| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| X | g.18628435C>A | CA412367219 | CDKL5 | c.2561C>A (p.Ser854Tyr) c.2684C>A (p.Ser895Tyr) c.2633C>A (p.Ser878Tyr) c.2552C>A (p.Ser851Tyr) n.2936C>A | |
| X | g.18628435C>G | CA412367221 | CDKL5 | c.2561C>G (p.Ser854Cys) c.2684C>G (p.Ser895Cys) c.2633C>G (p.Ser878Cys) c.2552C>G (p.Ser851Cys) n.2936C>G | |
| X | g.18628435C>T | CA412367223 | CDKL5 | c.2561C>T (p.Ser854Phe) c.2684C>T (p.Ser895Phe) c.2633C>T (p.Ser878Phe) c.2552C>T (p.Ser851Phe) n.2936C>T | |
| X | g.18628436C>A | CA515470592 | CDKL5 | c.2562C>A (p.Ser854=) c.2685C>A (p.Ser895=) c.2634C>A (p.Ser878=) c.2553C>A (p.Ser851=) n.2937C>A | |
| X | g.18628436C>G | CA515470593 | CDKL5 | c.2562C>G (p.Ser854=) c.2685C>G (p.Ser895=) c.2634C>G (p.Ser878=) c.2553C>G (p.Ser851=) n.2937C>G | |
| X | g.18628436C>T | CA515470594 | CDKL5 | c.2562C>T (p.Ser854=) c.2685C>T (p.Ser895=) c.2634C>T (p.Ser878=) c.2553C>T (p.Ser851=) n.2937C>T | |
| X | g.18628437T>A | CA412367231 | CDKL5 | c.2563T>A (p.Ser855Thr) c.2686T>A (p.Ser896Thr) c.2635T>A (p.Ser879Thr) c.2554T>A (p.Ser852Thr) n.2938T>A | |
| X | g.18628437T>C | CA412367226 | CDKL5 | c.2563T>C (p.Ser855Pro) c.2686T>C (p.Ser896Pro) c.2635T>C (p.Ser879Pro) c.2554T>C (p.Ser852Pro) n.2938T>C | |
| X | g.18628437T>G | CA412367229 | CDKL5 | c.2563T>G (p.Ser855Ala) c.2686T>G (p.Ser896Ala) c.2635T>G (p.Ser879Ala) c.2554T>G (p.Ser852Ala) n.2938T>G | |
| X | g.18628438C>A | CA412367235 | CDKL5 | c.2564C>A (p.Ser855Ter) c.2687C>A (p.Ser896Ter) c.2636C>A (p.Ser879Ter) c.2555C>A (p.Ser852Ter) n.2939C>A | |
| X | g.18628438C>G | CA412367236 | CDKL5 | c.2564C>G (p.Ser855Ter) c.2687C>G (p.Ser896Ter) c.2636C>G (p.Ser879Ter) c.2555C>G (p.Ser852Ter) n.2939C>G | |
| X | g.18628438C>T | CA412367238 | CDKL5 | c.2564C>T (p.Ser855Leu) c.2687C>T (p.Ser896Leu) c.2636C>T (p.Ser879Leu) c.2555C>T (p.Ser852Leu) n.2939C>T | |
| X | g.18628439A>C | CA515470595 | CDKL5 | c.2565A>C (p.Ser855=) c.2688A>C (p.Ser896=) c.2637A>C (p.Ser879=) c.2556A>C (p.Ser852=) n.2940A>C | |
| X | g.18628439A>G | CA515470596 | CDKL5 | c.2565A>G (p.Ser855=) c.2688A>G (p.Ser896=) c.2637A>G (p.Ser879=) c.2556A>G (p.Ser852=) n.2940A>G | gnomAD v4 |
| X | g.18628439A>T | CA515470597 | CDKL5 | c.2565A>T (p.Ser855=) c.2688A>T (p.Ser896=) c.2637A>T (p.Ser879=) c.2556A>T (p.Ser852=) n.2940A>T | |
| X | g.18628440G>A | CA412367241 | CDKL5 | c.2566G>A (p.Asp856Asn) c.2689G>A (p.Asp897Asn) c.2638G>A (p.Asp880Asn) c.2557G>A (p.Asp853Asn) n.2941G>A | |
| X | g.18628440G>C | CA412367243 | CDKL5 | c.2566G>C (p.Asp856His) c.2689G>C (p.Asp897His) c.2638G>C (p.Asp880His) c.2557G>C (p.Asp853His) n.2941G>C | |
| X | g.18628440G>T | CA412367245 | CDKL5 | c.2566G>T (p.Asp856Tyr) c.2689G>T (p.Asp897Tyr) c.2638G>T (p.Asp880Tyr) c.2557G>T (p.Asp853Tyr) n.2941G>T | |
| X | g.18628441A= | CA2417982183 | CDKL5 | c.2567A= (p.Asp856=) c.2690A= (p.Asp897=) c.2639A= (p.Asp880=) c.2558A= (p.Asp853=) n.2942A= | |
| X | g.18628441A>C | CA412367249 | CDKL5 | c.2567A>C (p.Asp856Ala) c.2690A>C (p.Asp897Ala) c.2639A>C (p.Asp880Ala) c.2558A>C (p.Asp853Ala) n.2942A>C | |
| X | g.18628441A>G | CA412367252 | CDKL5 | c.2567A>G (p.Asp856Gly) c.2690A>G (p.Asp897Gly) c.2639A>G (p.Asp880Gly) c.2558A>G (p.Asp853Gly) n.2942A>G | |
| X | g.18628441A>T | CA10360566 | CDKL5 | c.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 |
| X | g.18628442T>A | CA412367255 | CDKL5 | c.2568T>A (p.Asp856Glu) c.2691T>A (p.Asp897Glu) c.2640T>A (p.Asp880Glu) c.2559T>A (p.Asp853Glu) n.2943T>A | |
| X | g.18628442T>C | CA515470598 | CDKL5 | c.2568T>C (p.Asp856=) c.2691T>C (p.Asp897=) c.2640T>C (p.Asp880=) c.2559T>C (p.Asp853=) n.2943T>C | |
| X | g.18628442T>G | CA412367257 | CDKL5 | c.2568T>G (p.Asp856Glu) c.2691T>G (p.Asp897Glu) c.2640T>G (p.Asp880Glu) c.2559T>G (p.Asp853Glu) n.2943T>G | |
| X | g.18628442dup | CA2695231346 | CDKL5 | c.2568dup (p.Pro857SerfsTer?) c.2691dup (p.Pro898SerfsTer?) c.2640dup (p.Pro881SerfsTer?) c.2559dup (p.Pro854SerfsTer?) n.2943dup | |
| X | g.18628442_18628443delinsTC | CA2417982184 | CDKL5 | c.2568_2569delinsTC (p.Asp856=) c.2691_2692delinsTC (p.Asp897=) c.2640_2641delinsTC (p.Asp880=) c.2559_2560delinsTC (p.Asp853=) n.2943_2944delinsTC | |
| X | g.18628443C>A | CA412367259 | CDKL5 | c.2569C>A (p.Pro857Thr) c.2692C>A (p.Pro898Thr) c.2641C>A (p.Pro881Thr) c.2560C>A (p.Pro854Thr) n.2944C>A | gnomAD v4 |
| X | g.18628443C= | CA2417982185 | CDKL5 | c.2569C= (p.Pro857=) c.2692C= (p.Pro898=) c.2641C= (p.Pro881=) c.2560C= (p.Pro854=) n.2944C= | |
