A (p.Ser833Arg)
c.2622C>A (p.Ser874Arg)
c.2571C>A (p.Ser857Arg)
c.2490C>A (p.Ser830Arg)
n.2874C>A
Xg.18628373C>GCA412366893CDKL5c.2499C>G (p.Ser833Arg)
c.2622C>G (p.Ser874Arg)
c.2571C>G (p.Ser857Arg)
c.2490C>G (p.Ser830Arg)
n.2874C>G
Xg.18628373C>TCA515470540CDKL5c.2499C>T (p.Ser833=)
c.2622C>T (p.Ser874=)
c.2571C>T (p.Ser857=)
c.2490C>T (p.Ser830=)
n.2874C>T
Xg.18628374C>ACA412366896CDKL5c.2500C>A (p.Gln834Lys)
c.2623C>A (p.Gln875Lys)
c.2572C>A (p.Gln858Lys)
c.2491C>A (p.Gln831Lys)
n.2875C>A
Xg.18628374C=CA2417982163CDKL5c.2500C= (p.Gln834=)
c.2623C= (p.Gln875=)
c.2572C= (p.Gln858=)
c.2491C= (p.Gln831=)
n.2875C=
Xg.18628374C>GCA412366898CDKL5c.2500C>G (p.Gln834Glu)
c.2623C>G (p.Gln875Glu)
c.2572C>G (p.Gln858Glu)
c.2491C>G (p.Gln831Glu)
n.2875C>G
Xg.18628374C>TCA121519CDKL5c.2500C>T (p.Gln834Ter)
c.2623C>T (p.Gln875Ter)
c.2572C>T (p.Gln858Ter)
c.2491C>T (p.Gln831Ter)
n.2875C>T
 ClinVar dbSNP
Xg.18628375A>CCA412366903CDKL5c.2501A>C (p.Gln834Pro)
c.2624A>C (p.Gln875Pro)
c.2573A>C (p.Gln858Pro)
c.2492A>C (p.Gln831Pro)
n.2876A>C
Xg.18628375A>GCA412366905CDKL5c.2501A>G (p.Gln834Arg)
c.2624A>G (p.Gln875Arg)
c.2573A>G (p.Gln858Arg)
c.2492A>G (p.Gln831Arg)
n.2876A>G
Xg.18628375A>TCA412366908CDKL5c.2501A>T (p.Gln834Leu)
c.2624A>T (p.Gln875Leu)
c.2573A>T (p.Gln858Leu)
c.2492A>T (p.Gln831Leu)
n.2876A>T
Xg.18628376G>ACA515470542CDKL5c.2502G>A (p.Gln834=)
c.2625G>A (p.Gln875=)
c.2574G>A (p.Gln858=)
c.2493G>A (p.Gln831=)
n.2877G>A
Xg.18628376G>CCA412366911CDKL5c.2502G>C (p.Gln834His)
c.2625G>C (p.Gln875His)
c.2574G>C (p.Gln858His)
c.2493G>C (p.Gln831His)
n.2877G>C
Xg.18628376G=CA2417982165CDKL5c.2502G= (p.Gln834=)
c.2625G= (p.Gln875=)
c.2574G= (p.Gln858=)
c.2493G= (p.Gln831=)
n.2877G=
Xg.18628376G>TCA412366913CDKL5c.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
Xg.18628376_18628377delinsGCCA2417982164CDKL5c.2502_2503delinsGC (p.Gln834=)
c.2625_2626delinsGC (p.Gln875=)
c.2574_2575delinsGC (p.Gln858=)
c.2493_2494delinsGC (p.Gln831=)
n.2877_2878delinsGC
Xg.18628377C>ACA412366920CDKL5c.2503C>A (p.Pro835Thr)
c.2626C>A (p.Pro876Thr)
c.2575C>A (p.Pro859Thr)
c.2494C>A (p.Pro832Thr)
n.2878C>A
Xg.18628377C>GCA412366922CDKL5c.2503C>G (p.Pro835Ala)
c.2626C>G (p.Pro876Ala)
c.2575C>G (p.Pro859Ala)
c.2494C>G (p.Pro832Ala)
n.2878C>G
Xg.18628377C>TCA412366918CDKL5c.2503C>T (p.Pro835Ser)
c.2626C>T (p.Pro876Ser)
c.2575C>T (p.Pro859Ser)
c.2494C>T (p.Pro832Ser)
n.2878C>T
Xg.18628378delCA170479CDKL5c.2504del (p.Pro835HisfsTer2)
c.2627del (p.Pro876HisfsTer2)
c.2576del (p.Pro859HisfsTer2)
c.2495del (p.Pro832HisfsTer2)
n.2879del
 ClinVar dbSNP
Xg.18628378C>ACA412366925CDKL5c.2504C>A (p.Pro835Gln)
c.2627C>A (p.Pro876Gln)
c.2576C>A (p.Pro859Gln)
c.2495C>A (p.Pro832Gln)
n.2879C>A
Xg.18628378C>GCA412366927CDKL5c.2504C>G (p.Pro835Arg)
c.2627C>G (p.Pro876Arg)
c.2576C>G (p.Pro859Arg)
c.2495C>G (p.Pro832Arg)
n.2879C>G
Xg.18628378C>TCA412366929CDKL5c.2504C>T (p.Pro835Leu)
c.2627C>T (p.Pro876Leu)
c.2576C>T (p.Pro859Leu)
c.2495C>T (p.Pro832Leu)
n.2879C>T
Xg.18628379A>CCA515470543CDKL5c.2505A>C (p.Pro835=)
c.2628A>C (p.Pro876=)
c.2577A>C (p.Pro859=)
c.2496A>C (p.Pro832=)
n.2880A>C
Xg.18628379A>GCA515470544CDKL5c.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
Xg.18628379A>TCA515470545CDKL5c.2505A>T (p.Pro835=)
c.2628A>T (p.Pro876=)
c.2577A>T (p.Pro859=)
c.2496A>T (p.Pro832=)
n.2880A>T
Xg.18628380T>ACA412366933CDKL5c.2506T>A (p.Leu836Ile)
c.2629T>A (p.Leu877Ile)
c.2578T>A (p.Leu860Ile)
c.2497T>A (p.Leu833Ile)
n.2881T>A
Xg.18628380T>CCA515470546CDKL5c.2506T>C (p.Leu836=)
c.2629T>C (p.Leu877=)
c.2578T>C (p.Leu860=)
c.2497T>C (p.Leu833=)
n.2881T>C
Xg.18628380T>GCA412366935CDKL5c.2506T>G (p.Leu836Val)
c.2629T>G (p.Leu877Val)
c.2578T>G (p.Leu860Val)
c.2497T>G (p.Leu833Val)
n.2881T>G
Xg.18628381T>ACA412366942CDKL5c.2507T>A (p.Leu836Ter)
c.2630T>A (p.Leu877Ter)
c.2579T>A (p.Leu860Ter)
c.2498T>A (p.Leu833Ter)
n.2882T>A
Xg.18628381T>CCA412366941CDKL5c.2507T>C (p.Leu836Ser)
c.2630T>C (p.Leu877Ser)
c.2579T>C (p.Leu860Ser)
c.2498T>C (p.Leu833Ser)
n.2882T>C
Xg.18628381T>GCA412366938CDKL5c.2507T>G (p.Leu836Ter)
c.2630T>G (p.Leu877Ter)
c.2579T>G (p.Leu860Ter)
c.2498T>G (p.Leu833Ter)
n.2882T>G
Xg.18628382A>CCA412366944CDKL5c.2508A>C (p.Leu836Phe)
c.2631A>C (p.Leu877Phe)
c.2580A>C (p.Leu860Phe)
c.2499A>C (p.Leu833Phe)
n.2883A>C
Xg.18628382A>GCA515470547CDKL5c.2508A>G (p.Leu836=)
c.2631A>G (p.Leu877=)
c.2580A>G (p.Leu860=)
c.2499A>G (p.Leu833=)
n.2883A>G
 gnomAD v4
Xg.18628382A>TCA412366946CDKL5c.2508A>T (p.Leu836Phe)
c.2631A>T (p.Leu877Phe)
c.2580A>T (p.Leu860Phe)
c.2499A>T (p.Leu833Phe)
n.2883A>T
Xg.18628383A>CCA412366949CDKL5c.2509A>C (p.Lys837Gln)
c.2632A>C (p.Lys878Gln)
c.2581A>C (p.Lys861Gln)
c.2500A>C (p.Lys834Gln)
n.2884A>C
Xg.18628383A>GCA412366951CDKL5c.2509A>G (p.Lys837Glu)
c.2632A>G (p.Lys878Glu)
c.2581A>G (p.Lys861Glu)
c.2500A>G (p.Lys834Glu)
n.2884A>G
Xg.18628383A>TCA412366954CDKL5c.2509A>T (p.Lys837Ter)
c.2632A>T (p.Lys878Ter)
c.2581A>T (p.Lys861Ter)
c.2500A>T (p.Lys834Ter)
n.2884A>T
Xg.18628384A>CCA412366956CDKL5c.2510A>C (p.Lys837Thr)
c.2633A>C (p.Lys878Thr)
