Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 | |
X | g.18628502T>A | CA515470714 | CDKL5 | c.2628T>A (p.Ile876=) c.2751T>A (p.Ile917=) c.2700T>A (p.Ile900=) c.2619T>A (p.Ile873=) n.3003T>A | |
X | g.18628502T>C | CA515470716 | CDKL5 | c.2628T>C (p.Ile876=) c.2751T>C (p.Ile917=) c.2700T>C (p.Ile900=) c.2619T>C (p.Ile873=) n.3003T>C | |
X | g.18628502T>G | CA412367576 | CDKL5 | c.2628T>G (p.Ile876Met) c.2751T>G (p.Ile917Met) c.2700T>G (p.Ile900Met) c.2619T>G (p.Ile873Met) n.3003T>G | |
X | g.18628503C>A | CA412367582 | CDKL5 | c.2629C>A (p.His877Asn) c.2752C>A (p.His918Asn) c.2701C>A (p.His901Asn) c.2620C>A (p.His874Asn) n.3004C>A | |
X | g.18628503C>G | CA412367580 | CDKL5 | c.2629C>G (p.His877Asp) c.2752C>G (p.His918Asp) c.2701C>G (p.His901Asp) c.2620C>G (p.His874Asp) n.3004C>G | |
X | g.18628503C>T | CA412367578 | CDKL5 | c.2629C>T (p.His877Tyr) c.2752C>T (p.His918Tyr) c.2701C>T (p.His901Tyr) c.2620C>T (p.His874Tyr) n.3004C>T | gnomAD v4 |
X | g.18628504A>C | CA412367585 | CDKL5 | c.2630A>C (p.His877Pro) c.2753A>C (p.His918Pro) c.2702A>C (p.His901Pro) c.2621A>C (p.His874Pro) n.3005A>C | |
X | g.18628504A>G | CA412367587 | CDKL5 | c.2630A>G (p.His877Arg) c.2753A>G (p.His918Arg) c.2702A>G (p.His901Arg) c.2621A>G (p.His874Arg) n.3005A>G | |
X | g.18628504A>T | CA412367589 | CDKL5 | c.2630A>T (p.His877Leu) c.2753A>T (p.His918Leu) c.2702A>T (p.His901Leu) c.2621A>T (p.His874Leu) n.3005A>T | gnomAD v4 |
X | g.18628505C>A | CA412367592 | CDKL5 | c.2631C>A (p.His877Gln) c.2754C>A (p.His918Gln) c.2703C>A (p.His901Gln) c.2622C>A (p.His874Gln) n.3006C>A | |
X | g.18628505C>G | CA412367595 | CDKL5 | c.2631C>G (p.His877Gln) c.2754C>G (p.His918Gln) c.2703C>G (p.His901Gln) c.2622C>G (p.His874Gln) n.3006C>G | |
X | g.18628505C>T | CA515470719 | CDKL5 | c.2631C>T (p.His877=) c.2754C>T (p.His918=) c.2703C>T (p.His901=) c.2622C>T (p.His874=) n.3006C>T | gnomAD v4 |
X | g.18628506C>A | CA412367597 | CDKL5 | c.2632C>A (p.Pro878Thr) c.2755C>A (p.Pro919Thr) c.2704C>A (p.Pro902Thr) c.2623C>A (p.Pro875Thr) n.3007C>A | |
X | g.18628506C>G | CA412367600 | CDKL5 | c.2632C>G (p.Pro878Ala) c.2755C>G (p.Pro919Ala) c.2704C>G (p.Pro902Ala) c.2623C>G (p.Pro875Ala) n.3007C>G | |
X | g.18628506C>T | CA412367602 | CDKL5 | c.2632C>T (p.Pro878Ser) c.2755C>T (p.Pro919Ser) c.2704C>T (p.Pro902Ser) c.2623C>T (p.Pro875Ser) n.3007C>T | gnomAD v4 COSMIC |
X | g.18628507C>A | CA412367605 | CDKL5 | c.2633C>A (p.Pro878His) c.2756C>A (p.Pro919His) c.2705C>A (p.Pro902His) c.2624C>A (p.Pro875His) n.3008C>A | |
X | g.18628507C>G | CA412367606 | CDKL5 | c.2633C>G (p.Pro878Arg) c.2756C>G (p.Pro919Arg) c.2705C>G (p.Pro902Arg) c.2624C>G (p.Pro875Arg) n.3008C>G | |
X | g.18628507C>T | CA412367609 | CDKL5 | c.2633C>T (p.Pro878Leu) c.2756C>T (p.Pro919Leu) c.2705C>T (p.Pro902Leu) c.2624C>T (p.Pro875Leu) n.3008C>T | |
X | g.18628508C>A | CA515470724 | CDKL5 | c.2634C>A (p.Pro878=) c.2757C>A (p.Pro919=) c.2706C>A (p.Pro902=) c.2625C>A (p.Pro875=) n.3009C>A | gnomAD v4 |
X | g.18628508C= | CA2417982201 | CDKL5 | c.2634C= (p.Pro878=) c.2757C= (p.Pro919=) c.2706C= (p.Pro902=) c.2625C= (p.Pro875=) n.3009C= | |
X | g.18628508C>G | CA515470725 | CDKL5 | c.2634C>G (p.Pro878=) c.2757C>G (p.Pro919=) c.2706C>G (p.Pro902=) c.2625C>G (p.Pro875=) n.3009C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628508C>T | CA515470727 | CDKL5 | c.2634C>T (p.Pro878=) c.2757C>T (p.Pro919=) c.2706C>T (p.Pro902=) c.2625C>T (p.Pro875=) n.3009C>T | gnomAD v4 |
X | g.18628508_18628510delinsCCT | CA2417982200 | CDKL5 | c.2634_2636delinsCCT (p.Pro878=) c.2757_2759delinsCCT (p.Pro919=) c.2706_2708delinsCCT (p.Pro902=) c.2625_2627delinsCCT (p.Pro875=) n.3009_3011delinsCCT | |
X | g.18628509C>A | CA412367612 | CDKL5 | c.2635C>A (p.Leu879Met) c.2758C>A (p.Leu920Met) c.2707C>A (p.Leu903Met) c.2626C>A (p.Leu876Met) n.3010C>A | |
X | g.18628509C>G | CA412367613 | CDKL5 | c.2635C>G (p.Leu879Val) c.2758C>G (p.Leu920Val) c.2707C>G (p.Leu903Val) c.2626C>G (p.Leu876Val) n.3010C>G | |
X | g.18628509C>T | CA515470731 | CDKL5 | c.2635C>T (p.Leu879=) c.2758C>T (p.Leu920=) c.2707C>T (p.Leu903=) c.2626C>T (p.Leu876=) n.3010C>T | |
X | g.18628509_18628510del | CA171634 | CDKL5 | c.2635_2636del (p.Leu879GlufsTer?) c.2758_2759del (p.Leu920GlufsTer?) c.2635_2636del (p.Leu879GlufsTer30) c.2707_2708del (p.Leu903GlufsTer30) c.2626_2627del (p.Leu876GlufsTer30) n.3010_3011del | ClinVar dbSNP |
X | g.18628510del | CA2573055198 | CDKL5 | c.2636del (p.Leu879ArgfsTer?) c.2759del (p.Leu920ArgfsTer?) c.2708del (p.Leu903ArgfsTer?) c.2627del (p.Leu876ArgfsTer?) n.3011del | ClinVar dbSNP |
X | g.18628510T>A | CA412367620 | CDKL5 | c.2636T>A (p.Leu879Gln) c.2759T>A (p.Leu920Gln) c.2708T>A (p.Leu903Gln) c.2627T>A (p.Leu876Gln) n.3011T>A | |
X | g.18628510T>C | CA412367618 | CDKL5 | c.2636T>C (p.Leu879Pro) c.2759T>C (p.Leu920Pro) c.2708T>C (p.Leu903Pro) c.2627T>C (p.Leu876Pro) n.3011T>C | |
X | g.18628510T>G | CA412367616 | CDKL5 | c.2636T>G (p.Leu879Arg) c.2759T>G (p.Leu920Arg) c.2708T>G (p.Leu903Arg) c.2627T>G (p.Leu876Arg) n.3011T>G | |
X | g.18628511G>A | CA515470741 | CDKL5 | c.2637G>A (p.Leu879=) c.2760G>A (p.Leu920=) c.2709G>A (p.Leu903=) c.2628G>A (p.Leu876=) n.3012G>A | |
X | g.18628511G>C | CA515470737 | CDKL5 | c.2637G>C (p.Leu879=) c.2760G>C (p.Leu920=) c.2709G>C (p.Leu903=) c.2628G>C (p.Leu876=) n.3012G>C | |
X | g.18628511G>T | CA515470739 | CDKL5 | c.2637G>T (p.Leu879=) c.2760G>T (p.Leu920=) c.2709G>T (p.Leu903=) c.2628G>T (p.Leu876=) n.3012G>T | |
X | g.18628512A>C | CA412367622 | CDKL5 | c.2638A>C (p.Ser880Arg) c.2761A>C (p.Ser921Arg) c.2710A>C (p.Ser904Arg) c.2629A>C (p.Ser877Arg) n.3013A>C | |
X | g.18628512A>G | CA412367624 | CDKL5 | c.2638A>G (p.Ser880Gly) c.2761A>G (p.Ser921Gly) c.2710A>G (p.Ser904Gly) c.2629A>G (p.Ser877Gly) n.3013A>G | |
X | g.18628512A>T | CA412367625 | CDKL5 | c.2638A>T (p.Ser880Cys) c.2761A>T (p.Ser921Cys) c.2710A>T (p.Ser904Cys) c.2629A>T (p.Ser877Cys) n.3013A>T | |
