Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18619845A>G | CA2693223287 | CDKL5 | c.2277-22A>G (n.2277-22A>G) c.2226-22A>G (n.2226-22A>G) c.2145-22A>G (n.2145-22A>G) n.2529-22A>G | gnomAD v4 |
X | g.18619851dup | CA2738437347 | CDKL5 | c.2277-16dup (n.2277-16dup) c.2226-16dup (n.2226-16dup) c.2145-16dup (n.2145-16dup) n.2529-16dup | dbSNP |
X | g.18619848A>T | CA2693223288 | CDKL5 | c.2277-19A>T (n.2277-19A>T) c.2226-19A>T (n.2226-19A>T) c.2145-19A>T (n.2145-19A>T) n.2529-19A>T | gnomAD v4 |
X | g.18619849A>G | CA2693223289 | CDKL5 | c.2277-18A>G (n.2277-18A>G) c.2226-18A>G (n.2226-18A>G) c.2145-18A>G (n.2145-18A>G) n.2529-18A>G | gnomAD v4 |
X | g.18619850A= | CA2417979405 | CDKL5 | c.2277-17A= (n.2277-17A=) c.2226-17A= (n.2226-17A=) c.2145-17A= (n.2145-17A=) n.2529-17A= | |
X | g.18619850A>C | CA10360526 | CDKL5 | c.2277-17A>C (n.2277-17A>C) c.2226-17A>C (n.2226-17A>C) c.2145-17A>C (n.2145-17A>C) n.2529-17A>C | dbSNP ExAC gnomAD v2 |
X | g.18619850A>G | CA2693223290 | CDKL5 | c.2277-17A>G (n.2277-17A>G) c.2226-17A>G (n.2226-17A>G) c.2145-17A>G (n.2145-17A>G) n.2529-17A>G | gnomAD v4 |
X | g.18619851A= | CA2417979406 | CDKL5 | c.2277-16A= (n.2277-16A=) c.2226-16A= (n.2226-16A=) c.2145-16A= (n.2145-16A=) n.2529-16A= | |
X | g.18619851A>G | CA2417979407 | CDKL5 | c.2277-16A>G (n.2277-16A>G) c.2226-16A>G (n.2226-16A>G) c.2145-16A>G (n.2145-16A>G) n.2529-16A>G | dbSNP |
X | g.18619853G>A | CA2417979409 | CDKL5 | c.2277-14G>A (n.2277-14G>A) c.2226-14G>A (n.2226-14G>A) c.2145-14G>A (n.2145-14G>A) n.2529-14G>A | dbSNP |
X | g.18619853G= | CA2417979408 | CDKL5 | c.2277-14G= (n.2277-14G=) c.2226-14G= (n.2226-14G=) c.2145-14G= (n.2145-14G=) n.2529-14G= | |
X | g.18619854T>A | CA2499226525 | CDKL5 | c.2277-13T>A (n.2277-13T>A) c.2226-13T>A (n.2226-13T>A) c.2145-13T>A (n.2145-13T>A) n.2529-13T>A | ClinVar dbSNP |
X | g.18619854T>C | CA640510413 | CDKL5 | c.2277-13T>C (n.2277-13T>C) c.2226-13T>C (n.2226-13T>C) c.2145-13T>C (n.2145-13T>C) n.2529-13T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18619854T= | CA2417979410 | CDKL5 | c.2277-13T= (n.2277-13T=) c.2226-13T= (n.2226-13T=) c.2145-13T= (n.2145-13T=) n.2529-13T= | |
X | g.18619855C>A | CA2693223292 | CDKL5 | c.2277-12C>A (n.2277-12C>A) c.2226-12C>A (n.2226-12C>A) c.2145-12C>A (n.2145-12C>A) n.2529-12C>A | gnomAD v4 |
X | g.18619855C>T | CA2693223291 | CDKL5 | c.2277-12C>T (n.2277-12C>T) c.2226-12C>T (n.2226-12C>T) c.2145-12C>T (n.2145-12C>T) n.2529-12C>T | gnomAD v4 |
X | g.18619856T>C | CA640510415 | CDKL5 | c.2277-11T>C (n.2277-11T>C) c.2226-11T>C (n.2226-11T>C) c.2145-11T>C (n.2145-11T>C) n.2529-11T>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18619856T= | CA2417979411 | CDKL5 | c.2277-11T= (n.2277-11T=) c.2226-11T= (n.2226-11T=) c.2145-11T= (n.2145-11T=) n.2529-11T= | |
X | g.18619857T>C | CA2693223293 | CDKL5 | c.2277-10T>C (n.2277-10T>C) c.2226-10T>C (n.2226-10T>C) c.2145-10T>C (n.2145-10T>C) n.2529-10T>C | gnomAD v4 |
X | g.18619858C>A | CA2693223294 | CDKL5 | c.2277-9C>A (n.2277-9C>A) c.2226-9C>A (n.2226-9C>A) c.2145-9C>A (n.2145-9C>A) n.2529-9C>A | gnomAD v4 |
X | g.18619859T>C | CA640510416 | CDKL5 | c.2277-8T>C (n.2277-8T>C) c.2226-8T>C (n.2226-8T>C) c.2145-8T>C (n.2145-8T>C) n.2529-8T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18619859T= | CA2417979412 | CDKL5 | c.2277-8T= (n.2277-8T=) c.2226-8T= (n.2226-8T=) c.2145-8T= (n.2145-8T=) n.2529-8T= | |
X | g.18619860C>A | CA2693223295 | CDKL5 | c.2277-7C>A (n.2277-7C>A) c.2226-7C>A (n.2226-7C>A) c.2145-7C>A (n.2145-7C>A) n.2529-7C>A | gnomAD v4 |
X | g.18619860C= | CA2417979413 | CDKL5 | c.2277-7C= (n.2277-7C=) c.2226-7C= (n.2226-7C=) c.2145-7C= (n.2145-7C=) n.2529-7C= | |
X | g.18619860C>T | CA640510418 | CDKL5 | c.2277-7C>T (n.2277-7C>T) c.2226-7C>T (n.2226-7C>T) c.2145-7C>T (n.2145-7C>T) n.2529-7C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18619861A= | CA2417979414 | CDKL5 | c.2277-6A= (n.2277-6A=) c.2226-6A= (n.2226-6A=) c.2145-6A= (n.2145-6A=) n.2529-6A= | |
X | g.18619861A>G | CA640510420 | CDKL5 | c.2277-6A>G (n.2277-6A>G) c.2226-6A>G (n.2226-6A>G) c.2145-6A>G (n.2145-6A>G) n.2529-6A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18619862T>C | CA2693223296 | CDKL5 | c.2277-5T>C (n.2277-5T>C) c.2226-5T>C (n.2226-5T>C) c.2145-5T>C (n.2145-5T>C) n.2529-5T>C | gnomAD v4 |
X | g.18619864del | CA2542854795 | CDKL5 | c.2277-3del (n.2277-3del) c.2226-3del (n.2226-3del) c.2145-3del (n.2145-3del) n.2529-3del | gnomAD v4 |
X | g.18619863T>C | CA16621284 | CDKL5 | c.2277-4T>C (n.2277-4T>C) c.2226-4T>C (n.2226-4T>C) c.2145-4T>C (n.2145-4T>C) n.2529-4T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18619863T= | CA2417979415 | CDKL5 | c.2277-4T= (n.2277-4T=) c.2226-4T= (n.2226-4T=) c.2145-4T= (n.2145-4T=) n.2529-4T= | |
X | g.18619864T>C | CA2693223297 | CDKL5 | c.2277-3T>C (n.2277-3T>C) c.2226-3T>C (n.2226-3T>C) c.2145-3T>C (n.2145-3T>C) n.2529-3T>C | gnomAD v4 |
X | g.18619865A= | CA2417979416 | CDKL5 | c.2277-2A= (n.2277-2A=) c.2226-2A= (n.2226-2A=) c.2145-2A= (n.2145-2A=) n.2529-2A= | |
X | g.18619865A>C | CA412363035 | CDKL5 | c.2277-2A>C (n.2277-2A>C) c.2226-2A>C (n.2226-2A>C) c.2145-2A>C (n.2145-2A>C) n.2529-2A>C | |
X | g.18619865A>G | CA199389 | CDKL5 | c.2277-2A>G (n.2277-2A>G) c.2226-2A>G (n.2226-2A>G) c.2145-2A>G (n.2145-2A>G) n.2529-2A>G | ClinVar dbSNP gnomAD v4 |