c.2582A>C (p.Lys861Thr)
c.2501A>C (p.Lys834Thr)
n.2885A>C
Xg.18628384A>GCA412366958CDKL5c.2510A>G (p.Lys837Arg)
c.2633A>G (p.Lys878Arg)
c.2582A>G (p.Lys861Arg)
c.2501A>G (p.Lys834Arg)
n.2885A>G
Xg.18628384A>TCA412366961CDKL5c.2510A>T (p.Lys837Ile)
c.2633A>T (p.Lys878Ile)
c.2582A>T (p.Lys861Ile)
c.2501A>T (p.Lys834Ile)
n.2885A>T
Xg.18628385A>CCA412366965CDKL5c.2511A>C (p.Lys837Asn)
c.2634A>C (p.Lys878Asn)
c.2583A>C (p.Lys861Asn)
c.2502A>C (p.Lys834Asn)
n.2886A>C
Xg.18628385A>GCA515470548CDKL5c.2511A>G (p.Lys837=)
c.2634A>G (p.Lys878=)
c.2583A>G (p.Lys861=)
c.2502A>G (p.Lys834=)
n.2886A>G
Xg.18628385A>TCA412366964CDKL5c.2511A>T (p.Lys837Asn)
c.2634A>T (p.Lys878Asn)
c.2583A>T (p.Lys861Asn)
c.2502A>T (p.Lys834Asn)
n.2886A>T
Xg.18628386T>ACA412366969CDKL5c.2512T>A (p.Ser838Thr)
c.2635T>A (p.Ser879Thr)
c.2584T>A (p.Ser862Thr)
c.2503T>A (p.Ser835Thr)
n.2887T>A
Xg.18628386T>CCA412366972CDKL5c.2512T>C (p.Ser838Pro)
c.2635T>C (p.Ser879Pro)
c.2584T>C (p.Ser862Pro)
c.2503T>C (p.Ser835Pro)
n.2887T>C
Xg.18628386T>GCA412366971CDKL5c.2512T>G (p.Ser838Ala)
c.2635T>G (p.Ser879Ala)
c.2584T>G (p.Ser862Ala)
c.2503T>G (p.Ser835Ala)
n.2887T>G
 gnomAD v4
Xg.18628387C>ACA412366975CDKL5c.2513C>A (p.Ser838Ter)
c.2636C>A (p.Ser879Ter)
c.2585C>A (p.Ser862Ter)
c.2504C>A (p.Ser835Ter)
n.2888C>A
Xg.18628387C>GCA412366979CDKL5c.2513C>G (p.Ser838Ter)
c.2636C>G (p.Ser879Ter)
c.2585C>G (p.Ser862Ter)
c.2504C>G (p.Ser835Ter)
n.2888C>G
Xg.18628387C>TCA412366977CDKL5c.2513C>T (p.Ser838Leu)
c.2636C>T (p.Ser879Leu)
c.2585C>T (p.Ser862Leu)
c.2504C>T (p.Ser835Leu)
n.2888C>T
Xg.18628388A>CCA515470549CDKL5c.2514A>C (p.Ser838=)
c.2637A>C (p.Ser879=)
c.2586A>C (p.Ser862=)
c.2505A>C (p.Ser835=)
n.2889A>C
Xg.18628388A>GCA515470550CDKL5c.2514A>G (p.Ser838=)
c.2637A>G (p.Ser879=)
c.2586A>G (p.Ser862=)
c.2505A>G (p.Ser835=)
n.2889A>G
Xg.18628388A>TCA515470551CDKL5c.2514A>T (p.Ser838=)
c.2637A>T (p.Ser879=)
c.2586A>T (p.Ser862=)
c.2505A>T (p.Ser835=)
n.2889A>T
Xg.18628389C>ACA412366981CDKL5c.2515C>A (p.Leu839Met)
c.2638C>A (p.Leu880Met)
c.2587C>A (p.Leu863Met)
c.2506C>A (p.Leu836Met)
n.2890C>A
Xg.18628389C>GCA412366983CDKL5c.2515C>G (p.Leu839Val)
c.2638C>G (p.Leu880Val)
c.2587C>G (p.Leu863Val)
c.2506C>G (p.Leu836Val)
n.2890C>G
Xg.18628389C>TCA515470552CDKL5c.2515C>T (p.Leu839=)
c.2638C>T (p.Leu880=)
c.2587C>T (p.Leu863=)
c.2506C>T (p.Leu836=)
n.2890C>T
Xg.18628390T>ACA412366986CDKL5c.2516T>A (p.Leu839Gln)
c.2639T>A (p.Leu880Gln)
c.2588T>A (p.Leu863Gln)
c.2507T>A (p.Leu836Gln)
n.2891T>A
Xg.18628390T>CCA412366988CDKL5c.2516T>C (p.Leu839Pro)
c.2639T>C (p.Leu880Pro)
c.2588T>C (p.Leu863Pro)
c.2507T>C (p.Leu836Pro)
n.2891T>C
Xg.18628390T>GCA412366990CDKL5c.2516T>G (p.Leu839Arg)
c.2639T>G (p.Leu880Arg)
c.2588T>G (p.Leu863Arg)
c.2507T>G (p.Leu836Arg)
n.2891T>G
Xg.18628391G>ACA515470554CDKL5c.2517G>A (p.Leu839=)
c.2640G>A (p.Leu880=)
c.2589G>A (p.Leu863=)
c.2508G>A (p.Leu836=)
n.2892G>A
Xg.18628391G>CCA515470555CDKL5c.2517G>C (p.Leu839=)
c.2640G>C (p.Leu880=)
c.2589G>C (p.Leu863=)
c.2508G>C (p.Leu836=)
n.2892G>C
Xg.18628391G>TCA515470553CDKL5c.2517G>T (p.Leu839=)
c.2640G>T (p.Leu880=)
c.2589G>T (p.Leu863=)
c.2508G>T (p.Leu836=)
n.2892G>T
Xg.18628392C>ACA412366992CDKL5c.2518C>A (p.Arg840Ser)
c.2641C>A (p.Arg881Ser)
c.2590C>A (p.Arg864Ser)
c.2509C>A (p.Arg837Ser)
n.2893C>A
Xg.18628392C>GCA412366994CDKL5c.2518C>G (p.Arg840Gly)
c.2641C>G (p.Arg881Gly)
c.2590C>G (p.Arg864Gly)
c.2509C>G (p.Arg837Gly)
n.2893C>G
 gnomAD v4
Xg.18628392C>TCA412366997CDKL5c.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
Xg.18628393G>ACA412367000CDKL5c.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
Xg.18628393G>CCA412367002CDKL5c.2519G>C (p.Arg840Pro)
c.2642G>C (p.Arg881Pro)
c.2591G>C (p.Arg864Pro)
c.2510G>C (p.Arg837Pro)
n.2894G>C
Xg.18628393G=CA2417982166CDKL5c.2519G= (p.Arg840=)
c.2642G= (p.Arg881=)
c.2591G= (p.Arg864=)
c.2510G= (p.Arg837=)
n.2894G=
Xg.18628393G>TCA412367004CDKL5c.2519G>T (p.Arg840Leu)
c.2642G>T (p.Arg881Leu)
c.2591G>T (p.Arg864Leu)
c.2510G>T (p.Arg837Leu)
n.2894G>T
Xg.18628394C>ACA515470556CDKL5c.2520C>A (p.Arg840=)
c.2643C>A (p.Arg881=)
c.2592C>A (p.Arg864=)
c.2511C>A (p.Arg837=)
n.2895C>A
Xg.18628394C=CA2417982167CDKL5c.2520C= (p.Arg840=)
c.2643C= (p.Arg881=)
c.2592C= (p.Arg864=)
c.2511C= (p.Arg837=)
n.2895C=
Xg.18628394C>GCA515470557CDKL5c.2520C>G (p.Arg840=)
c.2643C>G (p.Arg881=)
c.2592C>G (p.Arg864=)
c.2511C>G (p.Arg837=)
n.2895C>G
Xg.18628394C>TCA16043241CDKL5c.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
Xg.18628395A>CCA412367009CDKL5c.2521A>C (p.Lys841Gln)
c.2644A>C (p.Lys882Gln)
c.2593A>C (p.Lys865Gln)
c.2512A>C (p.Lys838Gln)
n.2896A>C
Xg.18628395A>GCA412367012CDKL5c.2521A>G (p.Lys841Glu)
c.2644A>G (p.Lys882Glu)
c.2593A>G (p.Lys865Glu)
c.2512A>G (p.Lys838Glu)
n.2896A>G
 COSMIC
Xg.18628395A>TCA412367010CDKL5c.2521A>T (p.Lys841Ter)
c.2644A>T (p.Lys882Ter)
c.2593A>T (p.Lys865Ter)
c.2512A>T (p.Lys838Ter)
n.2896A>T
Xg.18628396dupCA10603424CDKL5c.2522dup (p.Leu842ValfsTer?)
c.2645dup (p.Leu883ValfsTer?)
c.2594dup (p.Leu866ValfsTer?)
c.2513dup (p.Leu839ValfsTer?)