X | g.18628513G>A | CA412367628 | CDKL5 | c.2639G>A (p.Ser880Asn) c.2762G>A (p.Ser921Asn) c.2711G>A (p.Ser904Asn) c.2630G>A (p.Ser877Asn) n.3014G>A | dbSNP |
X | g.18628513G>C | CA412367630 | CDKL5 | c.2639G>C (p.Ser880Thr) c.2762G>C (p.Ser921Thr) c.2711G>C (p.Ser904Thr) c.2630G>C (p.Ser877Thr) n.3014G>C | |
X | g.18628513G= | CA2417982202 | CDKL5 | c.2639G= (p.Ser880=) c.2762G= (p.Ser921=) c.2711G= (p.Ser904=) c.2630G= (p.Ser877=) n.3014G= | |
X | g.18628513G>T | CA412367631 | CDKL5 | c.2639G>T (p.Ser880Ile) c.2762G>T (p.Ser921Ile) c.2711G>T (p.Ser904Ile) c.2630G>T (p.Ser877Ile) n.3014G>T | |
X | g.18628514C>A | CA412367632 | CDKL5 | c.2640C>A (p.Ser880Arg) c.2763C>A (p.Ser921Arg) c.2712C>A (p.Ser904Arg) c.2631C>A (p.Ser877Arg) n.3015C>A | |
X | g.18628514C>G | CA412367634 | CDKL5 | c.2640C>G (p.Ser880Arg) c.2763C>G (p.Ser921Arg) c.2712C>G (p.Ser904Arg) c.2631C>G (p.Ser877Arg) n.3015C>G | |
X | g.18628514C>T | CA515470752 | CDKL5 | c.2640C>T (p.Ser880=) c.2763C>T (p.Ser921=) c.2712C>T (p.Ser904=) c.2631C>T (p.Ser877=) n.3015C>T | |
X | g.18628515C>A | CA412367637 | CDKL5 | c.2641C>A (p.Gln881Lys) c.2764C>A (p.Gln922Lys) c.2713C>A (p.Gln905Lys) c.2632C>A (p.Gln878Lys) n.3016C>A | |
X | g.18628515C= | CA2417982203 | CDKL5 | c.2641C= (p.Gln881=) c.2764C= (p.Gln922=) c.2713C= (p.Gln905=) c.2632C= (p.Gln878=) n.3016C= | |
X | g.18628515C>G | CA412367639 | CDKL5 | c.2641C>G (p.Gln881Glu) c.2764C>G (p.Gln922Glu) c.2713C>G (p.Gln905Glu) c.2632C>G (p.Gln878Glu) n.3016C>G | |
X | g.18628515C>T | CA16044338 | CDKL5 | c.2641C>T (p.Gln881Ter) c.2764C>T (p.Gln922Ter) c.2713C>T (p.Gln905Ter) c.2632C>T (p.Gln878Ter) n.3016C>T | ClinVar dbSNP |
X | g.18628516A>C | CA412367643 | CDKL5 | c.2642A>C (p.Gln881Pro) c.2765A>C (p.Gln922Pro) c.2714A>C (p.Gln905Pro) c.2633A>C (p.Gln878Pro) n.3017A>C | |
X | g.18628516A>G | CA412367645 | CDKL5 | c.2642A>G (p.Gln881Arg) c.2765A>G (p.Gln922Arg) c.2714A>G (p.Gln905Arg) c.2633A>G (p.Gln878Arg) n.3017A>G | |
X | g.18628516A>T | CA412367647 | CDKL5 | c.2642A>T (p.Gln881Leu) c.2765A>T (p.Gln922Leu) c.2714A>T (p.Gln905Leu) c.2633A>T (p.Gln878Leu) n.3017A>T | |
X | g.18628517G>A | CA515470760 | CDKL5 | c.2643G>A (p.Gln881=) c.2766G>A (p.Gln922=) c.2715G>A (p.Gln905=) c.2634G>A (p.Gln878=) n.3018G>A | |
X | g.18628517G>C | CA412367650 | CDKL5 | c.2643G>C (p.Gln881His) c.2766G>C (p.Gln922His) c.2715G>C (p.Gln905His) c.2634G>C (p.Gln878His) n.3018G>C | |
X | g.18628517G>T | CA412367653 | CDKL5 | c.2643G>T (p.Gln881His) c.2766G>T (p.Gln922His) c.2715G>T (p.Gln905His) c.2634G>T (p.Gln878His) n.3018G>T | |
X | g.18628517_18628518delinsTT | CA645620507 | CDKL5 | c.2643_2644delinsTT (p.Gln881_Ala882delinsHisSer) c.2766_2767delinsTT (p.Gln922_Ala923delinsHisSer) c.2715_2716delinsTT (p.Gln905_Ala906delinsHisSer) c.2634_2635delinsTT (p.Gln878_Ala879delinsHisSer) n.3018_3019delinsTT | COSMIC |
X | g.18628518G>A | CA412367656 | CDKL5 | c.2644G>A (p.Ala882Thr) c.2767G>A (p.Ala923Thr) c.2716G>A (p.Ala906Thr) c.2635G>A (p.Ala879Thr) n.3019G>A | |
X | g.18628518G>C | CA412367657 | CDKL5 | c.2644G>C (p.Ala882Pro) c.2767G>C (p.Ala923Pro) c.2716G>C (p.Ala906Pro) c.2635G>C (p.Ala879Pro) n.3019G>C | |
X | g.18628518G= | CA2417982204 | CDKL5 | c.2644G= (p.Ala882=) c.2767G= (p.Ala923=) c.2716G= (p.Ala906=) c.2635G= (p.Ala879=) n.3019G= | |
X | g.18628518G>T | CA412367660 | CDKL5 | c.2644G>T (p.Ala882Ser) c.2767G>T (p.Ala923Ser) c.2716G>T (p.Ala906Ser) c.2635G>T (p.Ala879Ser) n.3019G>T | dbSNP gnomAD v4 |
X | g.18628519C>A | CA412367662 | CDKL5 | c.2645C>A (p.Ala882Asp) c.2768C>A (p.Ala923Asp) c.2717C>A (p.Ala906Asp) c.2636C>A (p.Ala879Asp) n.3020C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18628519C= | CA2417982205 | CDKL5 | c.2645C= (p.Ala882=) c.2768C= (p.Ala923=) c.2717C= (p.Ala906=) c.2636C= (p.Ala879=) n.3020C= | |
X | g.18628519C>G | CA412367664 | CDKL5 | c.2645C>G (p.Ala882Gly) c.2768C>G (p.Ala923Gly) c.2717C>G (p.Ala906Gly) c.2636C>G (p.Ala879Gly) n.3020C>G | |
X | g.18628519C>T | CA412367670 | CDKL5 | c.2645C>T (p.Ala882Val) c.2768C>T (p.Ala923Val) c.2717C>T (p.Ala906Val) c.2636C>T (p.Ala879Val) n.3020C>T | |
X | g.18628520C>A | CA515470768 | CDKL5 | c.2646C>A (p.Ala882=) c.2769C>A (p.Ala923=) c.2718C>A (p.Ala906=) c.2637C>A (p.Ala879=) n.3021C>A | |
X | g.18628520C>G | CA515470771 | CDKL5 | c.2646C>G (p.Ala882=) c.2769C>G (p.Ala923=) c.2718C>G (p.Ala906=) c.2637C>G (p.Ala879=) n.3021C>G | |
X | g.18628520C>T | CA515470773 | CDKL5 | c.2646C>T (p.Ala882=) c.2769C>T (p.Ala923=) c.2718C>T (p.Ala906=) c.2637C>T (p.Ala879=) n.3021C>T | |
X | g.18628521T>A | CA412367673 | CDKL5 | c.2647T>A (p.Ser883Thr) c.2770T>A (p.Ser924Thr) c.2719T>A (p.Ser907Thr) c.2638T>A (p.Ser880Thr) n.3022T>A | |
X | g.18628521T>C | CA412367674 | CDKL5 | c.2647T>C (p.Ser883Pro) c.2770T>C (p.Ser924Pro) c.2719T>C (p.Ser907Pro) c.2638T>C (p.Ser880Pro) n.3022T>C | |
X | g.18628521T>G | CA412367676 | CDKL5 | c.2647T>G (p.Ser883Ala) c.2770T>G (p.Ser924Ala) c.2719T>G (p.Ser907Ala) c.2638T>G (p.Ser880Ala) n.3022T>G | |
X | g.18628522C>A | CA412367680 | CDKL5 | c.2648C>A (p.Ser883Tyr) c.2771C>A (p.Ser924Tyr) c.2720C>A (p.Ser907Tyr) c.2639C>A (p.Ser880Tyr) n.3023C>A | |
X | g.18628522C>G | CA412367682 | CDKL5 | c.2648C>G (p.Ser883Cys) c.2771C>G (p.Ser924Cys) c.2720C>G (p.Ser907Cys) c.2639C>G (p.Ser880Cys) n.3023C>G | |
X | g.18628522C>T | CA412367684 | CDKL5 | c.2648C>T (p.Ser883Phe) c.2771C>T (p.Ser924Phe) c.2720C>T (p.Ser907Phe) c.2639C>T (p.Ser880Phe) n.3023C>T | |
X | g.18628523T>A | CA515470779 | CDKL5 | c.2649T>A (p.Ser883=) c.2772T>A (p.Ser924=) c.2721T>A (p.Ser907=) c.2640T>A (p.Ser880=) n.3024T>A | |
X | g.18628523T>C | CA515470780 | CDKL5 | c.2649T>C (p.Ser883=) c.2772T>C (p.Ser924=) c.2721T>C (p.Ser907=) c.2640T>C (p.Ser880=) n.3024T>C | |
X | g.18628523T>G | CA515470781 | CDKL5 | c.2649T>G (p.Ser883=) c.2772T>G (p.Ser924=) c.2721T>G (p.Ser907=) c.2640T>G (p.Ser880=) n.3024T>G | |