X | g.18619865A>T | CA412363045 | CDKL5 | c.2277-2A>T (n.2277-2A>T) c.2226-2A>T (n.2226-2A>T) c.2145-2A>T (n.2145-2A>T) n.2529-2A>T | gnomAD v4 |
X | g.18619866G>A | CA412363051 | CDKL5 | c.2277-1G>A (n.2277-1G>A) c.2226-1G>A (n.2226-1G>A) c.2145-1G>A (n.2145-1G>A) n.2529-1G>A | |
X | g.18619866G>C | CA412363054 | CDKL5 | c.2277-1G>C (n.2277-1G>C) c.2226-1G>C (n.2226-1G>C) c.2145-1G>C (n.2145-1G>C) n.2529-1G>C | |
X | g.18619866G>T | CA412363060 | CDKL5 | c.2277-1G>T (n.2277-1G>T) c.2226-1G>T (n.2226-1G>T) c.2145-1G>T (n.2145-1G>T) n.2529-1G>T | |
X | g.18619867G>A | CA412363064 | CDKL5 | c.2277G>A (p.Trp759Ter) c.2226G>A (p.Trp742Ter) c.2145G>A (p.Trp715Ter) n.2529G>A | ClinVar |
X | g.18619867G>C | CA412363069 | CDKL5 | c.2277G>C (p.Trp759Cys) c.2226G>C (p.Trp742Cys) c.2145G>C (p.Trp715Cys) n.2529G>C | |
X | g.18619867G>T | CA412363083 | CDKL5 | c.2277G>T (p.Trp759Cys) c.2226G>T (p.Trp742Cys) c.2145G>T (p.Trp715Cys) n.2529G>T | |
X | g.18619868A>C | CA412363087 | CDKL5 | c.2278A>C (p.Lys760Gln) c.2227A>C (p.Lys743Gln) c.2146A>C (p.Lys716Gln) n.2530A>C | |
X | g.18619868A>G | CA412363091 | CDKL5 | c.2278A>G (p.Lys760Glu) c.2227A>G (p.Lys743Glu) c.2146A>G (p.Lys716Glu) n.2530A>G | gnomAD v4 |
X | g.18619868A>T | CA412363101 | CDKL5 | c.2278A>T (p.Lys760Ter) c.2227A>T (p.Lys743Ter) c.2146A>T (p.Lys716Ter) n.2530A>T | |
X | g.18619871del | CA2693223298 | CDKL5 | c.2281del (p.Ser761ValfsTer23) c.2230del (p.Ser744ValfsTer23) c.2149del (p.Ser717ValfsTer23) n.2533del | gnomAD v4 |
X | g.18619869A= | CA2417979417 | CDKL5 | c.2279A= (p.Lys760=) c.2228A= (p.Lys743=) c.2147A= (p.Lys716=) n.2531A= | |
X | g.18619869A>C | CA412363112 | CDKL5 | c.2279A>C (p.Lys760Thr) c.2228A>C (p.Lys743Thr) c.2147A>C (p.Lys716Thr) n.2531A>C | |
X | g.18619869A>G | CA412363109 | CDKL5 | c.2279A>G (p.Lys760Arg) c.2228A>G (p.Lys743Arg) c.2147A>G (p.Lys716Arg) n.2531A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619869A>T | CA412363106 | CDKL5 | c.2279A>T (p.Lys760Ile) c.2228A>T (p.Lys743Ile) c.2147A>T (p.Lys716Ile) n.2531A>T | |
X | g.18619870A>C | CA412363130 | CDKL5 | c.2280A>C (p.Lys760Asn) c.2229A>C (p.Lys743Asn) c.2148A>C (p.Lys716Asn) n.2532A>C | |
X | g.18619870A>G | CA515470224 | CDKL5 | c.2280A>G (p.Lys760=) c.2229A>G (p.Lys743=) c.2148A>G (p.Lys716=) n.2532A>G | gnomAD v4 |
X | g.18619870A>T | CA412363131 | CDKL5 | c.2280A>T (p.Lys760Asn) c.2229A>T (p.Lys743Asn) c.2148A>T (p.Lys716Asn) n.2532A>T | |
X | g.18619871A>C | CA412363134 | CDKL5 | c.2281A>C (p.Ser761Arg) c.2230A>C (p.Ser744Arg) c.2149A>C (p.Ser717Arg) n.2533A>C | |
X | g.18619871A>G | CA412363137 | CDKL5 | c.2281A>G (p.Ser761Gly) c.2230A>G (p.Ser744Gly) c.2149A>G (p.Ser717Gly) n.2533A>G | |
X | g.18619871A>T | CA412363138 | CDKL5 | c.2281A>T (p.Ser761Cys) c.2230A>T (p.Ser744Cys) c.2149A>T (p.Ser717Cys) n.2533A>T | |
X | g.18619872G>A | CA412363141 | CDKL5 | c.2282G>A (p.Ser761Asn) c.2231G>A (p.Ser744Asn) c.2150G>A (p.Ser717Asn) n.2534G>A | |
X | g.18619872G>C | CA412363144 | CDKL5 | c.2282G>C (p.Ser761Thr) c.2231G>C (p.Ser744Thr) c.2150G>C (p.Ser717Thr) n.2534G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619872G= | CA2417979418 | CDKL5 | c.2282G= (p.Ser761=) c.2231G= (p.Ser744=) c.2150G= (p.Ser717=) n.2534G= | |
X | g.18619872G>T | CA412363150 | CDKL5 | c.2282G>T (p.Ser761Ile) c.2231G>T (p.Ser744Ile) c.2150G>T (p.Ser717Ile) n.2534G>T | |
X | g.18619873T>A | CA412363154 | CDKL5 | c.2283T>A (p.Ser761Arg) c.2232T>A (p.Ser744Arg) c.2151T>A (p.Ser717Arg) n.2535T>A | |
X | g.18619873T>C | CA515470225 | CDKL5 | c.2283T>C (p.Ser761=) c.2232T>C (p.Ser744=) c.2151T>C (p.Ser717=) n.2535T>C | |
X | g.18619873T>G | CA412363159 | CDKL5 | c.2283T>G (p.Ser761Arg) c.2232T>G (p.Ser744Arg) c.2151T>G (p.Ser717Arg) n.2535T>G | |
X | g.18619874C>A | CA412363171 | CDKL5 | c.2284C>A (p.Pro762Thr) c.2233C>A (p.Pro745Thr) c.2152C>A (p.Pro718Thr) n.2536C>A | gnomAD v4 |
X | g.18619874C>G | CA412363176 | CDKL5 | c.2284C>G (p.Pro762Ala) c.2233C>G (p.Pro745Ala) c.2152C>G (p.Pro718Ala) n.2536C>G | |
X | g.18619874C>T | CA412363179 | CDKL5 | c.2284C>T (p.Pro762Ser) c.2233C>T (p.Pro745Ser) c.2152C>T (p.Pro718Ser) n.2536C>T | gnomAD v4 |
X | g.18619874_18619877del | CA2500192229 | CDKL5 | c.2284_2287del (p.Pro762LysfsTer21) c.2233_2236del (p.Pro745LysfsTer21) c.2152_2155del (p.Pro718LysfsTer21) n.2536_2539del | |
X | g.18619875C>A | CA412363206 | CDKL5 | c.2285C>A (p.Pro762His) c.2234C>A (p.Pro745His) c.2153C>A (p.Pro718His) n.2537C>A | gnomAD v4 |
X | g.18619875C= | CA2417979419 | CDKL5 | c.2285C= (p.Pro762=) c.2234C= (p.Pro745=) c.2153C= (p.Pro718=) n.2537C= | |
X | g.18619875C>G | CA412363198 | CDKL5 | c.2285C>G (p.Pro762Arg) c.2234C>G (p.Pro745Arg) c.2153C>G (p.Pro718Arg) n.2537C>G | |
X | g.18619875C>T | CA412363192 | CDKL5 | c.2285C>T (p.Pro762Leu) c.2234C>T (p.Pro745Leu) c.2153C>T (p.Pro718Leu) n.2537C>T | dbSNP gnomAD v4 |
X | g.18619876T>A | CA515470226 | CDKL5 | c.2286T>A (p.Pro762=) c.2235T>A (p.Pro745=) c.2154T>A (p.Pro718=) n.2538T>A | |
X | g.18619876T>C | CA515470228 | CDKL5 | c.2286T>C (p.Pro762=) c.2235T>C (p.Pro745=) c.2154T>C (p.Pro718=) n.2538T>C | gnomAD v4 |
X | g.18619876T>G | CA515470227 | CDKL5 | c.2286T>G (p.Pro762=) c.2235T>G (p.Pro745=) c.2154T>G (p.Pro718=) n.2538T>G | |
X | g.18619877G>A | CA412363212 | CDKL5 | c.2287G>A (p.Glu763Lys) c.2236G>A (p.Glu746Lys) c.2155G>A (p.Glu719Lys) n.2539G>A | gnomAD v4 |
X | g.18619877G>C | CA412363210 | CDKL5 | c.2287G>C (p.Glu763Gln) c.2236G>C (p.Glu746Gln) c.2155G>C (p.Glu719Gln) n.2539G>C | |
X | g.18619877G>T | CA412363211 | CDKL5 | c.2287G>T (p.Glu763Ter) c.2236G>T (p.Glu746Ter) c.2155G>T (p.Glu719Ter) n.2539G>T | |
X | g.18619878A>C | CA412363213 | CDKL5 | c.2288A>C (p.Glu763Ala) c.2237A>C (p.Glu746Ala) c.2156A>C (p.Glu719Ala) n.2540A>C | |
X | g.18619878A>G | CA412363216 | CDKL5 | c.2288A>G (p.Glu763Gly) c.2237A>G (p.Glu746Gly) c.2156A>G (p.Glu719Gly) n.2540A>G | gnomAD v4 |
X | g.18619878A>T | CA412363217 | CDKL5 | c.2288A>T (p.Glu763Val) c.2237A>T (p.Glu746Val) c.2156A>T (p.Glu719Val) n.2540A>T | |
X | g.18619879_18619881dup | CA2519742943 | CDKL5 | c.2289_2291dup (p.Glu763_Asn764insLys) c.2238_2240dup (p.Glu746_Asn747insLys) c.2157_2159dup (p.Glu719_Asn720insLys) n.2541_2543dup | |
X | g.18619879A>C | CA412363222 | CDKL5 | c.2289A>C (p.Glu763Asp) c.2238A>C (p.Glu746Asp) c.2157A>C (p.Glu719Asp) n.2541A>C | gnomAD v4 |
X | g.18619879A>G | CA515470229 | CDKL5 | c.2289A>G (p.Glu763=) c.2238A>G (p.Glu746=) c.2157A>G (p.Glu719=) n.2541A>G | |
X | g.18619879A>T | CA412363232 | CDKL5 | c.2289A>T (p.Glu763Asp) c.2238A>T (p.Glu746Asp) c.2157A>T (p.Glu719Asp) n.2541A>T | |
X | g.18619880A>C | CA412363239 | CDKL5 | c.2290A>C (p.Asn764His) c.2239A>C (p.Asn747His) c.2158A>C (p.Asn720His) n.2542A>C | |
X | g.18619880A>G | CA412363236 | CDKL5 | c.2290A>G (p.Asn764Asp) c.2239A>G (p.Asn747Asp) c.2158A>G (p.Asn720Asp) n.2542A>G | |
X | g.18619880A>T | CA412363237 | CDKL5 | c.2290A>T (p.Asn764Tyr) c.2239A>T (p.Asn747Tyr) c.2158A>T (p.Asn720Tyr) n.2542A>T | |
X | g.18619881A>C | CA412363242 | CDKL5 | c.2291A>C (p.Asn764Thr) c.2240A>C (p.Asn747Thr) c.2159A>C (p.Asn720Thr) n.2543A>C | |
X | g.18619881A>G | CA412363245 | CDKL5 | c.2291A>G (p.Asn764Ser) c.2240A>G (p.Asn747Ser) c.2159A>G (p.Asn720Ser) n.2543A>G | |
X | g.18619881A>T | CA412363248 | CDKL5 | c.2291A>T (p.Asn764Ile) c.2240A>T (p.Asn747Ile) c.2159A>T (p.Asn720Ile) n.2543A>T | |
X | g.18619882T>A | CA412363251 | CDKL5 | c.2292T>A (p.Asn764Lys) c.2241T>A (p.Asn747Lys) c.2160T>A (p.Asn720Lys) n.2544T>A | |
X | g.18619882T>C | CA515470230 | CDKL5 | c.2292T>C (p.Asn764=) c.2241T>C (p.Asn747=) c.2160T>C (p.Asn720=) n.2544T>C | dbSNP |
X | g.18619882T>G | CA412363254 | CDKL5 | c.2292T>G (p.Asn764Lys) c.2241T>G (p.Asn747Lys) c.2160T>G (p.Asn720Lys) n.2544T>G | |
X | g.18619882T= | CA2417979420 | CDKL5 | c.2292T= (p.Asn764=) c.2241T= (p.Asn747=) c.2160T= (p.Asn720=) n.2544T= | |
X | g.18619883A>C | CA412363269 | CDKL5 | c.2293A>C (p.Ile765Leu) c.2242A>C (p.Ile748Leu) c.2161A>C (p.Ile721Leu) n.2545A>C | |
X | g.18619883A>G | CA412363272 | CDKL5 | c.2293A>G (p.Ile765Val) c.2242A>G (p.Ile748Val) c.2161A>G (p.Ile721Val) n.2545A>G | |
X | g.18619883A>T | CA412363270 | CDKL5 | c.2293A>T (p.Ile765Phe) c.2242A>T (p.Ile748Phe) c.2161A>T (p.Ile721Phe) n.2545A>T | |
X | g.18619884T>A | CA412363275 | CDKL5 | c.2294T>A (p.Ile765Asn) c.2243T>A (p.Ile748Asn) c.2162T>A (p.Ile721Asn) n.2546T>A | |
X | g.18619884T>C | CA412363278 | CDKL5 | c.2294T>C (p.Ile765Thr) c.2243T>C (p.Ile748Thr) c.2162T>C (p.Ile721Thr) n.2546T>C | |
X | g.18619884T>G | CA412363282 | CDKL5 | c.2294T>G (p.Ile765Ser) c.2243T>G (p.Ile748Ser) c.2162T>G (p.Ile721Ser) n.2546T>G | |
X | g.18619885del | CA2693223299 | CDKL5 | c.2295del (p.Ser766ValfsTer18) c.2244del (p.Ser749ValfsTer18) c.2163del (p.Ser722ValfsTer18) n.2547del | gnomAD v4 |
X | g.18619885T>A | CA515470232 | CDKL5 | c.2295T>A (p.Ile765=) c.2244T>A (p.Ile748=) c.2163T>A (p.Ile721=) n.2547T>A | |
X | g.18619885T>C | CA515470233 | CDKL5 | c.2295T>C (p.Ile765=) c.2244T>C (p.Ile748=) c.2163T>C (p.Ile721=) n.2547T>C | |
X | g.18619885T>G | CA412363286 | CDKL5 | c.2295T>G (p.Ile765Met) c.2244T>G (p.Ile748Met) c.2163T>G (p.Ile721Met) n.2547T>G | |
X | g.18619886A= | CA2417979421 | CDKL5 | c.2296A= (p.Ser766=) c.2245A= (p.Ser749=) c.2164A= (p.Ser722=) n.2548A= | |
X | g.18619886A>C | CA412363290 | CDKL5 | c.2296A>C (p.Ser766Arg) c.2245A>C (p.Ser749Arg) c.2164A>C (p.Ser722Arg) n.2548A>C | |
X | g.18619886A>G | CA412363292 | CDKL5 | c.2296A>G (p.Ser766Gly) c.2245A>G (p.Ser749Gly) c.2164A>G (p.Ser722Gly) n.2548A>G | COSMIC |
X | g.18619886A>T | CA412363296 | CDKL5 | c.2296A>T (p.Ser766Cys) c.2245A>T (p.Ser749Cys) c.2164A>T (p.Ser722Cys) n.2548A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18619886_18619887insACA | CA2819902195 | CDKL5 | c.2296_2297insACA (p.Ile765_Ser766insAsn) c.2245_2246insACA (p.Ile748_Ser749insAsn) c.2164_2165insACA (p.Ile721_Ser722insAsn) n.2548_2549insACA | |
X | g.18619887G>A | CA412363300 | CDKL5 | c.2297G>A (p.Ser766Asn) c.2246G>A (p.Ser749Asn) c.2165G>A (p.Ser722Asn) n.2549G>A | ClinVar |
X | g.18619887G>C | CA412363301 | CDKL5 | c.2297G>C (p.Ser766Thr) c.2246G>C (p.Ser749Thr) c.2165G>C (p.Ser722Thr) n.2549G>C | |
X | g.18619887G>T | CA412363302 | CDKL5 | c.2297G>T (p.Ser766Ile) c.2246G>T (p.Ser749Ile) c.2165G>T (p.Ser722Ile) n.2549G>T | |
X | g.18619888T>A | CA412363303 | CDKL5 | c.2298T>A (p.Ser766Arg) c.2247T>A (p.Ser749Arg) c.2166T>A (p.Ser722Arg) n.2550T>A | |
X | g.18619888T>C | CA515470234 | CDKL5 | c.2298T>C (p.Ser766=) c.2247T>C (p.Ser749=) c.2166T>C (p.Ser722=) n.2550T>C | |
X | g.18619888T>G | CA412363306 | CDKL5 | c.2298T>G (p.Ser766Arg) c.2247T>G (p.Ser749Arg) c.2166T>G (p.Ser722Arg) n.2550T>G | |
X | g.18619889del | CA2579563029 | CDKL5 | c.2299del (p.His767IlefsTer17) c.2248del (p.His750IlefsTer17) c.2167del (p.His723IlefsTer17) n.2551del | |
X | g.18619889C>A | CA412363309 | CDKL5 | c.2299C>A (p.His767Asn) c.2248C>A (p.His750Asn) c.2167C>A (p.His723Asn) n.2551C>A | gnomAD v4 |
X | g.18619889C>G | CA412363334 | CDKL5 | c.2299C>G (p.His767Asp) c.2248C>G (p.His750Asp) c.2167C>G (p.His723Asp) n.2551C>G | |
X | g.18619889C>T | CA412363312 | CDKL5 | c.2299C>T (p.His767Tyr) c.2248C>T (p.His750Tyr) c.2167C>T (p.His723Tyr) n.2551C>T | |
X | g.18619890A>C | CA412363340 | CDKL5 | c.2300A>C (p.His767Pro) c.2249A>C (p.His750Pro) c.2168A>C (p.His723Pro) n.2552A>C | |
X | g.18619890A>G | CA412363344 | CDKL5 | c.2300A>G (p.His767Arg) c.2249A>G (p.His750Arg) c.2168A>G (p.His723Arg) n.2552A>G | gnomAD v4 |
X | g.18619890A>T | CA412363347 | CDKL5 | c.2300A>T (p.His767Leu) c.2249A>T (p.His750Leu) c.2168A>T (p.His723Leu) n.2552A>T | |
X | g.18619891T>A | CA412363351 | CDKL5 | c.2301T>A (p.His767Gln) c.2250T>A (p.His750Gln) c.2169T>A (p.His723Gln) n.2553T>A | |
X | g.18619891T>C | CA515470235 | CDKL5 | c.2301T>C (p.His767=) c.2250T>C (p.His750=) c.2169T>C (p.His723=) n.2553T>C | gnomAD v4 |
X | g.18619891T>G | CA412363355 | CDKL5 | c.2301T>G (p.His767Gln) c.2250T>G (p.His750Gln) c.2169T>G (p.His723Gln) n.2553T>G | |
X | g.18619892T>A | CA412363364 | CDKL5 | c.2302T>A (p.Ser768Thr) c.2251T>A (p.Ser751Thr) c.2170T>A (p.Ser724Thr) n.2554T>A | gnomAD v4 |
X | g.18619892T>C | CA412363361 | CDKL5 | c.2302T>C (p.Ser768Pro) c.2251T>C (p.Ser751Pro) c.2170T>C (p.Ser724Pro) n.2554T>C | |
X | g.18619892T>G | CA412363358 | CDKL5 | c.2302T>G (p.Ser768Ala) c.2251T>G (p.Ser751Ala) c.2170T>G (p.Ser724Ala) n.2554T>G | |
X | g.18619893C>A | CA412363377 | CDKL5 | c.2303C>A (p.Ser768Ter) c.2252C>A (p.Ser751Ter) c.2171C>A (p.Ser724Ter) n.2555C>A | gnomAD v4 |
X | g.18619893C>G | CA412363379 | CDKL5 | c.2303C>G (p.Ser768Ter) c.2252C>G (p.Ser751Ter) c.2171C>G (p.Ser724Ter) n.2555C>G | |
X | g.18619893C>T | CA412363384 | CDKL5 | c.2303C>T (p.Ser768Leu) c.2252C>T (p.Ser751Leu) c.2171C>T (p.Ser724Leu) n.2555C>T | |
X | g.18619894A>C | CA515470236 | CDKL5 | c.2304A>C (p.Ser768=) c.2253A>C (p.Ser751=) c.2172A>C (p.Ser724=) n.2556A>C | |
X | g.18619894A>G | CA515470237 | CDKL5 | c.2304A>G (p.Ser768=) c.2253A>G (p.Ser751=) c.2172A>G (p.Ser724=) n.2556A>G | |
X | g.18619894A>T | CA515470238 | CDKL5 | c.2304A>T (p.Ser768=) c.2253A>T (p.Ser751=) c.2172A>T (p.Ser724=) n.2556A>T | |
X | g.18619895G>A | CA412363386 | CDKL5 | c.2305G>A (p.Glu769Lys) c.2254G>A (p.Glu752Lys) c.2173G>A (p.Glu725Lys) n.2557G>A | |
X | g.18619895G>C | CA412363388 | CDKL5 | c.2305G>C (p.Glu769Gln) c.2254G>C (p.Glu752Gln) c.2173G>C (p.Glu725Gln) n.2557G>C | |
X | g.18619895G= | CA2417979422 | CDKL5 | c.2305G= (p.Glu769=) c.2254G= (p.Glu752=) c.2173G= (p.Glu725=) n.2557G= | |
X | g.18619895G>T | CA10603551 | CDKL5 | c.2305G>T (p.Glu769Ter) c.2254G>T (p.Glu752Ter) c.2173G>T (p.Glu725Ter) n.2557G>T | ClinVar dbSNP |
X | g.18619895dup | CA2840004136 | CDKL5 | c.2305dup (p.Glu769GlyfsTer?) c.2254dup (p.Glu752GlyfsTer?) c.2173dup (p.Glu725GlyfsTer?) n.2557dup | |
X | g.18619896A>C | CA412363418 | CDKL5 | c.2306A>C (p.Glu769Ala) c.2255A>C (p.Glu752Ala) c.2174A>C (p.Glu725Ala) n.2558A>C | |
X | g.18619896A>G | CA412363413 | CDKL5 | c.2306A>G (p.Glu769Gly) c.2255A>G (p.Glu752Gly) c.2174A>G (p.Glu725Gly) n.2558A>G | |
X | g.18619896A>T | CA412363410 | CDKL5 | c.2306A>T (p.Glu769Val) c.2255A>T (p.Glu752Val) c.2174A>T (p.Glu725Val) n.2558A>T | |
X | g.18619897_18619899dup | CA412363398 | CDKL5 | c.2307_2309dup (p.Gln770_Leu771insGln) c.2256_2258dup (p.Gln753_Leu754insGln) c.2175_2177dup (p.Gln726_Leu727insGln) n.2559_2561dup | ClinVar dbSNP |
X | g.18619897G>A | CA515470239 | CDKL5 | c.2307G>A (p.Glu769=) c.2256G>A (p.Glu752=) c.2175G>A (p.Glu725=) n.2559G>A | gnomAD v4 |
X | g.18619897G>C | CA412363424 | CDKL5 | c.2307G>C (p.Glu769Asp) c.2256G>C (p.Glu752Asp) c.2175G>C (p.Glu725Asp) n.2559G>C | |
X | g.18619897G>T | CA412363428 | CDKL5 | c.2307G>T (p.Glu769Asp) c.2256G>T (p.Glu752Asp) c.2175G>T (p.Glu725Asp) n.2559G>T | |
X | g.18619898C>A | CA199333 | CDKL5 | c.2308C>A (p.Gln770Lys) c.2257C>A (p.Gln753Lys) c.2176C>A (p.Gln726Lys) n.2560C>A | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.18619898C= | CA2417979423 | CDKL5 | c.2308C= (p.Gln770=) c.2257C= (p.Gln753=) c.2176C= (p.Gln726=) n.2560C= | |
X | g.18619898C>G | CA412363439 | CDKL5 | c.2308C>G (p.Gln770Glu) c.2257C>G (p.Gln753Glu) c.2176C>G (p.Gln726Glu) n.2560C>G | |
X | g.18619898C>T | CA412363442 | CDKL5 | c.2308C>T (p.Gln770Ter) c.2257C>T (p.Gln753Ter) c.2176C>T (p.Gln726Ter) n.2560C>T | gnomAD v4 |
X | g.18619899A>C | CA412363448 | CDKL5 | c.2309A>C (p.Gln770Pro) c.2258A>C (p.Gln753Pro) c.2177A>C (p.Gln726Pro) n.2561A>C | |
X | g.18619899A>G | CA412363452 | CDKL5 | c.2309A>G (p.Gln770Arg) c.2258A>G (p.Gln753Arg) c.2177A>G (p.Gln726Arg) n.2561A>G | |
X | g.18619899A>T | CA412363454 | CDKL5 | c.2309A>T (p.Gln770Leu) c.2258A>T (p.Gln753Leu) c.2177A>T (p.Gln726Leu) n.2561A>T | |
X | g.18619900A>C | CA412363456 | CDKL5 | c.2310A>C (p.Gln770His) c.2259A>C (p.Gln753His) c.2178A>C (p.Gln726His) n.2562A>C | |