n.2897dup
 ClinVar dbSNP
Xg.18628396A>CCA412367015CDKL5c.2522A>C (p.Lys841Thr)
c.2645A>C (p.Lys882Thr)
c.2594A>C (p.Lys865Thr)
c.2513A>C (p.Lys838Thr)
n.2897A>C
Xg.18628396A>GCA412367017CDKL5c.2522A>G (p.Lys841Arg)
c.2645A>G (p.Lys882Arg)
c.2594A>G (p.Lys865Arg)
c.2513A>G (p.Lys838Arg)
n.2897A>G
Xg.18628396A>TCA412367019CDKL5c.2522A>T (p.Lys841Met)
c.2645A>T (p.Lys882Met)
c.2594A>T (p.Lys865Met)
c.2513A>T (p.Lys838Met)
n.2897A>T
Xg.18628397G>ACA515470562CDKL5c.2523G>A (p.Lys841=)
c.2646G>A (p.Lys882=)
c.2595G>A (p.Lys865=)
c.2514G>A (p.Lys838=)
n.2898G>A
Xg.18628397G>CCA412367022CDKL5c.2523G>C (p.Lys841Asn)
c.2646G>C (p.Lys882Asn)
c.2595G>C (p.Lys865Asn)
c.2514G>C (p.Lys838Asn)
n.2898G>C
Xg.18628397G>TCA412367024CDKL5c.2523G>T (p.Lys841Asn)
c.2646G>T (p.Lys882Asn)
c.2595G>T (p.Lys865Asn)
c.2514G>T (p.Lys838Asn)
n.2898G>T
Xg.18628398T>ACA412367027CDKL5c.2524T>A (p.Leu842Met)
c.2647T>A (p.Leu883Met)
c.2596T>A (p.Leu866Met)
c.2515T>A (p.Leu839Met)
n.2899T>A
Xg.18628398T>CCA515470563CDKL5c.2524T>C (p.Leu842=)
c.2647T>C (p.Leu883=)
c.2596T>C (p.Leu866=)
c.2515T>C (p.Leu839=)
n.2899T>C
Xg.18628398T>GCA412367029CDKL5c.2524T>G (p.Leu842Val)
c.2647T>G (p.Leu883Val)
c.2596T>G (p.Leu866Val)
c.2515T>G (p.Leu839Val)
n.2899T>G
Xg.18628399T>ACA412367032CDKL5c.2525T>A (p.Leu842Ter)
c.2648T>A (p.Leu883Ter)
c.2597T>A (p.Leu866Ter)
c.2516T>A (p.Leu839Ter)
n.2900T>A
Xg.18628399T>CCA412367034CDKL5c.2525T>C (p.Leu842Ser)
c.2648T>C (p.Leu883Ser)
c.2597T>C (p.Leu866Ser)
c.2516T>C (p.Leu839Ser)
n.2900T>C
Xg.18628399T>GCA412367036CDKL5c.2525T>G (p.Leu842Trp)
c.2648T>G (p.Leu883Trp)
c.2597T>G (p.Leu866Trp)
c.2516T>G (p.Leu839Trp)
n.2900T>G
Xg.18628400G>ACA515470566CDKL5c.2526G>A (p.Leu842=)
c.2649G>A (p.Leu883=)
c.2598G>A (p.Leu866=)
c.2517G>A (p.Leu839=)
n.2901G>A
Xg.18628400G>CCA412367041CDKL5c.2526G>C (p.Leu842Phe)
c.2649G>C (p.Leu883Phe)
c.2598G>C (p.Leu866Phe)
c.2517G>C (p.Leu839Phe)
n.2901G>C
Xg.18628400G>TCA412367039CDKL5c.2526G>T (p.Leu842Phe)
c.2649G>T (p.Leu883Phe)
c.2598G>T (p.Leu866Phe)
c.2517G>T (p.Leu839Phe)
n.2901G>T
Xg.18628401T>ACA412367044CDKL5c.2527T>A (p.Leu843Ile)
c.2650T>A (p.Leu884Ile)
c.2599T>A (p.Leu867Ile)
c.2518T>A (p.Leu840Ile)
n.2902T>A
Xg.18628401T>CCA515470567CDKL5c.2527T>C (p.Leu843=)
c.2650T>C (p.Leu884=)
c.2599T>C (p.Leu867=)
c.2518T>C (p.Leu840=)
n.2902T>C
 dbSNP
Xg.18628401T>GCA412367046CDKL5c.2527T>G (p.Leu843Val)
c.2650T>G (p.Leu884Val)
c.2599T>G (p.Leu867Val)
c.2518T>G (p.Leu840Val)
n.2902T>G
Xg.18628401T=CA2417982168CDKL5c.2527T= (p.Leu843=)
c.2650T= (p.Leu884=)
c.2599T= (p.Leu867=)
c.2518T= (p.Leu840=)
n.2902T=
Xg.18628402T>ACA412367048CDKL5c.2528T>A (p.Leu843Ter)
c.2651T>A (p.Leu884Ter)
c.2600T>A (p.Leu867Ter)
c.2519T>A (p.Leu840Ter)
n.2903T>A
Xg.18628402T>CCA412367050CDKL5c.2528T>C (p.Leu843Ser)
c.2651T>C (p.Leu884Ser)
c.2600T>C (p.Leu867Ser)
c.2519T>C (p.Leu840Ser)
n.2903T>C
Xg.18628402T>GCA412367053CDKL5c.2528T>G (p.Leu843Ter)
c.2651T>G (p.Leu884Ter)
c.2600T>G (p.Leu867Ter)
c.2519T>G (p.Leu840Ter)
n.2903T>G
Xg.18628402_18628403delinsTACA2417982169CDKL5c.2528_2529delinsTA (p.Leu843=)
c.2651_2652delinsTA (p.Leu884=)
c.2600_2601delinsTA (p.Leu867=)
c.2519_2520delinsTA (p.Leu840=)
n.2903_2904delinsTA
Xg.18628403delCA170480CDKL5c.2529del (p.Leu843PhefsTer20)
c.2652del (p.Leu884PhefsTer20)
c.2601del (p.Leu867PhefsTer20)
c.2520del (p.Leu840PhefsTer20)
n.2904del
 ClinVar dbSNP
Xg.18628403A=CA2417982170CDKL5c.2529A= (p.Leu843=)
c.2652A= (p.Leu884=)
c.2601A= (p.Leu867=)
c.2520A= (p.Leu840=)
n.2904A=
Xg.18628403A>CCA412367056CDKL5c.2529A>C (p.Leu843Phe)
c.2652A>C (p.Leu884Phe)
c.2601A>C (p.Leu867Phe)
c.2520A>C (p.Leu840Phe)
n.2904A>C
Xg.18628403A>GCA515470568CDKL5c.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
Xg.18628403A>TCA412367057CDKL5c.2529A>T (p.Leu843Phe)
c.2652A>T (p.Leu884Phe)
c.2601A>T (p.Leu867Phe)
c.2520A>T (p.Leu840Phe)
n.2904A>T
Xg.18628403dupCA2740092046CDKL5c.2529dup (p.His844ThrfsTer?)
c.2652dup (p.His885ThrfsTer?)
c.2601dup (p.His868ThrfsTer?)
c.2520dup (p.His841ThrfsTer?)
n.2904dup
 ClinVar
Xg.18628404C>ACA412367060CDKL5c.2530C>A (p.His844Asn)
c.2653C>A (p.His885Asn)
c.2602C>A (p.His868Asn)
c.2521C>A (p.His841Asn)
n.2905C>A
 ClinVar
Xg.18628404C=CA2417982171CDKL5c.2530C= (p.His844=)
c.2653C= (p.His885=)
c.2602C= (p.His868=)
c.2521C= (p.His841=)
n.2905C=
Xg.18628404C>GCA412367062CDKL5c.2530C>G (p.His844Asp)
c.2653C>G (p.His885Asp)
c.2602C>G (p.His868Asp)
c.2521C>G (p.His841Asp)
n.2905C>G
Xg.18628404C>TCA412367065CDKL5c.2530C>T (p.His844Tyr)
c.2653C>T (p.His885Tyr)
c.2602C>T (p.His868Tyr)
c.2521C>T (p.His841Tyr)
n.2905C>T
 dbSNP
Xg.18628405A>CCA412367067CDKL5c.2531A>C (p.His844Pro)
c.2654A>C (p.His885Pro)
c.2603A>C (p.His868Pro)
c.2522A>C (p.His841Pro)
n.2906A>C
Xg.18628405A>GCA412367069CDKL5c.2531A>G (p.His844Arg)
c.2654A>G (p.His885Arg)
c.2603A>G (p.His868Arg)
c.2522A>G (p.His841Arg)
n.2906A>G
Xg.18628405A>TCA412367071CDKL5c.2531A>T (p.His844Leu)
c.2654A>T (p.His885Leu)
c.2603A>T (p.His868Leu)
c.2522A>T (p.His841Leu)
n.2906A>T
Xg.18628405dupCA235610CDKL5c.2531dup (p.His844GlnfsTer?)
c.2654dup (p.His885GlnfsTer?)
c.2603dup (p.His868GlnfsTer?)
c.2522dup (p.His841GlnfsTer?)