X | g.18628524G>A | CA412367688 | CDKL5 | c.2650G>A (p.Gly884Ser) c.2773G>A (p.Gly925Ser) c.2722G>A (p.Gly908Ser) c.2641G>A (p.Gly881Ser) n.3025G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628524G>C | CA412367691 | CDKL5 | c.2650G>C (p.Gly884Arg) c.2773G>C (p.Gly925Arg) c.2722G>C (p.Gly908Arg) c.2641G>C (p.Gly881Arg) n.3025G>C | |
X | g.18628524G= | CA2417982206 | CDKL5 | c.2650G= (p.Gly884=) c.2773G= (p.Gly925=) c.2722G= (p.Gly908=) c.2641G= (p.Gly881=) n.3025G= | |
X | g.18628524G>T | CA412367690 | CDKL5 | c.2650G>T (p.Gly884Cys) c.2773G>T (p.Gly925Cys) c.2722G>T (p.Gly908Cys) c.2641G>T (p.Gly881Cys) n.3025G>T | |
X | g.18628525G>A | CA412367694 | CDKL5 | c.2651G>A (p.Gly884Asp) c.2774G>A (p.Gly925Asp) c.2723G>A (p.Gly908Asp) c.2642G>A (p.Gly881Asp) n.3026G>A | |
X | g.18628525G>C | CA412367696 | CDKL5 | c.2651G>C (p.Gly884Ala) c.2774G>C (p.Gly925Ala) c.2723G>C (p.Gly908Ala) c.2642G>C (p.Gly881Ala) n.3026G>C | |
X | g.18628525G>T | CA412367698 | CDKL5 | c.2651G>T (p.Gly884Val) c.2774G>T (p.Gly925Val) c.2723G>T (p.Gly908Val) c.2642G>T (p.Gly881Val) n.3026G>T | |
X | g.18628526C>A | CA515470790 | CDKL5 | c.2652C>A (p.Gly884=) c.2775C>A (p.Gly925=) c.2724C>A (p.Gly908=) c.2643C>A (p.Gly881=) n.3027C>A | |
X | g.18628526C= | CA2417982207 | CDKL5 | c.2652C= (p.Gly884=) c.2775C= (p.Gly925=) c.2724C= (p.Gly908=) c.2643C= (p.Gly881=) n.3027C= | |
X | g.18628526C>G | CA515470791 | CDKL5 | c.2652C>G (p.Gly884=) c.2775C>G (p.Gly925=) c.2724C>G (p.Gly908=) c.2643C>G (p.Gly881=) n.3027C>G | |
X | g.18628526C>T | CA10360570 | CDKL5 | c.2652C>T (p.Gly884=) c.2775C>T (p.Gly925=) c.2724C>T (p.Gly908=) c.2643C>T (p.Gly881=) n.3027C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628527G>A | CA171635 | CDKL5 | c.2653G>A (p.Gly885Arg) c.2776G>A (p.Gly926Arg) c.2725G>A (p.Gly909Arg) c.2644G>A (p.Gly882Arg) n.3028G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18628527G>C | CA412367703 | CDKL5 | c.2653G>C (p.Gly885Arg) c.2776G>C (p.Gly926Arg) c.2725G>C (p.Gly909Arg) c.2644G>C (p.Gly882Arg) n.3028G>C | |
X | g.18628527G= | CA2417982208 | CDKL5 | c.2653G= (p.Gly885=) c.2776G= (p.Gly926=) c.2725G= (p.Gly909=) c.2644G= (p.Gly882=) n.3028G= | |
X | g.18628527G>T | CA412367705 | CDKL5 | c.2653G>T (p.Gly885Trp) c.2776G>T (p.Gly926Trp) c.2725G>T (p.Gly909Trp) c.2644G>T (p.Gly882Trp) n.3028G>T | |
X | g.18628528G>A | CA412367707 | CDKL5 | c.2654G>A (p.Gly885Glu) c.2777G>A (p.Gly926Glu) c.2726G>A (p.Gly909Glu) c.2645G>A (p.Gly882Glu) n.3029G>A | |
X | g.18628528G>C | CA412367709 | CDKL5 | c.2654G>C (p.Gly885Ala) c.2777G>C (p.Gly926Ala) c.2726G>C (p.Gly909Ala) c.2645G>C (p.Gly882Ala) n.3029G>C | |
X | g.18628528G>T | CA412367712 | CDKL5 | c.2654G>T (p.Gly885Val) c.2777G>T (p.Gly926Val) c.2726G>T (p.Gly909Val) c.2645G>T (p.Gly882Val) n.3029G>T | |
X | g.18628529G>A | CA515470804 | CDKL5 | c.2655G>A (p.Gly885=) c.2778G>A (p.Gly926=) c.2727G>A (p.Gly909=) c.2646G>A (p.Gly882=) n.3030G>A | ClinVar dbSNP gnomAD v4 |
X | g.18628529G>C | CA515470805 | CDKL5 | c.2655G>C (p.Gly885=) c.2778G>C (p.Gly926=) c.2727G>C (p.Gly909=) c.2646G>C (p.Gly882=) n.3030G>C | |
X | g.18628529G= | CA2417982209 | CDKL5 | c.2655G= (p.Gly885=) c.2778G= (p.Gly926=) c.2727G= (p.Gly909=) c.2646G= (p.Gly882=) n.3030G= | |
X | g.18628529G>T | CA515470806 | CDKL5 | c.2655G>T (p.Gly885=) c.2778G>T (p.Gly926=) c.2727G>T (p.Gly909=) c.2646G>T (p.Gly882=) n.3030G>T | |
X | g.18628530A>C | CA412367715 | CDKL5 | c.2656A>C (p.Ser886Arg) c.2779A>C (p.Ser927Arg) c.2728A>C (p.Ser910Arg) c.2647A>C (p.Ser883Arg) n.3031A>C | |
X | g.18628530A>G | CA412367717 | CDKL5 | c.2656A>G (p.Ser886Gly) c.2779A>G (p.Ser927Gly) c.2728A>G (p.Ser910Gly) c.2647A>G (p.Ser883Gly) n.3031A>G | |
X | g.18628530A>T | CA412367719 | CDKL5 | c.2656A>T (p.Ser886Cys) c.2779A>T (p.Ser927Cys) c.2728A>T (p.Ser910Cys) c.2647A>T (p.Ser883Cys) n.3031A>T | |
X | g.18628531G>A | CA412367726 | CDKL5 | c.2657G>A (p.Ser886Asn) c.2780G>A (p.Ser927Asn) c.2729G>A (p.Ser910Asn) c.2648G>A (p.Ser883Asn) n.3032G>A | |
X | g.18628531G>C | CA412367724 | CDKL5 | c.2657G>C (p.Ser886Thr) c.2780G>C (p.Ser927Thr) c.2729G>C (p.Ser910Thr) c.2648G>C (p.Ser883Thr) n.3032G>C | |
X | g.18628531G>T | CA412367722 | CDKL5 | c.2657G>T (p.Ser886Ile) c.2780G>T (p.Ser927Ile) c.2729G>T (p.Ser910Ile) c.2648G>T (p.Ser883Ile) n.3032G>T | |
X | g.18628532C>A | CA412367727 | CDKL5 | c.2658C>A (p.Ser886Arg) c.2781C>A (p.Ser927Arg) c.2730C>A (p.Ser910Arg) c.2649C>A (p.Ser883Arg) n.3033C>A | |
X | g.18628532C>G | CA412367729 | CDKL5 | c.2658C>G (p.Ser886Arg) c.2781C>G (p.Ser927Arg) c.2730C>G (p.Ser910Arg) c.2649C>G (p.Ser883Arg) n.3033C>G | |
X | g.18628532C>T | CA515470810 | CDKL5 | c.2658C>T (p.Ser886=) c.2781C>T (p.Ser927=) c.2730C>T (p.Ser910=) c.2649C>T (p.Ser883=) n.3033C>T | |
X | g.18628533A>C | CA412367732 | CDKL5 | c.2659A>C (p.Ser887Arg) c.2782A>C (p.Ser928Arg) c.2731A>C (p.Ser911Arg) c.2650A>C (p.Ser884Arg) n.3034A>C | |
X | g.18628533A>G | CA412367734 | CDKL5 | c.2659A>G (p.Ser887Gly) c.2782A>G (p.Ser928Gly) c.2731A>G (p.Ser911Gly) c.2650A>G (p.Ser884Gly) n.3034A>G | |
X | g.18628533A>T | CA412367736 | CDKL5 | c.2659A>T (p.Ser887Cys) c.2782A>T (p.Ser928Cys) c.2731A>T (p.Ser911Cys) c.2650A>T (p.Ser884Cys) n.3034A>T | |
X | g.18628534G>A | CA412367739 | CDKL5 | c.2660G>A (p.Ser887Asn) c.2783G>A (p.Ser928Asn) c.2732G>A (p.Ser911Asn) c.2651G>A (p.Ser884Asn) n.3035G>A | |
X | g.18628534G>C | CA412367741 | CDKL5 | c.2660G>C (p.Ser887Thr) c.2783G>C (p.Ser928Thr) c.2732G>C (p.Ser911Thr) c.2651G>C (p.Ser884Thr) n.3035G>C | |
X | g.18628534G>T | CA412367743 | CDKL5 | c.2660G>T (p.Ser887Ile) c.2783G>T (p.Ser928Ile) c.2732G>T (p.Ser911Ile) c.2651G>T (p.Ser884Ile) n.3035G>T | |
X | g.18628534_18628540del | CA2695231353 | CDKL5 | c.2660_2666del (p.Ser887ThrfsTer28) c.2783_2789del (p.Ser928ThrfsTer28) c.2660_2666del (p.Ser887ThrfsTer?) c.2732_2738del (p.Ser911ThrfsTer?) c.2651_2657del (p.Ser884ThrfsTer?) n.3035_3041del | |
