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.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 | |
X | g.18584302A= | CA2417968019 | CDKL5 | c.503A= (p.Tyr168=) c.371A= (p.Tyr124=) n.755A= | |
X | g.18584302A>C | CA412352321 | CDKL5 | c.503A>C (p.Tyr168Ser) c.371A>C (p.Tyr124Ser) n.755A>C | |
X | g.18584302A>G | CA326984728 | CDKL5 | c.503A>G (p.Tyr168Cys) c.371A>G (p.Tyr124Cys) n.755A>G | dbSNP |
X | g.18584302A>T | CA412352326 | CDKL5 | c.503A>T (p.Tyr168Phe) c.371A>T (p.Tyr124Phe) n.755A>T | |
X | g.18584302dup | CA2740092041 | CDKL5 | c.503dup (p.Tyr168Ter) c.371dup (p.Tyr124Ter) n.755dup | ClinVar |
X | g.18584305_18584306del | CA199407 | CDKL5 | c.506_507del (p.Thr169ArgfsTer?) c.374_375del (p.Thr125ArgfsTer?) n.758_759del | ClinVar dbSNP |
X | g.18584303C>A | CA412352331 | CDKL5 | c.504C>A (p.Tyr168Ter) c.372C>A (p.Tyr124Ter) n.756C>A | gnomAD v4 |
X | g.18584303C>G | CA412352333 | CDKL5 | c.504C>G (p.Tyr168Ter) c.372C>G (p.Tyr124Ter) n.756C>G | |
X | g.18584303C>T | CA515470189 | CDKL5 | c.504C>T (p.Tyr168=) c.372C>T (p.Tyr124=) n.756C>T | |
X | g.18584304A>C | CA412352335 | CDKL5 | c.505A>C (p.Thr169Pro) c.373A>C (p.Thr125Pro) n.757A>C | |
X | g.18584304A>G | CA412352339 | CDKL5 | c.505A>G (p.Thr169Ala) c.373A>G (p.Thr125Ala) n.757A>G | |
X | g.18584304A>T | CA412352349 | CDKL5 | c.505A>T (p.Thr169Ser) c.373A>T (p.Thr125Ser) n.757A>T | |
X | g.18584305C>A | CA412352353 | CDKL5 | c.506C>A (p.Thr169Lys) c.374C>A (p.Thr125Lys) n.758C>A | gnomAD v4 |
X | g.18584305C>G | CA412352355 | CDKL5 | c.506C>G (p.Thr169Arg) c.374C>G (p.Thr125Arg) n.758C>G | |
X | g.18584305C>T | CA412352356 | CDKL5 | c.506C>T (p.Thr169Ile) c.374C>T (p.Thr125Ile) n.758C>T | |
X | g.18584306A= | CA2417968020 | CDKL5 | c.507A= (p.Thr169=) c.375A= (p.Thr125=) n.759A= | |
X | g.18584306A>C | CA515470190 | CDKL5 | c.507A>C (p.Thr169=) c.375A>C (p.Thr125=) n.759A>C | ClinVar dbSNP gnomAD v2 |
X | g.18584306A>G | CA515470191 | CDKL5 | c.507A>G (p.Thr169=) c.375A>G (p.Thr125=) n.759A>G | |
X | g.18584306A>T | CA515470192 | CDKL5 | c.507A>T (p.Thr169=) c.375A>T (p.Thr125=) n.759A>T | |
X | g.18584306dup | CA2580100395 | CDKL5 | c.507dup (p.Glu170ArgfsTer?) c.375dup (p.Glu126ArgfsTer?) n.759dup | ClinVar |
X | g.18584308_18584309del | CA2695231299 | CDKL5 | c.509_510del (p.Glu170ValfsTer?) c.377_378del (p.Glu126ValfsTer?) n.761_762del | |
X | g.18584307G>A | CA412352366 | CDKL5 | c.508G>A (p.Glu170Lys) c.376G>A (p.Glu126Lys) n.760G>A | gnomAD v4 |
X | g.18584307G>C | CA412352363 | CDKL5 | c.508G>C (p.Glu170Gln) c.376G>C (p.Glu126Gln) n.760G>C | |
X | g.18584307G= | CA2417968021 | CDKL5 | c.508G= (p.Glu170=) c.376G= (p.Glu126=) n.760G= | |
X | g.18584307G>T | CA412352360 | CDKL5 | c.508G>T (p.Glu170Ter) c.376G>T (p.Glu126Ter) n.760G>T | ClinVar dbSNP |
X | g.18584308A= | CA2417968022 | CDKL5 | c.509A= (p.Glu170=) c.377A= (p.Glu126=) n.761A= | |
X | g.18584308A>C | CA412352371 | CDKL5 | c.509A>C (p.Glu170Ala) c.377A>C (p.Glu126Ala) n.761A>C | |
X | g.18584308A>G | CA412352376 | CDKL5 | c.509A>G (p.Glu170Gly) c.377A>G (p.Glu126Gly) n.761A>G | |
X | g.18584308A>T | CA412352373 | CDKL5 | c.509A>T (p.Glu170Val) c.377A>T (p.Glu126Val) n.761A>T | |
X | g.18584309G>A | CA515470193 | CDKL5 | c.510G>A (p.Glu170=) c.378G>A (p.Glu126=) n.762G>A | |
X | g.18584309G>C | CA412352380 | CDKL5 | c.510G>C (p.Glu170Asp) c.378G>C (p.Glu126Asp) n.762G>C | |
X | g.18584309G>T | CA412352383 | CDKL5 | c.510G>T (p.Glu170Asp) c.378G>T (p.Glu126Asp) n.762G>T | |
X | g.18584309_18584310dup | CA199408 | CDKL5 | c.510_511dup (p.Tyr171CysfsTer?) c.378_379dup (p.Tyr127CysfsTer?) n.762_763dup | ClinVar dbSNP |