n.2906dup
 ClinVar dbSNP
Xg.18628406T>ACA412367074CDKL5c.2532T>A (p.His844Gln)
c.2655T>A (p.His885Gln)
c.2604T>A (p.His868Gln)
c.2523T>A (p.His841Gln)
n.2907T>A
Xg.18628406T>CCA515470569CDKL5c.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
Xg.18628406T>GCA412367076CDKL5c.2532T>G (p.His844Gln)
c.2655T>G (p.His885Gln)
c.2604T>G (p.His868Gln)
c.2523T>G (p.His841Gln)
n.2907T>G
Xg.18628406T=CA2417982172CDKL5c.2532T= (p.His844=)
c.2655T= (p.His885=)
c.2604T= (p.His868=)
c.2523T= (p.His841=)
n.2907T=
Xg.18628407C>ACA412367079CDKL5c.2533C>A (p.Leu845Ile)
c.2656C>A (p.Leu886Ile)
c.2605C>A (p.Leu869Ile)
c.2524C>A (p.Leu842Ile)
n.2908C>A
Xg.18628407C>GCA412367081CDKL5c.2533C>G (p.Leu845Val)
c.2656C>G (p.Leu886Val)
c.2605C>G (p.Leu869Val)
c.2524C>G (p.Leu842Val)
n.2908C>G
Xg.18628407C>TCA412367084CDKL5c.2533C>T (p.Leu845Phe)
c.2656C>T (p.Leu886Phe)
c.2605C>T (p.Leu869Phe)
c.2524C>T (p.Leu842Phe)
n.2908C>T
Xg.18628408T>ACA412367087CDKL5c.2534T>A (p.Leu845His)
c.2657T>A (p.Leu886His)
c.2606T>A (p.Leu869His)
c.2525T>A (p.Leu842His)
n.2909T>A
Xg.18628408T>CCA412367089CDKL5c.2534T>C (p.Leu845Pro)
c.2657T>C (p.Leu886Pro)
c.2606T>C (p.Leu869Pro)
c.2525T>C (p.Leu842Pro)
n.2909T>C
Xg.18628408T>GCA412367092CDKL5c.2534T>G (p.Leu845Arg)
c.2657T>G (p.Leu886Arg)
c.2606T>G (p.Leu869Arg)
c.2525T>G (p.Leu842Arg)
n.2909T>G
Xg.18628409C>ACA515470570CDKL5c.2535C>A (p.Leu845=)
c.2658C>A (p.Leu886=)
c.2607C>A (p.Leu869=)
c.2526C>A (p.Leu842=)
n.2910C>A
Xg.18628409C>GCA515470571CDKL5c.2535C>G (p.Leu845=)
c.2658C>G (p.Leu886=)
c.2607C>G (p.Leu869=)
c.2526C>G (p.Leu842=)
n.2910C>G
 gnomAD v4
Xg.18628409C>TCA515470572CDKL5c.2535C>T (p.Leu845=)
c.2658C>T (p.Leu886=)
c.2607C>T (p.Leu869=)
c.2526C>T (p.Leu842=)
n.2910C>T
Xg.18628410T>ACA412367095CDKL5c.2536T>A (p.Ser846Thr)
c.2659T>A (p.Ser887Thr)
c.2608T>A (p.Ser870Thr)
c.2527T>A (p.Ser843Thr)
n.2911T>A
Xg.18628410T>CCA412367097CDKL5c.2536T>C (p.Ser846Pro)
c.2659T>C (p.Ser887Pro)
c.2608T>C (p.Ser870Pro)
c.2527T>C (p.Ser843Pro)
n.2911T>C
Xg.18628410T>GCA412367100CDKL5c.2536T>G (p.Ser846Ala)
c.2659T>G (p.Ser887Ala)
c.2608T>G (p.Ser870Ala)
c.2527T>G (p.Ser843Ala)
n.2911T>G
Xg.18628411C>ACA412367102CDKL5c.2537C>A (p.Ser846Tyr)
c.2660C>A (p.Ser887Tyr)
c.2609C>A (p.Ser870Tyr)
c.2528C>A (p.Ser843Tyr)
n.2912C>A
Xg.18628411C>GCA412367105CDKL5c.2537C>G (p.Ser846Cys)
c.2660C>G (p.Ser887Cys)
c.2609C>G (p.Ser870Cys)
c.2528C>G (p.Ser843Cys)
n.2912C>G
Xg.18628411C>TCA412367107CDKL5c.2537C>T (p.Ser846Phe)
c.2660C>T (p.Ser887Phe)
c.2609C>T (p.Ser870Phe)
c.2528C>T (p.Ser843Phe)
n.2912C>T
Xg.18628412T>ACA515470573CDKL5c.2538T>A (p.Ser846=)
c.2661T>A (p.Ser887=)
c.2610T>A (p.Ser870=)
c.2529T>A (p.Ser843=)
n.2913T>A
Xg.18628412T>CCA515470574CDKL5c.2538T>C (p.Ser846=)
c.2661T>C (p.Ser887=)
c.2610T>C (p.Ser870=)
c.2529T>C (p.Ser843=)
n.2913T>C
 gnomAD v4
Xg.18628412T>GCA515470575CDKL5c.2538T>G (p.Ser846=)
c.2661T>G (p.Ser887=)
c.2610T>G (p.Ser870=)
c.2529T>G (p.Ser843=)
n.2913T>G
Xg.18628413T>ACA412367113CDKL5c.2539T>A (p.Ser847Thr)
c.2662T>A (p.Ser888Thr)
c.2611T>A (p.Ser871Thr)
c.2530T>A (p.Ser844Thr)
n.2914T>A
Xg.18628413T>CCA412367111CDKL5c.2539T>C (p.Ser847Pro)
c.2662T>C (p.Ser888Pro)
c.2611T>C (p.Ser871Pro)
c.2530T>C (p.Ser844Pro)
n.2914T>C
Xg.18628413T>GCA412367110CDKL5c.2539T>G (p.Ser847Ala)
c.2662T>G (p.Ser888Ala)
c.2611T>G (p.Ser871Ala)
c.2530T>G (p.Ser844Ala)
n.2914T>G
Xg.18628414C>ACA412367118CDKL5c.2540C>A (p.Ser847Ter)
c.2663C>A (p.Ser888Ter)
c.2612C>A (p.Ser871Ter)
c.2531C>A (p.Ser844Ter)
n.2915C>A
Xg.18628414C=CA2417982173CDKL5c.2540C= (p.Ser847=)
c.2663C= (p.Ser888=)
c.2612C= (p.Ser871=)
c.2531C= (p.Ser844=)
n.2915C=
Xg.18628414C>GCA412367116CDKL5c.2540C>G (p.Ser847Trp)
c.2663C>G (p.Ser888Trp)
c.2612C>G (p.Ser871Trp)
c.2531C>G (p.Ser844Trp)
n.2915C>G
Xg.18628414C>TCA10360560CDKL5c.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
Xg.18628415G>ACA10360561CDKL5c.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
Xg.18628415G>CCA515470576CDKL5c.2541G>C (p.Ser847=)
c.2664G>C (p.Ser888=)
c.2613G>C (p.Ser871=)
c.2532G>C (p.Ser844=)
n.2916G>C
 gnomAD v4
Xg.18628415G=CA2417982174CDKL5c.2541G= (p.Ser847=)
c.2664G= (p.Ser888=)
c.2613G= (p.Ser871=)
c.2532G= (p.Ser844=)
n.2916G=
Xg.18628415G>TCA515470577CDKL5c.2541G>T (p.Ser847=)
c.2664G>T (p.Ser888=)
c.2613G>T (p.Ser871=)
c.2532G>T (p.Ser844=)
n.2916G>T
Xg.18628416G>ACA412367124CDKL5c.2542G>A (p.Ala848Thr)
c.2665G>A (p.Ala889Thr)
c.2614G>A (p.Ala872Thr)
c.2533G>A (p.Ala845Thr)
n.2917G>A
Xg.18628416G>CCA412367126CDKL5c.2542G>C (p.Ala848Pro)
c.2665G>C (p.Ala889Pro)
c.2614G>C (p.Ala872Pro)
c.2533G>C (p.Ala845Pro)
n.2917G>C
Xg.18628416G>TCA412367128CDKL5c.2542G>T (p.Ala848Ser)
c.2665G>T (p.Ala889Ser)
c.2614G>T (p.Ala872Ser)
c.2533G>T (p.Ala845Ser)
n.2917G>T
 gnomAD v4
Xg.18628417C>ACA412367132CDKL5c.2543C>A (p.Ala848Asp)
c.2666C>A (p.Ala889Asp)
c.2615C>A (p.Ala872Asp)
c.2534C>A (p.Ala845Asp)
n.2918C>A
Xg.18628417C>GCA412367133CDKL5c.2543C>G (p.Ala848Gly)
c.2666C>G (p.Ala889Gly)
c.2615C>G (p.Ala872Gly)
c.2534C>G (p.Ala845Gly)
n.2918C>G
Xg.18628417C>TCA412367135CDKL5c.2543C>T (p.Ala848Val)
c.2666C>T (p.Ala889Val)
c.2615C>T (p.Ala872Val)
c.2534C>T (p.Ala845Val)
n.2918C>T
Xg.18628418C>ACA515470578CDKL5c.2544C>A (p.Ala848=)
c.2667C>A (p.Ala889=)
c.2616C>A (p.Ala872=)
c.2535C>A (p.Ala845=)
n.2919C>A
Xg.18628418C=CA2417982175CDKL5c.2544C= (p.Ala848=)
c.2667C= (p.Ala889=)
c.2616C= (p.Ala872=)
c.2535C= (p.Ala845=)
n.2919C=
Xg.18628418C>GCA515470579CDKL5c.2544C>G (p.Ala848=)
c.2667C>G (p.Ala889=)
