Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18580508_18584414del | CA199399 | CDKL5 | c.403+540_554+61del c.271+540_422+61del n.655+540_806+61del | ClinVar |
X | g.18584203G>A | CA640510057 | CDKL5 | c.464-60G>A (n.464-60G>A) c.332-60G>A (n.332-60G>A) n.716-60G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584203G= | CA2417967994 | CDKL5 | c.464-60G= (n.464-60G=) c.332-60G= (n.332-60G=) n.716-60G= | |
X | g.18584203G>T | CA1131400697 | CDKL5 | c.464-60G>T (n.464-60G>T) c.332-60G>T (n.332-60G>T) n.716-60G>T | dbSNP gnomAD v4 |
X | g.18584204C>A | CA873656191 | CDKL5 | c.464-59C>A (n.464-59C>A) c.332-59C>A (n.332-59C>A) n.716-59C>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18584204C= | CA2417967995 | CDKL5 | c.464-59C= (n.464-59C=) c.332-59C= (n.332-59C=) n.716-59C= | |
X | g.18584204C>T | CA2579562814 | CDKL5 | c.464-59C>T (n.464-59C>T) c.332-59C>T (n.332-59C>T) n.716-59C>T | |
X | g.18584205C= | CA2417967996 | CDKL5 | c.464-58C= (n.464-58C=) c.332-58C= (n.332-58C=) n.716-58C= | |
X | g.18584205C>G | CA326984673 | CDKL5 | c.464-58C>G (n.464-58C>G) c.332-58C>G (n.332-58C>G) n.716-58C>G | dbSNP gnomAD v4 |
X | g.18584206C>A | CA2693221622 | CDKL5 | c.464-57C>A (n.464-57C>A) c.332-57C>A (n.332-57C>A) n.716-57C>A | gnomAD v4 |
X | g.18584207A>G | CA2693221623 | CDKL5 | c.464-56A>G (n.464-56A>G) c.332-56A>G (n.332-56A>G) n.716-56A>G | gnomAD v4 |
X | g.18584208C>A | CA2579562815 | CDKL5 | c.464-55C>A (n.464-55C>A) c.332-55C>A (n.332-55C>A) n.716-55C>A | gnomAD v4 |
X | g.18584209A= | CA2417967997 | CDKL5 | c.464-54A= (n.464-54A=) c.332-54A= (n.332-54A=) n.716-54A= | |
X | g.18584209A>G | CA326984675 | CDKL5 | c.464-54A>G (n.464-54A>G) c.332-54A>G (n.332-54A>G) n.716-54A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584211G>T | CA2693221624 | CDKL5 | c.464-52G>T (n.464-52G>T) c.332-52G>T (n.332-52G>T) n.716-52G>T | gnomAD v4 |
X | g.18584219_18584221del | CA2515575176 | CDKL5 | c.464-44_464-42del (n.464-44_464-42del) c.332-44_332-42del (n.332-44_332-42del) n.716-44_716-42del | |
X | g.18584214T>A | CA2693221625 | CDKL5 | c.464-49T>A (n.464-49T>A) c.332-49T>A (n.332-49T>A) n.716-49T>A | gnomAD v4 |
X | g.18584214T>G | CA2693221626 | CDKL5 | c.464-49T>G (n.464-49T>G) c.332-49T>G (n.332-49T>G) n.716-49T>G | gnomAD v4 |
X | g.18584216A>G | CA915848008 | CDKL5 | c.464-47A>G (n.464-47A>G) c.332-47A>G (n.332-47A>G) n.716-47A>G | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584219A>T | CA2693221627 | CDKL5 | c.464-44A>T (n.464-44A>T) c.332-44A>T (n.332-44A>T) n.716-44A>T | gnomAD v4 |
X | g.18584219_18584223delinsATTTC | CA2417967998 | CDKL5 | c.464-44_464-40delinsATTTC (n.464-44_464-40delinsATTTC) c.332-44_332-40delinsATTTC (n.332-44_332-40delinsATTTC) n.716-44_716-40delinsATTTC | |
X | g.18584223_18584226del | CA199363 | CDKL5 | c.464-40_464-37del (n.464-40_464-37del) c.332-40_332-37del (n.332-40_332-37del) n.716-40_716-37del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584223C>A | CA640510060 | CDKL5 | c.464-40C>A (n.464-40C>A) c.332-40C>A (n.332-40C>A) n.716-40C>A | dbSNP gnomAD v2 |