X | g.18584310T>A | CA412352386 | CDKL5 | c.511T>A (p.Tyr171Asn) c.379T>A (p.Tyr127Asn) n.763T>A | |
X | g.18584310T>C | CA412352392 | CDKL5 | c.511T>C (p.Tyr171His) c.379T>C (p.Tyr127His) n.763T>C | |
X | g.18584310T>G | CA412352389 | CDKL5 | c.511T>G (p.Tyr171Asp) c.379T>G (p.Tyr127Asp) n.763T>G | |
X | g.18584311A>C | CA412352395 | CDKL5 | c.512A>C (p.Tyr171Ser) c.380A>C (p.Tyr127Ser) n.764A>C | |
X | g.18584311A>G | CA412352398 | CDKL5 | c.512A>G (p.Tyr171Cys) c.380A>G (p.Tyr127Cys) n.764A>G | |
X | g.18584311A>T | CA412352400 | CDKL5 | c.512A>T (p.Tyr171Phe) c.380A>T (p.Tyr127Phe) n.764A>T | |
X | g.18584312C>A | CA171644 | CDKL5 | c.513C>A (p.Tyr171Ter) c.381C>A (p.Tyr127Ter) n.765C>A | ClinVar dbSNP |
X | g.18584312C= | CA2417968023 | CDKL5 | c.513C= (p.Tyr171=) c.381C= (p.Tyr127=) n.765C= | |
X | g.18584312C>G | CA412352405 | CDKL5 | c.513C>G (p.Tyr171Ter) c.381C>G (p.Tyr127Ter) n.765C>G | ClinVar dbSNP |
X | g.18584312C>T | CA326984734 | CDKL5 | c.513C>T (p.Tyr171=) c.381C>T (p.Tyr127=) n.765C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584313G>A | CA204612 | CDKL5 | c.514G>A (p.Val172Ile) c.382G>A (p.Val128Ile) n.766G>A | ClinVar dbSNP gnomAD v4 |
X | g.18584313G>C | CA412352410 | CDKL5 | c.514G>C (p.Val172Leu) c.382G>C (p.Val128Leu) n.766G>C | |
X | g.18584313G= | CA2417968024 | CDKL5 | c.514G= (p.Val172=) c.382G= (p.Val128=) n.766G= | |
X | g.18584313G>T | CA412352413 | CDKL5 | c.514G>T (p.Val172Phe) c.382G>T (p.Val128Phe) n.766G>T | |
X | g.18584314T>A | CA412352417 | CDKL5 | c.515T>A (p.Val172Asp) c.383T>A (p.Val128Asp) n.767T>A | |
X | g.18584314T>C | CA412352418 | CDKL5 | c.515T>C (p.Val172Ala) c.383T>C (p.Val128Ala) n.767T>C | |
X | g.18584314T>G | CA412352420 | CDKL5 | c.515T>G (p.Val172Gly) c.383T>G (p.Val128Gly) n.767T>G | ClinVar |
X | g.18584315T>A | CA515470194 | CDKL5 | c.516T>A (p.Val172=) c.384T>A (p.Val128=) n.768T>A | |
X | g.18584315T>C | CA515470195 | CDKL5 | c.516T>C (p.Val172=) c.384T>C (p.Val128=) n.768T>C | |
X | g.18584315T>G | CA515470196 | CDKL5 | c.516T>G (p.Val172=) c.384T>G (p.Val128=) n.768T>G | |
X | g.18584316G>A | CA412352430 | CDKL5 | c.517G>A (p.Ala173Thr) c.385G>A (p.Ala129Thr) n.769G>A | |
X | g.18584316G>C | CA412352424 | CDKL5 | c.517G>C (p.Ala173Pro) c.385G>C (p.Ala129Pro) n.769G>C | |
X | g.18584316G>T | CA412352427 | CDKL5 | c.517G>T (p.Ala173Ser) c.385G>T (p.Ala129Ser) n.769G>T | |
X | g.18584317C>A | CA412352434 | CDKL5 | c.518C>A (p.Ala173Asp) c.386C>A (p.Ala129Asp) n.770C>A | |
X | g.18584317C>G | CA412352435 | CDKL5 | c.518C>G (p.Ala173Gly) c.386C>G (p.Ala129Gly) n.770C>G | |
X | g.18584317C>T | CA412352437 | CDKL5 | c.518C>T (p.Ala173Val) c.386C>T (p.Ala129Val) n.770C>T | |
X | g.18584318del | CA2579562826 | CDKL5 | c.519del (p.Thr174ProfsTer?) c.387del (p.Thr130ProfsTer?) n.771del | gnomAD v4 |
X | g.18584318C>A | CA515470197 | CDKL5 | c.519C>A (p.Ala173=) c.387C>A (p.Ala129=) n.771C>A | |
X | g.18584318C>G | CA515470198 | CDKL5 | c.519C>G (p.Ala173=) c.387C>G (p.Ala129=) n.771C>G | |
X | g.18584318C>T | CA515470199 | CDKL5 | c.519C>T (p.Ala173=) c.387C>T (p.Ala129=) n.771C>T | |
X | g.18584318_18584319delinsCA | CA2417968025 | CDKL5 | c.519_520delinsCA (p.Ala173=) c.387_388delinsCA (p.Ala129=) n.771_772delinsCA | |
X | g.18584319del | CA915950761 | CDKL5 | c.520del (p.Thr174ProfsTer?) c.388del (p.Thr130ProfsTer?) n.772del | ClinVar dbSNP |
X | g.18584319A>C | CA412352439 | CDKL5 | c.520A>C (p.Thr174Pro) c.388A>C (p.Thr130Pro) n.772A>C | |
X | g.18584319A>G | CA412352441 | CDKL5 | c.520A>G (p.Thr174Ala) c.388A>G (p.Thr130Ala) n.772A>G | ClinVar |
