Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched