Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18613087_18613147delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT | CA2417977273 | CDKL5 | c.2153-65_2153-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT (n.2153-65_2153-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT) c.2102-65_2102-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT (n.2102-65_2102-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT) c.2021-65_2021-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT (n.2021-65_2021-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT) n.2405-65_2405-5delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTAT | |
X | g.18613088_18613147delinsG | CA1139667249 | CDKL5 | c.2153-64_2153-5delinsG (n.2153-64_2153-5delinsG) c.2102-64_2102-5delinsG (n.2102-64_2102-5delinsG) c.2021-64_2021-5delinsG (n.2021-64_2021-5delinsG) n.2405-64_2405-5delinsG | ClinVar dbSNP |
X | g.18613093_18613109delinsTAAAAAAAAAAAAAAAA | CA2417977280 | CDKL5 | c.2153-59_2153-43delinsTAAAAAAAAAAAAAAAA (n.2153-59_2153-43delinsTAAAAAAAAAAAAAAAA) c.2102-59_2102-43delinsTAAAAAAAAAAAAAAAA (n.2102-59_2102-43delinsTAAAAAAAAAAAAAAAA) c.2021-59_2021-43delinsTAAAAAAAAAAAAAAAA (n.2021-59_2021-43delinsTAAAAAAAAAAAAAAAA) n.2405-59_2405-43delinsTAAAAAAAAAAAAAAAA | |
X | g.18613108_18613109insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2693223088 | CDKL5 | c.2153-44_2153-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.2153-44_2153-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.2102-44_2102-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.2102-44_2102-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.2021-44_2021-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.2021-44_2021-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.2405-44_2405-43insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
X | g.18613114dup | CA326989668 | CDKL5 | c.2153-38dup (n.2153-38dup) c.2102-38dup (n.2102-38dup) c.2021-38dup (n.2021-38dup) n.2405-38dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613113_18613114dup | CA640513670 | CDKL5 | c.2153-39_2153-38dup (n.2153-39_2153-38dup) c.2102-39_2102-38dup (n.2102-39_2102-38dup) c.2021-39_2021-38dup (n.2021-39_2021-38dup) n.2405-39_2405-38dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613112_18613114dup | CA1131408889 | CDKL5 | c.2153-40_2153-38dup (n.2153-40_2153-38dup) c.2102-40_2102-38dup (n.2102-40_2102-38dup) c.2021-40_2021-38dup (n.2021-40_2021-38dup) n.2405-40_2405-38dup | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613111_18613114dup | CA1131408885 | CDKL5 | c.2153-41_2153-38dup (n.2153-41_2153-38dup) c.2102-41_2102-38dup (n.2102-41_2102-38dup) c.2021-41_2021-38dup (n.2021-41_2021-38dup) n.2405-41_2405-38dup | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613110_18613114dup | CA640513667 | CDKL5 | c.2153-42_2153-38dup (n.2153-42_2153-38dup) c.2102-42_2102-38dup (n.2102-42_2102-38dup) c.2021-42_2021-38dup (n.2021-42_2021-38dup) n.2405-42_2405-38dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613109_18613114dup | CA640513665 | CDKL5 | c.2153-43_2153-38dup (n.2153-43_2153-38dup) c.2102-43_2102-38dup (n.2102-43_2102-38dup) c.2021-43_2021-38dup (n.2021-43_2021-38dup) n.2405-43_2405-38dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613108_18613114dup | CA1131408882 | CDKL5 | c.2153-44_2153-38dup (n.2153-44_2153-38dup) c.2102-44_2102-38dup (n.2102-44_2102-38dup) c.2021-44_2021-38dup (n.2021-44_2021-38dup) n.2405-44_2405-38dup | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613107_18613114dup | CA1131408880 | CDKL5 | c.2153-45_2153-38dup (n.2153-45_2153-38dup) c.2102-45_2102-38dup (n.2102-45_2102-38dup) c.2021-45_2021-38dup (n.2021-45_2021-38dup) n.2405-45_2405-38dup | gnomAD v3 gnomAD v4 |
X | g.18613106_18613114dup | CA2693223084 | CDKL5 | c.2153-46_2153-38dup (n.2153-46_2153-38dup) c.2102-46_2102-38dup (n.2102-46_2102-38dup) c.2021-46_2021-38dup (n.2021-46_2021-38dup) n.2405-46_2405-38dup | gnomAD v4 |
X | g.18613105_18613114dup | CA2693223085 | CDKL5 | c.2153-47_2153-38dup (n.2153-47_2153-38dup) c.2102-47_2102-38dup (n.2102-47_2102-38dup) c.2021-47_2021-38dup (n.2021-47_2021-38dup) n.2405-47_2405-38dup | gnomAD v4 |
X | g.18613104_18613114dup | CA2693223086 | CDKL5 | c.2153-48_2153-38dup (n.2153-48_2153-38dup) c.2102-48_2102-38dup (n.2102-48_2102-38dup) c.2021-48_2021-38dup (n.2021-48_2021-38dup) n.2405-48_2405-38dup | gnomAD v4 |
X | g.18613102_18613114dup | CA1131408879 | CDKL5 | c.2153-50_2153-38dup (n.2153-50_2153-38dup) c.2102-50_2102-38dup (n.2102-50_2102-38dup) c.2021-50_2021-38dup (n.2021-50_2021-38dup) n.2405-50_2405-38dup | gnomAD v3 gnomAD v4 |
X | g.18613101_18613114dup | CA2693223087 | CDKL5 | c.2153-51_2153-38dup (n.2153-51_2153-38dup) c.2102-51_2102-38dup (n.2102-51_2102-38dup) c.2021-51_2021-38dup (n.2021-51_2021-38dup) n.2405-51_2405-38dup | gnomAD v4 |
X | g.18613095_18613114dup | CA1131408878 | CDKL5 | c.2153-57_2153-38dup (n.2153-57_2153-38dup) c.2102-57_2102-38dup (n.2102-57_2102-38dup) c.2021-57_2021-38dup (n.2021-57_2021-38dup) n.2405-57_2405-38dup | gnomAD v3 gnomAD v4 |
X | g.18613094_18613114dup | CA1131408874 | CDKL5 | c.2153-58_2153-38dup (n.2153-58_2153-38dup) c.2102-58_2102-38dup (n.2102-58_2102-38dup) c.2021-58_2021-38dup (n.2021-58_2021-38dup) n.2405-58_2405-38dup | gnomAD v3 gnomAD v4 |
X | g.18613114del | CA640513672 | CDKL5 | c.2153-38del (n.2153-38del) c.2102-38del (n.2102-38del) c.2021-38del (n.2021-38del) n.2405-38del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613113_18613114del | CA1131408853 | CDKL5 | c.2153-39_2153-38del (n.2153-39_2153-38del) c.2102-39_2102-38del (n.2102-39_2102-38del) c.2021-39_2021-38del (n.2021-39_2021-38del) n.2405-39_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613112_18613114del | CA1131408847 | CDKL5 | c.2153-40_2153-38del (n.2153-40_2153-38del) c.2102-40_2102-38del (n.2102-40_2102-38del) c.2021-40_2021-38del (n.2021-40_2021-38del) n.2405-40_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613111_18613114del | CA873671283 | CDKL5 | c.2153-41_2153-38del (n.2153-41_2153-38del) c.2102-41_2102-38del (n.2102-41_2102-38del) c.2021-41_2021-38del (n.2021-41_2021-38del) n.2405-41_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613110_18613114del | CA873671269 | CDKL5 | c.2153-42_2153-38del (n.2153-42_2153-38del) c.2102-42_2102-38del (n.2102-42_2102-38del) c.2021-42_2021-38del (n.2021-42_2021-38del) n.2405-42_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613109_18613114del | CA657739561 | CDKL5 | c.2153-43_2153-38del (n.2153-43_2153-38del) c.2102-43_2102-38del (n.2102-43_2102-38del) c.2021-43_2021-38del (n.2021-43_2021-38del) n.2405-43_2405-38del | gnomAD v4 COSMIC |