X | g.18628534_18628543delinsCC | CA2695231354 | CDKL5 | c.2660_2669delinsCC (p.Ser887ThrfsTer?) c.2783_2792delinsCC (p.Ser928ThrfsTer?) c.2660_2669delinsCC (p.Ser887ThrfsTer20) c.2732_2741delinsCC (p.Ser911ThrfsTer20) c.2651_2660delinsCC (p.Ser884ThrfsTer20) n.3035_3044delinsCC | |
X | g.18628535del | CA2528281511 | CDKL5 | c.2661del (p.Ser887ArgfsTer30) c.2784del (p.Ser928ArgfsTer30) c.2661del (p.Ser887ArgfsTer?) c.2733del (p.Ser911ArgfsTer?) c.2652del (p.Ser884ArgfsTer?) n.3036del | |
X | g.18628535C>A | CA327009058 | CDKL5 | c.2661C>A (p.Ser887Arg) c.2784C>A (p.Ser928Arg) c.2733C>A (p.Ser911Arg) c.2652C>A (p.Ser884Arg) n.3036C>A | dbSNP |
X | g.18628535C= | CA2417982210 | CDKL5 | c.2661C= (p.Ser887=) c.2784C= (p.Ser928=) c.2733C= (p.Ser911=) c.2652C= (p.Ser884=) n.3036C= | |
X | g.18628535C>G | CA412367749 | CDKL5 | c.2661C>G (p.Ser887Arg) c.2784C>G (p.Ser928Arg) c.2733C>G (p.Ser911Arg) c.2652C>G (p.Ser884Arg) n.3036C>G | |
X | g.18628535C>T | CA515470818 | CDKL5 | c.2661C>T (p.Ser887=) c.2784C>T (p.Ser928=) c.2733C>T (p.Ser911=) c.2652C>T (p.Ser884=) n.3036C>T | |
X | g.18628536A>C | CA412367752 | CDKL5 | c.2662A>C (p.Asn888His) c.2785A>C (p.Asn929His) c.2734A>C (p.Asn912His) c.2653A>C (p.Asn885His) n.3037A>C | |
X | g.18628536A>G | CA412367754 | CDKL5 | c.2662A>G (p.Asn888Asp) c.2785A>G (p.Asn929Asp) c.2734A>G (p.Asn912Asp) c.2653A>G (p.Asn885Asp) n.3037A>G | |
X | g.18628536A>T | CA412367755 | CDKL5 | c.2662A>T (p.Asn888Tyr) c.2785A>T (p.Asn929Tyr) c.2734A>T (p.Asn912Tyr) c.2653A>T (p.Asn885Tyr) n.3037A>T | |
X | g.18628537del | CA2695231355 | CDKL5 | c.2663del (p.Asn888ThrfsTer29) c.2786del (p.Asn929ThrfsTer29) c.2663del (p.Asn888ThrfsTer?) c.2735del (p.Asn912ThrfsTer?) c.2654del (p.Asn885ThrfsTer?) n.3038del | |
X | g.18628537A>C | CA412367764 | CDKL5 | c.2663A>C (p.Asn888Thr) c.2786A>C (p.Asn929Thr) c.2735A>C (p.Asn912Thr) c.2654A>C (p.Asn885Thr) n.3038A>C | |
X | g.18628537A>G | CA412367766 | CDKL5 | c.2663A>G (p.Asn888Ser) c.2786A>G (p.Asn929Ser) c.2735A>G (p.Asn912Ser) c.2654A>G (p.Asn885Ser) n.3038A>G | |
X | g.18628537A>T | CA412367759 | CDKL5 | c.2663A>T (p.Asn888Ile) c.2786A>T (p.Asn929Ile) c.2735A>T (p.Asn912Ile) c.2654A>T (p.Asn885Ile) n.3038A>T | |
X | g.18628538C>A | CA412367779 | CDKL5 | c.2664C>A (p.Asn888Lys) c.2787C>A (p.Asn929Lys) c.2736C>A (p.Asn912Lys) c.2655C>A (p.Asn885Lys) n.3039C>A | |
X | g.18628538C>G | CA412367784 | CDKL5 | c.2664C>G (p.Asn888Lys) c.2787C>G (p.Asn929Lys) c.2736C>G (p.Asn912Lys) c.2655C>G (p.Asn885Lys) n.3039C>G | |
X | g.18628538C>T | CA515470836 | CDKL5 | c.2664C>T (p.Asn888=) c.2787C>T (p.Asn929=) c.2736C>T (p.Asn912=) c.2655C>T (p.Asn885=) n.3039C>T | |
X | g.18628539A>C | CA412367793 | CDKL5 | c.2665A>C (p.Ile889Leu) c.2788A>C (p.Ile930Leu) c.2737A>C (p.Ile913Leu) c.2656A>C (p.Ile886Leu) n.3040A>C | |
X | g.18628539A>G | CA412367797 | CDKL5 | c.2665A>G (p.Ile889Val) c.2788A>G (p.Ile930Val) c.2737A>G (p.Ile913Val) c.2656A>G (p.Ile886Val) n.3040A>G | |
X | g.18628539A>T | CA412367803 | CDKL5 | c.2665A>T (p.Ile889Phe) c.2788A>T (p.Ile930Phe) c.2737A>T (p.Ile913Phe) c.2656A>T (p.Ile886Phe) n.3040A>T | |
X | g.18628540T>A | CA412367808 | CDKL5 | c.2666T>A (p.Ile889Asn) c.2789T>A (p.Ile930Asn) c.2738T>A (p.Ile913Asn) c.2657T>A (p.Ile886Asn) n.3041T>A | |
X | g.18628540T>C | CA412367814 | CDKL5 | c.2666T>C (p.Ile889Thr) c.2789T>C (p.Ile930Thr) c.2738T>C (p.Ile913Thr) c.2657T>C (p.Ile886Thr) n.3041T>C | |
X | g.18628540T>G | CA412367818 | CDKL5 | c.2666T>G (p.Ile889Ser) c.2789T>G (p.Ile930Ser) c.2738T>G (p.Ile913Ser) c.2657T>G (p.Ile886Ser) n.3041T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628540T= | CA2417982211 | CDKL5 | c.2666T= (p.Ile889=) c.2789T= (p.Ile930=) c.2738T= (p.Ile913=) c.2657T= (p.Ile886=) n.3041T= | |
X | g.18628541C>A | CA515470850 | CDKL5 | c.2667C>A (p.Ile889=) c.2790C>A (p.Ile930=) c.2739C>A (p.Ile913=) c.2658C>A (p.Ile886=) n.3042C>A | |
X | g.18628541C= | CA2417982212 | CDKL5 | c.2667C= (p.Ile889=) c.2790C= (p.Ile930=) c.2739C= (p.Ile913=) c.2658C= (p.Ile886=) n.3042C= | |
X | g.18628541C>G | CA412367823 | CDKL5 | c.2667C>G (p.Ile889Met) c.2790C>G (p.Ile930Met) c.2739C>G (p.Ile913Met) c.2658C>G (p.Ile886Met) n.3042C>G | |
X | g.18628541C>T | CA515470851 | CDKL5 | c.2667C>T (p.Ile889=) c.2790C>T (p.Ile930=) c.2739C>T (p.Ile913=) c.2658C>T (p.Ile886=) n.3042C>T | dbSNP |
X | g.18628542C>A | CA515470853 | CDKL5 | c.2668C>A (p.Arg890=) c.2791C>A (p.Arg931=) c.2740C>A (p.Arg914=) c.2659C>A (p.Arg887=) n.3043C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628542C= | CA2417982213 | CDKL5 | c.2668C= (p.Arg890=) c.2791C= (p.Arg931=) c.2740C= (p.Arg914=) c.2659C= (p.Arg887=) n.3043C= | |
X | g.18628542C>G | CA412367827 | CDKL5 | c.2668C>G (p.Arg890Gly) c.2791C>G (p.Arg931Gly) c.2740C>G (p.Arg914Gly) c.2659C>G (p.Arg887Gly) n.3043C>G | |
X | g.18628542C>T | CA412367828 | CDKL5 | c.2668C>T (p.Arg890Trp) c.2791C>T (p.Arg931Trp) c.2740C>T (p.Arg914Trp) c.2659C>T (p.Arg887Trp) n.3043C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18628543G>A | CA327009061 | CDKL5 | c.2669G>A (p.Arg890Gln) c.2792G>A (p.Arg931Gln) c.2741G>A (p.Arg914Gln) c.2660G>A (p.Arg887Gln) n.3044G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628543G>C | CA412367838 | CDKL5 | c.2669G>C (p.Arg890Pro) c.2792G>C (p.Arg931Pro) c.2741G>C (p.Arg914Pro) c.2660G>C (p.Arg887Pro) n.3044G>C | |
X | g.18628543G= | CA2417982214 | CDKL5 | c.2669G= (p.Arg890=) c.2792G= (p.Arg931=) c.2741G= (p.Arg914=) c.2660G= (p.Arg887=) n.3044G= | |
X | g.18628543G>T | CA412367834 | CDKL5 | c.2669G>T (p.Arg890Leu) c.2792G>T (p.Arg931Leu) c.2741G>T (p.Arg914Leu) c.2660G>T (p.Arg887Leu) n.3044G>T | gnomAD v4 |