c.2616C>G (p.Ala872=)
c.2535C>G (p.Ala845=)
n.2919C>G
 dbSNP
Xg.18628418C>TCA515470580CDKL5c.2544C>T (p.Ala848=)
c.2667C>T (p.Ala889=)
c.2616C>T (p.Ala872=)
c.2535C>T (p.Ala845=)
n.2919C>T
Xg.18628419T>ACA412367137CDKL5c.2545T>A (p.Ser849Thr)
c.2668T>A (p.Ser890Thr)
c.2617T>A (p.Ser873Thr)
c.2536T>A (p.Ser846Thr)
n.2920T>A
Xg.18628419T>CCA412367139CDKL5c.2545T>C (p.Ser849Pro)
c.2668T>C (p.Ser890Pro)
c.2617T>C (p.Ser873Pro)
c.2536T>C (p.Ser846Pro)
n.2920T>C
Xg.18628419T>GCA412367141CDKL5c.2545T>G (p.Ser849Ala)
c.2668T>G (p.Ser890Ala)
c.2617T>G (p.Ser873Ala)
c.2536T>G (p.Ser846Ala)
n.2920T>G
 ClinVar
Xg.18628420C>ACA412367143CDKL5c.2546C>A (p.Ser849Ter)
c.2669C>A (p.Ser890Ter)
c.2618C>A (p.Ser873Ter)
c.2537C>A (p.Ser846Ter)
n.2921C>A
Xg.18628420C=CA2417982177CDKL5c.2546C= (p.Ser849=)
c.2669C= (p.Ser890=)
c.2618C= (p.Ser873=)
c.2537C= (p.Ser846=)
n.2921C=
Xg.18628420C>GCA412367145CDKL5c.2546C>G (p.Ser849Ter)
c.2669C>G (p.Ser890Ter)
c.2618C>G (p.Ser873Ter)
c.2537C>G (p.Ser846Ter)
n.2921C>G
Xg.18628420C>TCA16621285CDKL5c.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
Xg.18628420_18628421delinsCACA2417982176CDKL5c.2546_2547delinsCA (p.Ser849=)
c.2669_2670delinsCA (p.Ser890=)
c.2618_2619delinsCA (p.Ser873=)
c.2537_2538delinsCA (p.Ser846=)
n.2921_2922delinsCA
Xg.18628421A=CA2417982178CDKL5c.2547A= (p.Ser849=)
c.2670A= (p.Ser890=)
c.2619A= (p.Ser873=)
c.2538A= (p.Ser846=)
n.2922A=
Xg.18628421A>CCA10360562CDKL5c.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
Xg.18628421A>GCA515470582CDKL5c.2547A>G (p.Ser849=)
c.2670A>G (p.Ser890=)
c.2619A>G (p.Ser873=)
c.2538A>G (p.Ser846=)
n.2922A>G
Xg.18628421A>TCA515470583CDKL5c.2547A>T (p.Ser849=)
c.2670A>T (p.Ser890=)
c.2619A>T (p.Ser873=)
c.2538A>T (p.Ser846=)
n.2922A>T
Xg.18628423delCA294691CDKL5c.2549del (p.Asn850IlefsTer13)
c.2672del (p.Asn891IlefsTer13)
c.2621del (p.Asn874IlefsTer13)
c.2540del (p.Asn847IlefsTer13)
n.2924del
 ClinVar dbSNP
Xg.18628422A>CCA412367156CDKL5c.2548A>C (p.Asn850His)
c.2671A>C (p.Asn891His)
c.2620A>C (p.Asn874His)
c.2539A>C (p.Asn847His)
n.2923A>C
Xg.18628422A>GCA412367152CDKL5c.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
Xg.18628422A>TCA412367154CDKL5c.2548A>T (p.Asn850Tyr)
c.2671A>T (p.Asn891Tyr)
c.2620A>T (p.Asn874Tyr)
c.2539A>T (p.Asn847Tyr)
n.2923A>T
Xg.18628423A>CCA412367159CDKL5c.2549A>C (p.Asn850Thr)
c.2672A>C (p.Asn891Thr)
c.2621A>C (p.Asn874Thr)
c.2540A>C (p.Asn847Thr)
n.2924A>C
Xg.18628423A>GCA412367160CDKL5c.2549A>G (p.Asn850Ser)
c.2672A>G (p.Asn891Ser)
c.2621A>G (p.Asn874Ser)
c.2540A>G (p.Asn847Ser)
n.2924A>G
Xg.18628423A>TCA412367161CDKL5c.2549A>T (p.Asn850Ile)
c.2672A>T (p.Asn891Ile)
c.2621A>T (p.Asn874Ile)
c.2540A>T (p.Asn847Ile)
n.2924A>T
Xg.18628424T>ACA412367163CDKL5c.2550T>A (p.Asn850Lys)
c.2673T>A (p.Asn891Lys)
c.2622T>A (p.Asn874Lys)
c.2541T>A (p.Asn847Lys)
n.2925T>A
Xg.18628424T>CCA515470584CDKL5c.2550T>C (p.Asn850=)
c.2673T>C (p.Asn891=)
c.2622T>C (p.Asn874=)
c.2541T>C (p.Asn847=)
n.2925T>C
Xg.18628424T>GCA412367165CDKL5c.2550T>G (p.Asn850Lys)
c.2673T>G (p.Asn891Lys)
c.2622T>G (p.Asn874Lys)
c.2541T>G (p.Asn847Lys)
n.2925T>G
Xg.18628425C>ACA10360563CDKL5c.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
Xg.18628425C=CA2417982179CDKL5c.2551C= (p.His851=)
c.2674C= (p.His892=)
c.2623C= (p.His875=)
c.2542C= (p.His848=)
n.2926C=
Xg.18628425C>GCA412367169CDKL5c.2551C>G (p.His851Asp)
c.2674C>G (p.His892Asp)
c.2623C>G (p.His875Asp)
c.2542C>G (p.His848Asp)
n.2926C>G
Xg.18628425C>TCA412367171CDKL5c.2551C>T (p.His851Tyr)
c.2674C>T (p.His892Tyr)
c.2623C>T (p.His875Tyr)
c.2542C>T (p.His848Tyr)
n.2926C>T
Xg.18628426A=CA2417982180CDKL5c.2552A= (p.His851=)
c.2675A= (p.His892=)
c.2624A= (p.His875=)
c.2543A= (p.His848=)
n.2927A=
Xg.18628426A>CCA412367177CDKL5c.2552A>C (p.His851Pro)
c.2675A>C (p.His892Pro)
c.2624A>C (p.His875Pro)
c.2543A>C (p.His848Pro)
n.2927A>C
Xg.18628426A>GCA10360564CDKL5c.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
Xg.18628426A>TCA412367174CDKL5c.2552A>T (p.His851Leu)
c.2675A>T (p.His892Leu)
c.2624A>T (p.His875Leu)
c.2543A>T (p.His848Leu)
n.2927A>T
Xg.18628427C>ACA412367181CDKL5c.2553C>A (p.His851Gln)
c.2676C>A (p.His892Gln)
c.2625C>A (p.His875Gln)
c.2544C>A (p.His848Gln)
n.2928C>A
Xg.18628427C>GCA412367182CDKL5c.2553C>G (p.His851Gln)
c.2676C>G (p.His892Gln)
c.2625C>G (p.His875Gln)
c.2544C>G (p.His848Gln)
n.2928C>G
 gnomAD v4
Xg.18628427C>TCA515470586CDKL5c.2553C>T (p.His851=)
c.2676C>T (p.His892=)
c.2625C>T (p.His875=)
c.2544C>T (p.His848=)
n.2928C>T
Xg.18628428C>ACA412367183CDKL5c.2554C>A (p.Pro852Thr)
c.2677C>A (p.Pro893Thr)
c.2626C>A (p.Pro876Thr)
c.2545C>A (p.Pro849Thr)
n.2929C>A
Xg.18628428C>GCA412367185CDKL5c.2554C>G (p.Pro852Ala)
c.2677C>G (p.Pro893Ala)
c.2626C>G (p.Pro876Ala)
c.2545C>G (p.Pro849Ala)
n.2929C>G
Xg.18628428C>TCA412367188CDKL5c.2554C>T (p.Pro852Ser)
c.2677C>T (p.Pro893Ser)
c.2626C>T (p.Pro876Ser)
c.2545C>T (p.Pro849Ser)
n.2929C>T
Xg.18628429C>ACA412367190CDKL5c.2555C>A (p.Pro852Gln)
c.2678C>A (p.Pro893Gln)
c.2627C>A (p.Pro876Gln)
c.2546C>A (p.Pro849Gln)
n.2930C>A
Xg.18628429C=CA2417982181CDKL5c.2555C= (p.Pro852=)
c.2678C= (p.Pro893=)
c.2627C= (p.Pro876=)
c.2546C= (p.Pro849=)
n.2930C=
Xg.18628429C>GCA294760CDKL5c.2555C>G (p.Pro852Arg)
c.2678C>G (p.Pro893Arg)
c.2627C>G (p.Pro876Arg)
c.2546C>G (p.Pro849Arg)
n.2930C>G
 ClinVar dbSNP
Xg.18628429C>TCA294764CDKL5c.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
Xg.18628430G>ACA10360565CDKL5c.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