X | g.18584319A>T | CA412352442 | CDKL5 | c.520A>T (p.Thr174Ser) c.388A>T (p.Thr130Ser) n.772A>T | |
X | g.18584320C>A | CA412352444 | CDKL5 | c.521C>A (p.Thr174Asn) c.389C>A (p.Thr130Asn) n.773C>A | gnomAD v4 |
X | g.18584320C>G | CA412352446 | CDKL5 | c.521C>G (p.Thr174Ser) c.389C>G (p.Thr130Ser) n.773C>G | |
X | g.18584320C>T | CA412352447 | CDKL5 | c.521C>T (p.Thr174Ile) c.389C>T (p.Thr130Ile) n.773C>T | |
X | g.18584321del | CA2579562827 | CDKL5 | c.522del (p.Arg175AspfsTer?) c.390del (p.Arg131AspfsTer?) n.774del | |
X | g.18584321C>A | CA515470201 | CDKL5 | c.522C>A (p.Thr174=) c.390C>A (p.Thr130=) n.774C>A | |
X | g.18584321C>G | CA515470202 | CDKL5 | c.522C>G (p.Thr174=) c.390C>G (p.Thr130=) n.774C>G | |
X | g.18584321C>T | CA515470200 | CDKL5 | c.522C>T (p.Thr174=) c.390C>T (p.Thr130=) n.774C>T | |
X | g.18584322A= | CA2417968026 | CDKL5 | c.523A= (p.Arg175=) c.391A= (p.Arg131=) n.775A= | |
X | g.18584322A>C | CA515470203 | CDKL5 | c.523A>C (p.Arg175=) c.391A>C (p.Arg131=) n.775A>C | |
X | g.18584322A>G | CA412352449 | CDKL5 | c.523A>G (p.Arg175Gly) c.391A>G (p.Arg131Gly) n.775A>G | ClinVar dbSNP |
X | g.18584322A>T | CA412352451 | CDKL5 | c.523A>T (p.Arg175Ter) c.391A>T (p.Arg131Ter) n.775A>T | |
X | g.18584323G>A | CA412352455 | CDKL5 | c.524G>A (p.Arg175Lys) c.392G>A (p.Arg131Lys) n.776G>A | ClinVar |
X | g.18584323G>C | CA412352453 | CDKL5 | c.524G>C (p.Arg175Thr) c.392G>C (p.Arg131Thr) n.776G>C | ClinVar dbSNP |
X | g.18584323G= | CA2417968027 | CDKL5 | c.524G= (p.Arg175=) c.392G= (p.Arg131=) n.776G= | |
X | g.18584323G>T | CA16621270 | CDKL5 | c.524G>T (p.Arg175Ile) c.392G>T (p.Arg131Ile) n.776G>T | ClinVar dbSNP |
X | g.18584324A= | CA2417968028 | CDKL5 | c.525A= (p.Arg175=) c.393A= (p.Arg131=) n.777A= | |
X | g.18584324A>C | CA412352458 | CDKL5 | c.525A>C (p.Arg175Ser) c.393A>C (p.Arg131Ser) n.777A>C | |
X | g.18584324A>G | CA515470204 | CDKL5 | c.525A>G (p.Arg175=) c.393A>G (p.Arg131=) n.777A>G | |
X | g.18584324A>T | CA121517 | CDKL5 | c.525A>T (p.Arg175Ser) c.393A>T (p.Arg131Ser) n.777A>T | ClinVar dbSNP |
X | g.18584325T>A | CA294603 | CDKL5 | c.526T>A (p.Trp176Arg) c.394T>A (p.Trp132Arg) n.778T>A | ClinVar dbSNP |
X | g.18584325T>C | CA171646 | CDKL5 | c.526T>C (p.Trp176Arg) c.394T>C (p.Trp132Arg) n.778T>C | ClinVar dbSNP |
X | g.18584325T>G | CA199409 | CDKL5 | c.526T>G (p.Trp176Gly) c.394T>G (p.Trp132Gly) n.778T>G | ClinVar dbSNP |
X | g.18584325T= | CA2417968029 | CDKL5 | c.526T= (p.Trp176=) c.394T= (p.Trp132=) n.778T= | |
X | g.18584326G>A | CA412352463 | CDKL5 | c.527G>A (p.Trp176Ter) c.395G>A (p.Trp132Ter) n.779G>A | ClinVar dbSNP |
X | g.18584326G>C | CA412352465 | CDKL5 | c.527G>C (p.Trp176Ser) c.395G>C (p.Trp132Ser) n.779G>C | |
X | g.18584326G>T | CA412352467 | CDKL5 | c.527G>T (p.Trp176Leu) c.395G>T (p.Trp132Leu) n.779G>T | |
X | g.18584329_18584334del | CA2580617640 | CDKL5 | c.530_535del (p.Tyr177_Arg178del) c.398_403del (p.Tyr133_Arg134del) n.782_787del | ClinVar |
X | g.18584327G>A | CA412352468 | CDKL5 | c.528G>A (p.Trp176Ter) c.396G>A (p.Trp132Ter) n.780G>A | |
X | g.18584327G>C | CA412352470 | CDKL5 | c.528G>C (p.Trp176Cys) c.396G>C (p.Trp132Cys) n.780G>C | |
X | g.18584327G= | CA2417968030 | CDKL5 | c.528G= (p.Trp176=) c.396G= (p.Trp132=) n.780G= | |
X | g.18584327G>T | CA199411 | CDKL5 | c.528G>T (p.Trp176Cys) c.396G>T (p.Trp132Cys) n.780G>T | ClinVar dbSNP |
X | g.18584328T>A | CA412352473 | CDKL5 | c.529T>A (p.Tyr177Asn) c.397T>A (p.Tyr133Asn) n.781T>A | |
X | g.18584328T>C | CA412352475 | CDKL5 | c.529T>C (p.Tyr177His) c.397T>C (p.Tyr133His) n.781T>C | |