X | g.18628543_18628553delinsGGCAGGAACCC | CA2417982215 | CDKL5 | c.2669_2679delinsGGCAGGAACCC (p.Arg890=) c.2792_2802delinsGGCAGGAACCC (p.Arg931=) c.2741_2751delinsGGCAGGAACCC (p.Arg914=) c.2660_2670delinsGGCAGGAACCC (p.Arg887=) n.3044_3054delinsGGCAGGAACCC | |
X | g.18628544G>A | CA515470865 | CDKL5 | c.2670G>A (p.Arg890=) c.2793G>A (p.Arg931=) c.2742G>A (p.Arg914=) c.2661G>A (p.Arg887=) n.3045G>A | |
X | g.18628544G>C | CA515470866 | CDKL5 | c.2670G>C (p.Arg890=) c.2793G>C (p.Arg931=) c.2742G>C (p.Arg914=) c.2661G>C (p.Arg887=) n.3045G>C | |
X | g.18628544G>T | CA515470869 | CDKL5 | c.2670G>T (p.Arg890=) c.2793G>T (p.Arg931=) c.2742G>T (p.Arg914=) c.2661G>T (p.Arg887=) n.3045G>T | |
X | g.18628547_18628556del | CA916083849 | CDKL5 | c.2673_2682del (p.Gln891HisfsTer23) c.2796_2805del (p.Gln932HisfsTer23) c.2673_2682del (p.Gln891HisfsTer?) c.2745_2754del (p.Gln915HisfsTer?) c.2664_2673del (p.Gln888HisfsTer?) n.3048_3057del | ClinVar dbSNP |
X | g.18628545C>A | CA412367850 | CDKL5 | c.2671C>A (p.Gln891Lys) c.2794C>A (p.Gln932Lys) c.2743C>A (p.Gln915Lys) c.2662C>A (p.Gln888Lys) n.3046C>A | COSMIC |
X | g.18628545C= | CA2417982216 | CDKL5 | c.2671C= (p.Gln891=) c.2794C= (p.Gln932=) c.2743C= (p.Gln915=) c.2662C= (p.Gln888=) n.3046C= | |
X | g.18628545C>G | CA412367853 | CDKL5 | c.2671C>G (p.Gln891Glu) c.2794C>G (p.Gln932Glu) c.2743C>G (p.Gln915Glu) c.2662C>G (p.Gln888Glu) n.3046C>G | COSMIC |
X | g.18628545C>T | CA294766 | CDKL5 | c.2671C>T (p.Gln891Ter) c.2794C>T (p.Gln932Ter) c.2743C>T (p.Gln915Ter) c.2662C>T (p.Gln888Ter) n.3046C>T | ClinVar dbSNP |
X | g.18628546A>C | CA412367863 | CDKL5 | c.2672A>C (p.Gln891Pro) c.2795A>C (p.Gln932Pro) c.2744A>C (p.Gln915Pro) c.2663A>C (p.Gln888Pro) n.3047A>C | |
X | g.18628546A>G | CA412367866 | CDKL5 | c.2672A>G (p.Gln891Arg) c.2795A>G (p.Gln932Arg) c.2744A>G (p.Gln915Arg) c.2663A>G (p.Gln888Arg) n.3047A>G | |
X | g.18628546A>T | CA412367871 | CDKL5 | c.2672A>T (p.Gln891Leu) c.2795A>T (p.Gln932Leu) c.2744A>T (p.Gln915Leu) c.2663A>T (p.Gln888Leu) n.3047A>T | |
X | g.18628547G>A | CA199339 | CDKL5 | c.2673G>A (p.Gln891=) c.2796G>A (p.Gln932=) c.2745G>A (p.Gln915=) c.2664G>A (p.Gln888=) n.3048G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628547G>C | CA412367882 | CDKL5 | c.2673G>C (p.Gln891His) c.2796G>C (p.Gln932His) c.2745G>C (p.Gln915His) c.2664G>C (p.Gln888His) n.3048G>C | |
X | g.18628547G= | CA2417982217 | CDKL5 | c.2673G= (p.Gln891=) c.2796G= (p.Gln932=) c.2745G= (p.Gln915=) c.2664G= (p.Gln888=) n.3048G= | |
X | g.18628547G>T | CA412367898 | CDKL5 | c.2673G>T (p.Gln891His) c.2796G>T (p.Gln932His) c.2745G>T (p.Gln915His) c.2664G>T (p.Gln888His) n.3048G>T | |
X | g.18628548G>A | CA412367906 | CDKL5 | c.2674G>A (p.Glu892Lys) c.2797G>A (p.Glu933Lys) c.2746G>A (p.Glu916Lys) c.2665G>A (p.Glu889Lys) n.3049G>A | |
X | g.18628548G>C | CA412367911 | CDKL5 | c.2674G>C (p.Glu892Gln) c.2797G>C (p.Glu933Gln) c.2746G>C (p.Glu916Gln) c.2665G>C (p.Glu889Gln) n.3049G>C | |
X | g.18628548G>T | CA412367915 | CDKL5 | c.2674G>T (p.Glu892Ter) c.2797G>T (p.Glu933Ter) c.2746G>T (p.Glu916Ter) c.2665G>T (p.Glu889Ter) n.3049G>T | |
X | g.18628549A>C | CA412367930 | CDKL5 | c.2675A>C (p.Glu892Ala) c.2798A>C (p.Glu933Ala) c.2747A>C (p.Glu916Ala) c.2666A>C (p.Glu889Ala) n.3050A>C | |
X | g.18628549A>G | CA412367927 | CDKL5 | c.2675A>G (p.Glu892Gly) c.2798A>G (p.Glu933Gly) c.2747A>G (p.Glu916Gly) c.2666A>G (p.Glu889Gly) n.3050A>G | |
X | g.18628549A>T | CA412367921 | CDKL5 | c.2675A>T (p.Glu892Val) c.2798A>T (p.Glu933Val) c.2747A>T (p.Glu916Val) c.2666A>T (p.Glu889Val) n.3050A>T | |
X | g.18628550A>C | CA412367938 | CDKL5 | c.2676A>C (p.Glu892Asp) c.2799A>C (p.Glu933Asp) c.2748A>C (p.Glu916Asp) c.2667A>C (p.Glu889Asp) n.3051A>C | |
X | g.18628550A>G | CA515470901 | CDKL5 | c.2676A>G (p.Glu892=) c.2799A>G (p.Glu933=) c.2748A>G (p.Glu916=) c.2667A>G (p.Glu889=) n.3051A>G | |
X | g.18628550A>T | CA412367941 | CDKL5 | c.2676A>T (p.Glu892Asp) c.2799A>T (p.Glu933Asp) c.2748A>T (p.Glu916Asp) c.2667A>T (p.Glu889Asp) n.3051A>T | |
X | g.18628551C>A | CA412367948 | CDKL5 | c.2677C>A (p.Pro893Thr) c.2800C>A (p.Pro934Thr) c.2749C>A (p.Pro917Thr) c.2668C>A (p.Pro890Thr) n.3052C>A | |
X | g.18628551C= | CA2417982218 | CDKL5 | c.2677C= (p.Pro893=) c.2800C= (p.Pro934=) c.2749C= (p.Pro917=) c.2668C= (p.Pro890=) n.3052C= | |
X | g.18628551C>G | CA412367956 | CDKL5 | c.2677C>G (p.Pro893Ala) c.2800C>G (p.Pro934Ala) c.2749C>G (p.Pro917Ala) c.2668C>G (p.Pro890Ala) n.3052C>G | |
X | g.18628551C>T | CA10360571 | CDKL5 | c.2677C>T (p.Pro893Ser) c.2800C>T (p.Pro934Ser) c.2749C>T (p.Pro917Ser) c.2668C>T (p.Pro890Ser) n.3052C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628552C>A | CA412367963 | CDKL5 | c.2678C>A (p.Pro893His) c.2801C>A (p.Pro934His) c.2750C>A (p.Pro917His) c.2669C>A (p.Pro890His) n.3053C>A | |
X | g.18628552C>G | CA412367969 | CDKL5 | c.2678C>G (p.Pro893Arg) c.2801C>G (p.Pro934Arg) c.2750C>G (p.Pro917Arg) c.2669C>G (p.Pro890Arg) n.3053C>G | |
X | g.18628552C>T | CA412367966 | CDKL5 | c.2678C>T (p.Pro893Leu) c.2801C>T (p.Pro934Leu) c.2750C>T (p.Pro917Leu) c.2669C>T (p.Pro890Leu) n.3053C>T | |
X | g.18628553C>A | CA515470917 | CDKL5 | c.2679C>A (p.Pro893=) c.2802C>A (p.Pro934=) c.2751C>A (p.Pro917=) c.2670C>A (p.Pro890=) n.3054C>A | |
X | g.18628553C= | CA2417982219 | CDKL5 | c.2679C= (p.Pro893=) c.2802C= (p.Pro934=) c.2751C= (p.Pro917=) c.2670C= (p.Pro890=) n.3054C= | |
X | g.18628553C>G | CA515470918 | CDKL5 | c.2679C>G (p.Pro893=) c.2802C>G (p.Pro934=) c.2751C>G (p.Pro917=) c.2670C>G (p.Pro890=) n.3054C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628553C>T | CA327009066 | CDKL5 | c.2679C>T (p.Pro893=) c.2802C>T (p.Pro934=) c.2751C>T (p.Pro917=) c.2670C>T (p.Pro890=) n.3054C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628553_18628554insAAACACACCCAAC | CA2819912966 | CDKL5 | c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer?) c.2802_2803insAAACACACCCAAC (p.Ala935LysfsTer?) c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer20) c.2751_2752insAAACACACCCAAC (p.Ala918LysfsTer20) c.2670_2671insAAACACACCCAAC (p.Ala891LysfsTer20) n.3054_3055insAAACACACCCAAC | |