| X | g.18628443C>G | CA412367263 | CDKL5 | c.2569C>G (p.Pro857Ala) c.2692C>G (p.Pro898Ala) c.2641C>G (p.Pro881Ala) c.2560C>G (p.Pro854Ala) n.2944C>G | dbSNP |
| X | g.18628443C>T | CA412367265 | CDKL5 | c.2569C>T (p.Pro857Ser) c.2692C>T (p.Pro898Ser) c.2641C>T (p.Pro881Ser) c.2560C>T (p.Pro854Ser) n.2944C>T | gnomAD v4 |
| X | g.18628446del | CA171629 | CDKL5 | c.2572del (p.Arg858AlafsTer5) c.2695del (p.Arg899AlafsTer5) c.2644del (p.Arg882AlafsTer5) c.2563del (p.Arg855AlafsTer5) n.2947del | ClinVar dbSNP |
| X | g.18628444C>A | CA412367267 | CDKL5 | c.2570C>A (p.Pro857His) c.2693C>A (p.Pro898His) c.2642C>A (p.Pro881His) c.2561C>A (p.Pro854His) n.2945C>A | |
| X | g.18628444C= | CA2417982186 | CDKL5 | c.2570C= (p.Pro857=) c.2693C= (p.Pro898=) c.2642C= (p.Pro881=) c.2561C= (p.Pro854=) n.2945C= | |
| X | g.18628444C>G | CA412367269 | CDKL5 | c.2570C>G (p.Pro857Arg) c.2693C>G (p.Pro898Arg) c.2642C>G (p.Pro881Arg) c.2561C>G (p.Pro854Arg) n.2945C>G | ClinVar |
| X | g.18628444C>T | CA412367270 | CDKL5 | c.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 |
| X | g.18628445C>A | CA515470599 | CDKL5 | c.2571C>A (p.Pro857=) c.2694C>A (p.Pro898=) c.2643C>A (p.Pro881=) c.2562C>A (p.Pro854=) n.2946C>A | |
| X | g.18628445C>G | CA515470600 | CDKL5 | c.2571C>G (p.Pro857=) c.2694C>G (p.Pro898=) c.2643C>G (p.Pro881=) c.2562C>G (p.Pro854=) n.2946C>G | |
| X | g.18628445C>T | CA515470601 | CDKL5 | c.2571C>T (p.Pro857=) c.2694C>T (p.Pro898=) c.2643C>T (p.Pro881=) c.2562C>T (p.Pro854=) n.2946C>T | |
| X | g.18628446C>A | CA412367272 | CDKL5 | c.2572C>A (p.Arg858Ser) c.2695C>A (p.Arg899Ser) c.2644C>A (p.Arg882Ser) c.2563C>A (p.Arg855Ser) n.2947C>A | |
| X | g.18628446C= | CA2417982187 | CDKL5 | c.2572C= (p.Arg858=) c.2695C= (p.Arg899=) c.2644C= (p.Arg882=) c.2563C= (p.Arg855=) n.2947C= | |
| X | g.18628446C>G | CA412367274 | CDKL5 | c.2572C>G (p.Arg858Gly) c.2695C>G (p.Arg899Gly) c.2644C>G (p.Arg882Gly) c.2563C>G (p.Arg855Gly) n.2947C>G | gnomAD v4 |
| X | g.18628446C>T | CA10360567 | CDKL5 | c.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 |
| X | g.18628447G>A | CA10360568 | CDKL5 | c.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 |
| X | g.18628447G>C | CA412367279 | CDKL5 | c.2573G>C (p.Arg858Pro) c.2696G>C (p.Arg899Pro) c.2645G>C (p.Arg882Pro) c.2564G>C (p.Arg855Pro) n.2948G>C | |
| X | g.18628447G= | CA2417982188 | CDKL5 | c.2573G= (p.Arg858=) c.2696G= (p.Arg899=) c.2645G= (p.Arg882=) c.2564G= (p.Arg855=) n.2948G= | |
| X | g.18628447G>T | CA412367281 | CDKL5 | c.2573G>T (p.Arg858Leu) c.2696G>T (p.Arg899Leu) c.2645G>T (p.Arg882Leu) c.2564G>T (p.Arg855Leu) n.2948G>T | |
| X | g.18628448C>A | CA515470602 | CDKL5 | c.2574C>A (p.Arg858=) c.2697C>A (p.Arg899=) c.2646C>A (p.Arg882=) c.2565C>A (p.Arg855=) n.2949C>A | |
| X | g.18628448C>G | CA515470604 | CDKL5 | c.2574C>G (p.Arg858=) c.2697C>G (p.Arg899=) c.2646C>G (p.Arg882=) c.2565C>G (p.Arg855=) n.2949C>G | |
| X | g.18628448C>T | CA515470603 | CDKL5 | c.2574C>T (p.Arg858=) c.2697C>T (p.Arg899=) c.2646C>T (p.Arg882=) c.2565C>T (p.Arg855=) n.2949C>T | COSMIC |
| X | g.18628449T>A | CA412367284 | CDKL5 | c.2575T>A (p.Phe859Ile) c.2698T>A (p.Phe900Ile) c.2647T>A (p.Phe883Ile) c.2566T>A (p.Phe856Ile) n.2950T>A | |
| X | g.18628449T>C | CA412367286 | CDKL5 | c.2575T>C (p.Phe859Leu) c.2698T>C (p.Phe900Leu) c.2647T>C (p.Phe883Leu) c.2566T>C (p.Phe856Leu) n.2950T>C | |
| X | g.18628449T>G | CA412367289 | CDKL5 | c.2575T>G (p.Phe859Val) c.2698T>G (p.Phe900Val) c.2647T>G (p.Phe883Val) c.2566T>G (p.Phe856Val) n.2950T>G | |
| X | g.18628450T>A | CA412367292 | CDKL5 | c.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 |
| X | g.18628450T>C | CA412367296 | CDKL5 | c.2576T>C (p.Phe859Ser) c.2699T>C (p.Phe900Ser) c.2648T>C (p.Phe883Ser) c.2567T>C (p.Phe856Ser) n.2951T>C | |
| X | g.18628450T>G | CA412367294 | CDKL5 | c.2576T>G (p.Phe859Cys) c.2699T>G (p.Phe900Cys) c.2648T>G (p.Phe883Cys) c.2567T>G (p.Phe856Cys) n.2951T>G | gnomAD v4 |
| X | g.18628450T= | CA2417982189 | CDKL5 | c.2576T= (p.Phe859=) c.2699T= (p.Phe900=) c.2648T= (p.Phe883=) c.2567T= (p.Phe856=) n.2951T= | |
| X | g.18628451C>A | CA412367298 | CDKL5 | c.2577C>A (p.Phe859Leu) c.2700C>A (p.Phe900Leu) c.2649C>A (p.Phe883Leu) c.2568C>A (p.Phe856Leu) n.2952C>A | |
| X | g.18628451C>G | CA412367301 | CDKL5 | c.2577C>G (p.Phe859Leu) c.2700C>G (p.Phe900Leu) c.2649C>G (p.Phe883Leu) c.2568C>G (p.Phe856Leu) n.2952C>G | |