X | g.18584328T>G | CA412352478 | CDKL5 | c.529T>G (p.Tyr177Asp) c.397T>G (p.Tyr133Asp) n.781T>G | |
X | g.18584329A>C | CA412352484 | CDKL5 | c.530A>C (p.Tyr177Ser) c.398A>C (p.Tyr133Ser) n.782A>C | |
X | g.18584329A>G | CA412352481 | CDKL5 | c.530A>G (p.Tyr177Cys) c.398A>G (p.Tyr133Cys) n.782A>G | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.18584329A>T | CA412352482 | CDKL5 | c.530A>T (p.Tyr177Phe) c.398A>T (p.Tyr133Phe) n.782A>T | |
X | g.18584330T>A | CA412352486 | CDKL5 | c.531T>A (p.Tyr177Ter) c.399T>A (p.Tyr133Ter) n.783T>A | |
X | g.18584330T>C | CA515470205 | CDKL5 | c.531T>C (p.Tyr177=) c.399T>C (p.Tyr133=) n.783T>C | |
X | g.18584330T>G | CA412352488 | CDKL5 | c.531T>G (p.Tyr177Ter) c.399T>G (p.Tyr133Ter) n.783T>G | |
X | g.18584332_18584335dup | CA2580100396 | CDKL5 | c.533_536dup (p.Pro180ValfsTer27) c.401_404dup (p.Pro136ValfsTer27) n.785_788dup | ClinVar |
X | g.18584331C>A | CA10360276 | CDKL5 | c.532C>A (p.Arg178=) c.400C>A (p.Arg134=) n.784C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584331C= | CA2417968031 | CDKL5 | c.532C= (p.Arg178=) c.400C= (p.Arg134=) n.784C= | |
X | g.18584331C>G | CA412352491 | CDKL5 | c.532C>G (p.Arg178Gly) c.400C>G (p.Arg134Gly) n.784C>G | ClinVar dbSNP |
X | g.18584331C>T | CA199283 | CDKL5 | c.532C>T (p.Arg178Trp) c.400C>T (p.Arg134Trp) n.784C>T | ClinVar dbSNP gnomAD v4 |
X | g.18584332G>A | CA199289 | CDKL5 | c.533G>A (p.Arg178Gln) c.401G>A (p.Arg134Gln) n.785G>A | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.18584332G>C | CA121529 | CDKL5 | c.533G>C (p.Arg178Pro) c.401G>C (p.Arg134Pro) n.785G>C | ClinVar dbSNP |
X | g.18584332G= | CA2417968032 | CDKL5 | c.533G= (p.Arg178=) c.401G= (p.Arg134=) n.785G= | |
X | g.18584332G>T | CA412352495 | CDKL5 | c.533G>T (p.Arg178Leu) c.401G>T (p.Arg134Leu) n.785G>T | ClinVar |
X | g.18584333G>A | CA10360277 | CDKL5 | c.534G>A (p.Arg178=) c.402G>A (p.Arg134=) n.786G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584333G>C | CA515470206 | CDKL5 | c.534G>C (p.Arg178=) c.402G>C (p.Arg134=) n.786G>C | |
X | g.18584333G= | CA2417968033 | CDKL5 | c.534G= (p.Arg178=) c.402G= (p.Arg134=) n.786G= | |
X | g.18584333G>T | CA515470207 | CDKL5 | c.534G>T (p.Arg178=) c.402G>T (p.Arg134=) n.786G>T | |
X | g.18584334T>A | CA412352497 | CDKL5 | c.535T>A (p.Ser179Thr) c.403T>A (p.Ser135Thr) n.787T>A | |
X | g.18584334T>C | CA412352499 | CDKL5 | c.535T>C (p.Ser179Pro) c.403T>C (p.Ser135Pro) n.787T>C | |
X | g.18584334T>G | CA412352500 | CDKL5 | c.535T>G (p.Ser179Ala) c.403T>G (p.Ser135Ala) n.787T>G | |
X | g.18584335C>A | CA412352504 | CDKL5 | c.536C>A (p.Ser179Tyr) c.404C>A (p.Ser135Tyr) n.788C>A | |
X | g.18584335C>G | CA412352506 | CDKL5 | c.536C>G (p.Ser179Cys) c.404C>G (p.Ser135Cys) n.788C>G | |
X | g.18584335C>T | CA412352502 | CDKL5 | c.536C>T (p.Ser179Phe) c.404C>T (p.Ser135Phe) n.788C>T | |
X | g.18584338del | CA2579562828 | CDKL5 | c.539del (p.Pro180GlnfsTer?) c.407del (p.Pro136GlnfsTer?) n.791del | |
X | g.18584337_18584338del | CA2579562829 | CDKL5 | c.538_539del (p.Pro180ArgfsTer25) c.406_407del (p.Pro136ArgfsTer25) n.790_791del | |
X | g.18584336C>A | CA515470208 | CDKL5 | c.537C>A (p.Ser179=) c.405C>A (p.Ser135=) n.789C>A | |
X | g.18584336C>G | CA515470209 | CDKL5 | c.537C>G (p.Ser179=) c.405C>G (p.Ser135=) n.789C>G | |
X | g.18584336C>T | CA515470210 | CDKL5 | c.537C>T (p.Ser179=) c.405C>T (p.Ser135=) n.789C>T | |
X | g.18584337C>A | CA412352508 | CDKL5 | c.538C>A (p.Pro180Thr) c.406C>A (p.Pro136Thr) n.790C>A | |
X | g.18584337C>G | CA412352512 | CDKL5 | c.538C>G (p.Pro180Ala) c.406C>G (p.Pro136Ala) n.790C>G | |