X | g.18584223C= | CA2417967999 | CDKL5 | c.464-40C= (n.464-40C=) c.332-40C= (n.332-40C=) n.716-40C= | |
X | g.18584224T>A | CA2693221628 | CDKL5 | c.464-39T>A (n.464-39T>A) c.332-39T>A (n.332-39T>A) n.716-39T>A | gnomAD v4 |
X | g.18584224T>C | CA10360269 | CDKL5 | c.464-39T>C (n.464-39T>C) c.332-39T>C (n.332-39T>C) n.716-39T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584224T>G | CA657740529 | CDKL5 | c.464-39T>G (n.464-39T>G) c.332-39T>G (n.332-39T>G) n.716-39T>G | COSMIC |
X | g.18584224T= | CA2417968000 | CDKL5 | c.464-39T= (n.464-39T=) c.332-39T= (n.332-39T=) n.716-39T= | |
X | g.18584225T>C | CA873656211 | CDKL5 | c.464-38T>C (n.464-38T>C) c.332-38T>C (n.332-38T>C) n.716-38T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.18584225T= | CA2417968001 | CDKL5 | c.464-38T= (n.464-38T=) c.332-38T= (n.332-38T=) n.716-38T= | |
X | g.18584226T>G | CA2579562816 | CDKL5 | c.464-37T>G (n.464-37T>G) c.332-37T>G (n.332-37T>G) n.716-37T>G | |
X | g.18584228T>C | CA2579562817 | CDKL5 | c.464-35T>C (n.464-35T>C) c.332-35T>C (n.332-35T>C) n.716-35T>C | |
X | g.18584229C>A | CA2693221629 | CDKL5 | c.464-34C>A (n.464-34C>A) c.332-34C>A (n.332-34C>A) n.716-34C>A | gnomAD v4 |
X | g.18584229C= | CA2417968002 | CDKL5 | c.464-34C= (n.464-34C=) c.332-34C= (n.332-34C=) n.716-34C= | |
X | g.18584229C>T | CA640510061 | CDKL5 | c.464-34C>T (n.464-34C>T) c.332-34C>T (n.332-34C>T) n.716-34C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18584230A>G | CA2693221630 | CDKL5 | c.464-33A>G (n.464-33A>G) c.332-33A>G (n.332-33A>G) n.716-33A>G | gnomAD v4 |
X | g.18584233G>A | CA2819901362 | CDKL5 | c.464-30G>A (n.464-30G>A) c.332-30G>A (n.332-30G>A) n.716-30G>A | |
X | g.18584234T>C | CA2693221631 | CDKL5 | c.464-29T>C (n.464-29T>C) c.332-29T>C (n.332-29T>C) n.716-29T>C | gnomAD v4 |
X | g.18584235del | CA2541079056 | CDKL5 | c.464-28del (n.464-28del) c.332-28del (n.332-28del) n.716-28del | |
X | g.18584236A= | CA2417968003 | CDKL5 | c.464-27A= (n.464-27A=) c.332-27A= (n.332-27A=) n.716-27A= | |
X | g.18584236A>G | CA10360270 | CDKL5 | c.464-27A>G (n.464-27A>G) c.332-27A>G (n.332-27A>G) n.716-27A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584236A>T | CA2693221632 | CDKL5 | c.464-27A>T (n.464-27A>T) c.332-27A>T (n.332-27A>T) n.716-27A>T | gnomAD v4 |
X | g.18584237C>A | CA2693221633 | CDKL5 | c.464-26C>A (n.464-26C>A) c.332-26C>A (n.332-26C>A) n.716-26C>A | gnomAD v4 |
X | g.18584237C>T | CA2579562818 | CDKL5 | c.464-26C>T (n.464-26C>T) c.332-26C>T (n.332-26C>T) n.716-26C>T | gnomAD v4 |
X | g.18584238A>T | CA2693221634 | CDKL5 | c.464-25A>T (n.464-25A>T) c.332-25A>T (n.332-25A>T) n.716-25A>T | gnomAD v4 |
X | g.18584239A>G | CA657740545 | CDKL5 | c.464-24A>G (n.464-24A>G) c.332-24A>G (n.332-24A>G) n.716-24A>G | gnomAD v4 COSMIC COSMIC |
X | g.18584240C>A | CA2693221635 | CDKL5 | c.464-23C>A (n.464-23C>A) c.332-23C>A (n.332-23C>A) n.716-23C>A | gnomAD v4 |