| X | g.18628451C>T | CA515470605 | CDKL5 | c.2577C>T (p.Phe859=) c.2700C>T (p.Phe900=) c.2649C>T (p.Phe883=) c.2568C>T (p.Phe856=) n.2952C>T | |
| X | g.18628453_18628456dup | CA2499226526 | CDKL5 | c.2579_2582dup (p.Leu862AlafsTer?) c.2702_2705dup (p.Leu903AlafsTer?) c.2651_2654dup (p.Leu886AlafsTer?) c.2570_2573dup (p.Leu859AlafsTer?) n.2954_2957dup | ClinVar dbSNP |
| X | g.18628452C>A | CA412367303 | CDKL5 | c.2578C>A (p.Gln860Lys) c.2701C>A (p.Gln901Lys) c.2650C>A (p.Gln884Lys) c.2569C>A (p.Gln857Lys) n.2953C>A | |
| X | g.18628452C= | CA2417982190 | CDKL5 | c.2578C= (p.Gln860=) c.2701C= (p.Gln901=) c.2650C= (p.Gln884=) c.2569C= (p.Gln857=) n.2953C= | |
| X | g.18628452C>G | CA412367305 | CDKL5 | c.2578C>G (p.Gln860Glu) c.2701C>G (p.Gln901Glu) c.2650C>G (p.Gln884Glu) c.2569C>G (p.Gln857Glu) n.2953C>G | |
| X | g.18628452C>T | CA412367307 | CDKL5 | c.2578C>T (p.Gln860Ter) c.2701C>T (p.Gln901Ter) c.2650C>T (p.Gln884Ter) c.2569C>T (p.Gln857Ter) n.2953C>T | ClinVar dbSNP |
| X | g.18628453A>C | CA412367308 | CDKL5 | c.2579A>C (p.Gln860Pro) c.2702A>C (p.Gln901Pro) c.2651A>C (p.Gln884Pro) c.2570A>C (p.Gln857Pro) n.2954A>C | |
| X | g.18628453A>G | CA412367310 | CDKL5 | c.2579A>G (p.Gln860Arg) c.2702A>G (p.Gln901Arg) c.2651A>G (p.Gln884Arg) c.2570A>G (p.Gln857Arg) n.2954A>G | |
| X | g.18628453A>T | CA412367312 | CDKL5 | c.2579A>T (p.Gln860Leu) c.2702A>T (p.Gln901Leu) c.2651A>T (p.Gln884Leu) c.2570A>T (p.Gln857Leu) n.2954A>T | |
| X | g.18628454G>A | CA515470606 | CDKL5 | c.2580G>A (p.Gln860=) c.2703G>A (p.Gln901=) c.2652G>A (p.Gln884=) c.2571G>A (p.Gln857=) n.2955G>A | |
| X | g.18628454G>C | CA412367314 | CDKL5 | c.2580G>C (p.Gln860His) c.2703G>C (p.Gln901His) c.2652G>C (p.Gln884His) c.2571G>C (p.Gln857His) n.2955G>C | |
| X | g.18628454G>T | CA412367316 | CDKL5 | c.2580G>T (p.Gln860His) c.2703G>T (p.Gln901His) c.2652G>T (p.Gln884His) c.2571G>T (p.Gln857His) n.2955G>T | |
| X | g.18628455C>A | CA412367323 | CDKL5 | c.2581C>A (p.Pro861Thr) c.2704C>A (p.Pro902Thr) c.2653C>A (p.Pro885Thr) c.2572C>A (p.Pro858Thr) n.2956C>A | |
| X | g.18628455C= | CA2417982191 | CDKL5 | c.2581C= (p.Pro861=) c.2704C= (p.Pro902=) c.2653C= (p.Pro885=) c.2572C= (p.Pro858=) n.2956C= | |
| X | g.18628455C>G | CA412367321 | CDKL5 | c.2581C>G (p.Pro861Ala) c.2704C>G (p.Pro902Ala) c.2653C>G (p.Pro885Ala) c.2572C>G (p.Pro858Ala) n.2956C>G | |
| X | g.18628455C>T | CA412367319 | CDKL5 | c.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 |
| X | g.18628456C>A | CA412367325 | CDKL5 | c.2582C>A (p.Pro861His) c.2705C>A (p.Pro902His) c.2654C>A (p.Pro885His) c.2573C>A (p.Pro858His) n.2957C>A | |
| X | g.18628456C>G | CA412367327 | CDKL5 | c.2582C>G (p.Pro861Arg) c.2705C>G (p.Pro902Arg) c.2654C>G (p.Pro885Arg) c.2573C>G (p.Pro858Arg) n.2957C>G | |
| X | g.18628456C>T | CA412367328 | CDKL5 | c.2582C>T (p.Pro861Leu) c.2705C>T (p.Pro902Leu) c.2654C>T (p.Pro885Leu) c.2573C>T (p.Pro858Leu) n.2957C>T | gnomAD v4 |
| X | g.18628457C>A | CA515470607 | CDKL5 | c.2583C>A (p.Pro861=) c.2706C>A (p.Pro902=) c.2655C>A (p.Pro885=) c.2574C>A (p.Pro858=) n.2958C>A | |
| X | g.18628457C>G | CA515470608 | CDKL5 | c.2583C>G (p.Pro861=) c.2706C>G (p.Pro902=) c.2655C>G (p.Pro885=) c.2574C>G (p.Pro858=) n.2958C>G | gnomAD v4 |
| X | g.18628457C>T | CA515470609 | CDKL5 | c.2583C>T (p.Pro861=) c.2706C>T (p.Pro902=) c.2655C>T (p.Pro885=) c.2574C>T (p.Pro858=) n.2958C>T | COSMIC |
| X | g.18628458T>A | CA412367331 | CDKL5 | c.2584T>A (p.Leu862Ile) c.2707T>A (p.Leu903Ile) c.2656T>A (p.Leu886Ile) c.2575T>A (p.Leu859Ile) n.2959T>A | |
| X | g.18628458T>C | CA515470611 | CDKL5 | c.2584T>C (p.Leu862=) c.2707T>C (p.Leu903=) c.2656T>C (p.Leu886=) c.2575T>C (p.Leu859=) n.2959T>C | |
| X | g.18628458T>G | CA412367333 | CDKL5 | c.2584T>G (p.Leu862Val) c.2707T>G (p.Leu903Val) c.2656T>G (p.Leu886Val) c.2575T>G (p.Leu859Val) n.2959T>G | |
| X | g.18628459T>A | CA412367336 | CDKL5 | c.2585T>A (p.Leu862Ter) c.2708T>A (p.Leu903Ter) c.2657T>A (p.Leu886Ter) c.2576T>A (p.Leu859Ter) n.2960T>A | |
| X | g.18628459T>C | CA412367338 | CDKL5 | c.2585T>C (p.Leu862Ser) c.2708T>C (p.Leu903Ser) c.2657T>C (p.Leu886Ser) c.2576T>C (p.Leu859Ser) n.2960T>C | |
| X | g.18628459T>G | CA412367340 | CDKL5 | c.2585T>G (p.Leu862Ter) c.2708T>G (p.Leu903Ter) c.2657T>G (p.Leu886Ter) c.2576T>G (p.Leu859Ter) n.2960T>G | |
| X | g.18628460A>C | CA412367343 | CDKL5 | c.2586A>C (p.Leu862Phe) c.2709A>C (p.Leu903Phe) c.2658A>C (p.Leu886Phe) c.2577A>C (p.Leu859Phe) n.2961A>C | |