X | g.18613108_18613114del | CA873671266 | CDKL5 | c.2153-44_2153-38del (n.2153-44_2153-38del) c.2102-44_2102-38del (n.2102-44_2102-38del) c.2021-44_2021-38del (n.2021-44_2021-38del) n.2405-44_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613107_18613114del | CA2693223081 | CDKL5 | c.2153-45_2153-38del (n.2153-45_2153-38del) c.2102-45_2102-38del (n.2102-45_2102-38del) c.2021-45_2021-38del (n.2021-45_2021-38del) n.2405-45_2405-38del | gnomAD v4 |
X | g.18613106_18613114del | CA2525609748 | CDKL5 | c.2153-46_2153-38del (n.2153-46_2153-38del) c.2102-46_2102-38del (n.2102-46_2102-38del) c.2021-46_2021-38del (n.2021-46_2021-38del) n.2405-46_2405-38del | gnomAD v4 |
X | g.18613105_18613114del | CA326989673 | CDKL5 | c.2153-47_2153-38del (n.2153-47_2153-38del) c.2102-47_2102-38del (n.2102-47_2102-38del) c.2021-47_2021-38del (n.2021-47_2021-38del) n.2405-47_2405-38del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613104_18613114del | CA326989670 | CDKL5 | c.2153-48_2153-38del (n.2153-48_2153-38del) c.2102-48_2102-38del (n.2102-48_2102-38del) c.2021-48_2021-38del (n.2021-48_2021-38del) n.2405-48_2405-38del | dbSNP gnomAD v4 |
X | g.18613103_18613114del | CA873671245 | CDKL5 | c.2153-49_2153-38del (n.2153-49_2153-38del) c.2102-49_2102-38del (n.2102-49_2102-38del) c.2021-49_2021-38del (n.2021-49_2021-38del) n.2405-49_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613102_18613114del | CA2693223082 | CDKL5 | c.2153-50_2153-38del (n.2153-50_2153-38del) c.2102-50_2102-38del (n.2102-50_2102-38del) c.2021-50_2021-38del (n.2021-50_2021-38del) n.2405-50_2405-38del | gnomAD v4 |
X | g.18613101_18613114del | CA2819901221 | CDKL5 | c.2153-51_2153-38del (n.2153-51_2153-38del) c.2102-51_2102-38del (n.2102-51_2102-38del) c.2021-51_2021-38del (n.2021-51_2021-38del) n.2405-51_2405-38del | |
X | g.18613100_18613114del | CA1131408860 | CDKL5 | c.2153-52_2153-38del (n.2153-52_2153-38del) c.2102-52_2102-38del (n.2102-52_2102-38del) c.2021-52_2021-38del (n.2021-52_2021-38del) n.2405-52_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613099_18613114del | CA873671244 | CDKL5 | c.2153-53_2153-38del (n.2153-53_2153-38del) c.2102-53_2102-38del (n.2102-53_2102-38del) c.2021-53_2021-38del (n.2021-53_2021-38del) n.2405-53_2405-38del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613102A>C | CA2741734601 | CDKL5 | c.2153-50A>C (n.2153-50A>C) c.2102-50A>C (n.2102-50A>C) c.2021-50A>C (n.2021-50A>C) n.2405-50A>C | |
X | g.18613102A>G | CA2567299220 | CDKL5 | c.2153-50A>G (n.2153-50A>G) c.2102-50A>G (n.2102-50A>G) c.2021-50A>G (n.2021-50A>G) n.2405-50A>G | |
X | g.18613102_18613103insG | CA2819901255 | CDKL5 | c.2153-50_2153-49insG (n.2153-50_2153-49insG) c.2102-50_2102-49insG (n.2102-50_2102-49insG) c.2021-50_2021-49insG (n.2021-50_2021-49insG) n.2405-50_2405-49insG | |
X | g.18613103A= | CA2417977287 | CDKL5 | c.2153-49A= (n.2153-49A=) c.2102-49A= (n.2102-49A=) c.2021-49A= (n.2021-49A=) n.2405-49A= | |