X | g.18584241T>C | CA2693221636 | CDKL5 | c.464-22T>C (n.464-22T>C) c.332-22T>C (n.332-22T>C) n.716-22T>C | gnomAD v4 |
X | g.18584242T>C | CA2693221637 | CDKL5 | c.464-21T>C (n.464-21T>C) c.332-21T>C (n.332-21T>C) n.716-21T>C | gnomAD v4 |
X | g.18584243T>C | CA2693221638 | CDKL5 | c.464-20T>C (n.464-20T>C) c.332-20T>C (n.332-20T>C) n.716-20T>C | gnomAD v4 |
X | g.18584244G>A | CA2579562819 | CDKL5 | c.464-19G>A (n.464-19G>A) c.332-19G>A (n.332-19G>A) n.716-19G>A | gnomAD v4 |
X | g.18584244G>C | CA2693221639 | CDKL5 | c.464-19G>C (n.464-19G>C) c.332-19G>C (n.332-19G>C) n.716-19G>C | gnomAD v4 |
X | g.18584245del | CA2819901363 | CDKL5 | c.464-18del (n.464-18del) c.332-18del (n.332-18del) n.716-18del | |
X | g.18584245G>A | CA2693221640 | CDKL5 | c.464-18G>A (n.464-18G>A) c.332-18G>A (n.332-18G>A) n.716-18G>A | gnomAD v4 |
X | g.18584245G= | CA2417968004 | CDKL5 | c.464-18G= (n.464-18G=) c.332-18G= (n.332-18G=) n.716-18G= | |
X | g.18584245G>T | CA2417968005 | CDKL5 | c.464-18G>T (n.464-18G>T) c.332-18G>T (n.332-18G>T) n.716-18G>T | dbSNP |
X | g.18584246A>G | CA2693221641 | CDKL5 | c.464-17A>G (n.464-17A>G) c.332-17A>G (n.332-17A>G) n.716-17A>G | gnomAD v4 |
X | g.18584247del | CA2693221642 | CDKL5 | c.464-16del (n.464-16del) c.332-16del (n.332-16del) n.716-16del | gnomAD v4 |
X | g.18584247C>A | CA2693221643 | CDKL5 | c.464-16C>A (n.464-16C>A) c.332-16C>A (n.332-16C>A) n.716-16C>A | gnomAD v4 |
X | g.18584247C>T | CA2555893574 | CDKL5 | c.464-16C>T (n.464-16C>T) c.332-16C>T (n.332-16C>T) n.716-16C>T | gnomAD v4 |
X | g.18584250del | CA2579562820 | CDKL5 | c.464-13del (n.464-13del) c.332-13del (n.332-13del) n.716-13del | |
X | g.18584249T>C | CA2693221644 | CDKL5 | c.464-14T>C (n.464-14T>C) c.332-14T>C (n.332-14T>C) n.716-14T>C | gnomAD v4 |
X | g.18584250T>C | CA326984686 | CDKL5 | c.464-13T>C (n.464-13T>C) c.332-13T>C (n.332-13T>C) n.716-13T>C | dbSNP gnomAD v4 |
X | g.18584250T= | CA2417968006 | CDKL5 | c.464-13T= (n.464-13T=) c.332-13T= (n.332-13T=) n.716-13T= | |
X | g.18584251G>A | CA2693221645 | CDKL5 | c.464-12G>A (n.464-12G>A) c.332-12G>A (n.332-12G>A) n.716-12G>A | gnomAD v4 |
X | g.18584252C>A | CA2693221646 | CDKL5 | c.464-11C>A (n.464-11C>A) c.332-11C>A (n.332-11C>A) n.716-11C>A | gnomAD v4 |
X | g.18584252C>T | CA2693221647 | CDKL5 | c.464-11C>T (n.464-11C>T) c.332-11C>T (n.332-11C>T) n.716-11C>T | gnomAD v4 |
X | g.18584254A= | CA2417968007 | CDKL5 | c.464-9A= (n.464-9A=) c.332-9A= (n.332-9A=) n.716-9A= | |
X | g.18584254A>C | CA2579562821 | CDKL5 | c.464-9A>C (n.464-9A>C) c.332-9A>C (n.332-9A>C) n.716-9A>C | gnomAD v4 |
X | g.18584254A>G | CA10360271 | CDKL5 | c.464-9A>G (n.464-9A>G) c.332-9A>G (n.332-9A>G) n.716-9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584256C>A | CA2693221648 | CDKL5 | c.464-7C>A (n.464-7C>A) c.332-7C>A (n.332-7C>A) n.716-7C>A | gnomAD v4 |
X | g.18584257T>C | CA2693221649 | CDKL5 | c.464-6T>C (n.464-6T>C) c.332-6T>C (n.332-6T>C) n.716-6T>C | gnomAD v4 |