Xg.18628430G>CCA515470587CDKL5c.2556G>C (p.Pro852=)
c.2679G>C (p.Pro893=)
c.2628G>C (p.Pro876=)
c.2547G>C (p.Pro849=)
n.2931G>C
Xg.18628430G=CA2417982182CDKL5c.2556G= (p.Pro852=)
c.2679G= (p.Pro893=)
c.2628G= (p.Pro876=)
c.2547G= (p.Pro849=)
n.2931G=
Xg.18628430G>TCA515470588CDKL5c.2556G>T (p.Pro852=)
c.2679G>T (p.Pro893=)
c.2628G>T (p.Pro876=)
c.2547G>T (p.Pro849=)
n.2931G>T
Xg.18628431G>ACA412367197CDKL5c.2557G>A (p.Ala853Thr)
c.2680G>A (p.Ala894Thr)
c.2629G>A (p.Ala877Thr)
c.2548G>A (p.Ala850Thr)
n.2932G>A
Xg.18628431G>CCA412367198CDKL5c.2557G>C (p.Ala853Pro)
c.2680G>C (p.Ala894Pro)
c.2629G>C (p.Ala877Pro)
c.2548G>C (p.Ala850Pro)
n.2932G>C
Xg.18628431G>TCA412367201CDKL5c.2557G>T (p.Ala853Ser)
c.2680G>T (p.Ala894Ser)
c.2629G>T (p.Ala877Ser)
c.2548G>T (p.Ala850Ser)
n.2932G>T
Xg.18628432C>ACA412367207CDKL5c.2558C>A (p.Ala853Asp)
c.2681C>A (p.Ala894Asp)
c.2630C>A (p.Ala877Asp)
c.2549C>A (p.Ala850Asp)
n.2933C>A
Xg.18628432C>GCA412367209CDKL5c.2558C>G (p.Ala853Gly)
c.2681C>G (p.Ala894Gly)
c.2630C>G (p.Ala877Gly)
c.2549C>G (p.Ala850Gly)
n.2933C>G
Xg.18628432C>TCA412367205CDKL5c.2558C>T (p.Ala853Val)
c.2681C>T (p.Ala894Val)
c.2630C>T (p.Ala877Val)
c.2549C>T (p.Ala850Val)
n.2933C>T
Xg.18628433T>ACA515470589CDKL5c.2559T>A (p.Ala853=)
c.2682T>A (p.Ala894=)
c.2631T>A (p.Ala877=)
c.2550T>A (p.Ala850=)
n.2934T>A
Xg.18628433T>CCA515470590CDKL5c.2559T>C (p.Ala853=)
c.2682T>C (p.Ala894=)
c.2631T>C (p.Ala877=)
c.2550T>C (p.Ala850=)
n.2934T>C
Xg.18628433T>GCA515470591CDKL5c.2559T>G (p.Ala853=)
c.2682T>G (p.Ala894=)
c.2631T>G (p.Ala877=)
c.2550T>G (p.Ala850=)
n.2934T>G
Xg.18628434T>ACA412367212CDKL5c.2560T>A (p.Ser854Thr)
c.2683T>A (p.Ser895Thr)
c.2632T>A (p.Ser878Thr)
c.2551T>A (p.Ser851Thr)
n.2935T>A
Xg.18628434T>CCA412367214CDKL5c.2560T>C (p.Ser854Pro)
c.2683T>C (p.Ser895Pro)
c.2632T>C (p.Ser878Pro)
c.2551T>C (p.Ser851Pro)
n.2935T>C
 ClinVar
Xg.18628434T>GCA412367216CDKL5c.2560T>G (p.Ser854Ala)
c.2683T>G (p.Ser895Ala)
c.2632T>G (p.Ser878Ala)
c.2551T>G (p.Ser851Ala)
n.2935T>G
Xg.18628435C>ACA412367219CDKL5c.2561C>A (p.Ser854Tyr)
c.2684C>A (p.Ser895Tyr)
c.2633C>A (p.Ser878Tyr)
c.2552C>A (p.Ser851Tyr)
n.2936C>A
Xg.18628435C>GCA412367221CDKL5c.2561C>G (p.Ser854Cys)
c.2684C>G (p.Ser895Cys)
c.2633C>G (p.Ser878Cys)
c.2552C>G (p.Ser851Cys)
n.2936C>G
Xg.18628435C>TCA412367223CDKL5c.2561C>T (p.Ser854Phe)
c.2684C>T (p.Ser895Phe)
c.2633C>T (p.Ser878Phe)
c.2552C>T (p.Ser851Phe)
n.2936C>T
Xg.18628436C>ACA515470592CDKL5c.2562C>A (p.Ser854=)
c.2685C>A (p.Ser895=)
c.2634C>A (p.Ser878=)
c.2553C>A (p.Ser851=)
n.2937C>A
Xg.18628436C>GCA515470593CDKL5c.2562C>G (p.Ser854=)
c.2685C>G (p.Ser895=)
c.2634C>G (p.Ser878=)
c.2553C>G (p.Ser851=)
n.2937C>G
Xg.18628436C>TCA515470594CDKL5c.2562C>T (p.Ser854=)
c.2685C>T (p.Ser895=)
c.2634C>T (p.Ser878=)
c.2553C>T (p.Ser851=)
n.2937C>T
Xg.18628437T>ACA412367231CDKL5c.2563T>A (p.Ser855Thr)
c.2686T>A (p.Ser896Thr)
c.2635T>A (p.Ser879Thr)
c.2554T>A (p.Ser852Thr)
n.2938T>A
Xg.18628437T>CCA412367226CDKL5c.2563T>C (p.Ser855Pro)
c.2686T>C (p.Ser896Pro)
c.2635T>C (p.Ser879Pro)
c.2554T>C (p.Ser852Pro)
n.2938T>C
Xg.18628437T>GCA412367229CDKL5c.2563T>G (p.Ser855Ala)
c.2686T>G (p.Ser896Ala)
c.2635T>G (p.Ser879Ala)
c.2554T>G (p.Ser852Ala)
n.2938T>G
Xg.18628438C>ACA412367235CDKL5c.2564C>A (p.Ser855Ter)
c.2687C>A (p.Ser896Ter)
c.2636C>A (p.Ser879Ter)
c.2555C>A (p.Ser852Ter)
n.2939C>A
Xg.18628438C>GCA412367236CDKL5c.2564C>G (p.Ser855Ter)
c.2687C>G (p.Ser896Ter)
c.2636C>G (p.Ser879Ter)
c.2555C>G (p.Ser852Ter)
n.2939C>G
Xg.18628438C>TCA412367238CDKL5c.2564C>T (p.Ser855Leu)
c.2687C>T (p.Ser896Leu)
c.2636C>T (p.Ser879Leu)
c.2555C>T (p.Ser852Leu)
n.2939C>T
Xg.18628439A>CCA515470595CDKL5c.2565A>C (p.Ser855=)
c.2688A>C (p.Ser896=)
c.2637A>C (p.Ser879=)
c.2556A>C (p.Ser852=)
n.2940A>C
Xg.18628439A>GCA515470596CDKL5c.2565A>G (p.Ser855=)
c.2688A>G (p.Ser896=)
c.2637A>G (p.Ser879=)
c.2556A>G (p.Ser852=)
n.2940A>G
 gnomAD v4
Xg.18628439A>TCA515470597CDKL5c.2565A>T (p.Ser855=)
c.2688A>T (p.Ser896=)
c.2637A>T (p.Ser879=)
c.2556A>T (p.Ser852=)
n.2940A>T
Xg.18628440G>ACA412367241CDKL5c.2566G>A (p.Asp856Asn)
c.2689G>A (p.Asp897Asn)
c.2638G>A (p.Asp880Asn)
c.2557G>A (p.Asp853Asn)
n.2941G>A
Xg.18628440G>CCA412367243CDKL5c.2566G>C (p.Asp856His)
c.2689G>C (p.Asp897His)
c.2638G>C (p.Asp880His)
c.2557G>C (p.Asp853His)
n.2941G>C
Xg.18628440G>TCA412367245CDKL5c.2566G>T (p.Asp856Tyr)
c.2689G>T (p.Asp897Tyr)
c.2638G>T (p.Asp880Tyr)
c.2557G>T (p.Asp853Tyr)
n.2941G>T
Xg.18628441A=CA2417982183CDKL5c.2567A= (p.Asp856=)
c.2690A= (p.Asp897=)
c.2639A= (p.Asp880=)
c.2558A= (p.Asp853=)
n.2942A=
Xg.18628441A>CCA412367249CDKL5c.2567A>C (p.Asp856Ala)
c.2690A>C (p.Asp897Ala)
c.2639A>C (p.Asp880Ala)
c.2558A>C (p.Asp853Ala)
n.2942A>C
Xg.18628441A>GCA412367252CDKL5c.2567A>G (p.Asp856Gly)
c.2690A>G (p.Asp897Gly)
c.2639A>G (p.Asp880Gly)
c.2558A>G (p.Asp853Gly)
n.2942A>G
Xg.18628441A>TCA10360566CDKL5c.2567A>T (p.Asp856Val)
c.2690A>T (p.Asp897Val)
c.2639A>T (p.Asp880Val)
c.2558A>T (p.Asp853Val)
n.2942A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628442T>ACA412367255CDKL5c.2568T>A (p.Asp856Glu)
c.2691T>A (p.Asp897Glu)
c.2640T>A (p.Asp880Glu)
c.2559T>A (p.Asp853Glu)
n.2943T>A
Xg.18628442T>CCA515470598CDKL5c.2568T>C (p.Asp856=)
c.2691T>C (p.Asp897=)
c.2640T>C (p.Asp880=)
c.2559T>C (p.Asp853=)
n.2943T>C
Xg.18628442T>GCA412367257CDKL5c.2568T>G (p.Asp856Glu)
c.2691T>G (p.Asp897Glu)
c.2640T>G (p.Asp880Glu)
c.2559T>G (p.Asp853Glu)
n.2943T>G
Xg.18628442dupCA2695231346CDKL5c.2568dup (p.Pro857SerfsTer?)