X | g.18584337C>T | CA412352510 | CDKL5 | c.538C>T (p.Pro180Ser) c.406C>T (p.Pro136Ser) n.790C>T | ClinVar |
X | g.18584338C>A | CA412352515 | CDKL5 | c.539C>A (p.Pro180Gln) c.407C>A (p.Pro136Gln) n.791C>A | |
X | g.18584338C= | CA2417968034 | CDKL5 | c.539C= (p.Pro180=) c.407C= (p.Pro136=) n.791C= | |
X | g.18584338C>G | CA412352517 | CDKL5 | c.539C>G (p.Pro180Arg) c.407C>G (p.Pro136Arg) n.791C>G | |
X | g.18584338C>T | CA170494 | CDKL5 | c.539C>T (p.Pro180Leu) c.407C>T (p.Pro136Leu) n.791C>T | ClinVar dbSNP gnomAD v4 |
X | g.18584339A>C | CA515470211 | CDKL5 | c.540A>C (p.Pro180=) c.408A>C (p.Pro136=) n.792A>C | |
X | g.18584339A>G | CA515470212 | CDKL5 | c.540A>G (p.Pro180=) c.408A>G (p.Pro136=) n.792A>G | gnomAD v4 |
X | g.18584339A>T | CA515470213 | CDKL5 | c.540A>T (p.Pro180=) c.408A>T (p.Pro136=) n.792A>T | |
X | g.18584340G>A | CA247610 | CDKL5 | c.541G>A (p.Glu181Lys) c.409G>A (p.Glu137Lys) n.793G>A | ClinVar dbSNP |
X | g.18584340G>C | CA412352521 | CDKL5 | c.541G>C (p.Glu181Gln) c.409G>C (p.Glu137Gln) n.793G>C | |
X | g.18584340G= | CA2417968035 | CDKL5 | c.541G= (p.Glu181=) c.409G= (p.Glu137=) n.793G= | |
X | g.18584340G>T | CA412352523 | CDKL5 | c.541G>T (p.Glu181Ter) c.409G>T (p.Glu137Ter) n.793G>T | |
X | g.18584341A= | CA2417968036 | CDKL5 | c.542A= (p.Glu181=) c.410A= (p.Glu137=) n.794A= | |
X | g.18584341A>C | CA294604 | CDKL5 | c.542A>C (p.Glu181Ala) c.410A>C (p.Glu137Ala) n.794A>C | ClinVar dbSNP |
X | g.18584341A>G | CA412352526 | CDKL5 | c.542A>G (p.Glu181Gly) c.410A>G (p.Glu137Gly) n.794A>G | |
X | g.18584341A>T | CA412352528 | CDKL5 | c.542A>T (p.Glu181Val) c.410A>T (p.Glu137Val) n.794A>T | |
X | g.18584342A>C | CA412352530 | CDKL5 | c.543A>C (p.Glu181Asp) c.411A>C (p.Glu137Asp) n.795A>C | |
X | g.18584342A>G | CA515470214 | CDKL5 | c.543A>G (p.Glu181=) c.411A>G (p.Glu137=) n.795A>G | |
X | g.18584342A>T | CA412352531 | CDKL5 | c.543A>T (p.Glu181Asp) c.411A>T (p.Glu137Asp) n.795A>T | |
X | g.18584343C>A | CA412352542 | CDKL5 | c.544C>A (p.Leu182Ile) c.412C>A (p.Leu138Ile) n.796C>A | gnomAD v4 |
X | g.18584343C= | CA2417968037 | CDKL5 | c.544C= (p.Leu182=) c.412C= (p.Leu138=) n.796C= | |
X | g.18584343C>G | CA412352540 | CDKL5 | c.544C>G (p.Leu182Val) c.412C>G (p.Leu138Val) n.796C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18584343C>T | CA412352535 | CDKL5 | c.544C>T (p.Leu182Phe) c.412C>T (p.Leu138Phe) n.796C>T | |
X | g.18584344T>A | CA412352544 | CDKL5 | c.545T>A (p.Leu182His) c.413T>A (p.Leu138His) n.797T>A | |
X | g.18584344T>C | CA412352546 | CDKL5 | c.545T>C (p.Leu182Pro) c.413T>C (p.Leu138Pro) n.797T>C | ClinVar dbSNP gnomAD v4 |
X | g.18584344T>G | CA412352548 | CDKL5 | c.545T>G (p.Leu182Arg) c.413T>G (p.Leu138Arg) n.797T>G | |
X | g.18584344_18584348delinsTCTTA | CA2417968038 | CDKL5 | c.545_549delinsTCTTA (p.Leu182=) c.413_417delinsTCTTA (p.Leu138=) n.797_801delinsTCTTA | |
X | g.18584345C>A | CA515470215 | CDKL5 | c.546C>A (p.Leu182=) c.414C>A (p.Leu138=) n.798C>A | gnomAD v4 |
X | g.18584345C>G | CA515470216 | CDKL5 | c.546C>G (p.Leu182=) c.414C>G (p.Leu138=) n.798C>G | |
X | g.18584345C>T | CA515470217 | CDKL5 | c.546C>T (p.Leu182=) c.414C>T (p.Leu138=) n.798C>T | ClinVar dbSNP |
X | g.18584348_18584351del | CA294678 | CDKL5 | c.549_552del (p.Leu184AlafsTer?) c.417_420del (p.Leu140AlafsTer?) n.801_804del | ClinVar dbSNP |
X | g.18584346T>A | CA412352550 | CDKL5 | c.547T>A (p.Leu183Ile) c.415T>A (p.Leu139Ile) n.799T>A | |
X | g.18584346T>C | CA515470218 | CDKL5 | c.547T>C (p.Leu183=) c.415T>C (p.Leu139=) n.799T>C | gnomAD v4 |
X | g.18584346T>G | CA412352551 | CDKL5 | c.547T>G (p.Leu183Val) c.415T>G (p.Leu139Val) n.799T>G | |
X | g.18584347T>A | CA412352553 | CDKL5 | c.548T>A (p.Leu183Ter) c.416T>A (p.Leu139Ter) n.800T>A | |
X | g.18584347T>C | CA412352554 | CDKL5 | c.548T>C (p.Leu183Ser) c.416T>C (p.Leu139Ser) n.800T>C | |
X | g.18584347T>G | CA412352556 | CDKL5 | c.548T>G (p.Leu183Ter) c.416T>G (p.Leu139Ter) n.800T>G | |
X | g.18584347T= | CA2417968039 | CDKL5 | c.548T= (p.Leu183=) c.416T= (p.Leu139=) n.800T= | |
X | g.18584348A>C | CA412352558 | CDKL5 | c.549A>C (p.Leu183Phe) c.417A>C (p.Leu139Phe) n.801A>C | |
X | g.18584348A>G | CA515470219 | CDKL5 | c.549A>G (p.Leu183=) c.417A>G (p.Leu139=) n.801A>G | |
X | g.18584348A>T | CA412352560 | CDKL5 | c.549A>T (p.Leu183Phe) c.417A>T (p.Leu139Phe) n.801A>T | |
X | g.18584348dup | CA205919 | CDKL5 | c.549dup (p.Leu184ThrfsTer22) c.417dup (p.Leu140ThrfsTer22) n.801dup | ClinVar dbSNP |
X | g.18584349C>A | CA412352567 | CDKL5 | c.550C>A (p.Leu184Ile) c.418C>A (p.Leu140Ile) n.802C>A | gnomAD v4 |
X | g.18584349C>G | CA412352564 | CDKL5 | c.550C>G (p.Leu184Val) c.418C>G (p.Leu140Val) n.802C>G | |
X | g.18584349C>T | CA412352562 | CDKL5 | c.550C>T (p.Leu184Phe) c.418C>T (p.Leu140Phe) n.802C>T | |
X | g.18584350T>A | CA412352569 | CDKL5 | c.551T>A (p.Leu184His) c.419T>A (p.Leu140His) n.803T>A | |
X | g.18584350T>C | CA412352571 | CDKL5 | c.551T>C (p.Leu184Pro) c.419T>C (p.Leu140Pro) n.803T>C | gnomAD v4 |
X | g.18584350T>G | CA412352573 | CDKL5 | c.551T>G (p.Leu184Arg) c.419T>G (p.Leu140Arg) n.803T>G | |
X | g.18584350T= | CA2417968040 | CDKL5 | c.551T= (p.Leu184=) c.419T= (p.Leu140=) n.803T= | |
X | g.18584351del | CA2579562830 | CDKL5 | c.552del (p.Gly185AlafsTer?) c.420del (p.Gly141AlafsTer?) n.804del | gnomAD v4 |
X | g.18584350_18584351insACCTCTGTGTCATTTTTGTACATTATAGCAGAACTAAA | CA2417968041 | CDKL5 | c.551_552insACCTCTGTGTCATTTTTGTACATTATAGCAGAACTAAA (p.Gly185ProfsTer9) c.419_420insACCTCTGTGTCATTTTTGTACATTATAGCAGAACTAAA (p.Gly141ProfsTer9) n.803_804insACCTCTGTGTCATTTTTGTACATTATAGCAGAACTAAA | dbSNP |
X | g.18584351T>A | CA515470220 | CDKL5 | c.552T>A (p.Leu184=) c.420T>A (p.Leu140=) n.804T>A | |
X | g.18584351T>C | CA515470221 | CDKL5 | c.552T>C (p.Leu184=) c.420T>C (p.Leu140=) n.804T>C | gnomAD v4 |
X | g.18584351T>G | CA515470222 | CDKL5 | c.552T>G (p.Leu184=) c.420T>G (p.Leu140=) n.804T>G | |
X | g.18584352G>A | CA412352575 | CDKL5 | c.553G>A (p.Gly185Ser) c.421G>A (p.Gly141Ser) n.805G>A | gnomAD v4 |
X | g.18584352G>C | CA412352576 | CDKL5 | c.553G>C (p.Gly185Arg) c.421G>C (p.Gly141Arg) n.805G>C | |
X | g.18584352G>T | CA412352578 | CDKL5 | c.553G>T (p.Gly185Cys) c.421G>T (p.Gly141Cys) n.805G>T | |
X | g.18584354del | CA2695231306 | CDKL5 | c.554+1del c.422+1del n.806+1del | |
X | g.18584353_18584354del | CA2693221653 | CDKL5 | c.554_554+1del c.422_422+1del n.806_806+1del | gnomAD v4 |
X | g.18584353G>A | CA412352580 | CDKL5 | c.554G>A (p.Gly185Asp) c.422G>A (p.Gly141Asp) n.806G>A | |
X | g.18584353G>C | CA412352582 | CDKL5 | c.554G>C (p.Gly185Ala) c.422G>C (p.Gly141Ala) n.806G>C | |
X | g.18584353G>T | CA412352583 | CDKL5 | c.554G>T (p.Gly185Val) c.422G>T (p.Gly141Val) n.806G>T | |
X | g.18584354G>A | CA412352585 | CDKL5 | c.554+1G>A (n.554+1G>A) c.422+1G>A (n.422+1G>A) n.806+1G>A | ClinVar dbSNP gnomAD v4 |
X | g.18584354G>C | CA412352586 | CDKL5 | c.554+1G>C (n.554+1G>C) c.422+1G>C (n.422+1G>C) n.806+1G>C | |
X | g.18584354G= | CA2417968042 | CDKL5 | c.554+1G= (n.554+1G=) c.422+1G= (n.422+1G=) n.806+1G= | |
X | g.18584354G>T | CA412352589 | CDKL5 | c.554+1G>T (n.554+1G>T) c.422+1G>T (n.422+1G>T) n.806+1G>T | |
