Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18619794C>A | CA2693223269 | CDKL5 | c.2277-73C>A (n.2277-73C>A) c.2226-73C>A (n.2226-73C>A) c.2145-73C>A (n.2145-73C>A) n.2529-73C>A | gnomAD v4 |
X | g.18619794_18619796del | CA2693223268 | CDKL5 | c.2277-73_2277-71del (n.2277-73_2277-71del) c.2226-73_2226-71del (n.2226-73_2226-71del) c.2145-73_2145-71del (n.2145-73_2145-71del) n.2529-73_2529-71del | gnomAD v4 |
X | g.18619795T>C | CA2693223270 | CDKL5 | c.2277-72T>C (n.2277-72T>C) c.2226-72T>C (n.2226-72T>C) c.2145-72T>C (n.2145-72T>C) n.2529-72T>C | gnomAD v4 |
X | g.18619796del | CA2539689434 | CDKL5 | c.2277-71del (n.2277-71del) c.2226-71del (n.2226-71del) c.2145-71del (n.2145-71del) n.2529-71del | |
X | g.18619797A>G | CA2693223271 | CDKL5 | c.2277-70A>G (n.2277-70A>G) c.2226-70A>G (n.2226-70A>G) c.2145-70A>G (n.2145-70A>G) n.2529-70A>G | gnomAD v4 |
X | g.18619798T>C | CA873674066 | CDKL5 | c.2277-69T>C (n.2277-69T>C) c.2226-69T>C (n.2226-69T>C) c.2145-69T>C (n.2145-69T>C) n.2529-69T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619798T= | CA2417979384 | CDKL5 | c.2277-69T= (n.2277-69T=) c.2226-69T= (n.2226-69T=) c.2145-69T= (n.2145-69T=) n.2529-69T= | |
X | g.18619799T>C | CA2693223272 | CDKL5 | c.2277-68T>C (n.2277-68T>C) c.2226-68T>C (n.2226-68T>C) c.2145-68T>C (n.2145-68T>C) n.2529-68T>C | gnomAD v4 |
X | g.18619800A>G | CA2693223273 | CDKL5 | c.2277-67A>G (n.2277-67A>G) c.2226-67A>G (n.2226-67A>G) c.2145-67A>G (n.2145-67A>G) n.2529-67A>G | gnomAD v4 |
X | g.18619800A>T | CA2579563023 | CDKL5 | c.2277-67A>T (n.2277-67A>T) c.2226-67A>T (n.2226-67A>T) c.2145-67A>T (n.2145-67A>T) n.2529-67A>T | |
X | g.18619801T>G | CA2693223274 | CDKL5 | c.2277-66T>G (n.2277-66T>G) c.2226-66T>G (n.2226-66T>G) c.2145-66T>G (n.2145-66T>G) n.2529-66T>G | gnomAD v4 |
X | g.18619802A>G | CA2579563024 | CDKL5 | c.2277-65A>G (n.2277-65A>G) c.2226-65A>G (n.2226-65A>G) c.2145-65A>G (n.2145-65A>G) n.2529-65A>G | |
X | g.18619803T>G | CA327007673 | CDKL5 | c.2277-64T>G (n.2277-64T>G) c.2226-64T>G (n.2226-64T>G) c.2145-64T>G (n.2145-64T>G) n.2529-64T>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619803T= | CA2417979385 | CDKL5 | c.2277-64T= (n.2277-64T=) c.2226-64T= (n.2226-64T=) c.2145-64T= (n.2145-64T=) n.2529-64T= | |
X | g.18619804T>C | CA2417979387 | CDKL5 | c.2277-63T>C (n.2277-63T>C) c.2226-63T>C (n.2226-63T>C) c.2145-63T>C (n.2145-63T>C) n.2529-63T>C | dbSNP |
X | g.18619804T= | CA2417979386 | CDKL5 | c.2277-63T= (n.2277-63T=) c.2226-63T= (n.2226-63T=) c.2145-63T= (n.2145-63T=) n.2529-63T= | |