X | g.18613103A>G | CA2417977288 | CDKL5 | c.2153-49A>G (n.2153-49A>G) c.2102-49A>G (n.2102-49A>G) c.2021-49A>G (n.2021-49A>G) n.2405-49A>G | dbSNP |
X | g.18613103A>T | CA1131408896 | CDKL5 | c.2153-49A>T (n.2153-49A>T) c.2102-49A>T (n.2102-49A>T) c.2021-49A>T (n.2021-49A>T) n.2405-49A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613104A>G | CA2693223092 | CDKL5 | c.2153-48A>G (n.2153-48A>G) c.2102-48A>G (n.2102-48A>G) c.2021-48A>G (n.2021-48A>G) n.2405-48A>G | gnomAD v4 |
X | g.18613105A= | CA2417977289 | CDKL5 | c.2153-47A= (n.2153-47A=) c.2102-47A= (n.2102-47A=) c.2021-47A= (n.2021-47A=) n.2405-47A= | |
X | g.18613105A>G | CA640513676 | CDKL5 | c.2153-47A>G (n.2153-47A>G) c.2102-47A>G (n.2102-47A>G) c.2021-47A>G (n.2021-47A>G) n.2405-47A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613106A>G | CA2693223093 | CDKL5 | c.2153-46A>G (n.2153-46A>G) c.2102-46A>G (n.2102-46A>G) c.2021-46A>G (n.2021-46A>G) n.2405-46A>G | gnomAD v4 |
X | g.18613106A>T | CA2693223094 | CDKL5 | c.2153-46A>T (n.2153-46A>T) c.2102-46A>T (n.2102-46A>T) c.2021-46A>T (n.2021-46A>T) n.2405-46A>T | gnomAD v4 |
X | g.18613107A= | CA2417977290 | CDKL5 | c.2153-45A= (n.2153-45A=) c.2102-45A= (n.2102-45A=) c.2021-45A= (n.2021-45A=) n.2405-45A= | |
X | g.18613107A>G | CA10360477 | CDKL5 | c.2153-45A>G (n.2153-45A>G) c.2102-45A>G (n.2102-45A>G) c.2021-45A>G (n.2021-45A>G) n.2405-45A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18613108A= | CA2417977291 | CDKL5 | c.2153-44A= (n.2153-44A=) c.2102-44A= (n.2102-44A=) c.2021-44A= (n.2021-44A=) n.2405-44A= | |
X | g.18613108A>G | CA10360478 | CDKL5 | c.2153-44A>G (n.2153-44A>G) c.2102-44A>G (n.2102-44A>G) c.2021-44A>G (n.2021-44A>G) n.2405-44A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613108_18613109insG | CA2693223095 | CDKL5 | c.2153-44_2153-43insG (n.2153-44_2153-43insG) c.2102-44_2102-43insG (n.2102-44_2102-43insG) c.2021-44_2021-43insG (n.2021-44_2021-43insG) n.2405-44_2405-43insG | gnomAD v4 |
X | g.18613109A= | CA2417977292 | CDKL5 | c.2153-43A= (n.2153-43A=) c.2102-43A= (n.2102-43A=) c.2021-43A= (n.2021-43A=) n.2405-43A= | |
X | g.18613109A>G | CA10360479 | CDKL5 | c.2153-43A>G (n.2153-43A>G) c.2102-43A>G (n.2102-43A>G) c.2021-43A>G (n.2021-43A>G) n.2405-43A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613109_18613110insG | CA2693223097 | CDKL5 | c.2153-43_2153-42insG (n.2153-43_2153-42insG) c.2102-43_2102-42insG (n.2102-43_2102-42insG) c.2021-43_2021-42insG (n.2021-43_2021-42insG) n.2405-43_2405-42insG | gnomAD v4 |
X | g.18613110A= | CA2417977293 | CDKL5 | c.2153-42A= (n.2153-42A=) c.2102-42A= (n.2102-42A=) c.2021-42A= (n.2021-42A=) n.2405-42A= | |
X | g.18613110A>G | CA10360481 | CDKL5 | c.2153-42A>G (n.2153-42A>G) c.2102-42A>G (n.2102-42A>G) c.2021-42A>G (n.2021-42A>G) n.2405-42A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613110A>T | CA2693223099 | CDKL5 | c.2153-42A>T (n.2153-42A>T) c.2102-42A>T (n.2102-42A>T) c.2021-42A>T (n.2021-42A>T) n.2405-42A>T | gnomAD v4 |
X | g.18613113_18613114insGAAAA | CA2693223096 | CDKL5 | c.2153-39_2153-38insGAAAA (n.2153-39_2153-38insGAAAA) c.2102-39_2102-38insGAAAA (n.2102-39_2102-38insGAAAA) c.2021-39_2021-38insGAAAA (n.2021-39_2021-38insGAAAA) n.2405-39_2405-38insGAAAA | gnomAD v4 |
X | g.18613110_18613115delinsAAAAAG | CA2417977294 | CDKL5 | c.2153-42_2153-37delinsAAAAAG (n.2153-42_2153-37delinsAAAAAG) c.2102-42_2102-37delinsAAAAAG (n.2102-42_2102-37delinsAAAAAG) c.2021-42_2021-37delinsAAAAAG (n.2021-42_2021-37delinsAAAAAG) n.2405-42_2405-37delinsAAAAAG | |
X | g.18613114_18613119dup | CA10360480 | CDKL5 | c.2153-38_2153-33dup (n.2153-38_2153-33dup) c.2102-38_2102-33dup (n.2102-38_2102-33dup) c.2021-38_2021-33dup (n.2021-38_2021-33dup) n.2405-38_2405-33dup | dbSNP ExAC gnomAD v4 |
X | g.18613114_18613119del | CA2693223098 | CDKL5 | c.2153-38_2153-33del (n.2153-38_2153-33del) c.2102-38_2102-33del (n.2102-38_2102-33del) c.2021-38_2021-33del (n.2021-38_2021-33del) n.2405-38_2405-33del | gnomAD v4 |
X | g.18613110_18613111insG | CA10360483 | CDKL5 | c.2153-42_2153-41insG (n.2153-42_2153-41insG) c.2102-42_2102-41insG (n.2102-42_2102-41insG) c.2021-42_2021-41insG (n.2021-42_2021-41insG) n.2405-42_2405-41insG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613110_18613111insT | CA2693223100 | CDKL5 | c.2153-42_2153-41insT (n.2153-42_2153-41insT) c.2102-42_2102-41insT (n.2102-42_2102-41insT) c.2021-42_2021-41insT (n.2021-42_2021-41insT) n.2405-42_2405-41insT | gnomAD v4 |
X | g.18613111A= | CA2417977295 | CDKL5 | c.2153-41A= (n.2153-41A=) c.2102-41A= (n.2102-41A=) c.2021-41A= (n.2021-41A=) n.2405-41A= | |
X | g.18613111A>G | CA10360484 | CDKL5 | c.2153-41A>G (n.2153-41A>G) c.2102-41A>G (n.2102-41A>G) c.2021-41A>G (n.2021-41A>G) n.2405-41A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613111A>T | CA2693223101 | CDKL5 | c.2153-41A>T (n.2153-41A>T) c.2102-41A>T (n.2102-41A>T) c.2021-41A>T (n.2021-41A>T) n.2405-41A>T | gnomAD v4 |
X | g.18613111_18613112insGA | CA2579562998 | CDKL5 | c.2153-41_2153-40insGA (n.2153-41_2153-40insGA) c.2102-41_2102-40insGA (n.2102-41_2102-40insGA) c.2021-41_2021-40insGA (n.2021-41_2021-40insGA) n.2405-41_2405-40insGA | gnomAD v4 |
X | g.18613111_18613115delinsAAAAG | CA2417977296 | CDKL5 | c.2153-41_2153-37delinsAAAAG (n.2153-41_2153-37delinsAAAAG) c.2102-41_2102-37delinsAAAAG (n.2102-41_2102-37delinsAAAAG) c.2021-41_2021-37delinsAAAAG (n.2021-41_2021-37delinsAAAAG) n.2405-41_2405-37delinsAAAAG | |
X | g.18613116_18613120dup | CA10360482 | CDKL5 | c.2153-36_2153-32dup (n.2153-36_2153-32dup) c.2102-36_2102-32dup (n.2102-36_2102-32dup) c.2021-36_2021-32dup (n.2021-36_2021-32dup) n.2405-36_2405-32dup | dbSNP ExAC |
X | g.18613116_18613120del | CA873671295 | CDKL5 | c.2153-36_2153-32del (n.2153-36_2153-32del) c.2102-36_2102-32del (n.2102-36_2102-32del) c.2021-36_2021-32del (n.2021-36_2021-32del) n.2405-36_2405-32del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613111_18613112insT | CA2738434651 | CDKL5 | c.2153-41_2153-40insT (n.2153-41_2153-40insT) c.2102-41_2102-40insT (n.2102-41_2102-40insT) c.2021-41_2021-40insT (n.2021-41_2021-40insT) n.2405-41_2405-40insT | dbSNP |
X | g.18613112A>G | CA2693223102 | CDKL5 | c.2153-40A>G (n.2153-40A>G) c.2102-40A>G (n.2102-40A>G) c.2021-40A>G (n.2021-40A>G) n.2405-40A>G | gnomAD v4 |
X | g.18613112A>T | CA2819901277 | CDKL5 | c.2153-40A>T (n.2153-40A>T) c.2102-40A>T (n.2102-40A>T) c.2021-40A>T (n.2021-40A>T) n.2405-40A>T | |