c.2691dup (p.Pro898SerfsTer?)
c.2640dup (p.Pro881SerfsTer?)
c.2559dup (p.Pro854SerfsTer?)
n.2943dup
Xg.18628442_18628443delinsTCCA2417982184CDKL5c.2568_2569delinsTC (p.Asp856=)
c.2691_2692delinsTC (p.Asp897=)
c.2640_2641delinsTC (p.Asp880=)
c.2559_2560delinsTC (p.Asp853=)
n.2943_2944delinsTC
Xg.18628443C>ACA412367259CDKL5c.2569C>A (p.Pro857Thr)
c.2692C>A (p.Pro898Thr)
c.2641C>A (p.Pro881Thr)
c.2560C>A (p.Pro854Thr)
n.2944C>A
 gnomAD v4
Xg.18628443C=CA2417982185CDKL5c.2569C= (p.Pro857=)
c.2692C= (p.Pro898=)
c.2641C= (p.Pro881=)
c.2560C= (p.Pro854=)
n.2944C=
Xg.18628443C>GCA412367263CDKL5c.2569C>G (p.Pro857Ala)
c.2692C>G (p.Pro898Ala)
c.2641C>G (p.Pro881Ala)
c.2560C>G (p.Pro854Ala)
n.2944C>G
 dbSNP
Xg.18628443C>TCA412367265CDKL5c.2569C>T (p.Pro857Ser)
c.2692C>T (p.Pro898Ser)
c.2641C>T (p.Pro881Ser)
c.2560C>T (p.Pro854Ser)
n.2944C>T
 gnomAD v4
Xg.18628446delCA171629CDKL5c.2572del (p.Arg858AlafsTer5)
c.2695del (p.Arg899AlafsTer5)
c.2644del (p.Arg882AlafsTer5)
c.2563del (p.Arg855AlafsTer5)
n.2947del
 ClinVar dbSNP
Xg.18628444C>ACA412367267CDKL5c.2570C>A (p.Pro857His)
c.2693C>A (p.Pro898His)
c.2642C>A (p.Pro881His)
c.2561C>A (p.Pro854His)
n.2945C>A
Xg.18628444C=CA2417982186CDKL5c.2570C= (p.Pro857=)
c.2693C= (p.Pro898=)
c.2642C= (p.Pro881=)
c.2561C= (p.Pro854=)
n.2945C=
Xg.18628444C>GCA412367269CDKL5c.2570C>G (p.Pro857Arg)
c.2693C>G (p.Pro898Arg)
c.2642C>G (p.Pro881Arg)
c.2561C>G (p.Pro854Arg)
n.2945C>G
 ClinVar
Xg.18628444C>TCA412367270CDKL5c.2570C>T (p.Pro857Leu)
c.2693C>T (p.Pro898Leu)
c.2642C>T (p.Pro881Leu)
c.2561C>T (p.Pro854Leu)
n.2945C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18628445C>ACA515470599CDKL5c.2571C>A (p.Pro857=)
c.2694C>A (p.Pro898=)
c.2643C>A (p.Pro881=)
c.2562C>A (p.Pro854=)
n.2946C>A
Xg.18628445C>GCA515470600CDKL5c.2571C>G (p.Pro857=)
c.2694C>G (p.Pro898=)
c.2643C>G (p.Pro881=)
c.2562C>G (p.Pro854=)
n.2946C>G
Xg.18628445C>TCA515470601CDKL5c.2571C>T (p.Pro857=)
c.2694C>T (p.Pro898=)
c.2643C>T (p.Pro881=)
c.2562C>T (p.Pro854=)
n.2946C>T
Xg.18628446C>ACA412367272CDKL5c.2572C>A (p.Arg858Ser)
c.2695C>A (p.Arg899Ser)
c.2644C>A (p.Arg882Ser)
c.2563C>A (p.Arg855Ser)
n.2947C>A
Xg.18628446C=CA2417982187CDKL5c.2572C= (p.Arg858=)
c.2695C= (p.Arg899=)
c.2644C= (p.Arg882=)
c.2563C= (p.Arg855=)
n.2947C=
Xg.18628446C>GCA412367274CDKL5c.2572C>G (p.Arg858Gly)
c.2695C>G (p.Arg899Gly)
c.2644C>G (p.Arg882Gly)
c.2563C>G (p.Arg855Gly)
n.2947C>G
 gnomAD v4
Xg.18628446C>TCA10360567CDKL5c.2572C>T (p.Arg858Cys)
c.2695C>T (p.Arg899Cys)
c.2644C>T (p.Arg882Cys)
c.2563C>T (p.Arg855Cys)
n.2947C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628447G>ACA10360568CDKL5c.2573G>A (p.Arg858His)
c.2696G>A (p.Arg899His)
c.2645G>A (p.Arg882His)
c.2564G>A (p.Arg855His)
n.2948G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628447G>CCA412367279CDKL5c.2573G>C (p.Arg858Pro)
c.2696G>C (p.Arg899Pro)
c.2645G>C (p.Arg882Pro)
c.2564G>C (p.Arg855Pro)
n.2948G>C
Xg.18628447G=CA2417982188CDKL5c.2573G= (p.Arg858=)
c.2696G= (p.Arg899=)
c.2645G= (p.Arg882=)
c.2564G= (p.Arg855=)
n.2948G=
Xg.18628447G>TCA412367281CDKL5c.2573G>T (p.Arg858Leu)
c.2696G>T (p.Arg899Leu)
c.2645G>T (p.Arg882Leu)
c.2564G>T (p.Arg855Leu)
n.2948G>T
Xg.18628448C>ACA515470602CDKL5c.2574C>A (p.Arg858=)
c.2697C>A (p.Arg899=)
c.2646C>A (p.Arg882=)
c.2565C>A (p.Arg855=)
n.2949C>A
Xg.18628448C>GCA515470604CDKL5c.2574C>G (p.Arg858=)
c.2697C>G (p.Arg899=)
c.2646C>G (p.Arg882=)
c.2565C>G (p.Arg855=)
n.2949C>G
Xg.18628448C>TCA515470603CDKL5c.2574C>T (p.Arg858=)
c.2697C>T (p.Arg899=)
c.2646C>T (p.Arg882=)
c.2565C>T (p.Arg855=)
n.2949C>T
 COSMIC
Xg.18628449T>ACA412367284CDKL5c.2575T>A (p.Phe859Ile)
c.2698T>A (p.Phe900Ile)
c.2647T>A (p.Phe883Ile)
c.2566T>A (p.Phe856Ile)
n.2950T>A
Xg.18628449T>CCA412367286CDKL5c.2575T>C (p.Phe859Leu)
c.2698T>C (p.Phe900Leu)
c.2647T>C (p.Phe883Leu)
c.2566T>C (p.Phe856Leu)
n.2950T>C
Xg.18628449T>GCA412367289CDKL5c.2575T>G (p.Phe859Val)
c.2698T>G (p.Phe900Val)
c.2647T>G (p.Phe883Val)
c.2566T>G (p.Phe856Val)
n.2950T>G
Xg.18628450T>ACA412367292CDKL5c.2576T>A (p.Phe859Tyr)
c.2699T>A (p.Phe900Tyr)
c.2648T>A (p.Phe883Tyr)
c.2567T>A (p.Phe856Tyr)
n.2951T>A
 dbSNP gnomAD v4
Xg.18628450T>CCA412367296CDKL5c.2576T>C (p.Phe859Ser)
c.2699T>C (p.Phe900Ser)
c.2648T>C (p.Phe883Ser)
c.2567T>C (p.Phe856Ser)
n.2951T>C
Xg.18628450T>GCA412367294CDKL5c.2576T>G (p.Phe859Cys)
c.2699T>G (p.Phe900Cys)
c.2648T>G (p.Phe883Cys)
c.2567T>G (p.Phe856Cys)
n.2951T>G
 gnomAD v4
Xg.18628450T=CA2417982189CDKL5c.2576T= (p.Phe859=)
c.2699T= (p.Phe900=)
c.2648T= (p.Phe883=)
c.2567T= (p.Phe856=)
n.2951T=
Xg.18628451C>ACA412367298CDKL5c.2577C>A (p.Phe859Leu)
c.2700C>A (p.Phe900Leu)
c.2649C>A (p.Phe883Leu)
c.2568C>A (p.Phe856Leu)
n.2952C>A
Xg.18628451C>GCA412367301CDKL5c.2577C>G (p.Phe859Leu)
c.2700C>G (p.Phe900Leu)
c.2649C>G (p.Phe883Leu)
c.2568C>G (p.Phe856Leu)
n.2952C>G
Xg.18628451C>TCA515470605CDKL5c.2577C>T (p.Phe859=)
c.2700C>T (p.Phe900=)
c.2649C>T (p.Phe883=)
c.2568C>T (p.Phe856=)
n.2952C>T
Xg.18628453_18628456dupCA2499226526CDKL5c.2579_2582dup (p.Leu862AlafsTer?)