X | g.18619900A>G | CA515470240 | CDKL5 | c.2310A>G (p.Gln770=) c.2259A>G (p.Gln753=) c.2178A>G (p.Gln726=) n.2562A>G | |
X | g.18619900A>T | CA412363462 | CDKL5 | c.2310A>T (p.Gln770His) c.2259A>T (p.Gln753His) c.2178A>T (p.Gln726His) n.2562A>T | ClinVar dbSNP |
X | g.18619901C>A | CA412363464 | CDKL5 | c.2311C>A (p.Leu771Ile) c.2260C>A (p.Leu754Ile) c.2179C>A (p.Leu727Ile) n.2563C>A | |
X | g.18619901C>G | CA412363466 | CDKL5 | c.2311C>G (p.Leu771Val) c.2260C>G (p.Leu754Val) c.2179C>G (p.Leu727Val) n.2563C>G | |
X | g.18619901C>T | CA412363463 | CDKL5 | c.2311C>T (p.Leu771Phe) c.2260C>T (p.Leu754Phe) c.2179C>T (p.Leu727Phe) n.2563C>T | |
X | g.18619902T>A | CA412363470 | CDKL5 | c.2312T>A (p.Leu771His) c.2261T>A (p.Leu754His) c.2180T>A (p.Leu727His) n.2564T>A | COSMIC |
X | g.18619902T>C | CA412363473 | CDKL5 | c.2312T>C (p.Leu771Pro) c.2261T>C (p.Leu754Pro) c.2180T>C (p.Leu727Pro) n.2564T>C | |
X | g.18619902T>G | CA412363472 | CDKL5 | c.2312T>G (p.Leu771Arg) c.2261T>G (p.Leu754Arg) c.2180T>G (p.Leu727Arg) n.2564T>G | |
X | g.18619903C>A | CA515470241 | CDKL5 | c.2313C>A (p.Leu771=) c.2262C>A (p.Leu754=) c.2181C>A (p.Leu727=) n.2565C>A | |
X | g.18619903C>G | CA515470242 | CDKL5 | c.2313C>G (p.Leu771=) c.2262C>G (p.Leu754=) c.2181C>G (p.Leu727=) n.2565C>G | |
X | g.18619903C>T | CA515470243 | CDKL5 | c.2313C>T (p.Leu771=) c.2262C>T (p.Leu754=) c.2181C>T (p.Leu727=) n.2565C>T | |
X | g.18619904A>C | CA412363478 | CDKL5 | c.2314A>C (p.Lys772Gln) c.2263A>C (p.Lys755Gln) c.2182A>C (p.Lys728Gln) n.2566A>C | gnomAD v4 |
X | g.18619904A>G | CA412363480 | CDKL5 | c.2314A>G (p.Lys772Glu) c.2263A>G (p.Lys755Glu) c.2182A>G (p.Lys728Glu) n.2566A>G | gnomAD v4 |
X | g.18619904A>T | CA412363482 | CDKL5 | c.2314A>T (p.Lys772Ter) c.2263A>T (p.Lys755Ter) c.2182A>T (p.Lys728Ter) n.2566A>T | gnomAD v4 |
X | g.18619905del | CA2695231357 | CDKL5 | c.2315del (p.Lys772ArgfsTer12) c.2264del (p.Lys755ArgfsTer12) c.2183del (p.Lys728ArgfsTer12) n.2567del | |
X | g.18619905A>C | CA412363483 | CDKL5 | c.2315A>C (p.Lys772Thr) c.2264A>C (p.Lys755Thr) c.2183A>C (p.Lys728Thr) n.2567A>C | |
X | g.18619905A>G | CA412363484 | CDKL5 | c.2315A>G (p.Lys772Arg) c.2264A>G (p.Lys755Arg) c.2183A>G (p.Lys728Arg) n.2567A>G | gnomAD v4 |
X | g.18619905A>T | CA412363485 | CDKL5 | c.2315A>T (p.Lys772Met) c.2264A>T (p.Lys755Met) c.2183A>T (p.Lys728Met) n.2567A>T | |
X | g.18619906G>A | CA515470244 | CDKL5 | c.2316G>A (p.Lys772=) c.2265G>A (p.Lys755=) c.2184G>A (p.Lys728=) n.2568G>A | gnomAD v4 |
X | g.18619906G>C | CA412363489 | CDKL5 | c.2316G>C (p.Lys772Asn) c.2265G>C (p.Lys755Asn) c.2184G>C (p.Lys728Asn) n.2568G>C | |
X | g.18619906G>T | CA412363492 | CDKL5 | c.2316G>T (p.Lys772Asn) c.2265G>T (p.Lys755Asn) c.2184G>T (p.Lys728Asn) n.2568G>T | |
X | g.18619907G>A | CA412363495 | CDKL5 | c.2317G>A (p.Glu773Lys) c.2266G>A (p.Glu756Lys) c.2185G>A (p.Glu729Lys) n.2569G>A | COSMIC |
X | g.18619907G>C | CA412363501 | CDKL5 | c.2317G>C (p.Glu773Gln) c.2266G>C (p.Glu756Gln) c.2185G>C (p.Glu729Gln) n.2569G>C | |
X | g.18619907G>T | CA412363505 | CDKL5 | c.2317G>T (p.Glu773Ter) c.2266G>T (p.Glu756Ter) c.2185G>T (p.Glu729Ter) n.2569G>T | |
X | g.18619908A= | CA2417979424 | CDKL5 | c.2318A= (p.Glu773=) c.2267A= (p.Glu756=) c.2186A= (p.Glu729=) n.2570A= | |
X | g.18619908A>C | CA412363508 | CDKL5 | c.2318A>C (p.Glu773Ala) c.2267A>C (p.Glu756Ala) c.2186A>C (p.Glu729Ala) n.2570A>C | |
X | g.18619908A>G | CA412363511 | CDKL5 | c.2318A>G (p.Glu773Gly) c.2267A>G (p.Glu756Gly) c.2186A>G (p.Glu729Gly) n.2570A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18619908A>T | CA412363512 | CDKL5 | c.2318A>T (p.Glu773Val) c.2267A>T (p.Glu756Val) c.2186A>T (p.Glu729Val) n.2570A>T | |
X | g.18619912del | CA2579563030 | CDKL5 | c.2322del (p.Glu775ArgfsTer9) c.2271del (p.Glu758ArgfsTer9) c.2190del (p.Glu731ArgfsTer9) n.2574del | gnomAD v4 |
X | g.18619909A>C | CA412363513 | CDKL5 | c.2319A>C (p.Glu773Asp) c.2268A>C (p.Glu756Asp) c.2187A>C (p.Glu729Asp) n.2571A>C | |
X | g.18619909A>G | CA515470245 | CDKL5 | c.2319A>G (p.Glu773=) c.2268A>G (p.Glu756=) c.2187A>G (p.Glu729=) n.2571A>G | ClinVar |
X | g.18619909A>T | CA412363514 | CDKL5 | c.2319A>T (p.Glu773Asp) c.2268A>T (p.Glu756Asp) c.2187A>T (p.Glu729Asp) n.2571A>T | |
X | g.18619910A>C | CA412363517 | CDKL5 | c.2320A>C (p.Lys774Gln) c.2269A>C (p.Lys757Gln) c.2188A>C (p.Lys730Gln) n.2572A>C | |
X | g.18619910A>G | CA412363520 | CDKL5 | c.2320A>G (p.Lys774Glu) c.2269A>G (p.Lys757Glu) c.2188A>G (p.Lys730Glu) n.2572A>G | |
X | g.18619910A>T | CA412363521 | CDKL5 | c.2320A>T (p.Lys774Ter) c.2269A>T (p.Lys757Ter) c.2188A>T (p.Lys730Ter) n.2572A>T | |
X | g.18619911A>C | CA412363522 | CDKL5 | c.2321A>C (p.Lys774Thr) c.2270A>C (p.Lys757Thr) c.2189A>C (p.Lys730Thr) n.2573A>C | |
X | g.18619911A>G | CA412363523 | CDKL5 | c.2321A>G (p.Lys774Arg) c.2270A>G (p.Lys757Arg) c.2189A>G (p.Lys730Arg) n.2573A>G | |
X | g.18619911A>T | CA412363525 | CDKL5 | c.2321A>T (p.Lys774Ile) c.2270A>T (p.Lys757Ile) c.2189A>T (p.Lys730Ile) n.2573A>T | |
X | g.18619911_18619915delinsAAGAG | CA2417979425 | CDKL5 | c.2321_2325delinsAAGAG (p.Lys774=) c.2270_2274delinsAAGAG (p.Lys757=) c.2189_2193delinsAAGAG (p.Lys730=) n.2573_2577delinsAAGAG | |
X | g.18619912A>C | CA412363528 | CDKL5 | c.2322A>C (p.Lys774Asn) c.2271A>C (p.Lys757Asn) c.2190A>C (p.Lys730Asn) n.2574A>C | |