X | g.18584258T>C | CA2693221650 | CDKL5 | c.464-5T>C (n.464-5T>C) c.332-5T>C (n.332-5T>C) n.716-5T>C | gnomAD v4 |
X | g.18584258T>G | CA2579562822 | CDKL5 | c.464-5T>G (n.464-5T>G) c.332-5T>G (n.332-5T>G) n.716-5T>G | |
X | g.18584259T>C | CA2693221651 | CDKL5 | c.464-4T>C (n.464-4T>C) c.332-4T>C (n.332-4T>C) n.716-4T>C | gnomAD v4 |
X | g.18584263_18584283del | CA2740097958 | CDKL5 | c.464_484del c.332_352del n.716_736del | ClinVar |
X | g.18584260del | CA2579562823 | CDKL5 | c.464-3del (n.464-3del) c.332-3del (n.332-3del) n.716-3del | |
X | g.18584260C>A | CA2693221652 | CDKL5 | c.464-3C>A (n.464-3C>A) c.332-3C>A (n.332-3C>A) n.716-3C>A | gnomAD v4 |
X | g.18584260C>G | CA2580100394 | CDKL5 | c.464-3C>G (n.464-3C>G) c.332-3C>G (n.332-3C>G) n.716-3C>G | ClinVar |
X | g.18584261A= | CA2417968008 | CDKL5 | c.464-2A= (n.464-2A=) c.332-2A= (n.332-2A=) n.716-2A= | |
X | g.18584261A>C | CA412352081 | CDKL5 | c.464-2A>C (n.464-2A>C) c.332-2A>C (n.332-2A>C) n.716-2A>C | ClinVar dbSNP |
X | g.18584261A>G | CA199406 | CDKL5 | c.464-2A>G (n.464-2A>G) c.332-2A>G (n.332-2A>G) n.716-2A>G | ClinVar dbSNP gnomAD v4 |
X | g.18584261A>T | CA412352086 | CDKL5 | c.464-2A>T (n.464-2A>T) c.332-2A>T (n.332-2A>T) n.716-2A>T | |
X | g.18584262G>A | CA199405 | CDKL5 | c.464-1G>A (n.464-1G>A) c.332-1G>A (n.332-1G>A) n.716-1G>A | ClinVar dbSNP gnomAD v4 |
X | g.18584262G>C | CA412352089 | CDKL5 | c.464-1G>C (n.464-1G>C) c.332-1G>C (n.332-1G>C) n.716-1G>C | ClinVar dbSNP |
X | g.18584262G= | CA2417968009 | CDKL5 | c.464-1G= (n.464-1G=) c.332-1G= (n.332-1G=) n.716-1G= | |
X | g.18584262G>T | CA412352092 | CDKL5 | c.464-1G>T (n.464-1G>T) c.332-1G>T (n.332-1G>T) n.716-1G>T | gnomAD v4 |
X | g.18584263G>A | CA412352093 | CDKL5 | c.464G>A (p.Gly155Asp) c.332G>A (p.Gly111Asp) n.716G>A | |
X | g.18584263G>C | CA412352094 | CDKL5 | c.464G>C (p.Gly155Ala) c.332G>C (p.Gly111Ala) n.716G>C | |
X | g.18584263G>T | CA412352095 | CDKL5 | c.464G>T (p.Gly155Val) c.332G>T (p.Gly111Val) n.716G>T | |
X | g.18584264T>A | CA515470165 | CDKL5 | c.465T>A (p.Gly155=) c.333T>A (p.Gly111=) n.717T>A | |
X | g.18584264T>C | CA515470164 | CDKL5 | c.465T>C (p.Gly155=) c.333T>C (p.Gly111=) n.717T>C | |
X | g.18584264T>G | CA515470163 | CDKL5 | c.465T>G (p.Gly155=) c.333T>G (p.Gly111=) n.717T>G | |
X | g.18584265T>A | CA412352096 | CDKL5 | c.466T>A (p.Phe156Ile) c.334T>A (p.Phe112Ile) n.718T>A | |
X | g.18584265T>C | CA412352098 | CDKL5 | c.466T>C (p.Phe156Leu) c.334T>C (p.Phe112Leu) n.718T>C | gnomAD v4 |
X | g.18584265T>G | CA412352100 | CDKL5 | c.466T>G (p.Phe156Val) c.334T>G (p.Phe112Val) n.718T>G | |
X | g.18584266T>A | CA412352103 | CDKL5 | c.467T>A (p.Phe156Tyr) c.335T>A (p.Phe112Tyr) n.719T>A | |
X | g.18584266T>C | CA412352106 | CDKL5 | c.467T>C (p.Phe156Ser) c.335T>C (p.Phe112Ser) n.719T>C | |
X | g.18584266T>G | CA412352108 | CDKL5 | c.467T>G (p.Phe156Cys) c.335T>G (p.Phe112Cys) n.719T>G | |
X | g.18584267T>A | CA412352111 | CDKL5 | c.468T>A (p.Phe156Leu) c.336T>A (p.Phe112Leu) n.720T>A | |
X | g.18584267T>C | CA515470166 | CDKL5 | c.468T>C (p.Phe156=) c.336T>C (p.Phe112=) n.720T>C | |
X | g.18584267T>G | CA412352113 | CDKL5 | c.468T>G (p.Phe156Leu) c.336T>G (p.Phe112Leu) n.720T>G | |
X | g.18584268G>A | CA412352123 | CDKL5 | c.469G>A (p.Ala157Thr) c.337G>A (p.Ala113Thr) n.721G>A | gnomAD v4 |
X | g.18584268G>C | CA412352120 | CDKL5 | c.469G>C (p.Ala157Pro) c.337G>C (p.Ala113Pro) n.721G>C | ClinVar dbSNP |
X | g.18584268G>T | CA412352117 | CDKL5 | c.469G>T (p.Ala157Ser) c.337G>T (p.Ala113Ser) n.721G>T | |
X | g.18584269C>A | CA412352126 | CDKL5 | c.470C>A (p.Ala157Asp) c.338C>A (p.Ala113Asp) n.722C>A | gnomAD v4 |
X | g.18584269C= | CA2417968010 | CDKL5 | c.470C= (p.Ala157=) c.338C= (p.Ala113=) n.722C= | |
X | g.18584269C>G | CA412352129 | CDKL5 | c.470C>G (p.Ala157Gly) c.338C>G (p.Ala113Gly) n.722C>G | |
X | g.18584269C>T | CA279171 | CDKL5 | c.470C>T (p.Ala157Val) c.338C>T (p.Ala113Val) n.722C>T | ClinVar dbSNP gnomAD v4 |
X | g.18584270T>A | CA515470167 | CDKL5 | c.471T>A (p.Ala157=) c.339T>A (p.Ala113=) n.723T>A | |
X | g.18584270T>C | CA515470168 | CDKL5 | c.471T>C (p.Ala157=) c.339T>C (p.Ala113=) n.723T>C | |
X | g.18584270T>G | CA515470169 | CDKL5 | c.471T>G (p.Ala157=) c.339T>G (p.Ala113=) n.723T>G | |
X | g.18584271C>A | CA412352132 | CDKL5 | c.472C>A (p.Arg158Ser) c.340C>A (p.Arg114Ser) n.724C>A | |
X | g.18584271C>G | CA412352133 | CDKL5 | c.472C>G (p.Arg158Gly) c.340C>G (p.Arg114Gly) n.724C>G | |
X | g.18584271C>T | CA412352135 | CDKL5 | c.472C>T (p.Arg158Cys) c.340C>T (p.Arg114Cys) n.724C>T | gnomAD v4 |
X | g.18584272G>A | CA10360272 | CDKL5 | c.473G>A (p.Arg158His) c.341G>A (p.Arg114His) n.725G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584272G>C | CA199368 | CDKL5 | c.473G>C (p.Arg158Pro) c.341G>C (p.Arg114Pro) n.725G>C | ClinVar dbSNP COSMIC |
X | g.18584272G= | CA2417968011 | CDKL5 | c.473G= (p.Arg158=) c.341G= (p.Arg114=) n.725G= | |
X | g.18584272G>T | CA412352141 | CDKL5 | c.473G>T (p.Arg158Leu) c.341G>T (p.Arg114Leu) n.725G>T | |
X | g.18584273T>A | CA515470170 | CDKL5 | c.474T>A (p.Arg158=) c.342T>A (p.Arg114=) n.726T>A | |
X | g.18584273T>C | CA515470171 | CDKL5 | c.474T>C (p.Arg158=) c.342T>C (p.Arg114=) n.726T>C | |
X | g.18584273T>G | CA515470172 | CDKL5 | c.474T>G (p.Arg158=) c.342T>G (p.Arg114=) n.726T>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18584273T= | CA2417968012 | CDKL5 | c.474T= (p.Arg158=) c.342T= (p.Arg114=) n.726T= | |
X | g.18584274A>C | CA412352146 | CDKL5 | c.475A>C (p.Asn159His) c.343A>C (p.Asn115His) n.727A>C | |
X | g.18584274A>G | CA412352148 | CDKL5 | c.475A>G (p.Asn159Asp) c.343A>G (p.Asn115Asp) n.727A>G | |
X | g.18584274A>T | CA412352151 | CDKL5 | c.475A>T (p.Asn159Tyr) c.343A>T (p.Asn115Tyr) n.727A>T | |
X | g.18584275A>C | CA412352157 | CDKL5 | c.476A>C (p.Asn159Thr) c.344A>C (p.Asn115Thr) n.728A>C | |
X | g.18584275A>G | CA412352155 | CDKL5 | c.476A>G (p.Asn159Ser) c.344A>G (p.Asn115Ser) n.728A>G | |
X | g.18584275A>T | CA412352153 | CDKL5 | c.476A>T (p.Asn159Ile) c.344A>T (p.Asn115Ile) n.728A>T | |
X | g.18584276T>A | CA412352159 | CDKL5 | c.477T>A (p.Asn159Lys) c.345T>A (p.Asn115Lys) n.729T>A | |
X | g.18584276T>C | CA10360273 | CDKL5 | c.477T>C (p.Asn159=) c.345T>C (p.Asn115=) n.729T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584276T>G | CA412352162 | CDKL5 | c.477T>G (p.Asn159Lys) c.345T>G (p.Asn115Lys) n.729T>G | |
X | g.18584276T= | CA2417968013 | CDKL5 | c.477T= (p.Asn159=) c.345T= (p.Asn115=) n.729T= | |
X | g.18584277C>A | CA412352166 | CDKL5 | c.478C>A (p.Leu160Met) c.346C>A (p.Leu116Met) n.730C>A | |
X | g.18584277C>G | CA412352168 | CDKL5 | c.478C>G (p.Leu160Val) c.346C>G (p.Leu116Val) n.730C>G | |
X | g.18584277C>T | CA515470173 | CDKL5 | c.478C>T (p.Leu160=) c.346C>T (p.Leu116=) n.730C>T | |
X | g.18584278T>A | CA412352171 | CDKL5 | c.479T>A (p.Leu160Gln) c.347T>A (p.Leu116Gln) n.731T>A | |
X | g.18584278T>C | CA412352172 | CDKL5 | c.479T>C (p.Leu160Pro) c.347T>C (p.Leu116Pro) n.731T>C | gnomAD v4 |
X | g.18584278T>G | CA412352175 | CDKL5 | c.479T>G (p.Leu160Arg) c.347T>G (p.Leu116Arg) n.731T>G | |
X | g.18584279G>A | CA10360274 | CDKL5 | c.480G>A (p.Leu160=) c.348G>A (p.Leu116=) n.732G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584279G>C | CA515470175 | CDKL5 | c.480G>C (p.Leu160=) c.348G>C (p.Leu116=) n.732G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584279G= | CA2417968014 | CDKL5 | c.480G= (p.Leu160=) c.348G= (p.Leu116=) n.732G= | |
X | g.18584279G>T | CA515470174 | CDKL5 | c.480G>T (p.Leu160=) c.348G>T (p.Leu116=) n.732G>T | ClinVar dbSNP |
X | g.18584280T>A | CA412352179 | CDKL5 | c.481T>A (p.Ser161Thr) c.349T>A (p.Ser117Thr) n.733T>A | |
X | g.18584280T>C | CA412352182 | CDKL5 | c.481T>C (p.Ser161Pro) c.349T>C (p.Ser117Pro) n.733T>C | |
X | g.18584280T>G | CA412352185 | CDKL5 | c.481T>G (p.Ser161Ala) c.349T>G (p.Ser117Ala) n.733T>G | |
X | g.18584281del | CA2579562824 | CDKL5 | c.482del (p.Ser161Ter) c.350del (p.Ser117Ter) n.734del | |
X | g.18584281C>A | CA412352193 | CDKL5 | c.482C>A (p.Ser161Ter) c.350C>A (p.Ser117Ter) n.734C>A | |
X | g.18584281C>G | CA412352191 | CDKL5 | c.482C>G (p.Ser161Ter) c.350C>G (p.Ser117Ter) n.734C>G | |
X | g.18584281C>T | CA412352188 | CDKL5 | c.482C>T (p.Ser161Leu) c.350C>T (p.Ser117Leu) n.734C>T | |
X | g.18584282A>C | CA515470178 | CDKL5 | c.483A>C (p.Ser161=) c.351A>C (p.Ser117=) n.735A>C | |
X | g.18584282A>G | CA515470177 | CDKL5 | c.483A>G (p.Ser161=) c.351A>G (p.Ser117=) n.735A>G | |
X | g.18584282A>T | CA515470176 | CDKL5 | c.483A>T (p.Ser161=) c.351A>T (p.Ser117=) n.735A>T | |
X | g.18584283G>A | CA412352196 | CDKL5 | c.484G>A (p.Glu162Lys) c.352G>A (p.Glu118Lys) n.736G>A | |
X | g.18584283G>C | CA412352200 | CDKL5 | c.484G>C (p.Glu162Gln) c.352G>C (p.Glu118Gln) n.736G>C | |
X | g.18584283G>T | CA412352202 | CDKL5 | c.484G>T (p.Glu162Ter) c.352G>T (p.Glu118Ter) n.736G>T | |
X | g.18584284A>C | CA412352205 | CDKL5 | c.485A>C (p.Glu162Ala) c.353A>C (p.Glu118Ala) n.737A>C | |
X | g.18584284A>G | CA412352208 | CDKL5 | c.485A>G (p.Glu162Gly) c.353A>G (p.Glu118Gly) n.737A>G | |