| X | g.18628460A>G | CA515470612 | CDKL5 | c.2586A>G (p.Leu862=) c.2709A>G (p.Leu903=) c.2658A>G (p.Leu886=) c.2577A>G (p.Leu859=) n.2961A>G | gnomAD v4 |
| X | g.18628460A>T | CA412367345 | CDKL5 | c.2586A>T (p.Leu862Phe) c.2709A>T (p.Leu903Phe) c.2658A>T (p.Leu886Phe) c.2577A>T (p.Leu859Phe) n.2961A>T | |
| X | g.18628461A= | CA2417982192 | CDKL5 | c.2587A= (p.Thr863=) c.2710A= (p.Thr904=) c.2659A= (p.Thr887=) c.2578A= (p.Thr860=) n.2962A= | |
| X | g.18628461A>C | CA412367348 | CDKL5 | c.2587A>C (p.Thr863Pro) c.2710A>C (p.Thr904Pro) c.2659A>C (p.Thr887Pro) c.2578A>C (p.Thr860Pro) n.2962A>C | |
| X | g.18628461A>G | CA10360569 | CDKL5 | c.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 |
| X | g.18628461A>T | CA412367352 | CDKL5 | c.2587A>T (p.Thr863Ser) c.2710A>T (p.Thr904Ser) c.2659A>T (p.Thr887Ser) c.2578A>T (p.Thr860Ser) n.2962A>T | |
| X | g.18628462C>A | CA412367359 | CDKL5 | c.2588C>A (p.Thr863Lys) c.2711C>A (p.Thr904Lys) c.2660C>A (p.Thr887Lys) c.2579C>A (p.Thr860Lys) n.2963C>A | |
| X | g.18628462C>G | CA412367355 | CDKL5 | c.2588C>G (p.Thr863Arg) c.2711C>G (p.Thr904Arg) c.2660C>G (p.Thr887Arg) c.2579C>G (p.Thr860Arg) n.2963C>G | |
| X | g.18628462C>T | CA412367357 | CDKL5 | c.2588C>T (p.Thr863Ile) c.2711C>T (p.Thr904Ile) c.2660C>T (p.Thr887Ile) c.2579C>T (p.Thr860Ile) n.2963C>T | |
| X | g.18628463A>C | CA515470615 | CDKL5 | c.2589A>C (p.Thr863=) c.2712A>C (p.Thr904=) c.2661A>C (p.Thr887=) c.2580A>C (p.Thr860=) n.2964A>C | |
| X | g.18628463A>G | CA515470616 | CDKL5 | c.2589A>G (p.Thr863=) c.2712A>G (p.Thr904=) c.2661A>G (p.Thr887=) c.2580A>G (p.Thr860=) n.2964A>G | |
| X | g.18628463A>T | CA515470614 | CDKL5 | c.2589A>T (p.Thr863=) c.2712A>T (p.Thr904=) c.2661A>T (p.Thr887=) c.2580A>T (p.Thr860=) n.2964A>T | |
| X | g.18628464G>A | CA412367363 | CDKL5 | c.2590G>A (p.Ala864Thr) c.2713G>A (p.Ala905Thr) c.2662G>A (p.Ala888Thr) c.2581G>A (p.Ala861Thr) n.2965G>A | |
| X | g.18628464G>C | CA412367365 | CDKL5 | c.2590G>C (p.Ala864Pro) c.2713G>C (p.Ala905Pro) c.2662G>C (p.Ala888Pro) c.2581G>C (p.Ala861Pro) n.2965G>C | |
| X | g.18628464G>T | CA412367367 | CDKL5 | c.2590G>T (p.Ala864Ser) c.2713G>T (p.Ala905Ser) c.2662G>T (p.Ala888Ser) c.2581G>T (p.Ala861Ser) n.2965G>T | |
| X | g.18628465C>A | CA412367371 | CDKL5 | c.2591C>A (p.Ala864Asp) c.2714C>A (p.Ala905Asp) c.2663C>A (p.Ala888Asp) c.2582C>A (p.Ala861Asp) n.2966C>A | |
| X | g.18628465C>G | CA412367373 | CDKL5 | c.2591C>G (p.Ala864Gly) c.2714C>G (p.Ala905Gly) c.2663C>G (p.Ala888Gly) c.2582C>G (p.Ala861Gly) n.2966C>G | |
| X | g.18628465C>T | CA412367375 | CDKL5 | c.2591C>T (p.Ala864Val) c.2714C>T (p.Ala905Val) c.2663C>T (p.Ala888Val) c.2582C>T (p.Ala861Val) n.2966C>T | |
| X | g.18628466T>A | CA515470621 | CDKL5 | c.2592T>A (p.Ala864=) c.2715T>A (p.Ala905=) c.2664T>A (p.Ala888=) c.2583T>A (p.Ala861=) n.2967T>A | |
| X | g.18628466T>C | CA515470622 | CDKL5 | c.2592T>C (p.Ala864=) c.2715T>C (p.Ala905=) c.2664T>C (p.Ala888=) c.2583T>C (p.Ala861=) n.2967T>C | |
| X | g.18628466T>G | CA515470624 | CDKL5 | c.2592T>G (p.Ala864=) c.2715T>G (p.Ala905=) c.2664T>G (p.Ala888=) c.2583T>G (p.Ala861=) n.2967T>G | |
| X | g.18628466_18628490delinsTCAACAAACCAAAAATTCCTTCTCA | CA2417982193 | CDKL5 | c.2592_2616delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala864=) c.2715_2739delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala905=) c.2664_2688delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala888=) c.2583_2607delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala861=) n.2967_2991delinsTCAACAAACCAAAAATTCCTTCTCA | |
| X | g.18628467C>A | CA412367377 | CDKL5 | c.2593C>A (p.Gln865Lys) c.2716C>A (p.Gln906Lys) c.2665C>A (p.Gln889Lys) c.2584C>A (p.Gln862Lys) n.2968C>A | |
| X | g.18628467C= | CA2417982194 | CDKL5 | c.2593C= (p.Gln865=) c.2716C= (p.Gln906=) c.2665C= (p.Gln889=) c.2584C= (p.Gln862=) n.2968C= | |
| X | g.18628467C>G | CA412367380 | CDKL5 | c.2593C>G (p.Gln865Glu) c.2716C>G (p.Gln906Glu) c.2665C>G (p.Gln889Glu) c.2584C>G (p.Gln862Glu) n.2968C>G | |
| X | g.18628467C>T | CA171630 | CDKL5 | c.2593C>T (p.Gln865Ter) c.2716C>T (p.Gln906Ter) c.2665C>T (p.Gln889Ter) c.2584C>T (p.Gln862Ter) n.2968C>T | ClinVar dbSNP |
| X | g.18628467_18628490delinsG | CA658658933 | CDKL5 | c.2593_2616delinsG (p.Gln865GlyfsTer?) c.2716_2739delinsG (p.Gln906GlyfsTer?) c.2665_2688delinsG (p.Gln889GlyfsTer?) c.2584_2607delinsG (p.Gln862GlyfsTer?) n.2968_2991delinsG | ClinVar dbSNP |
| X | g.18628468A>C | CA412367384 | CDKL5 | c.2594A>C (p.Gln865Pro) c.2717A>C (p.Gln906Pro) c.2666A>C (p.Gln889Pro) c.2585A>C (p.Gln862Pro) n.2969A>C | |