X | g.18619912A>G | CA515470248 | CDKL5 | c.2322A>G (p.Lys774=) c.2271A>G (p.Lys757=) c.2190A>G (p.Lys730=) n.2574A>G | gnomAD v4 |
X | g.18619912A>T | CA412363529 | CDKL5 | c.2322A>T (p.Lys774Asn) c.2271A>T (p.Lys757Asn) c.2190A>T (p.Lys730Asn) n.2574A>T | |
X | g.18619915_18619916del | CA170474 | CDKL5 | c.2325_2326del (p.Lys776AlafsTer24) c.2325_2326del (p.Lys776AlafsTer?) c.2274_2275del (p.Lys759AlafsTer?) c.2193_2194del (p.Lys732AlafsTer?) n.2577_2578del | ClinVar dbSNP |
X | g.18619913_18619916del | CA294688 | CDKL5 | c.2323_2326del (p.Glu775SerfsTer8) c.2272_2275del (p.Glu758SerfsTer8) c.2191_2194del (p.Glu731SerfsTer8) n.2575_2578del | ClinVar dbSNP |
X | g.18619913G>A | CA412363532 | CDKL5 | c.2323G>A (p.Glu775Lys) c.2272G>A (p.Glu758Lys) c.2191G>A (p.Glu731Lys) n.2575G>A | |
X | g.18619913G>C | CA412363536 | CDKL5 | c.2323G>C (p.Glu775Gln) c.2272G>C (p.Glu758Gln) c.2191G>C (p.Glu731Gln) n.2575G>C | |
X | g.18619913G>T | CA412363541 | CDKL5 | c.2323G>T (p.Glu775Ter) c.2272G>T (p.Glu758Ter) c.2191G>T (p.Glu731Ter) n.2575G>T | |
X | g.18619914A>C | CA412363544 | CDKL5 | c.2324A>C (p.Glu775Ala) c.2273A>C (p.Glu758Ala) c.2192A>C (p.Glu731Ala) n.2576A>C | |
X | g.18619914A>G | CA412363547 | CDKL5 | c.2324A>G (p.Glu775Gly) c.2273A>G (p.Glu758Gly) c.2192A>G (p.Glu731Gly) n.2576A>G | |
X | g.18619914A>T | CA412363549 | CDKL5 | c.2324A>T (p.Glu775Val) c.2273A>T (p.Glu758Val) c.2192A>T (p.Glu731Val) n.2576A>T | |
X | g.18619915G>A | CA515470252 | CDKL5 | c.2325G>A (p.Glu775=) c.2274G>A (p.Glu758=) c.2193G>A (p.Glu731=) n.2577G>A | gnomAD v4 |
X | g.18619915G>C | CA412363552 | CDKL5 | c.2325G>C (p.Glu775Asp) c.2274G>C (p.Glu758Asp) c.2193G>C (p.Glu731Asp) n.2577G>C | |
X | g.18619915G>T | CA412363553 | CDKL5 | c.2325G>T (p.Glu775Asp) c.2274G>T (p.Glu758Asp) c.2193G>T (p.Glu731Asp) n.2577G>T | |
X | g.18619915_18619917delinsGAA | CA2417979426 | CDKL5 | c.2325_2327delinsGAA (p.Glu775=) c.2274_2276delinsGAA (p.Glu758=) c.2193_2195delinsGAA (p.Glu731=) n.2577_2579delinsGAA | |
X | g.18619916A>C | CA412363554 | CDKL5 | c.2326A>C (p.Lys776Gln) c.2275A>C (p.Lys759Gln) c.2194A>C (p.Lys732Gln) n.2578A>C | |
X | g.18619916A>G | CA412363555 | CDKL5 | c.2326A>G (p.Lys776Glu) c.2275A>G (p.Lys759Glu) c.2194A>G (p.Lys732Glu) n.2578A>G | |
X | g.18619916A>T | CA412363558 | CDKL5 | c.2326A>T (p.Lys776Ter) c.2275A>T (p.Lys759Ter) c.2194A>T (p.Lys732Ter) n.2578A>T | |
X | g.18619916_18619917del | CA915950771 | CDKL5 | c.2326_2327del (p.Lys776AlafsTer24) c.2326_2327del (p.Lys776AlafsTer?) c.2275_2276del (p.Lys759AlafsTer?) c.2194_2195del (p.Lys732AlafsTer?) n.2578_2579del | ClinVar dbSNP |
X | g.18619917A>C | CA412363560 | CDKL5 | c.2327A>C (p.Lys776Thr) c.2276A>C (p.Lys759Thr) c.2195A>C (p.Lys732Thr) n.2579A>C | |
X | g.18619917A>G | CA412363563 | CDKL5 | c.2327A>G (p.Lys776Arg) c.2276A>G (p.Lys759Arg) c.2195A>G (p.Lys732Arg) n.2579A>G | |
X | g.18619917A>T | CA412363572 | CDKL5 | c.2327A>T (p.Lys776Met) c.2276A>T (p.Lys759Met) c.2195A>T (p.Lys732Met) n.2579A>T | COSMIC |
X | g.18619918G>A | CA515470256 | CDKL5 | c.2328G>A (p.Lys776=) c.2277G>A (p.Lys759=) c.2196G>A (p.Lys732=) n.2580G>A | |
X | g.18619918G>C | CA412363576 | CDKL5 | c.2328G>C (p.Lys776Asn) c.2277G>C (p.Lys759Asn) c.2196G>C (p.Lys732Asn) n.2580G>C | |
X | g.18619918G>T | CA412363579 | CDKL5 | c.2328G>T (p.Lys776Asn) c.2277G>T (p.Lys759Asn) c.2196G>T (p.Lys732Asn) n.2580G>T | |
X | g.18619919C>A | CA327007690 | CDKL5 | c.2329C>A (p.Gln777Lys) c.2278C>A (p.Gln760Lys) c.2197C>A (p.Gln733Lys) n.2581C>A | dbSNP |
X | g.18619919C= | CA2417979427 | CDKL5 | c.2329C= (p.Gln777=) c.2278C= (p.Gln760=) c.2197C= (p.Gln733=) n.2581C= | |
X | g.18619919C>G | CA412363583 | CDKL5 | c.2329C>G (p.Gln777Glu) c.2278C>G (p.Gln760Glu) c.2197C>G (p.Gln733Glu) n.2581C>G | |
X | g.18619919C>T | CA412363586 | CDKL5 | c.2329C>T (p.Gln777Ter) c.2278C>T (p.Gln760Ter) c.2197C>T (p.Gln733Ter) n.2581C>T | |
X | g.18619920A>C | CA412363598 | CDKL5 | c.2330A>C (p.Gln777Pro) c.2279A>C (p.Gln760Pro) c.2198A>C (p.Gln733Pro) n.2582A>C | |
X | g.18619920A>G | CA412363602 | CDKL5 | c.2330A>G (p.Gln777Arg) c.2279A>G (p.Gln760Arg) c.2198A>G (p.Gln733Arg) n.2582A>G | |
X | g.18619920A>T | CA412363605 | CDKL5 | c.2330A>T (p.Gln777Leu) c.2279A>T (p.Gln760Leu) c.2198A>T (p.Gln733Leu) n.2582A>T | |
X | g.18619921A>C | CA412363609 | CDKL5 | c.2331A>C (p.Gln777His) c.2280A>C (p.Gln760His) c.2199A>C (p.Gln733His) n.2583A>C | |
X | g.18619921A>G | CA515470258 | CDKL5 | c.2331A>G (p.Gln777=) c.2280A>G (p.Gln760=) c.2199A>G (p.Gln733=) n.2583A>G | |
X | g.18619921A>T | CA412363612 | CDKL5 | c.2331A>T (p.Gln777His) c.2280A>T (p.Gln760His) c.2199A>T (p.Gln733His) n.2583A>T | |
X | g.18619922G>A | CA412363615 | CDKL5 | c.2332G>A (p.Gly778Arg) c.2281G>A (p.Gly761Arg) c.2200G>A (p.Gly734Arg) n.2584G>A | ClinVar |
X | g.18619922G>C | CA412363622 | CDKL5 | c.2332G>C (p.Gly778Arg) c.2281G>C (p.Gly761Arg) c.2200G>C (p.Gly734Arg) n.2584G>C | |
X | g.18619922G>T | CA412363625 | CDKL5 | c.2332G>T (p.Gly778Ter) c.2281G>T (p.Gly761Ter) c.2200G>T (p.Gly734Ter) n.2584G>T | COSMIC |
X | g.18619923G>A | CA412363636 | CDKL5 | c.2333G>A (p.Gly778Glu) c.2282G>A (p.Gly761Glu) c.2201G>A (p.Gly734Glu) n.2585G>A | |
X | g.18619923G>C | CA412363650 | CDKL5 | c.2333G>C (p.Gly778Ala) c.2282G>C (p.Gly761Ala) c.2201G>C (p.Gly734Ala) n.2585G>C | COSMIC |