X | g.18628554G>A | CA10360572 | CDKL5 | c.2680G>A (p.Ala894Thr) c.2803G>A (p.Ala935Thr) c.2752G>A (p.Ala918Thr) c.2671G>A (p.Ala891Thr) n.3055G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628554G>C | CA412367987 | CDKL5 | c.2680G>C (p.Ala894Pro) c.2803G>C (p.Ala935Pro) c.2752G>C (p.Ala918Pro) c.2671G>C (p.Ala891Pro) n.3055G>C | ClinVar dbSNP gnomAD v4 |
X | g.18628554G= | CA2417982220 | CDKL5 | c.2680G= (p.Ala894=) c.2803G= (p.Ala935=) c.2752G= (p.Ala918=) c.2671G= (p.Ala891=) n.3055G= | |
X | g.18628554G>T | CA412367998 | CDKL5 | c.2680G>T (p.Ala894Ser) c.2803G>T (p.Ala935Ser) c.2752G>T (p.Ala918Ser) c.2671G>T (p.Ala891Ser) n.3055G>T | ClinVar |
X | g.18628555C>A | CA412368005 | CDKL5 | c.2681C>A (p.Ala894Glu) c.2804C>A (p.Ala935Glu) c.2753C>A (p.Ala918Glu) c.2672C>A (p.Ala891Glu) n.3056C>A | |
X | g.18628555C= | CA2417982221 | CDKL5 | c.2681C= (p.Ala894=) c.2804C= (p.Ala935=) c.2753C= (p.Ala918=) c.2672C= (p.Ala891=) n.3056C= | |
X | g.18628555C>G | CA412368008 | CDKL5 | c.2681C>G (p.Ala894Gly) c.2804C>G (p.Ala935Gly) c.2753C>G (p.Ala918Gly) c.2672C>G (p.Ala891Gly) n.3056C>G | |
X | g.18628555C>T | CA412368011 | CDKL5 | c.2681C>T (p.Ala894Val) c.2804C>T (p.Ala935Val) c.2753C>T (p.Ala918Val) c.2672C>T (p.Ala891Val) n.3056C>T | gnomAD v4 |
X | g.18628556A>C | CA515470939 | CDKL5 | c.2682A>C (p.Ala894=) c.2805A>C (p.Ala935=) c.2754A>C (p.Ala918=) c.2673A>C (p.Ala891=) n.3057A>C | |
X | g.18628556A>G | CA515470941 | CDKL5 | c.2682A>G (p.Ala894=) c.2805A>G (p.Ala935=) c.2754A>G (p.Ala918=) c.2673A>G (p.Ala891=) n.3057A>G | |
X | g.18628556A>T | CA515470943 | CDKL5 | c.2682A>T (p.Ala894=) c.2805A>T (p.Ala935=) c.2754A>T (p.Ala918=) c.2673A>T (p.Ala891=) n.3057A>T | |
X | g.18628556_18628557insGGAA | CA891843847 | CDKL5 | c.2682_2683insGGAA (p.Pro895GlyfsTer?) c.2805_2806insGGAA (p.Pro936GlyfsTer?) c.2682_2683insGGAA (p.Pro895GlyfsTer16) c.2754_2755insGGAA (p.Pro919GlyfsTer16) c.2673_2674insGGAA (p.Pro892GlyfsTer16) n.3057_3058insGGAA | ClinVar dbSNP |
X | g.18628556dup | CA1139667259 | CDKL5 | c.2682dup (p.Pro895ThrfsTer?) c.2805dup (p.Pro936ThrfsTer?) c.2682dup (p.Pro895ThrfsTer15) c.2754dup (p.Pro919ThrfsTer15) c.2673dup (p.Pro892ThrfsTer15) n.3057dup | ClinVar dbSNP |
X | g.18628557C>A | CA412368014 | CDKL5 | c.2683C>A (p.Pro895Thr) c.2806C>A (p.Pro936Thr) c.2755C>A (p.Pro919Thr) c.2674C>A (p.Pro892Thr) n.3058C>A | ClinVar |
X | g.18628557C>G | CA412368017 | CDKL5 | c.2683C>G (p.Pro895Ala) c.2806C>G (p.Pro936Ala) c.2755C>G (p.Pro919Ala) c.2674C>G (p.Pro892Ala) n.3058C>G | |
X | g.18628557C>T | CA412368020 | CDKL5 | c.2683C>T (p.Pro895Ser) c.2806C>T (p.Pro936Ser) c.2755C>T (p.Pro919Ser) c.2674C>T (p.Pro892Ser) n.3058C>T | ClinVar |
X | g.18628558C>A | CA412368026 | CDKL5 | c.2684C>A (p.Pro895Gln) c.2807C>A (p.Pro936Gln) c.2756C>A (p.Pro919Gln) c.2675C>A (p.Pro892Gln) n.3059C>A | COSMIC |
X | g.18628558C= | CA2417982222 | CDKL5 | c.2684C= (p.Pro895=) c.2807C= (p.Pro936=) c.2756C= (p.Pro919=) c.2675C= (p.Pro892=) n.3059C= | |
X | g.18628558C>G | CA412368035 | CDKL5 | c.2684C>G (p.Pro895Arg) c.2807C>G (p.Pro936Arg) c.2756C>G (p.Pro919Arg) c.2675C>G (p.Pro892Arg) n.3059C>G | |
X | g.18628558C>T | CA294762 | CDKL5 | c.2684C>T (p.Pro895Leu) c.2807C>T (p.Pro936Leu) c.2756C>T (p.Pro919Leu) c.2675C>T (p.Pro892Leu) n.3059C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18628559G>A | CA515471689 | CDKL5 | c.2685G>A (p.Pro895=) c.2808G>A (p.Pro936=) c.2757G>A (p.Pro919=) c.2676G>A (p.Pro892=) n.3060G>A | ClinVar gnomAD v4 |
X | g.18628559G>C | CA515471687 | CDKL5 | c.2685G>C (p.Pro895=) c.2808G>C (p.Pro936=) c.2757G>C (p.Pro919=) c.2676G>C (p.Pro892=) n.3060G>C | |
X | g.18628559G>T | CA515471684 | CDKL5 | c.2685G>T (p.Pro895=) c.2808G>T (p.Pro936=) c.2757G>T (p.Pro919=) c.2676G>T (p.Pro892=) n.3060G>T | |
X | g.18628560A>C | CA412368043 | CDKL5 | c.2686A>C (p.Lys896Gln) c.2809A>C (p.Lys937Gln) c.2758A>C (p.Lys920Gln) c.2677A>C (p.Lys893Gln) n.3061A>C | |
X | g.18628560A>G | CA412368046 | CDKL5 | c.2686A>G (p.Lys896Glu) c.2809A>G (p.Lys937Glu) c.2758A>G (p.Lys920Glu) c.2677A>G (p.Lys893Glu) n.3061A>G | |
X | g.18628560A>T | CA412368049 | CDKL5 | c.2686A>T (p.Lys896Ter) c.2809A>T (p.Lys937Ter) c.2758A>T (p.Lys920Ter) c.2677A>T (p.Lys893Ter) n.3061A>T | |
X | g.18628561A>C | CA412368054 | CDKL5 | c.2687A>C (p.Lys896Thr) c.2810A>C (p.Lys937Thr) c.2759A>C (p.Lys920Thr) c.2678A>C (p.Lys893Thr) n.3062A>C | |
X | g.18628561A>G | CA412368057 | CDKL5 | c.2687A>G (p.Lys896Arg) c.2810A>G (p.Lys937Arg) c.2759A>G (p.Lys920Arg) c.2678A>G (p.Lys893Arg) n.3062A>G | |
X | g.18628561A>T | CA412368056 | CDKL5 | c.2687A>T (p.Lys896Met) c.2810A>T (p.Lys937Met) c.2759A>T (p.Lys920Met) c.2678A>T (p.Lys893Met) n.3062A>T | |
X | g.18628562G>A | CA515471702 | CDKL5 | c.2688G>A (p.Lys896=) c.2811G>A (p.Lys937=) c.2760G>A (p.Lys920=) c.2679G>A (p.Lys893=) n.3063G>A | |
X | g.18628562G>C | CA412368058 | CDKL5 | c.2688G>C (p.Lys896Asn) c.2811G>C (p.Lys937Asn) c.2760G>C (p.Lys920Asn) c.2679G>C (p.Lys893Asn) n.3063G>C | |
X | g.18628562G= | CA2417982223 | CDKL5 | c.2688G= (p.Lys896=) c.2811G= (p.Lys937=) c.2760G= (p.Lys920=) c.2679G= (p.Lys893=) n.3063G= | |
X | g.18628562G>T | CA412368059 | CDKL5 | c.2688G>T (p.Lys896Asn) c.2811G>T (p.Lys937Asn) c.2760G>T (p.Lys920Asn) c.2679G>T (p.Lys893Asn) n.3063G>T | dbSNP |
X | g.18628563G>A | CA412368064 | CDKL5 | c.2689G>A (p.Gly897Ser) c.2812G>A (p.Gly938Ser) c.2761G>A (p.Gly921Ser) c.2680G>A (p.Gly894Ser) n.3064G>A | |
X | g.18628563G>C | CA412368065 | CDKL5 | c.2689G>C (p.Gly897Arg) c.2812G>C (p.Gly938Arg) c.2761G>C (p.Gly921Arg) c.2680G>C (p.Gly894Arg) n.3064G>C | |
X | g.18628563G>T | CA412368070 | CDKL5 | c.2689G>T (p.Gly897Cys) c.2812G>T (p.Gly938Cys) c.2761G>T (p.Gly921Cys) c.2680G>T (p.Gly894Cys) n.3064G>T | |