| X | g.18628468A>G | CA412367386 | CDKL5 | c.2594A>G (p.Gln865Arg) c.2717A>G (p.Gln906Arg) c.2666A>G (p.Gln889Arg) c.2585A>G (p.Gln862Arg) n.2969A>G | |
| X | g.18628468A>T | CA412367388 | CDKL5 | c.2594A>T (p.Gln865Leu) c.2717A>T (p.Gln906Leu) c.2666A>T (p.Gln889Leu) c.2585A>T (p.Gln862Leu) n.2969A>T | |
| X | g.18628469A>C | CA412367393 | CDKL5 | c.2595A>C (p.Gln865His) c.2718A>C (p.Gln906His) c.2667A>C (p.Gln889His) c.2586A>C (p.Gln862His) n.2970A>C | |
| X | g.18628469A>G | CA515470633 | CDKL5 | c.2595A>G (p.Gln865=) c.2718A>G (p.Gln906=) c.2667A>G (p.Gln889=) c.2586A>G (p.Gln862=) n.2970A>G | gnomAD v4 COSMIC |
| X | g.18628469A>T | CA412367391 | CDKL5 | c.2595A>T (p.Gln865His) c.2718A>T (p.Gln906His) c.2667A>T (p.Gln889His) c.2586A>T (p.Gln862His) n.2970A>T | |
| X | g.18628470C>A | CA412367396 | CDKL5 | c.2596C>A (p.Gln866Lys) c.2719C>A (p.Gln907Lys) c.2668C>A (p.Gln890Lys) c.2587C>A (p.Gln863Lys) n.2971C>A | |
| X | g.18628470C= | CA2417982195 | CDKL5 | c.2596C= (p.Gln866=) c.2719C= (p.Gln907=) c.2668C= (p.Gln890=) c.2587C= (p.Gln863=) n.2971C= | |
| X | g.18628470C>G | CA412367398 | CDKL5 | c.2596C>G (p.Gln866Glu) c.2719C>G (p.Gln907Glu) c.2668C>G (p.Gln890Glu) c.2587C>G (p.Gln863Glu) n.2971C>G | ClinVar |
| X | g.18628470C>T | CA171632 | CDKL5 | c.2596C>T (p.Gln866Ter) c.2719C>T (p.Gln907Ter) c.2668C>T (p.Gln890Ter) c.2587C>T (p.Gln863Ter) n.2971C>T | ClinVar dbSNP |
| X | g.18628470dup | CA2819912962 | CDKL5 | c.2596dup (p.Gln866ProfsTer?) c.2719dup (p.Gln907ProfsTer?) c.2668dup (p.Gln890ProfsTer?) c.2587dup (p.Gln863ProfsTer?) n.2971dup | |
| X | g.18628471A>C | CA412367403 | CDKL5 | c.2597A>C (p.Gln866Pro) c.2720A>C (p.Gln907Pro) c.2669A>C (p.Gln890Pro) c.2588A>C (p.Gln863Pro) n.2972A>C | |
| X | g.18628471A>G | CA412367404 | CDKL5 | c.2597A>G (p.Gln866Arg) c.2720A>G (p.Gln907Arg) c.2669A>G (p.Gln890Arg) c.2588A>G (p.Gln863Arg) n.2972A>G | |
| X | g.18628471A>T | CA412367407 | CDKL5 | c.2597A>T (p.Gln866Leu) c.2720A>T (p.Gln907Leu) c.2669A>T (p.Gln890Leu) c.2588A>T (p.Gln863Leu) n.2972A>T | |
| X | g.18628472A>C | CA412367412 | CDKL5 | c.2598A>C (p.Gln866His) c.2721A>C (p.Gln907His) c.2670A>C (p.Gln890His) c.2589A>C (p.Gln863His) n.2973A>C | |
| X | g.18628472A>G | CA515470640 | CDKL5 | c.2598A>G (p.Gln866=) c.2721A>G (p.Gln907=) c.2670A>G (p.Gln890=) c.2589A>G (p.Gln863=) n.2973A>G | gnomAD v4 |
| X | g.18628472A>T | CA412367409 | CDKL5 | c.2598A>T (p.Gln866His) c.2721A>T (p.Gln907His) c.2670A>T (p.Gln890His) c.2589A>T (p.Gln863His) n.2973A>T | |
| X | g.18628473A>C | CA412367415 | CDKL5 | c.2599A>C (p.Thr867Pro) c.2722A>C (p.Thr908Pro) c.2671A>C (p.Thr891Pro) c.2590A>C (p.Thr864Pro) n.2974A>C | |
| X | g.18628473A>G | CA412367417 | CDKL5 | c.2599A>G (p.Thr867Ala) c.2722A>G (p.Thr908Ala) c.2671A>G (p.Thr891Ala) c.2590A>G (p.Thr864Ala) n.2974A>G | |
| X | g.18628473A>T | CA412367420 | CDKL5 | c.2599A>T (p.Thr867Ser) c.2722A>T (p.Thr908Ser) c.2671A>T (p.Thr891Ser) c.2590A>T (p.Thr864Ser) n.2974A>T | |
| X | g.18628474C>A | CA412367422 | CDKL5 | c.2600C>A (p.Thr867Asn) c.2723C>A (p.Thr908Asn) c.2672C>A (p.Thr891Asn) c.2591C>A (p.Thr864Asn) n.2975C>A | |
| X | g.18628474C>G | CA412367425 | CDKL5 | c.2600C>G (p.Thr867Ser) c.2723C>G (p.Thr908Ser) c.2672C>G (p.Thr891Ser) c.2591C>G (p.Thr864Ser) n.2975C>G | |
| X | g.18628474C>T | CA412367427 | CDKL5 | c.2600C>T (p.Thr867Ile) c.2723C>T (p.Thr908Ile) c.2672C>T (p.Thr891Ile) c.2591C>T (p.Thr864Ile) n.2975C>T | |
| X | g.18628475C>A | CA515470646 | CDKL5 | c.2601C>A (p.Thr867=) c.2724C>A (p.Thr908=) c.2673C>A (p.Thr891=) c.2592C>A (p.Thr864=) n.2976C>A | |
| X | g.18628475C>G | CA515470647 | CDKL5 | c.2601C>G (p.Thr867=) c.2724C>G (p.Thr908=) c.2673C>G (p.Thr891=) c.2592C>G (p.Thr864=) n.2976C>G | |
| X | g.18628475C>T | CA515470649 | CDKL5 | c.2601C>T (p.Thr867=) c.2724C>T (p.Thr908=) c.2673C>T (p.Thr891=) c.2592C>T (p.Thr864=) n.2976C>T | |
| X | g.18628476A>C | CA412367434 | CDKL5 | c.2602A>C (p.Lys868Gln) c.2725A>C (p.Lys909Gln) c.2674A>C (p.Lys892Gln) c.2593A>C (p.Lys865Gln) n.2977A>C | |
| X | g.18628476A>G | CA412367430 | CDKL5 | c.2602A>G (p.Lys868Glu) c.2725A>G (p.Lys909Glu) c.2674A>G (p.Lys892Glu) c.2593A>G (p.Lys865Glu) n.2977A>G | |
| X | g.18628476A>T | CA412367432 | CDKL5 | c.2602A>T (p.Lys868Ter) c.2725A>T (p.Lys909Ter) c.2674A>T (p.Lys892Ter) c.2593A>T (p.Lys865Ter) n.2977A>T | |