c.2702_2705dup (p.Leu903AlafsTer?)
c.2651_2654dup (p.Leu886AlafsTer?)
c.2570_2573dup (p.Leu859AlafsTer?)
n.2954_2957dup
 ClinVar dbSNP
Xg.18628452C>ACA412367303CDKL5c.2578C>A (p.Gln860Lys)
c.2701C>A (p.Gln901Lys)
c.2650C>A (p.Gln884Lys)
c.2569C>A (p.Gln857Lys)
n.2953C>A
Xg.18628452C=CA2417982190CDKL5c.2578C= (p.Gln860=)
c.2701C= (p.Gln901=)
c.2650C= (p.Gln884=)
c.2569C= (p.Gln857=)
n.2953C=
Xg.18628452C>GCA412367305CDKL5c.2578C>G (p.Gln860Glu)
c.2701C>G (p.Gln901Glu)
c.2650C>G (p.Gln884Glu)
c.2569C>G (p.Gln857Glu)
n.2953C>G
Xg.18628452C>TCA412367307CDKL5c.2578C>T (p.Gln860Ter)
c.2701C>T (p.Gln901Ter)
c.2650C>T (p.Gln884Ter)
c.2569C>T (p.Gln857Ter)
n.2953C>T
 ClinVar dbSNP
Xg.18628453A>CCA412367308CDKL5c.2579A>C (p.Gln860Pro)
c.2702A>C (p.Gln901Pro)
c.2651A>C (p.Gln884Pro)
c.2570A>C (p.Gln857Pro)
n.2954A>C
Xg.18628453A>GCA412367310CDKL5c.2579A>G (p.Gln860Arg)
c.2702A>G (p.Gln901Arg)
c.2651A>G (p.Gln884Arg)
c.2570A>G (p.Gln857Arg)
n.2954A>G
Xg.18628453A>TCA412367312CDKL5c.2579A>T (p.Gln860Leu)
c.2702A>T (p.Gln901Leu)
c.2651A>T (p.Gln884Leu)
c.2570A>T (p.Gln857Leu)
n.2954A>T
Xg.18628454G>ACA515470606CDKL5c.2580G>A (p.Gln860=)
c.2703G>A (p.Gln901=)
c.2652G>A (p.Gln884=)
c.2571G>A (p.Gln857=)
n.2955G>A
Xg.18628454G>CCA412367314CDKL5c.2580G>C (p.Gln860His)
c.2703G>C (p.Gln901His)
c.2652G>C (p.Gln884His)
c.2571G>C (p.Gln857His)
n.2955G>C
Xg.18628454G>TCA412367316CDKL5c.2580G>T (p.Gln860His)
c.2703G>T (p.Gln901His)
c.2652G>T (p.Gln884His)
c.2571G>T (p.Gln857His)
n.2955G>T
Xg.18628455C>ACA412367323CDKL5c.2581C>A (p.Pro861Thr)
c.2704C>A (p.Pro902Thr)
c.2653C>A (p.Pro885Thr)
c.2572C>A (p.Pro858Thr)
n.2956C>A
Xg.18628455C=CA2417982191CDKL5c.2581C= (p.Pro861=)
c.2704C= (p.Pro902=)
c.2653C= (p.Pro885=)
c.2572C= (p.Pro858=)
n.2956C=
Xg.18628455C>GCA412367321CDKL5c.2581C>G (p.Pro861Ala)
c.2704C>G (p.Pro902Ala)
c.2653C>G (p.Pro885Ala)
c.2572C>G (p.Pro858Ala)
n.2956C>G
Xg.18628455C>TCA412367319CDKL5c.2581C>T (p.Pro861Ser)
c.2704C>T (p.Pro902Ser)
c.2653C>T (p.Pro885Ser)
c.2572C>T (p.Pro858Ser)
n.2956C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628456C>ACA412367325CDKL5c.2582C>A (p.Pro861His)
c.2705C>A (p.Pro902His)
c.2654C>A (p.Pro885His)
c.2573C>A (p.Pro858His)
n.2957C>A
Xg.18628456C>GCA412367327CDKL5c.2582C>G (p.Pro861Arg)
c.2705C>G (p.Pro902Arg)
c.2654C>G (p.Pro885Arg)
c.2573C>G (p.Pro858Arg)
n.2957C>G
Xg.18628456C>TCA412367328CDKL5c.2582C>T (p.Pro861Leu)
c.2705C>T (p.Pro902Leu)
c.2654C>T (p.Pro885Leu)
c.2573C>T (p.Pro858Leu)
n.2957C>T
 gnomAD v4
Xg.18628457C>ACA515470607CDKL5c.2583C>A (p.Pro861=)
c.2706C>A (p.Pro902=)
c.2655C>A (p.Pro885=)
c.2574C>A (p.Pro858=)
n.2958C>A
Xg.18628457C>GCA515470608CDKL5c.2583C>G (p.Pro861=)
c.2706C>G (p.Pro902=)
c.2655C>G (p.Pro885=)
c.2574C>G (p.Pro858=)
n.2958C>G
 gnomAD v4
Xg.18628457C>TCA515470609CDKL5c.2583C>T (p.Pro861=)
c.2706C>T (p.Pro902=)
c.2655C>T (p.Pro885=)
c.2574C>T (p.Pro858=)
n.2958C>T
 COSMIC
Xg.18628458T>ACA412367331CDKL5c.2584T>A (p.Leu862Ile)
c.2707T>A (p.Leu903Ile)
c.2656T>A (p.Leu886Ile)
c.2575T>A (p.Leu859Ile)
n.2959T>A
Xg.18628458T>CCA515470611CDKL5c.2584T>C (p.Leu862=)
c.2707T>C (p.Leu903=)
c.2656T>C (p.Leu886=)
c.2575T>C (p.Leu859=)
n.2959T>C
Xg.18628458T>GCA412367333CDKL5c.2584T>G (p.Leu862Val)
c.2707T>G (p.Leu903Val)
c.2656T>G (p.Leu886Val)
c.2575T>G (p.Leu859Val)
n.2959T>G
Xg.18628459T>ACA412367336CDKL5c.2585T>A (p.Leu862Ter)
c.2708T>A (p.Leu903Ter)
c.2657T>A (p.Leu886Ter)
c.2576T>A (p.Leu859Ter)
n.2960T>A
Xg.18628459T>CCA412367338CDKL5c.2585T>C (p.Leu862Ser)
c.2708T>C (p.Leu903Ser)
c.2657T>C (p.Leu886Ser)
c.2576T>C (p.Leu859Ser)
n.2960T>C
Xg.18628459T>GCA412367340CDKL5c.2585T>G (p.Leu862Ter)
c.2708T>G (p.Leu903Ter)
c.2657T>G (p.Leu886Ter)
c.2576T>G (p.Leu859Ter)
n.2960T>G
Xg.18628460A>CCA412367343CDKL5c.2586A>C (p.Leu862Phe)
c.2709A>C (p.Leu903Phe)
c.2658A>C (p.Leu886Phe)
c.2577A>C (p.Leu859Phe)
n.2961A>C
Xg.18628460A>GCA515470612CDKL5c.2586A>G (p.Leu862=)
c.2709A>G (p.Leu903=)
c.2658A>G (p.Leu886=)
c.2577A>G (p.Leu859=)
n.2961A>G
 gnomAD v4
Xg.18628460A>TCA412367345CDKL5c.2586A>T (p.Leu862Phe)
c.2709A>T (p.Leu903Phe)
c.2658A>T (p.Leu886Phe)
c.2577A>T (p.Leu859Phe)
n.2961A>T
Xg.18628461A=CA2417982192CDKL5c.2587A= (p.Thr863=)
c.2710A= (p.Thr904=)
c.2659A= (p.Thr887=)
c.2578A= (p.Thr860=)
n.2962A=
Xg.18628461A>CCA412367348CDKL5c.2587A>C (p.Thr863Pro)
c.2710A>C (p.Thr904Pro)
c.2659A>C (p.Thr887Pro)
c.2578A>C (p.Thr860Pro)
n.2962A>C
Xg.18628461A>GCA10360569CDKL5c.2587A>G (p.Thr863Ala)
c.2710A>G (p.Thr904Ala)
c.2659A>G (p.Thr887Ala)
c.2578A>G (p.Thr860Ala)
n.2962A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628461A>TCA412367352CDKL5c.2587A>T (p.Thr863Ser)
c.2710A>T (p.Thr904Ser)
c.2659A>T (p.Thr887Ser)
c.2578A>T (p.Thr860Ser)
n.2962A>T
Xg.18628462C>ACA412367359CDKL5c.2588C>A (p.Thr863Lys)
c.2711C>A (p.Thr904Lys)
c.2660C>A (p.Thr887Lys)
c.2579C>A (p.Thr860Lys)
n.2963C>A
Xg.18628462C>GCA412367355CDKL5c.2588C>G (p.Thr863Arg)
c.2711C>G (p.Thr904Arg)
c.2660C>G (p.Thr887Arg)
c.2579C>G (p.Thr860Arg)
n.2963C>G
Xg.18628462C>TCA412367357CDKL5c.2588C>T (p.Thr863Ile)
c.2711C>T (p.Thr904Ile)
c.2660C>T (p.Thr887Ile)
c.2579C>T (p.Thr860Ile)
n.2963C>T

Number of alleles fetched