X | g.18584284A>T | CA412352211 | CDKL5 | c.485A>T (p.Glu162Val) c.353A>T (p.Glu118Val) n.737A>T | |
X | g.18584285A= | CA2417968015 | CDKL5 | c.486A= (p.Glu162=) c.354A= (p.Glu118=) n.738A= | |
X | g.18584285A>C | CA10360275 | CDKL5 | c.486A>C (p.Glu162Asp) c.354A>C (p.Glu118Asp) n.738A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584285A>G | CA515470179 | CDKL5 | c.486A>G (p.Glu162=) c.354A>G (p.Glu118=) n.738A>G | |
X | g.18584285A>T | CA412352214 | CDKL5 | c.486A>T (p.Glu162Asp) c.354A>T (p.Glu118Asp) n.738A>T | |
X | g.18584286G>A | CA412352219 | CDKL5 | c.487G>A (p.Gly163Ser) c.355G>A (p.Gly119Ser) n.739G>A | |
X | g.18584286G>C | CA412352221 | CDKL5 | c.487G>C (p.Gly163Arg) c.355G>C (p.Gly119Arg) n.739G>C | |
X | g.18584286G>T | CA412352223 | CDKL5 | c.487G>T (p.Gly163Cys) c.355G>T (p.Gly119Cys) n.739G>T | |
X | g.18584287G>A | CA412352227 | CDKL5 | c.488G>A (p.Gly163Asp) c.356G>A (p.Gly119Asp) n.740G>A | |
X | g.18584287G>C | CA412352229 | CDKL5 | c.488G>C (p.Gly163Ala) c.356G>C (p.Gly119Ala) n.740G>C | |
X | g.18584287G>T | CA412352232 | CDKL5 | c.488G>T (p.Gly163Val) c.356G>T (p.Gly119Val) n.740G>T | |
X | g.18584288C>A | CA515470180 | CDKL5 | c.489C>A (p.Gly163=) c.357C>A (p.Gly119=) n.741C>A | |
X | g.18584288C>G | CA515470181 | CDKL5 | c.489C>G (p.Gly163=) c.357C>G (p.Gly119=) n.741C>G | |
X | g.18584288C>T | CA515470182 | CDKL5 | c.489C>T (p.Gly163=) c.357C>T (p.Gly119=) n.741C>T | |
X | g.18584289A>C | CA412352242 | CDKL5 | c.490A>C (p.Asn164His) c.358A>C (p.Asn120His) n.742A>C | |
X | g.18584289A>G | CA412352235 | CDKL5 | c.490A>G (p.Asn164Asp) c.358A>G (p.Asn120Asp) n.742A>G | gnomAD v4 |
X | g.18584289A>T | CA412352237 | CDKL5 | c.490A>T (p.Asn164Tyr) c.358A>T (p.Asn120Tyr) n.742A>T | |
X | g.18584290A>C | CA412352245 | CDKL5 | c.491A>C (p.Asn164Thr) c.359A>C (p.Asn120Thr) n.743A>C | |
X | g.18584290A>G | CA412352247 | CDKL5 | c.491A>G (p.Asn164Ser) c.359A>G (p.Asn120Ser) n.743A>G | gnomAD v4 |
X | g.18584290A>T | CA412352251 | CDKL5 | c.491A>T (p.Asn164Ile) c.359A>T (p.Asn120Ile) n.743A>T | |
X | g.18584291T>A | CA412352253 | CDKL5 | c.492T>A (p.Asn164Lys) c.360T>A (p.Asn120Lys) n.744T>A | |
X | g.18584291T>C | CA515470183 | CDKL5 | c.492T>C (p.Asn164=) c.360T>C (p.Asn120=) n.744T>C | |
X | g.18584291T>G | CA412352256 | CDKL5 | c.492T>G (p.Asn164Lys) c.360T>G (p.Asn120Lys) n.744T>G | |
X | g.18584292A>C | CA412352258 | CDKL5 | c.493A>C (p.Asn165His) c.361A>C (p.Asn121His) n.745A>C | |
X | g.18584292A>G | CA412352262 | CDKL5 | c.493A>G (p.Asn165Asp) c.361A>G (p.Asn121Asp) n.745A>G | |
X | g.18584292A>T | CA412352264 | CDKL5 | c.493A>T (p.Asn165Tyr) c.361A>T (p.Asn121Tyr) n.745A>T | |
X | g.18584293A= | CA2417968016 | CDKL5 | c.494A= (p.Asn165=) c.362A= (p.Asn121=) n.746A= | |
X | g.18584293A>C | CA412352268 | CDKL5 | c.494A>C (p.Asn165Thr) c.362A>C (p.Asn121Thr) n.746A>C | |
X | g.18584293A>G | CA412352270 | CDKL5 | c.494A>G (p.Asn165Ser) c.362A>G (p.Asn121Ser) n.746A>G | |