| X | g.18628480del | CA2499226527 | CDKL5 | c.2606del (p.Asn869IlefsTer11) c.2729del (p.Asn910IlefsTer11) c.2678del (p.Asn893IlefsTer11) c.2597del (p.Asn866IlefsTer11) n.2981del | ClinVar dbSNP |
| X | g.18628477A>C | CA412367438 | CDKL5 | c.2603A>C (p.Lys868Thr) c.2726A>C (p.Lys909Thr) c.2675A>C (p.Lys892Thr) c.2594A>C (p.Lys865Thr) n.2978A>C | |
| X | g.18628477A>G | CA412367440 | CDKL5 | c.2603A>G (p.Lys868Arg) c.2726A>G (p.Lys909Arg) c.2675A>G (p.Lys892Arg) c.2594A>G (p.Lys865Arg) n.2978A>G | |
| X | g.18628477A>T | CA412367441 | CDKL5 | c.2603A>T (p.Lys868Ile) c.2726A>T (p.Lys909Ile) c.2675A>T (p.Lys892Ile) c.2594A>T (p.Lys865Ile) n.2978A>T | |
| X | g.18628477_18628478insCCAAACACACCCAACAC | CA2819912963 | CDKL5 | c.2603_2604insCCAAACACACCCAACAC (p.Lys868AsnfsTer18) c.2726_2727insCCAAACACACCCAACAC (p.Lys909AsnfsTer18) c.2675_2676insCCAAACACACCCAACAC (p.Lys892AsnfsTer18) c.2594_2595insCCAAACACACCCAACAC (p.Lys865AsnfsTer18) n.2978_2979insCCAAACACACCCAACAC | |
| X | g.18628478A>C | CA412367443 | CDKL5 | c.2604A>C (p.Lys868Asn) c.2727A>C (p.Lys909Asn) c.2676A>C (p.Lys892Asn) c.2595A>C (p.Lys865Asn) n.2979A>C | |
| X | g.18628478A>G | CA515470655 | CDKL5 | c.2604A>G (p.Lys868=) c.2727A>G (p.Lys909=) c.2676A>G (p.Lys892=) c.2595A>G (p.Lys865=) n.2979A>G | |
| X | g.18628478A>T | CA412367445 | CDKL5 | c.2604A>T (p.Lys868Asn) c.2727A>T (p.Lys909Asn) c.2676A>T (p.Lys892Asn) c.2595A>T (p.Lys865Asn) n.2979A>T | |
| X | g.18628478_18628479insCACACCCAACAC | CA2819912964 | CDKL5 | c.2604_2605insCACACCCAACAC (p.Lys868_Asn869insHisThrGlnHis) c.2727_2728insCACACCCAACAC (p.Lys909_Asn910insHisThrGlnHis) c.2676_2677insCACACCCAACAC (p.Lys892_Asn893insHisThrGlnHis) c.2595_2596insCACACCCAACAC (p.Lys865_Asn866insHisThrGlnHis) n.2979_2980insCACACCCAACAC | |
| X | g.18628479A>C | CA412367448 | CDKL5 | c.2605A>C (p.Asn869His) c.2728A>C (p.Asn910His) c.2677A>C (p.Asn893His) c.2596A>C (p.Asn866His) n.2980A>C | |
| X | g.18628479A>G | CA412367450 | CDKL5 | c.2605A>G (p.Asn869Asp) c.2728A>G (p.Asn910Asp) c.2677A>G (p.Asn893Asp) c.2596A>G (p.Asn866Asp) n.2980A>G | |
| X | g.18628479A>T | CA412367452 | CDKL5 | c.2605A>T (p.Asn869Tyr) c.2728A>T (p.Asn910Tyr) c.2677A>T (p.Asn893Tyr) c.2596A>T (p.Asn866Tyr) n.2980A>T | |
| X | g.18628479_18628480insCCAAACACACCCAACAC | CA2819912965 | CDKL5 | c.2605_2606insCCAAACACACCCAACAC (p.Asn869ThrfsTer17) c.2728_2729insCCAAACACACCCAACAC (p.Asn910ThrfsTer17) c.2677_2678insCCAAACACACCCAACAC (p.Asn893ThrfsTer17) c.2596_2597insCCAAACACACCCAACAC (p.Asn866ThrfsTer17) n.2980_2981insCCAAACACACCCAACAC | |
| X | g.18628480A= | CA2417982196 | CDKL5 | c.2606A= (p.Asn869=) c.2729A= (p.Asn910=) c.2678A= (p.Asn893=) c.2597A= (p.Asn866=) n.2981A= | |
| X | g.18628480A>C | CA412367455 | CDKL5 | c.2606A>C (p.Asn869Thr) c.2729A>C (p.Asn910Thr) c.2678A>C (p.Asn893Thr) c.2597A>C (p.Asn866Thr) n.2981A>C | |
| X | g.18628480A>G | CA412367457 | CDKL5 | c.2606A>G (p.Asn869Ser) c.2729A>G (p.Asn910Ser) c.2678A>G (p.Asn893Ser) c.2597A>G (p.Asn866Ser) n.2981A>G | |
| X | g.18628480A>T | CA412367459 | CDKL5 | c.2606A>T (p.Asn869Ile) c.2729A>T (p.Asn910Ile) c.2678A>T (p.Asn893Ile) c.2597A>T (p.Asn866Ile) n.2981A>T | |
| X | g.18628481T>A | CA412367462 | CDKL5 | c.2607T>A (p.Asn869Lys) c.2730T>A (p.Asn910Lys) c.2679T>A (p.Asn893Lys) c.2598T>A (p.Asn866Lys) n.2982T>A | |
| X | g.18628481T>C | CA515470663 | CDKL5 | c.2607T>C (p.Asn869=) c.2730T>C (p.Asn910=) c.2679T>C (p.Asn893=) c.2598T>C (p.Asn866=) n.2982T>C | |
| X | g.18628481T>G | CA412367464 | CDKL5 | c.2607T>G (p.Asn869Lys) c.2730T>G (p.Asn910Lys) c.2679T>G (p.Asn893Lys) c.2598T>G (p.Asn866Lys) n.2982T>G | |
| X | g.18628482dup | CA294692 | CDKL5 | c.2608dup (p.Ser870PhefsTer?) c.2731dup (p.Ser911PhefsTer?) c.2680dup (p.Ser894PhefsTer?) c.2599dup (p.Ser867PhefsTer?) n.2983dup | ClinVar dbSNP |
| X | g.18628482T>A | CA412367471 | CDKL5 | c.2608T>A (p.Ser870Thr) c.2731T>A (p.Ser911Thr) c.2680T>A (p.Ser894Thr) c.2599T>A (p.Ser867Thr) n.2983T>A | |
| X | g.18628482T>C | CA412367467 | CDKL5 | c.2608T>C (p.Ser870Pro) c.2731T>C (p.Ser911Pro) c.2680T>C (p.Ser894Pro) c.2599T>C (p.Ser867Pro) n.2983T>C | |
| X | g.18628482T>G | CA412367469 | CDKL5 | c.2608T>G (p.Ser870Ala) c.2731T>G (p.Ser911Ala) c.2680T>G (p.Ser894Ala) c.2599T>G (p.Ser867Ala) n.2983T>G | |
| X | g.18628483C>A | CA412367475 | CDKL5 | c.2609C>A (p.Ser870Tyr) c.2732C>A (p.Ser911Tyr) c.2681C>A (p.Ser894Tyr) c.2600C>A (p.Ser867Tyr) n.2984C>A | gnomAD v4 |
| X | g.18628483C>G | CA412367477 | CDKL5 | c.2609C>G (p.Ser870Cys) c.2732C>G (p.Ser911Cys) c.2681C>G (p.Ser894Cys) c.2600C>G (p.Ser867Cys) n.2984C>G | |