X | g.18628564G>A | CA412368071 | CDKL5 | c.2690G>A (p.Gly897Asp) c.2813G>A (p.Gly938Asp) c.2762G>A (p.Gly921Asp) c.2681G>A (p.Gly894Asp) n.3065G>A | |
X | g.18628564G>C | CA412368073 | CDKL5 | c.2690G>C (p.Gly897Ala) c.2813G>C (p.Gly938Ala) c.2762G>C (p.Gly921Ala) c.2681G>C (p.Gly894Ala) n.3065G>C | |
X | g.18628564G>T | CA412368076 | CDKL5 | c.2690G>T (p.Gly897Val) c.2813G>T (p.Gly938Val) c.2762G>T (p.Gly921Val) c.2681G>T (p.Gly894Val) n.3065G>T | |
X | g.18628565C>A | CA515471716 | CDKL5 | c.2691C>A (p.Gly897=) c.2814C>A (p.Gly938=) c.2763C>A (p.Gly921=) c.2682C>A (p.Gly894=) n.3066C>A | |
X | g.18628565C>G | CA515471718 | CDKL5 | c.2691C>G (p.Gly897=) c.2814C>G (p.Gly938=) c.2763C>G (p.Gly921=) c.2682C>G (p.Gly894=) n.3066C>G | |
X | g.18628565C>T | CA515471720 | CDKL5 | c.2691C>T (p.Gly897=) c.2814C>T (p.Gly938=) c.2763C>T (p.Gly921=) c.2682C>T (p.Gly894=) n.3066C>T | |
X | g.18628566A>C | CA515471724 | CDKL5 | c.2692A>C (p.Arg898=) c.2815A>C (p.Arg939=) c.2764A>C (p.Arg922=) c.2683A>C (p.Arg895=) n.3067A>C | |
X | g.18628566A>G | CA412368079 | CDKL5 | c.2692A>G (p.Arg898Gly) c.2815A>G (p.Arg939Gly) c.2764A>G (p.Arg922Gly) c.2683A>G (p.Arg895Gly) n.3067A>G | |
X | g.18628566A>T | CA412368084 | CDKL5 | c.2692A>T (p.Arg898Trp) c.2815A>T (p.Arg939Trp) c.2764A>T (p.Arg922Trp) c.2683A>T (p.Arg895Trp) n.3067A>T | |
X | g.18628567G>A | CA412368094 | CDKL5 | c.2693G>A (p.Arg898Lys) c.2816G>A (p.Arg939Lys) c.2765G>A (p.Arg922Lys) c.2684G>A (p.Arg895Lys) n.3068G>A | |
X | g.18628567G>C | CA412368097 | CDKL5 | c.2693G>C (p.Arg898Thr) c.2816G>C (p.Arg939Thr) c.2765G>C (p.Arg922Thr) c.2684G>C (p.Arg895Thr) n.3068G>C | |
X | g.18628567G>T | CA412368090 | CDKL5 | c.2693G>T (p.Arg898Met) c.2816G>T (p.Arg939Met) c.2765G>T (p.Arg922Met) c.2684G>T (p.Arg895Met) n.3068G>T | |
X | g.18628567_18628568del | CA2573158463 | CDKL5 | c.2693_2694del (p.Arg898ThrfsTer30) c.2816_2817del (p.Arg939ThrfsTer30) c.2693_2694del (p.Arg898ThrfsTer11) c.2765_2766del (p.Arg922ThrfsTer11) c.2684_2685del (p.Arg895ThrfsTer11) n.3068_3069del | ClinVar dbSNP |
X | g.18628568G>A | CA515471739 | CDKL5 | c.2694G>A (p.Arg898=) c.2817G>A (p.Arg939=) c.2766G>A (p.Arg922=) c.2685G>A (p.Arg895=) n.3069G>A | gnomAD v4 |
X | g.18628568G>C | CA412368101 | CDKL5 | c.2694G>C (p.Arg898Ser) c.2817G>C (p.Arg939Ser) c.2766G>C (p.Arg922Ser) c.2685G>C (p.Arg895Ser) n.3069G>C | |
X | g.18628568G>T | CA412368105 | CDKL5 | c.2694G>T (p.Arg898Ser) c.2817G>T (p.Arg939Ser) c.2766G>T (p.Arg922Ser) c.2685G>T (p.Arg895Ser) n.3069G>T | |
X | g.18628569C>A | CA412368112 | CDKL5 | c.2695C>A (p.Pro899Thr) c.2818C>A (p.Pro940Thr) c.2767C>A (p.Pro923Thr) c.2686C>A (p.Pro896Thr) n.3070C>A | |
X | g.18628569C>G | CA412368115 | CDKL5 | c.2695C>G (p.Pro899Ala) c.2818C>G (p.Pro940Ala) c.2767C>G (p.Pro923Ala) c.2686C>G (p.Pro896Ala) n.3070C>G | ClinVar gnomAD v4 |
X | g.18628569C>T | CA412368118 | CDKL5 | c.2695C>T (p.Pro899Ser) c.2818C>T (p.Pro940Ser) c.2767C>T (p.Pro923Ser) c.2686C>T (p.Pro896Ser) n.3070C>T | |
X | g.18628570C>A | CA412368127 | CDKL5 | c.2696C>A (p.Pro899Gln) c.2819C>A (p.Pro940Gln) c.2768C>A (p.Pro923Gln) c.2687C>A (p.Pro896Gln) n.3071C>A | ClinVar dbSNP |
X | g.18628570C>G | CA412368132 | CDKL5 | c.2696C>G (p.Pro899Arg) c.2819C>G (p.Pro940Arg) c.2768C>G (p.Pro923Arg) c.2687C>G (p.Pro896Arg) n.3071C>G | |
X | g.18628570C>T | CA412368144 | CDKL5 | c.2696C>T (p.Pro899Leu) c.2819C>T (p.Pro940Leu) c.2768C>T (p.Pro923Leu) c.2687C>T (p.Pro896Leu) n.3071C>T | gnomAD v4 |
X | g.18628571A>C | CA515471754 | CDKL5 | c.2697A>C (p.Pro899=) c.2820A>C (p.Pro940=) c.2769A>C (p.Pro923=) c.2688A>C (p.Pro896=) n.3072A>C | gnomAD v4 |
X | g.18628571A>G | CA515471756 | CDKL5 | c.2697A>G (p.Pro899=) c.2820A>G (p.Pro940=) c.2769A>G (p.Pro923=) c.2688A>G (p.Pro896=) n.3072A>G | |
X | g.18628571A>T | CA515471757 | CDKL5 | c.2697A>T (p.Pro899=) c.2820A>T (p.Pro940=) c.2769A>T (p.Pro923=) c.2688A>T (p.Pro896=) n.3072A>T | |
X | g.18628572G>A | CA412368152 | CDKL5 | c.2698G>A (p.Ala900Thr) c.2821G>A (p.Ala941Thr) c.2770G>A (p.Ala924Thr) c.2689G>A (p.Ala897Thr) n.3073G>A | |
X | g.18628572G>C | CA412368157 | CDKL5 | c.2698G>C (p.Ala900Pro) c.2821G>C (p.Ala941Pro) c.2770G>C (p.Ala924Pro) c.2689G>C (p.Ala897Pro) n.3073G>C | |
X | g.18628572G>T | CA412368162 | CDKL5 | c.2698G>T (p.Ala900Ser) c.2821G>T (p.Ala941Ser) c.2770G>T (p.Ala924Ser) c.2689G>T (p.Ala897Ser) n.3073G>T | gnomAD v4 |
X | g.18628573C>A | CA412368171 | CDKL5 | c.2699C>A (p.Ala900Asp) c.2822C>A (p.Ala941Asp) c.2771C>A (p.Ala924Asp) c.2690C>A (p.Ala897Asp) n.3074C>A | |
X | g.18628573C>G | CA412368174 | CDKL5 | c.2699C>G (p.Ala900Gly) c.2822C>G (p.Ala941Gly) c.2771C>G (p.Ala924Gly) c.2690C>G (p.Ala897Gly) n.3074C>G | |
X | g.18628573C>T | CA412368168 | CDKL5 | c.2699C>T (p.Ala900Val) c.2822C>T (p.Ala941Val) c.2771C>T (p.Ala924Val) c.2690C>T (p.Ala897Val) n.3074C>T | |
X | g.18628575dup | CA2695231356 | CDKL5 | c.2701dup (p.Leu901ProfsTer28) c.2824dup (p.Leu942ProfsTer28) c.2701dup (p.Leu901ProfsTer9) c.2773dup (p.Leu925ProfsTer9) c.2692dup (p.Leu898ProfsTer9) n.3076dup | |
X | g.18628574C>A | CA515471772 | CDKL5 | c.2700C>A (p.Ala900=) c.2823C>A (p.Ala941=) c.2772C>A (p.Ala924=) c.2691C>A (p.Ala897=) n.3075C>A | |
X | g.18628574C>G | CA515471774 | CDKL5 | c.2700C>G (p.Ala900=) c.2823C>G (p.Ala941=) c.2772C>G (p.Ala924=) c.2691C>G (p.Ala897=) n.3075C>G | |
X | g.18628574C>T | CA515471776 | CDKL5 | c.2700C>T (p.Ala900=) c.2823C>T (p.Ala941=) c.2772C>T (p.Ala924=) c.2691C>T (p.Ala897=) n.3075C>T | |
X | g.18628575C>A | CA412368180 | CDKL5 | c.2701C>A (p.Leu901Ile) c.2824C>A (p.Leu942Ile) c.2773C>A (p.Leu925Ile) c.2692C>A (p.Leu898Ile) n.3076C>A | |
X | g.18628575C>G | CA412368183 | CDKL5 | c.2701C>G (p.Leu901Val) c.2824C>G (p.Leu942Val) c.2773C>G (p.Leu925Val) c.2692C>G (p.Leu898Val) n.3076C>G | |