X | g.18584355T>A | CA412352598 | CDKL5 | c.554+2T>A (n.554+2T>A) c.422+2T>A (n.422+2T>A) n.806+2T>A | gnomAD v4 |
X | g.18584355T>C | CA412352594 | CDKL5 | c.554+2T>C (n.554+2T>C) c.422+2T>C (n.422+2T>C) n.806+2T>C | ClinVar gnomAD v4 |
X | g.18584355T>G | CA412352596 | CDKL5 | c.554+2T>G (n.554+2T>G) c.422+2T>G (n.422+2T>G) n.806+2T>G | gnomAD v4 |
X | g.18584356del | CA2693221654 | CDKL5 | c.554+3del (n.554+3del) c.422+3del (n.422+3del) n.806+3del | gnomAD v4 |
X | g.18584356G>A | CA2505211004 | CDKL5 | c.554+3G>A (n.554+3G>A) c.422+3G>A (n.422+3G>A) n.806+3G>A | gnomAD v4 |
X | g.18584357A>G | CA2499226533 | CDKL5 | c.554+4A>G (n.554+4A>G) c.422+4A>G (n.422+4A>G) n.806+4A>G | ClinVar dbSNP gnomAD v4 |
X | g.18584357A>T | CA2693221655 | CDKL5 | c.554+4A>T (n.554+4A>T) c.422+4A>T (n.422+4A>T) n.806+4A>T | gnomAD v4 |
X | g.18584358G>A | CA2417968044 | CDKL5 | c.554+5G>A (n.554+5G>A) c.422+5G>A (n.422+5G>A) n.806+5G>A | ClinVar dbSNP gnomAD v4 |
X | g.18584358G= | CA2417968043 | CDKL5 | c.554+5G= (n.554+5G=) c.422+5G= (n.422+5G=) n.806+5G= | |
X | g.18584360_18584365del | CA2693221656 | CDKL5 | c.554+7_554+12del (n.554+7_554+12del) c.422+7_422+12del (n.422+7_422+12del) n.806+7_806+12del | gnomAD v4 |
X | g.18584360del | CA2579562831 | CDKL5 | c.554+7del (n.554+7del) c.422+7del (n.422+7del) n.806+7del | gnomAD v4 |
X | g.18584361A>G | CA2693221657 | CDKL5 | c.554+8A>G (n.554+8A>G) c.422+8A>G (n.422+8A>G) n.806+8A>G | gnomAD v4 |
X | g.18584362C>A | CA2693221658 | CDKL5 | c.554+9C>A (n.554+9C>A) c.422+9C>A (n.422+9C>A) n.806+9C>A | gnomAD v4 |
X | g.18584362C>T | CA2693221659 | CDKL5 | c.554+9C>T (n.554+9C>T) c.422+9C>T (n.422+9C>T) n.806+9C>T | gnomAD v4 |
X | g.18584363C>A | CA2693221660 | CDKL5 | c.554+10C>A (n.554+10C>A) c.422+10C>A (n.422+10C>A) n.806+10C>A | gnomAD v4 |
X | g.18584363C= | CA2417968045 | CDKL5 | c.554+10C= (n.554+10C=) c.422+10C= (n.422+10C=) n.806+10C= | |
X | g.18584363C>T | CA10360278 | CDKL5 | c.554+10C>T (n.554+10C>T) c.422+10C>T (n.422+10C>T) n.806+10C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584364G>A | CA199351 | CDKL5 | c.554+11G>A (n.554+11G>A) c.422+11G>A (n.422+11G>A) n.806+11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584364G= | CA2417968046 | CDKL5 | c.554+11G= (n.554+11G=) c.422+11G= (n.422+11G=) n.806+11G= | |
X | g.18584365T>C | CA2693221661 | CDKL5 | c.554+12T>C (n.554+12T>C) c.422+12T>C (n.422+12T>C) n.806+12T>C | gnomAD v4 |
X | g.18584366C>A | CA640510067 | CDKL5 | c.554+13C>A (n.554+13C>A) c.422+13C>A (n.422+13C>A) n.806+13C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18584366C= | CA2417968047 | CDKL5 | c.554+13C= (n.554+13C=) c.422+13C= (n.422+13C=) n.806+13C= | |
X | g.18584368del | CA2537959728 | CDKL5 | c.554+15del (n.554+15del) c.422+15del (n.422+15del) n.806+15del | gnomAD v4 |
X | g.18584367C>A | CA2693221662 | CDKL5 | c.554+14C>A (n.554+14C>A) c.422+14C>A (n.422+14C>A) n.806+14C>A | gnomAD v4 |
X | g.18584368C>A | CA2693221664 | CDKL5 | c.554+15C>A (n.554+15C>A) c.422+15C>A (n.422+15C>A) n.806+15C>A | gnomAD v4 |
X | g.18584368C>T | CA2693221663 | CDKL5 | c.554+15C>T (n.554+15C>T) c.422+15C>T (n.422+15C>T) n.806+15C>T | gnomAD v4 |
X | g.18584369A>C | CA2693221665 | CDKL5 | c.554+16A>C (n.554+16A>C) c.422+16A>C (n.422+16A>C) n.806+16A>C | gnomAD v4 |
X | g.18584369A>G | CA2693221666 | CDKL5 | c.554+16A>G (n.554+16A>G) c.422+16A>G (n.422+16A>G) n.806+16A>G | gnomAD v4 |
X | g.18584372del | CA2693221667 | CDKL5 | c.554+19del (n.554+19del) c.422+19del (n.422+19del) n.806+19del | gnomAD v4 |
X | g.18584370A>G | CA2580100399 | CDKL5 | c.554+17A>G (n.554+17A>G) c.422+17A>G (n.422+17A>G) n.806+17A>G | ClinVar gnomAD v4 |