| X | g.18628483C>T | CA412367479 | CDKL5 | c.2609C>T (p.Ser870Phe) c.2732C>T (p.Ser911Phe) c.2681C>T (p.Ser894Phe) c.2600C>T (p.Ser867Phe) n.2984C>T | gnomAD v4 |
| X | g.18628484C>A | CA515470671 | CDKL5 | c.2610C>A (p.Ser870=) c.2733C>A (p.Ser911=) c.2682C>A (p.Ser894=) c.2601C>A (p.Ser867=) n.2985C>A | |
| X | g.18628484C>G | CA515470668 | CDKL5 | c.2610C>G (p.Ser870=) c.2733C>G (p.Ser911=) c.2682C>G (p.Ser894=) c.2601C>G (p.Ser867=) n.2985C>G | |
| X | g.18628484C>T | CA515470667 | CDKL5 | c.2610C>T (p.Ser870=) c.2733C>T (p.Ser911=) c.2682C>T (p.Ser894=) c.2601C>T (p.Ser867=) n.2985C>T | |
| X | g.18628485T>A | CA412367481 | CDKL5 | c.2611T>A (p.Phe871Ile) c.2734T>A (p.Phe912Ile) c.2683T>A (p.Phe895Ile) c.2602T>A (p.Phe868Ile) n.2986T>A | |
| X | g.18628485T>C | CA412367483 | CDKL5 | c.2611T>C (p.Phe871Leu) c.2734T>C (p.Phe912Leu) c.2683T>C (p.Phe895Leu) c.2602T>C (p.Phe868Leu) n.2986T>C | |
| X | g.18628485T>G | CA412367485 | CDKL5 | c.2611T>G (p.Phe871Val) c.2734T>G (p.Phe912Val) c.2683T>G (p.Phe895Val) c.2602T>G (p.Phe868Val) n.2986T>G | ClinVar dbSNP |
| X | g.18628486T>A | CA412367493 | CDKL5 | c.2612T>A (p.Phe871Tyr) c.2735T>A (p.Phe912Tyr) c.2684T>A (p.Phe895Tyr) c.2603T>A (p.Phe868Tyr) n.2987T>A | |
| X | g.18628486T>C | CA412367488 | CDKL5 | c.2612T>C (p.Phe871Ser) c.2735T>C (p.Phe912Ser) c.2684T>C (p.Phe895Ser) c.2603T>C (p.Phe868Ser) n.2987T>C | |
| X | g.18628486T>G | CA412367490 | CDKL5 | c.2612T>G (p.Phe871Cys) c.2735T>G (p.Phe912Cys) c.2684T>G (p.Phe895Cys) c.2603T>G (p.Phe868Cys) n.2987T>G | |
| X | g.18628487C>A | CA412367494 | CDKL5 | c.2613C>A (p.Phe871Leu) c.2736C>A (p.Phe912Leu) c.2685C>A (p.Phe895Leu) c.2604C>A (p.Phe868Leu) n.2988C>A | |
| X | g.18628487C= | CA2417982197 | CDKL5 | c.2613C= (p.Phe871=) c.2736C= (p.Phe912=) c.2685C= (p.Phe895=) c.2604C= (p.Phe868=) n.2988C= | |
| X | g.18628487C>G | CA412367496 | CDKL5 | c.2613C>G (p.Phe871Leu) c.2736C>G (p.Phe912Leu) c.2685C>G (p.Phe895Leu) c.2604C>G (p.Phe868Leu) n.2988C>G | |
| X | g.18628487C>T | CA515470676 | CDKL5 | c.2613C>T (p.Phe871=) c.2736C>T (p.Phe912=) c.2685C>T (p.Phe895=) c.2604C>T (p.Phe868=) n.2988C>T | dbSNP gnomAD v4 |
| X | g.18628488T>A | CA412367499 | CDKL5 | c.2614T>A (p.Ser872Thr) c.2737T>A (p.Ser913Thr) c.2686T>A (p.Ser896Thr) c.2605T>A (p.Ser869Thr) n.2989T>A | |
| X | g.18628488T>C | CA412367501 | CDKL5 | c.2614T>C (p.Ser872Pro) c.2737T>C (p.Ser913Pro) c.2686T>C (p.Ser896Pro) c.2605T>C (p.Ser869Pro) n.2989T>C | |
| X | g.18628488T>G | CA412367503 | CDKL5 | c.2614T>G (p.Ser872Ala) c.2737T>G (p.Ser913Ala) c.2686T>G (p.Ser896Ala) c.2605T>G (p.Ser869Ala) n.2989T>G | |
| X | g.18628489C>A | CA412367506 | CDKL5 | c.2615C>A (p.Ser872Ter) c.2738C>A (p.Ser913Ter) c.2687C>A (p.Ser896Ter) c.2606C>A (p.Ser869Ter) n.2990C>A | |
| X | g.18628489C>G | CA412367510 | CDKL5 | c.2615C>G (p.Ser872Ter) c.2738C>G (p.Ser913Ter) c.2687C>G (p.Ser896Ter) c.2606C>G (p.Ser869Ter) n.2990C>G | |
| X | g.18628489C>T | CA412367508 | CDKL5 | c.2615C>T (p.Ser872Leu) c.2738C>T (p.Ser913Leu) c.2687C>T (p.Ser896Leu) c.2606C>T (p.Ser869Leu) n.2990C>T | |
| X | g.18628490A>C | CA515470683 | CDKL5 | c.2616A>C (p.Ser872=) c.2739A>C (p.Ser913=) c.2688A>C (p.Ser896=) c.2607A>C (p.Ser869=) n.2991A>C | |
| X | g.18628490A>G | CA515470686 | CDKL5 | c.2616A>G (p.Ser872=) c.2739A>G (p.Ser913=) c.2688A>G (p.Ser896=) c.2607A>G (p.Ser869=) n.2991A>G | |
| X | g.18628490A>T | CA515470684 | CDKL5 | c.2616A>T (p.Ser872=) c.2739A>T (p.Ser913=) c.2688A>T (p.Ser896=) c.2607A>T (p.Ser869=) n.2991A>T | |
| X | g.18628491G>A | CA412367514 | CDKL5 | c.2617G>A (p.Glu873Lys) c.2740G>A (p.Glu914Lys) c.2689G>A (p.Glu897Lys) c.2608G>A (p.Glu870Lys) n.2992G>A | |
| X | g.18628491G>C | CA412367515 | CDKL5 | c.2617G>C (p.Glu873Gln) c.2740G>C (p.Glu914Gln) c.2689G>C (p.Glu897Gln) c.2608G>C (p.Glu870Gln) n.2992G>C | |
| X | g.18628491G>T | CA412367517 | CDKL5 | c.2617G>T (p.Glu873Ter) c.2740G>T (p.Glu914Ter) c.2689G>T (p.Glu897Ter) c.2608G>T (p.Glu870Ter) n.2992G>T | |
| X | g.18628492A>C | CA412367521 | CDKL5 | c.2618A>C (p.Glu873Ala) c.2741A>C (p.Glu914Ala) c.2690A>C (p.Glu897Ala) c.2609A>C (p.Glu870Ala) n.2993A>C | |
| X | g.18628492A>G | CA412367522 | CDKL5 | c.2618A>G (p.Glu873Gly) c.2741A>G (p.Glu914Gly) c.2690A>G (p.Glu897Gly) c.2609A>G (p.Glu870Gly) n.2993A>G | |
| X | g.18628492A>T | CA412367525 | CDKL5 | c.2618A>T (p.Glu873Val) c.2741A>T (p.Glu914Val) c.2690A>T (p.Glu897Val) c.2609A>T (p.Glu870Val) n.2993A>T | |