X | g.18628575C>T | CA412368187 | CDKL5 | c.2701C>T (p.Leu901Phe) c.2824C>T (p.Leu942Phe) c.2773C>T (p.Leu925Phe) c.2692C>T (p.Leu898Phe) n.3076C>T | |
X | g.18628576T>A | CA412368194 | CDKL5 | c.2702T>A (p.Leu901His) c.2825T>A (p.Leu942His) c.2774T>A (p.Leu925His) c.2693T>A (p.Leu898His) n.3077T>A | |
X | g.18628576T>C | CA412368197 | CDKL5 | c.2702T>C (p.Leu901Pro) c.2825T>C (p.Leu942Pro) c.2774T>C (p.Leu925Pro) c.2693T>C (p.Leu898Pro) n.3077T>C | |
X | g.18628576T>G | CA412368200 | CDKL5 | c.2702T>G (p.Leu901Arg) c.2825T>G (p.Leu942Arg) c.2774T>G (p.Leu925Arg) c.2693T>G (p.Leu898Arg) n.3077T>G | |
X | g.18628577C>A | CA515471786 | CDKL5 | c.2703C>A (p.Leu901=) c.2826C>A (p.Leu942=) c.2775C>A (p.Leu925=) c.2694C>A (p.Leu898=) n.3078C>A | |
X | g.18628577C= | CA2417982224 | CDKL5 | c.2703C= (p.Leu901=) c.2826C= (p.Leu942=) c.2775C= (p.Leu925=) c.2694C= (p.Leu898=) n.3078C= | |
X | g.18628577C>G | CA515471788 | CDKL5 | c.2703C>G (p.Leu901=) c.2826C>G (p.Leu942=) c.2775C>G (p.Leu925=) c.2694C>G (p.Leu898=) n.3078C>G | |
X | g.18628577C>T | CA515471790 | CDKL5 | c.2703C>T (p.Leu901=) c.2826C>T (p.Leu942=) c.2775C>T (p.Leu925=) c.2694C>T (p.Leu898=) n.3078C>T | dbSNP |
X | g.18628578C>A | CA327009072 | CDKL5 | c.2704C>A (p.Gln902Lys) c.2827C>A (p.Gln943Lys) c.2776C>A (p.Gln926Lys) c.2695C>A (p.Gln899Lys) n.3079C>A | ClinVar dbSNP |
X | g.18628578C= | CA2417982225 | CDKL5 | c.2704C= (p.Gln902=) c.2827C= (p.Gln943=) c.2776C= (p.Gln926=) c.2695C= (p.Gln899=) n.3079C= | |
X | g.18628578C>G | CA412368221 | CDKL5 | c.2704C>G (p.Gln902Glu) c.2827C>G (p.Gln943Glu) c.2776C>G (p.Gln926Glu) c.2695C>G (p.Gln899Glu) n.3079C>G | |
X | g.18628578C>T | CA199394 | CDKL5 | c.2704C>T (p.Gln902Ter) c.2827C>T (p.Gln943Ter) c.2776C>T (p.Gln926Ter) c.2695C>T (p.Gln899Ter) n.3079C>T | ClinVar dbSNP |
X | g.18628579A>C | CA412368228 | CDKL5 | c.2705A>C (p.Gln902Pro) c.2828A>C (p.Gln943Pro) c.2777A>C (p.Gln926Pro) c.2696A>C (p.Gln899Pro) n.3080A>C | |
X | g.18628579A>G | CA412368232 | CDKL5 | c.2705A>G (p.Gln902Arg) c.2828A>G (p.Gln943Arg) c.2777A>G (p.Gln926Arg) c.2696A>G (p.Gln899Arg) n.3080A>G | |
X | g.18628579A>T | CA412368236 | CDKL5 | c.2705A>T (p.Gln902Leu) c.2828A>T (p.Gln943Leu) c.2777A>T (p.Gln926Leu) c.2696A>T (p.Gln899Leu) n.3080A>T | |
X | g.18628580G>A | CA515471808 | CDKL5 | c.2706G>A (p.Gln902=) c.2829G>A (p.Gln943=) c.2778G>A (p.Gln926=) c.2697G>A (p.Gln899=) n.3081G>A | |
X | g.18628580G>C | CA412368242 | CDKL5 | c.2706G>C (p.Gln902His) c.2829G>C (p.Gln943His) c.2778G>C (p.Gln926His) c.2697G>C (p.Gln899His) n.3081G>C | |
X | g.18628580G>T | CA412368244 | CDKL5 | c.2706G>T (p.Gln902His) c.2829G>T (p.Gln943His) c.2778G>T (p.Gln926His) c.2697G>T (p.Gln899His) n.3081G>T | ClinVar |
X | g.18628581C>A | CA412368251 | CDKL5 | c.2707C>A (p.Leu903Met) c.2830C>A (p.Leu944Met) c.2779C>A (p.Leu927Met) c.2698C>A (p.Leu900Met) n.3082C>A | |
X | g.18628581C= | CA2417982226 | CDKL5 | c.2707C= (p.Leu903=) c.2830C= (p.Leu944=) c.2779C= (p.Leu927=) c.2698C= (p.Leu900=) n.3082C= | |
X | g.18628581C>G | CA412368254 | CDKL5 | c.2707C>G (p.Leu903Val) c.2830C>G (p.Leu944Val) c.2779C>G (p.Leu927Val) c.2698C>G (p.Leu900Val) n.3082C>G | |
X | g.18628581C>T | CA515471816 | CDKL5 | c.2707C>T (p.Leu903=) c.2830C>T (p.Leu944=) c.2779C>T (p.Leu927=) c.2698C>T (p.Leu900=) n.3082C>T | dbSNP |
X | g.18628582T>A | CA412368259 | CDKL5 | c.2708T>A (p.Leu903Gln) c.2831T>A (p.Leu944Gln) c.2780T>A (p.Leu927Gln) c.2699T>A (p.Leu900Gln) n.3083T>A | |
X | g.18628582T>C | CA412368263 | CDKL5 | c.2708T>C (p.Leu903Pro) c.2831T>C (p.Leu944Pro) c.2780T>C (p.Leu927Pro) c.2699T>C (p.Leu900Pro) n.3083T>C | |
X | g.18628582T>G | CA412368267 | CDKL5 | c.2708T>G (p.Leu903Arg) c.2831T>G (p.Leu944Arg) c.2780T>G (p.Leu927Arg) c.2699T>G (p.Leu900Arg) n.3083T>G | |
X | g.18628583G>A | CA515471826 | CDKL5 | c.2709G>A (p.Leu903=) c.2832G>A (p.Leu944=) c.2781G>A (p.Leu927=) c.2700G>A (p.Leu900=) n.3084G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18628583G>C | CA515471829 | CDKL5 | c.2709G>C (p.Leu903=) c.2832G>C (p.Leu944=) c.2781G>C (p.Leu927=) c.2700G>C (p.Leu900=) n.3084G>C | |
X | g.18628583G= | CA2417982227 | CDKL5 | c.2709G= (p.Leu903=) c.2832G= (p.Leu944=) c.2781G= (p.Leu927=) c.2700G= (p.Leu900=) n.3084G= | |
X | g.18628583G>T | CA515471830 | CDKL5 | c.2709G>T (p.Leu903=) c.2832G>T (p.Leu944=) c.2781G>T (p.Leu927=) c.2700G>T (p.Leu900=) n.3084G>T | |
X | g.18628584C>A | CA412368273 | CDKL5 | c.2710C>A (p.Pro904Thr) c.2833C>A (p.Pro945Thr) c.2782C>A (p.Pro928Thr) c.2701C>A (p.Pro901Thr) n.3085C>A | |
X | g.18628584C>G | CA412368277 | CDKL5 | c.2710C>G (p.Pro904Ala) c.2833C>G (p.Pro945Ala) c.2782C>G (p.Pro928Ala) c.2701C>G (p.Pro901Ala) n.3085C>G | |
X | g.18628584C>T | CA412368281 | CDKL5 | c.2710C>T (p.Pro904Ser) c.2833C>T (p.Pro945Ser) c.2782C>T (p.Pro928Ser) c.2701C>T (p.Pro901Ser) n.3085C>T | |
X | g.18628585del | CA2695231358 | CDKL5 | c.2711del (p.Pro904GlnfsTer13) c.2834del (p.Pro945GlnfsTer13) c.2711del (p.Pro904GlnfsTer23) c.2783del (p.Pro928GlnfsTer23) c.2702del (p.Pro901GlnfsTer23) n.3086del | |
X | g.18628585C>A | CA412368295 | CDKL5 | c.2711C>A (p.Pro904Gln) c.2834C>A (p.Pro945Gln) c.2783C>A (p.Pro928Gln) c.2702C>A (p.Pro901Gln) n.3086C>A | |
X | g.18628585C>G | CA412368290 | CDKL5 | c.2711C>G (p.Pro904Arg) c.2834C>G (p.Pro945Arg) c.2783C>G (p.Pro928Arg) c.2702C>G (p.Pro901Arg) n.3086C>G | |
X | g.18628585C>T | CA412368287 | CDKL5 | c.2711C>T (p.Pro904Leu) c.2834C>T (p.Pro945Leu) c.2783C>T (p.Pro928Leu) c.2702C>T (p.Pro901Leu) n.3086C>T | |
X | g.18628586A>C | CA515471842 | CDKL5 | c.2712A>C (p.Pro904=) c.2835A>C (p.Pro945=) c.2784A>C (p.Pro928=) c.2703A>C (p.Pro901=) n.3087A>C | |
X | g.18628586A>G | CA515471844 | CDKL5 | c.2712A>G (p.Pro904=) c.2835A>G (p.Pro945=) c.2784A>G (p.Pro928=) c.2703A>G (p.Pro901=) n.3087A>G | |
X | g.18628586A>T | CA515471846 | CDKL5 | c.2712A>T (p.Pro904=) c.2835A>T (p.Pro945=) c.2784A>T (p.Pro928=) c.2703A>T (p.Pro901=) n.3087A>T |