X | g.18619806G>A | CA873674069 | CDKL5 | c.2277-61G>A (n.2277-61G>A) c.2226-61G>A (n.2226-61G>A) c.2145-61G>A (n.2145-61G>A) n.2529-61G>A | dbSNP |
X | g.18619806G= | CA2417979388 | CDKL5 | c.2277-61G= (n.2277-61G=) c.2226-61G= (n.2226-61G=) c.2145-61G= (n.2145-61G=) n.2529-61G= | |
X | g.18619806G>T | CA2693223275 | CDKL5 | c.2277-61G>T (n.2277-61G>T) c.2226-61G>T (n.2226-61G>T) c.2145-61G>T (n.2145-61G>T) n.2529-61G>T | gnomAD v4 |
X | g.18619808C>A | CA2693223276 | CDKL5 | c.2277-59C>A (n.2277-59C>A) c.2226-59C>A (n.2226-59C>A) c.2145-59C>A (n.2145-59C>A) n.2529-59C>A | gnomAD v4 |
X | g.18619808C= | CA2417979389 | CDKL5 | c.2277-59C= (n.2277-59C=) c.2226-59C= (n.2226-59C=) c.2145-59C= (n.2145-59C=) n.2529-59C= | |
X | g.18619808C>T | CA873674071 | CDKL5 | c.2277-59C>T (n.2277-59C>T) c.2226-59C>T (n.2226-59C>T) c.2145-59C>T (n.2145-59C>T) n.2529-59C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619809A>G | CA2579563025 | CDKL5 | c.2277-58A>G (n.2277-58A>G) c.2226-58A>G (n.2226-58A>G) c.2145-58A>G (n.2145-58A>G) n.2529-58A>G | gnomAD v4 |
X | g.18619810C>A | CA2579563026 | CDKL5 | c.2277-57C>A (n.2277-57C>A) c.2226-57C>A (n.2226-57C>A) c.2145-57C>A (n.2145-57C>A) n.2529-57C>A | gnomAD v4 |
X | g.18619810C= | CA2417979390 | CDKL5 | c.2277-57C= (n.2277-57C=) c.2226-57C= (n.2226-57C=) c.2145-57C= (n.2145-57C=) n.2529-57C= | |
X | g.18619810C>T | CA873674073 | CDKL5 | c.2277-57C>T (n.2277-57C>T) c.2226-57C>T (n.2226-57C>T) c.2145-57C>T (n.2145-57C>T) n.2529-57C>T | dbSNP |
X | g.18619812C>A | CA2693223277 | CDKL5 | c.2277-55C>A (n.2277-55C>A) c.2226-55C>A (n.2226-55C>A) c.2145-55C>A (n.2145-55C>A) n.2529-55C>A | gnomAD v4 |
X | g.18619812C>T | CA2693223278 | CDKL5 | c.2277-55C>T (n.2277-55C>T) c.2226-55C>T (n.2226-55C>T) c.2145-55C>T (n.2145-55C>T) n.2529-55C>T | gnomAD v4 |
X | g.18619813A= | CA2417979391 | CDKL5 | c.2277-54A= (n.2277-54A=) c.2226-54A= (n.2226-54A=) c.2145-54A= (n.2145-54A=) n.2529-54A= | |
X | g.18619813A>G | CA1131399640 | CDKL5 | c.2277-54A>G (n.2277-54A>G) c.2226-54A>G (n.2226-54A>G) c.2145-54A>G (n.2145-54A>G) n.2529-54A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619814del | CA2693223279 | CDKL5 | c.2277-53del (n.2277-53del) c.2226-53del (n.2226-53del) c.2145-53del (n.2145-53del) n.2529-53del | gnomAD v4 |
X | g.18619814A>G | CA2693223280 | CDKL5 | c.2277-53A>G (n.2277-53A>G) c.2226-53A>G (n.2226-53A>G) c.2145-53A>G (n.2145-53A>G) n.2529-53A>G | gnomAD v4 |
X | g.18619816G>C | CA2693223281 | CDKL5 | c.2277-51G>C (n.2277-51G>C) c.2226-51G>C (n.2226-51G>C) c.2145-51G>C (n.2145-51G>C) n.2529-51G>C | gnomAD v4 |