| X | g.18628493A>C | CA412367528 | CDKL5 | c.2619A>C (p.Glu873Asp) c.2742A>C (p.Glu914Asp) c.2691A>C (p.Glu897Asp) c.2610A>C (p.Glu870Asp) n.2994A>C | |
| X | g.18628493A>G | CA515470691 | CDKL5 | c.2619A>G (p.Glu873=) c.2742A>G (p.Glu914=) c.2691A>G (p.Glu897=) c.2610A>G (p.Glu870=) n.2994A>G | |
| X | g.18628493A>T | CA412367530 | CDKL5 | c.2619A>T (p.Glu873Asp) c.2742A>T (p.Glu914Asp) c.2691A>T (p.Glu897Asp) c.2610A>T (p.Glu870Asp) n.2994A>T | |
| X | g.18628494A>C | CA412367532 | CDKL5 | c.2620A>C (p.Ile874Leu) c.2743A>C (p.Ile915Leu) c.2692A>C (p.Ile898Leu) c.2611A>C (p.Ile871Leu) n.2995A>C | |
| X | g.18628494A>G | CA412367534 | CDKL5 | c.2620A>G (p.Ile874Val) c.2743A>G (p.Ile915Val) c.2692A>G (p.Ile898Val) c.2611A>G (p.Ile871Val) n.2995A>G | |
| X | g.18628494A>T | CA412367537 | CDKL5 | c.2620A>T (p.Ile874Phe) c.2743A>T (p.Ile915Phe) c.2692A>T (p.Ile898Phe) c.2611A>T (p.Ile871Phe) n.2995A>T | |
| X | g.18628495T>A | CA412367540 | CDKL5 | c.2621T>A (p.Ile874Asn) c.2744T>A (p.Ile915Asn) c.2693T>A (p.Ile898Asn) c.2612T>A (p.Ile871Asn) n.2996T>A | |
| X | g.18628495T>C | CA412367545 | CDKL5 | c.2621T>C (p.Ile874Thr) c.2744T>C (p.Ile915Thr) c.2693T>C (p.Ile898Thr) c.2612T>C (p.Ile871Thr) n.2996T>C | |
| X | g.18628495T>G | CA412367542 | CDKL5 | c.2621T>G (p.Ile874Ser) c.2744T>G (p.Ile915Ser) c.2693T>G (p.Ile898Ser) c.2612T>G (p.Ile871Ser) n.2996T>G | |
| X | g.18628496T>A | CA515470698 | CDKL5 | c.2622T>A (p.Ile874=) c.2745T>A (p.Ile915=) c.2694T>A (p.Ile898=) c.2613T>A (p.Ile871=) n.2997T>A | gnomAD v4 |
| X | g.18628496T>C | CA515470699 | CDKL5 | c.2622T>C (p.Ile874=) c.2745T>C (p.Ile915=) c.2694T>C (p.Ile898=) c.2613T>C (p.Ile871=) n.2997T>C | dbSNP |
| X | g.18628496T>G | CA412367547 | CDKL5 | c.2622T>G (p.Ile874Met) c.2745T>G (p.Ile915Met) c.2694T>G (p.Ile898Met) c.2613T>G (p.Ile871Met) n.2997T>G | |
| X | g.18628496T= | CA2417982198 | CDKL5 | c.2622T= (p.Ile874=) c.2745T= (p.Ile915=) c.2694T= (p.Ile898=) c.2613T= (p.Ile871=) n.2997T= | |
| X | g.18628497C>A | CA515470701 | CDKL5 | c.2623C>A (p.Arg875=) c.2746C>A (p.Arg916=) c.2695C>A (p.Arg899=) c.2614C>A (p.Arg872=) n.2998C>A | |
| X | g.18628497C>G | CA412367551 | CDKL5 | c.2623C>G (p.Arg875Gly) c.2746C>G (p.Arg916Gly) c.2695C>G (p.Arg899Gly) c.2614C>G (p.Arg872Gly) n.2998C>G | |
| X | g.18628497C>T | CA412367552 | CDKL5 | c.2623C>T (p.Arg875Trp) c.2746C>T (p.Arg916Trp) c.2695C>T (p.Arg899Trp) c.2614C>T (p.Arg872Trp) n.2998C>T | gnomAD v4 COSMIC |
| X | g.18628498G>A | CA412367555 | CDKL5 | c.2624G>A (p.Arg875Gln) c.2747G>A (p.Arg916Gln) c.2696G>A (p.Arg899Gln) c.2615G>A (p.Arg872Gln) n.2999G>A | gnomAD v4 COSMIC |
| X | g.18628498G>C | CA412367556 | CDKL5 | c.2624G>C (p.Arg875Pro) c.2747G>C (p.Arg916Pro) c.2696G>C (p.Arg899Pro) c.2615G>C (p.Arg872Pro) n.2999G>C | |
| X | g.18628498G>T | CA412367559 | CDKL5 | c.2624G>T (p.Arg875Leu) c.2747G>T (p.Arg916Leu) c.2696G>T (p.Arg899Leu) c.2615G>T (p.Arg872Leu) n.2999G>T | |
| X | g.18628499G>A | CA515470704 | CDKL5 | c.2625G>A (p.Arg875=) c.2748G>A (p.Arg916=) c.2697G>A (p.Arg899=) c.2616G>A (p.Arg872=) n.3000G>A | |
| X | g.18628499G>C | CA515470706 | CDKL5 | c.2625G>C (p.Arg875=) c.2748G>C (p.Arg916=) c.2697G>C (p.Arg899=) c.2616G>C (p.Arg872=) n.3000G>C | dbSNP |
| X | g.18628499G= | CA2417982199 | CDKL5 | c.2625G= (p.Arg875=) c.2748G= (p.Arg916=) c.2697G= (p.Arg899=) c.2616G= (p.Arg872=) n.3000G= | |
| X | g.18628499G>T | CA515470708 | CDKL5 | c.2625G>T (p.Arg875=) c.2748G>T (p.Arg916=) c.2697G>T (p.Arg899=) c.2616G>T (p.Arg872=) n.3000G>T | |
| X | g.18628500A>C | CA412367562 | CDKL5 | c.2626A>C (p.Ile876Leu) c.2749A>C (p.Ile917Leu) c.2698A>C (p.Ile900Leu) c.2617A>C (p.Ile873Leu) n.3001A>C | |
| X | g.18628500A>G | CA412367564 | CDKL5 | c.2626A>G (p.Ile876Val) c.2749A>G (p.Ile917Val) c.2698A>G (p.Ile900Val) c.2617A>G (p.Ile873Val) n.3001A>G | ClinVar gnomAD v4 |
| X | g.18628500A>T | CA412367566 | CDKL5 | c.2626A>T (p.Ile876Phe) c.2749A>T (p.Ile917Phe) c.2698A>T (p.Ile900Phe) c.2617A>T (p.Ile873Phe) n.3001A>T | |
| X | g.18628501T>A | CA412367569 | CDKL5 | c.2627T>A (p.Ile876Asn) c.2750T>A (p.Ile917Asn) c.2699T>A (p.Ile900Asn) c.2618T>A (p.Ile873Asn) n.3002T>A | |
| X | g.18628501T>C | CA412367571 | CDKL5 | c.2627T>C (p.Ile876Thr) c.2750T>C (p.Ile917Thr) c.2699T>C (p.Ile900Thr) c.2618T>C (p.Ile873Thr) n.3002T>C | |
| X | g.18628501T>G | CA412367573 | CDKL5 | c.2627T>G (p.Ile876Ser) c.2750T>G (p.Ile917Ser) c.2699T>G (p.Ile900Ser) c.2618T>G (p.Ile873Ser) n.3002T>G |