X | g.18584371A>G | CA2693221668 | CDKL5 | c.554+18A>G (n.554+18A>G) c.422+18A>G (n.422+18A>G) n.806+18A>G | gnomAD v4 |
X | g.18584372A= | CA2417968048 | CDKL5 | c.554+19A= (n.554+19A=) c.422+19A= (n.422+19A=) n.806+19A= | |
X | g.18584372A>G | CA326984773 | CDKL5 | c.554+19A>G (n.554+19A>G) c.422+19A>G (n.422+19A>G) n.806+19A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18584373T>C | CA2693221669 | CDKL5 | c.554+20T>C (n.554+20T>C) c.422+20T>C (n.422+20T>C) n.806+20T>C | gnomAD v4 |
X | g.18584374A>G | CA2693221670 | CDKL5 | c.554+21A>G (n.554+21A>G) c.422+21A>G (n.422+21A>G) n.806+21A>G | gnomAD v4 |
X | g.18584375G>A | CA2693221671 | CDKL5 | c.554+22G>A (n.554+22G>A) c.422+22G>A (n.422+22G>A) n.806+22G>A | gnomAD v4 |
X | g.18584376A>G | CA2693221672 | CDKL5 | c.554+23A>G (n.554+23A>G) c.422+23A>G (n.422+23A>G) n.806+23A>G | gnomAD v4 |
X | g.18584377A>G | CA2693221673 | CDKL5 | c.554+24A>G (n.554+24A>G) c.422+24A>G (n.422+24A>G) n.806+24A>G | gnomAD v4 |
X | g.18584378T>C | CA2417968051 | CDKL5 | c.554+25T>C (n.554+25T>C) c.422+25T>C (n.422+25T>C) n.806+25T>C | dbSNP |
X | g.18584378T>G | CA2417968050 | CDKL5 | c.554+25T>G (n.554+25T>G) c.422+25T>G (n.422+25T>G) n.806+25T>G | dbSNP gnomAD v4 |
X | g.18584378T= | CA2417968049 | CDKL5 | c.554+25T= (n.554+25T=) c.422+25T= (n.422+25T=) n.806+25T= | |
X | g.18584379G>A | CA2693221674 | CDKL5 | c.554+26G>A (n.554+26G>A) c.422+26G>A (n.422+26G>A) n.806+26G>A | gnomAD v4 |
X | g.18584380A>G | CA2693221675 | CDKL5 | c.554+27A>G (n.554+27A>G) c.422+27A>G (n.422+27A>G) n.806+27A>G | gnomAD v4 |
X | g.18584381C>A | CA2693221677 | CDKL5 | c.554+28C>A (n.554+28C>A) c.422+28C>A (n.422+28C>A) n.806+28C>A | gnomAD v4 |
X | g.18584381C>T | CA2693221676 | CDKL5 | c.554+28C>T (n.554+28C>T) c.422+28C>T (n.422+28C>T) n.806+28C>T | gnomAD v4 |
X | g.18584382A>G | CA2693221678 | CDKL5 | c.554+29A>G (n.554+29A>G) c.422+29A>G (n.422+29A>G) n.806+29A>G | gnomAD v4 |
X | g.18584384T>C | CA2693221679 | CDKL5 | c.554+31T>C (n.554+31T>C) c.422+31T>C (n.422+31T>C) n.806+31T>C | gnomAD v4 |
X | g.18584386C>A | CA2693221681 | CDKL5 | c.554+33C>A (n.554+33C>A) c.422+33C>A (n.422+33C>A) n.806+33C>A | gnomAD v4 |
X | g.18584387_18584389del | CA2693221680 | CDKL5 | c.554+34_554+36del (n.554+34_554+36del) c.422+34_422+36del (n.422+34_422+36del) n.806+34_806+36del | gnomAD v4 |
X | g.18584387C>A | CA2579562832 | CDKL5 | c.554+34C>A (n.554+34C>A) c.422+34C>A (n.422+34C>A) n.806+34C>A | gnomAD v4 |
X | g.18584387C>T | CA2693221682 | CDKL5 | c.554+34C>T (n.554+34C>T) c.422+34C>T (n.422+34C>T) n.806+34C>T | gnomAD v4 |
X | g.18584388A= | CA2417968052 | CDKL5 | c.554+35A= (n.554+35A=) c.422+35A= (n.422+35A=) n.806+35A= | |
X | g.18584388A>G | CA640510069 | CDKL5 | c.554+35A>G (n.554+35A>G) c.422+35A>G (n.422+35A>G) n.806+35A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584389C>A | CA2693221683 | CDKL5 | c.554+36C>A (n.554+36C>A) c.422+36C>A (n.422+36C>A) n.806+36C>A | gnomAD v4 |
X | g.18584389C>T | CA2579562833 | CDKL5 | c.554+36C>T (n.554+36C>T) c.422+36C>T (n.422+36C>T) n.806+36C>T | gnomAD v4 |
X | g.18584390A= | CA2417968053 | CDKL5 | c.554+37A= (n.554+37A=) c.422+37A= (n.422+37A=) n.806+37A= | |
X | g.18584390A>C | CA10360279 | CDKL5 | c.554+37A>C (n.554+37A>C) c.422+37A>C (n.422+37A>C) n.806+37A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18584390A>G | CA2579562834 | CDKL5 | c.554+37A>G (n.554+37A>G) c.422+37A>G (n.422+37A>G) n.806+37A>G | gnomAD v4 |
X | g.18584394G>A | CA2579562835 | CDKL5 | c.554+41G>A (n.554+41G>A) c.422+41G>A (n.422+41G>A) n.806+41G>A | gnomAD v4 |