X | g.18619817G>T | CA2693223282 | CDKL5 | c.2277-50G>T (n.2277-50G>T) c.2226-50G>T (n.2226-50G>T) c.2145-50G>T (n.2145-50G>T) n.2529-50G>T | gnomAD v4 |
X | g.18619818del | CA2819902179 | CDKL5 | c.2277-49del (n.2277-49del) c.2226-49del (n.2226-49del) c.2145-49del (n.2145-49del) n.2529-49del | |
X | g.18619818C>A | CA2693223283 | CDKL5 | c.2277-49C>A (n.2277-49C>A) c.2226-49C>A (n.2226-49C>A) c.2145-49C>A (n.2145-49C>A) n.2529-49C>A | gnomAD v4 |
X | g.18619819A= | CA2417979392 | CDKL5 | c.2277-48A= (n.2277-48A=) c.2226-48A= (n.2226-48A=) c.2145-48A= (n.2145-48A=) n.2529-48A= | |
X | g.18619819A>C | CA10360523 | CDKL5 | c.2277-48A>C (n.2277-48A>C) c.2226-48A>C (n.2226-48A>C) c.2145-48A>C (n.2145-48A>C) n.2529-48A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18619821G= | CA2417979393 | CDKL5 | c.2277-46G= (n.2277-46G=) c.2226-46G= (n.2226-46G=) c.2145-46G= (n.2145-46G=) n.2529-46G= | |
X | g.18619821G>T | CA1131399643 | CDKL5 | c.2277-46G>T (n.2277-46G>T) c.2226-46G>T (n.2226-46G>T) c.2145-46G>T (n.2145-46G>T) n.2529-46G>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18619822A>C | CA2579563027 | CDKL5 | c.2277-45A>C (n.2277-45A>C) c.2226-45A>C (n.2226-45A>C) c.2145-45A>C (n.2145-45A>C) n.2529-45A>C | |
X | g.18619825del | CA2693223284 | CDKL5 | c.2277-42del (n.2277-42del) c.2226-42del (n.2226-42del) c.2145-42del (n.2145-42del) n.2529-42del | gnomAD v4 |
X | g.18619825_18619829delinsATGAT | CA2417979394 | CDKL5 | c.2277-42_2277-38delinsATGAT (n.2277-42_2277-38delinsATGAT) c.2226-42_2226-38delinsATGAT (n.2226-42_2226-38delinsATGAT) c.2145-42_2145-38delinsATGAT (n.2145-42_2145-38delinsATGAT) n.2529-42_2529-38delinsATGAT | |
X | g.18619829_18619832del | CA10360524 | CDKL5 | c.2277-38_2277-35del (n.2277-38_2277-35del) c.2226-38_2226-35del (n.2226-38_2226-35del) c.2145-38_2145-35del (n.2145-38_2145-35del) n.2529-38_2529-35del | dbSNP ExAC |
X | g.18619827G= | CA2417979395 | CDKL5 | c.2277-40G= (n.2277-40G=) c.2226-40G= (n.2226-40G=) c.2145-40G= (n.2145-40G=) n.2529-40G= | |
X | g.18619827G>T | CA657739719 | CDKL5 | c.2277-40G>T (n.2277-40G>T) c.2226-40G>T (n.2226-40G>T) c.2145-40G>T (n.2145-40G>T) n.2529-40G>T | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.18619828A= | CA2417979396 | CDKL5 | c.2277-39A= (n.2277-39A=) c.2226-39A= (n.2226-39A=) c.2145-39A= (n.2145-39A=) n.2529-39A= | |