X | g.18619923G>T | CA412363653 | CDKL5 | c.2333G>T (p.Gly778Val) c.2282G>T (p.Gly761Val) c.2201G>T (p.Gly734Val) n.2585G>T | |
X | g.18619924A>C | CA515470262 | CDKL5 | c.2334A>C (p.Gly778=) c.2283A>C (p.Gly761=) c.2202A>C (p.Gly734=) n.2586A>C | |
X | g.18619924A>G | CA515470263 | CDKL5 | c.2334A>G (p.Gly778=) c.2283A>G (p.Gly761=) c.2202A>G (p.Gly734=) n.2586A>G | |
X | g.18619924A>T | CA515470264 | CDKL5 | c.2334A>T (p.Gly778=) c.2283A>T (p.Gly761=) c.2202A>T (p.Gly734=) n.2586A>T | |
X | g.18619925T>A | CA412363665 | CDKL5 | c.2335T>A (p.Phe779Ile) c.2284T>A (p.Phe762Ile) c.2203T>A (p.Phe735Ile) n.2587T>A | |
X | g.18619925T>C | CA412363674 | CDKL5 | c.2335T>C (p.Phe779Leu) c.2284T>C (p.Phe762Leu) c.2203T>C (p.Phe735Leu) n.2587T>C | |
X | g.18619925T>G | CA412363663 | CDKL5 | c.2335T>G (p.Phe779Val) c.2284T>G (p.Phe762Val) c.2203T>G (p.Phe735Val) n.2587T>G | |
X | g.18619926T>A | CA412363678 | CDKL5 | c.2336T>A (p.Phe779Tyr) c.2285T>A (p.Phe762Tyr) c.2204T>A (p.Phe735Tyr) n.2588T>A | |
X | g.18619926T>C | CA412363680 | CDKL5 | c.2336T>C (p.Phe779Ser) c.2285T>C (p.Phe762Ser) c.2204T>C (p.Phe735Ser) n.2588T>C | |
X | g.18619926T>G | CA412363687 | CDKL5 | c.2336T>G (p.Phe779Cys) c.2285T>G (p.Phe762Cys) c.2204T>G (p.Phe735Cys) n.2588T>G | |
X | g.18619927T>A | CA412363689 | CDKL5 | c.2337T>A (p.Phe779Leu) c.2286T>A (p.Phe762Leu) c.2205T>A (p.Phe735Leu) n.2589T>A | |
X | g.18619927T>C | CA515470266 | CDKL5 | c.2337T>C (p.Phe779=) c.2286T>C (p.Phe762=) c.2205T>C (p.Phe735=) n.2589T>C | |
X | g.18619927T>G | CA412363692 | CDKL5 | c.2337T>G (p.Phe779Leu) c.2286T>G (p.Phe762Leu) c.2205T>G (p.Phe735Leu) n.2589T>G | |
X | g.18619928T>A | CA412363698 | CDKL5 | c.2338T>A (p.Phe780Ile) c.2287T>A (p.Phe763Ile) c.2206T>A (p.Phe736Ile) n.2590T>A | |
X | g.18619928T>C | CA412363697 | CDKL5 | c.2338T>C (p.Phe780Leu) c.2287T>C (p.Phe763Leu) c.2206T>C (p.Phe736Leu) n.2590T>C | |
X | g.18619928T>G | CA412363696 | CDKL5 | c.2338T>G (p.Phe780Val) c.2287T>G (p.Phe763Val) c.2206T>G (p.Phe736Val) n.2590T>G | |
X | g.18619929T>A | CA412363699 | CDKL5 | c.2339T>A (p.Phe780Tyr) c.2288T>A (p.Phe763Tyr) c.2207T>A (p.Phe736Tyr) n.2591T>A | |
X | g.18619929T>C | CA412363700 | CDKL5 | c.2339T>C (p.Phe780Ser) c.2288T>C (p.Phe763Ser) c.2207T>C (p.Phe736Ser) n.2591T>C | |
X | g.18619929T>G | CA412363702 | CDKL5 | c.2339T>G (p.Phe780Cys) c.2288T>G (p.Phe763Cys) c.2207T>G (p.Phe736Cys) n.2591T>G | |
X | g.18619930C>A | CA412363703 | CDKL5 | c.2340C>A (p.Phe780Leu) c.2289C>A (p.Phe763Leu) c.2208C>A (p.Phe736Leu) n.2592C>A | gnomAD v4 |
X | g.18619930C>G | CA412363704 | CDKL5 | c.2340C>G (p.Phe780Leu) c.2289C>G (p.Phe763Leu) c.2208C>G (p.Phe736Leu) n.2592C>G | |
X | g.18619930C>T | CA515470269 | CDKL5 | c.2340C>T (p.Phe780=) c.2289C>T (p.Phe763=) c.2208C>T (p.Phe736=) n.2592C>T | |
X | g.18619931A>C | CA515470270 | CDKL5 | c.2341A>C (p.Arg781=) c.2290A>C (p.Arg764=) c.2209A>C (p.Arg737=) n.2593A>C | |
X | g.18619931A>G | CA412363705 | CDKL5 | c.2341A>G (p.Arg781Gly) c.2290A>G (p.Arg764Gly) c.2209A>G (p.Arg737Gly) n.2593A>G | gnomAD v4 |
X | g.18619931A>T | CA412363707 | CDKL5 | c.2341A>T (p.Arg781Trp) c.2290A>T (p.Arg764Trp) c.2209A>T (p.Arg737Trp) n.2593A>T | gnomAD v4 |
X | g.18619931_18619932delinsAG | CA2417979428 | CDKL5 | c.2341_2342delinsAG (p.Arg781=) c.2290_2291delinsAG (p.Arg764=) c.2209_2210delinsAG (p.Arg737=) n.2593_2594delinsAG | |
X | g.18619932G>A | CA412363710 | CDKL5 | c.2342G>A (p.Arg781Lys) c.2291G>A (p.Arg764Lys) c.2210G>A (p.Arg737Lys) n.2594G>A | |
X | g.18619932G>C | CA412363728 | CDKL5 | c.2342G>C (p.Arg781Thr) c.2291G>C (p.Arg764Thr) c.2210G>C (p.Arg737Thr) n.2594G>C | |
X | g.18619932G>T | CA412363723 | CDKL5 | c.2342G>T (p.Arg781Met) c.2291G>T (p.Arg764Met) c.2210G>T (p.Arg737Met) n.2594G>T | |
X | g.18619933del | CA170475 | CDKL5 | c.2343del (p.Arg781SerfsTer3) c.2292del (p.Arg764SerfsTer3) c.2211del (p.Arg737SerfsTer3) n.2595del | ClinVar dbSNP |
X | g.18619933G>A | CA515470274 | CDKL5 | c.2343G>A (p.Arg781=) c.2292G>A (p.Arg764=) c.2211G>A (p.Arg737=) n.2595G>A | gnomAD v4 |
X | g.18619933G>C | CA412363732 | CDKL5 | c.2343G>C (p.Arg781Ser) c.2292G>C (p.Arg764Ser) c.2211G>C (p.Arg737Ser) n.2595G>C | |
X | g.18619933G>T | CA412363736 | CDKL5 | c.2343G>T (p.Arg781Ser) c.2292G>T (p.Arg764Ser) c.2211G>T (p.Arg737Ser) n.2595G>T | |
X | g.18619934T>A | CA412363739 | CDKL5 | c.2344T>A (p.Ser782Thr) c.2293T>A (p.Ser765Thr) c.2212T>A (p.Ser738Thr) n.2596T>A | |
X | g.18619934T>C | CA412363742 | CDKL5 | c.2344T>C (p.Ser782Pro) c.2293T>C (p.Ser765Pro) c.2212T>C (p.Ser738Pro) n.2596T>C | |
X | g.18619934T>G | CA412363747 | CDKL5 | c.2344T>G (p.Ser782Ala) c.2293T>G (p.Ser765Ala) c.2212T>G (p.Ser738Ala) n.2596T>G | |
X | g.18619935del | CA2738437361 | CDKL5 | c.2345del (p.Ser782Ter) c.2294del (p.Ser765Ter) c.2213del (p.Ser738Ter) n.2597del | dbSNP |
X | g.18619935C>A | CA412363752 | CDKL5 | c.2345C>A (p.Ser782Ter) c.2294C>A (p.Ser765Ter) c.2213C>A (p.Ser738Ter) n.2597C>A | ClinVar dbSNP gnomAD v4 |
X | g.18619935C= | CA2417979429 | CDKL5 | c.2345C= (p.Ser782=) c.2294C= (p.Ser765=) c.2213C= (p.Ser738=) n.2597C= | |
X | g.18619935C>G | CA412363753 | CDKL5 | c.2345C>G (p.Ser782Ter) c.2294C>G (p.Ser765Ter) c.2213C>G (p.Ser738Ter) n.2597C>G | ClinVar dbSNP |
X | g.18619935C>T | CA412363755 | CDKL5 | c.2345C>T (p.Ser782Leu) c.2294C>T (p.Ser765Leu) c.2213C>T (p.Ser738Leu) n.2597C>T | |