X | g.18584293A>T | CA412352273 | CDKL5 | c.494A>T (p.Asn165Ile) c.362A>T (p.Asn121Ile) n.746A>T | |
X | g.18584294T>A | CA412352275 | CDKL5 | c.495T>A (p.Asn165Lys) c.363T>A (p.Asn121Lys) n.747T>A | |
X | g.18584294T>C | CA515470184 | CDKL5 | c.495T>C (p.Asn165=) c.363T>C (p.Asn121=) n.747T>C | |
X | g.18584294T>G | CA412352276 | CDKL5 | c.495T>G (p.Asn165Lys) c.363T>G (p.Asn121Lys) n.747T>G | |
X | g.18584294dup | CA916083854 | CDKL5 | c.495dup (p.Ala166CysfsTer2) c.363dup (p.Ala122CysfsTer2) n.747dup | ClinVar dbSNP |
X | g.18584295G>A | CA412352278 | CDKL5 | c.496G>A (p.Ala166Thr) c.364G>A (p.Ala122Thr) n.748G>A | ClinVar dbSNP gnomAD v4 |
X | g.18584295G>C | CA412352284 | CDKL5 | c.496G>C (p.Ala166Pro) c.364G>C (p.Ala122Pro) n.748G>C | |
X | g.18584295G>T | CA412352281 | CDKL5 | c.496G>T (p.Ala166Ser) c.364G>T (p.Ala122Ser) n.748G>T | |
X | g.18584296C>A | CA412352287 | CDKL5 | c.497C>A (p.Ala166Asp) c.365C>A (p.Ala122Asp) n.749C>A | gnomAD v4 |
X | g.18584296C= | CA2417968017 | CDKL5 | c.497C= (p.Ala166=) c.365C= (p.Ala122=) n.749C= | |
X | g.18584296C>G | CA412352290 | CDKL5 | c.497C>G (p.Ala166Gly) c.365C>G (p.Ala122Gly) n.749C>G | dbSNP gnomAD v4 |
X | g.18584296C>T | CA412352293 | CDKL5 | c.497C>T (p.Ala166Val) c.365C>T (p.Ala122Val) n.749C>T | |
X | g.18584297T>A | CA515470185 | CDKL5 | c.498T>A (p.Ala166=) c.366T>A (p.Ala122=) n.750T>A | |
X | g.18584297T>C | CA515470186 | CDKL5 | c.498T>C (p.Ala166=) c.366T>C (p.Ala122=) n.750T>C | |
X | g.18584297T>G | CA515470187 | CDKL5 | c.498T>G (p.Ala166=) c.366T>G (p.Ala122=) n.750T>G | |
X | g.18584298A>C | CA412352297 | CDKL5 | c.499A>C (p.Asn167His) c.367A>C (p.Asn123His) n.751A>C | |
X | g.18584298A>G | CA412352299 | CDKL5 | c.499A>G (p.Asn167Asp) c.367A>G (p.Asn123Asp) n.751A>G | |
X | g.18584298A>T | CA412352300 | CDKL5 | c.499A>T (p.Asn167Tyr) c.367A>T (p.Asn123Tyr) n.751A>T | |
X | g.18584299del | CA2579562825 | CDKL5 | c.500del (p.Asn167IlefsTer?) c.368del (p.Asn123IlefsTer?) n.752del | |
X | g.18584299A>C | CA412352301 | CDKL5 | c.500A>C (p.Asn167Thr) c.368A>C (p.Asn123Thr) n.752A>C | |
X | g.18584299A>G | CA412352302 | CDKL5 | c.500A>G (p.Asn167Ser) c.368A>G (p.Asn123Ser) n.752A>G | |
X | g.18584299A>T | CA412352303 | CDKL5 | c.500A>T (p.Asn167Ile) c.368A>T (p.Asn123Ile) n.752A>T | |
X | g.18584300T>A | CA412352305 | CDKL5 | c.501T>A (p.Asn167Lys) c.369T>A (p.Asn123Lys) n.753T>A | |
X | g.18584300T>C | CA515470188 | CDKL5 | c.501T>C (p.Asn167=) c.369T>C (p.Asn123=) n.753T>C | |
X | g.18584300T>G | CA412352308 | CDKL5 | c.501T>G (p.Asn167Lys) c.369T>G (p.Asn123Lys) n.753T>G | |
X | g.18584301T>A | CA412352317 | CDKL5 | c.502T>A (p.Tyr168Asn) c.370T>A (p.Tyr124Asn) n.754T>A | |
X | g.18584301T>C | CA412352314 | CDKL5 | c.502T>C (p.Tyr168His) c.370T>C (p.Tyr124His) n.754T>C | |
X | g.18584301T>G | CA412352311 | CDKL5 | c.502T>G (p.Tyr168Asp) c.370T>G (p.Tyr124Asp) n.754T>G | |
X | g.18584301_18584303delinsTAC | CA2417968018 | CDKL5 | c.502_504delinsTAC (p.Tyr168=) c.370_372delinsTAC (p.Tyr124=) n.754_756delinsTAC |