X | g.18619828A>G | CA10360525 | CDKL5 | c.2277-39A>G (n.2277-39A>G) c.2226-39A>G (n.2226-39A>G) c.2145-39A>G (n.2145-39A>G) n.2529-39A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18619829T>C | CA2693223285 | CDKL5 | c.2277-38T>C (n.2277-38T>C) c.2226-38T>C (n.2226-38T>C) c.2145-38T>C (n.2145-38T>C) n.2529-38T>C | gnomAD v4 |
X | g.18619831G>A | CA657739722 | CDKL5 | c.2277-36G>A (n.2277-36G>A) c.2226-36G>A (n.2226-36G>A) c.2145-36G>A (n.2145-36G>A) n.2529-36G>A | COSMIC |
X | g.18619832A= | CA2417979397 | CDKL5 | c.2277-35A= (n.2277-35A=) c.2226-35A= (n.2226-35A=) c.2145-35A= (n.2145-35A=) n.2529-35A= | |
X | g.18619832A>C | CA327007680 | CDKL5 | c.2277-35A>C (n.2277-35A>C) c.2226-35A>C (n.2226-35A>C) c.2145-35A>C (n.2145-35A>C) n.2529-35A>C | dbSNP |
X | g.18619833A>G | CA2579563028 | CDKL5 | c.2277-34A>G (n.2277-34A>G) c.2226-34A>G (n.2226-34A>G) c.2145-34A>G (n.2145-34A>G) n.2529-34A>G | gnomAD v4 |
X | g.18619838C>A | CA2693223286 | CDKL5 | c.2277-29C>A (n.2277-29C>A) c.2226-29C>A (n.2226-29C>A) c.2145-29C>A (n.2145-29C>A) n.2529-29C>A | gnomAD v4 |
X | g.18619840A= | CA2417979398 | CDKL5 | c.2277-27A= (n.2277-27A=) c.2226-27A= (n.2226-27A=) c.2145-27A= (n.2145-27A=) n.2529-27A= | |
X | g.18619840A>G | CA640510401 | CDKL5 | c.2277-27A>G (n.2277-27A>G) c.2226-27A>G (n.2226-27A>G) c.2145-27A>G (n.2145-27A>G) n.2529-27A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18619841T>C | CA2417979400 | CDKL5 | c.2277-26T>C (n.2277-26T>C) c.2226-26T>C (n.2226-26T>C) c.2145-26T>C (n.2145-26T>C) n.2529-26T>C | dbSNP gnomAD v4 |
X | g.18619841T= | CA2417979399 | CDKL5 | c.2277-26T= (n.2277-26T=) c.2226-26T= (n.2226-26T=) c.2145-26T= (n.2145-26T=) n.2529-26T= | |
X | g.18619842A= | CA2417979401 | CDKL5 | c.2277-25A= (n.2277-25A=) c.2226-25A= (n.2226-25A=) c.2145-25A= (n.2145-25A=) n.2529-25A= | |
X | g.18619842A>G | CA2417979402 | CDKL5 | c.2277-25A>G (n.2277-25A>G) c.2226-25A>G (n.2226-25A>G) c.2145-25A>G (n.2145-25A>G) n.2529-25A>G | dbSNP |
X | g.18619843T>A | CA640510408 | CDKL5 | c.2277-24T>A (n.2277-24T>A) c.2226-24T>A (n.2226-24T>A) c.2145-24T>A (n.2145-24T>A) n.2529-24T>A | dbSNP gnomAD v2 |
X | g.18619843T= | CA2417979403 | CDKL5 | c.2277-24T= (n.2277-24T=) c.2226-24T= (n.2226-24T=) c.2145-24T= (n.2145-24T=) n.2529-24T= | |
X | g.18619844G>A | CA640510411 | CDKL5 | c.2277-23G>A (n.2277-23G>A) c.2226-23G>A (n.2226-23G>A) c.2145-23G>A (n.2145-23G>A) n.2529-23G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18619844G= | CA2417979404 | CDKL5 | c.2277-23G= (n.2277-23G=) c.2226-23G= (n.2226-23G=) c.2145-23G= (n.2145-23G=) n.2529-23G= | |
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 |