X | g.18619936A>C | CA515470276 | CDKL5 | c.2346A>C (p.Ser782=) c.2295A>C (p.Ser765=) c.2214A>C (p.Ser738=) n.2598A>C | |
X | g.18619936A>G | CA515470277 | CDKL5 | c.2346A>G (p.Ser782=) c.2295A>G (p.Ser765=) c.2214A>G (p.Ser738=) n.2598A>G | gnomAD v4 |
X | g.18619936A>T | CA515470278 | CDKL5 | c.2346A>T (p.Ser782=) c.2295A>T (p.Ser765=) c.2214A>T (p.Ser738=) n.2598A>T | |
X | g.18619938_18619943dup | CA2693223300 | CDKL5 | c.2348_2353dup (p.Lys784_Lys785insMetLys) c.2348_2353dup (p.Lys784_X785insMetLys) c.2297_2302dup (p.Lys767_Lys768insMetLys) c.2216_2221dup (p.Lys740_Lys741insMetLys) n.2600_2605dup | gnomAD v4 |
X | g.18619937A= | CA2417979430 | CDKL5 | c.2347A= (p.Met783=) c.2296A= (p.Met766=) c.2215A= (p.Met739=) n.2599A= | |
X | g.18619937A>C | CA412363759 | CDKL5 | c.2347A>C (p.Met783Leu) c.2296A>C (p.Met766Leu) c.2215A>C (p.Met739Leu) n.2599A>C | |
X | g.18619937A>G | CA412363763 | CDKL5 | c.2347A>G (p.Met783Val) c.2296A>G (p.Met766Val) c.2215A>G (p.Met739Val) n.2599A>G | |
X | g.18619937A>T | CA10360527 | CDKL5 | c.2347A>T (p.Met783Leu) c.2296A>T (p.Met766Leu) c.2215A>T (p.Met739Leu) n.2599A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18619938T>A | CA412363767 | CDKL5 | c.2348T>A (p.Met783Lys) c.2297T>A (p.Met766Lys) c.2216T>A (p.Met739Lys) n.2600T>A | |
X | g.18619938T>C | CA412363780 | CDKL5 | c.2348T>C (p.Met783Thr) c.2297T>C (p.Met766Thr) c.2216T>C (p.Met739Thr) n.2600T>C | |
X | g.18619938T>G | CA412363777 | CDKL5 | c.2348T>G (p.Met783Arg) c.2297T>G (p.Met766Arg) c.2216T>G (p.Met739Arg) n.2600T>G | |
X | g.18619939G>A | CA412363783 | CDKL5 | c.2349G>A (p.Met783Ile) c.2298G>A (p.Met766Ile) c.2217G>A (p.Met739Ile) n.2601G>A | |
X | g.18619939G>C | CA412363788 | CDKL5 | c.2349G>C (p.Met783Ile) c.2298G>C (p.Met766Ile) c.2217G>C (p.Met739Ile) n.2601G>C | |
X | g.18619939G>T | CA412363790 | CDKL5 | c.2349G>T (p.Met783Ile) c.2298G>T (p.Met766Ile) c.2217G>T (p.Met739Ile) n.2601G>T | |
X | g.18619940A>C | CA412363795 | CDKL5 | c.2350A>C (p.Lys784Gln) c.2299A>C (p.Lys767Gln) c.2218A>C (p.Lys740Gln) n.2602A>C | |
X | g.18619940A>G | CA412363798 | CDKL5 | c.2350A>G (p.Lys784Glu) c.2299A>G (p.Lys767Glu) c.2218A>G (p.Lys740Glu) n.2602A>G | gnomAD v4 |
X | g.18619940A>T | CA412363805 | CDKL5 | c.2350A>T (p.Lys784Ter) c.2299A>T (p.Lys767Ter) c.2218A>T (p.Lys740Ter) n.2602A>T | |
X | g.18619944dup | CA645620506 | CDKL5 | c.2354dup (p.Lys786GlufsTer15) c.2354dup (p.Lys786GlufsTer27) c.2303dup (p.Lys769GlufsTer27) c.2222dup (p.Lys742GlufsTer27) n.2606dup | COSMIC |
X | g.18619944del | CA2579563031 | CDKL5 | c.2354del (p.Lys785ArgfsTer18) c.2354del (p.Lys785ArgfsTer?) c.2354del c.2303del (p.Lys768ArgfsTer?) c.2222del (p.Lys741ArgfsTer?) n.2606del | |
X | g.18619941A>C | CA412363812 | CDKL5 | c.2351A>C (p.Lys784Thr) c.2300A>C (p.Lys767Thr) c.2219A>C (p.Lys740Thr) n.2603A>C | |
X | g.18619941A>G | CA412363808 | CDKL5 | c.2351A>G (p.Lys784Arg) c.2300A>G (p.Lys767Arg) c.2219A>G (p.Lys740Arg) n.2603A>G | |
X | g.18619941A>T | CA412363809 | CDKL5 | c.2351A>T (p.Lys784Ile) c.2300A>T (p.Lys767Ile) c.2219A>T (p.Lys740Ile) n.2603A>T | |
X | g.18619941_18619945delinsAAAAG | CA2417979431 | CDKL5 | c.2351_2355delinsAAAAG (p.Lys784=) c.2300_2304delinsAAAAG (p.Lys767=) c.2219_2223delinsAAAAG (p.Lys740=) n.2603_2607delinsAAAAG | |
X | g.18619942A>C | CA412363817 | CDKL5 | c.2352A>C (p.Lys784Asn) c.2301A>C (p.Lys767Asn) c.2220A>C (p.Lys740Asn) n.2604A>C | |
X | g.18619942A>G | CA515470279 | CDKL5 | c.2352A>G (p.Lys784=) c.2301A>G (p.Lys767=) c.2220A>G (p.Lys740=) n.2604A>G | gnomAD v4 |
X | g.18619942A>T | CA412363822 | CDKL5 | c.2352A>T (p.Lys784Asn) c.2301A>T (p.Lys767Asn) c.2220A>T (p.Lys740Asn) n.2604A>T | |
X | g.18619945_18619948del | CA916083848 | CDKL5 | c.2355_2358del (p.Lys786ArgfsTer16) c.2355_2358del (p.Lys786ArgfsTer?) c.2304_2307del (p.Lys769ArgfsTer?) c.2223_2226del (p.Lys742ArgfsTer?) n.2607_2610del | ClinVar dbSNP |
X | g.18619943A>C | CA412363828 | CDKL5 | c.2353A>C (p.Lys785Gln) c.2353A>C c.2302A>C (p.Lys768Gln) c.2221A>C (p.Lys741Gln) n.2605A>C | |
X | g.18619943A>G | CA412363829 | CDKL5 | c.2353A>G (p.Lys785Glu) c.2353A>G c.2302A>G (p.Lys768Glu) c.2221A>G (p.Lys741Glu) n.2605A>G | |
X | g.18619943A>T | CA412363830 | CDKL5 | c.2353A>T (p.Lys785Ter) c.2353A>T c.2302A>T (p.Lys768Ter) c.2221A>T (p.Lys741Ter) n.2605A>T | |
X | g.18619945_18619947del | CA2740092050 | CDKL5 | c.2355_2357del (p.Lys786del) c.2304_2306del (p.Lys769del) c.2223_2225del (p.Lys742del) n.2607_2609del | ClinVar |
X | g.18619944A>C | CA412363831 | CDKL5 | c.2354A>C (p.Lys785Thr) c.2354A>C c.2303A>C (p.Lys768Thr) c.2222A>C (p.Lys741Thr) n.2606A>C | ClinVar |
X | g.18619944A>G | CA412363833 | CDKL5 | c.2354A>G (p.Lys785Arg) c.2354A>G c.2303A>G (p.Lys768Arg) c.2222A>G (p.Lys741Arg) n.2606A>G | gnomAD v4 |
X | g.18619944A>T | CA412363832 | CDKL5 | c.2354A>T (p.Lys785Met) c.2354A>T c.2303A>T (p.Lys768Met) c.2222A>T (p.Lys741Met) n.2606A>T | |
X | g.18619945G>A | CA515470282 | CDKL5 | c.2355G>A (p.Lys785=) c.2304G>A (p.Lys768=) c.2223G>A (p.Lys741=) n.2607G>A | COSMIC |
X | g.18619945G>C | CA412363841 | CDKL5 | c.2355G>C (p.Lys785Asn) c.2304G>C (p.Lys768Asn) c.2223G>C (p.Lys741Asn) n.2607G>C | |
X | g.18619945G>T | CA412363842 | CDKL5 | c.2355G>T (p.Lys785Asn) c.2304G>T (p.Lys768Asn) c.2223G>T (p.Lys741Asn) n.2607G>T |