X | g.18613112_18613115delinsAAAG | CA2417977297 | CDKL5 | c.2153-40_2153-37delinsAAAG (n.2153-40_2153-37delinsAAAG) c.2102-40_2102-37delinsAAAG (n.2102-40_2102-37delinsAAAG) c.2021-40_2021-37delinsAAAG (n.2021-40_2021-37delinsAAAG) n.2405-40_2405-37delinsAAAG | |
X | g.18613115_18613118dup | CA10360485 | CDKL5 | c.2153-37_2153-34dup (n.2153-37_2153-34dup) c.2102-37_2102-34dup (n.2102-37_2102-34dup) c.2021-37_2021-34dup (n.2021-37_2021-34dup) n.2405-37_2405-34dup | dbSNP ExAC |
X | g.18613115_18613118del | CA640513681 | CDKL5 | c.2153-37_2153-34del (n.2153-37_2153-34del) c.2102-37_2102-34del (n.2102-37_2102-34del) c.2021-37_2021-34del (n.2021-37_2021-34del) n.2405-37_2405-34del | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613113A= | CA2417977299 | CDKL5 | c.2153-39A= (n.2153-39A=) c.2102-39A= (n.2102-39A=) c.2021-39A= (n.2021-39A=) n.2405-39A= | |
X | g.18613113A>C | CA2417977300 | CDKL5 | c.2153-39A>C (n.2153-39A>C) c.2102-39A>C (n.2102-39A>C) c.2021-39A>C (n.2021-39A>C) n.2405-39A>C | dbSNP |
X | g.18613113A>G | CA2693223104 | CDKL5 | c.2153-39A>G (n.2153-39A>G) c.2102-39A>G (n.2102-39A>G) c.2021-39A>G (n.2021-39A>G) n.2405-39A>G | gnomAD v4 |
X | g.18613113A>T | CA2693223103 | CDKL5 | c.2153-39A>T (n.2153-39A>T) c.2102-39A>T (n.2102-39A>T) c.2021-39A>T (n.2021-39A>T) n.2405-39A>T | gnomAD v4 |
X | g.18613113_18613114insGA | CA2819901286 | CDKL5 | c.2153-39_2153-38insGA (n.2153-39_2153-38insGA) c.2102-39_2102-38insGA (n.2102-39_2102-38insGA) c.2021-39_2021-38insGA (n.2021-39_2021-38insGA) n.2405-39_2405-38insGA | |
X | g.18613114_18613115insAAAAAAAACAA | CA2819901285 | CDKL5 | c.2153-38_2153-37insAAAAAAAACAA (n.2153-38_2153-37insAAAAAAAACAA) c.2102-38_2102-37insAAAAAAAACAA (n.2102-38_2102-37insAAAAAAAACAA) c.2021-38_2021-37insAAAAAAAACAA (n.2021-38_2021-37insAAAAAAAACAA) n.2405-38_2405-37insAAAAAAAACAA | |
X | g.18613113_18613115delinsAAG | CA2417977298 | CDKL5 | c.2153-39_2153-37delinsAAG (n.2153-39_2153-37delinsAAG) c.2102-39_2102-37delinsAAG (n.2102-39_2102-37delinsAAG) c.2021-39_2021-37delinsAAG (n.2021-39_2021-37delinsAAG) n.2405-39_2405-37delinsAAG | |
X | g.18613115_18613117del | CA10360486 | CDKL5 | c.2153-37_2153-35del (n.2153-37_2153-35del) c.2102-37_2102-35del (n.2102-37_2102-35del) c.2021-37_2021-35del (n.2021-37_2021-35del) n.2405-37_2405-35del | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18613113_18613114insC | CA2579562999 | CDKL5 | c.2153-39_2153-38insC (n.2153-39_2153-38insC) c.2102-39_2102-38insC (n.2102-39_2102-38insC) c.2021-39_2021-38insC (n.2021-39_2021-38insC) n.2405-39_2405-38insC | |
X | g.18613114A= | CA2417977302 | CDKL5 | c.2153-38A= (n.2153-38A=) c.2102-38A= (n.2102-38A=) c.2021-38A= (n.2021-38A=) n.2405-38A= | |
X | g.18613114A>C | CA640513684 | CDKL5 | c.2153-38A>C (n.2153-38A>C) c.2102-38A>C (n.2102-38A>C) c.2021-38A>C (n.2021-38A>C) n.2405-38A>C | dbSNP gnomAD v2 |
X | g.18613114A>G | CA2579563000 | CDKL5 | c.2153-38A>G (n.2153-38A>G) c.2102-38A>G (n.2102-38A>G) c.2021-38A>G (n.2021-38A>G) n.2405-38A>G | gnomAD v4 |
X | g.18613114A>T | CA2693223105 | CDKL5 | c.2153-38A>T (n.2153-38A>T) c.2102-38A>T (n.2102-38A>T) c.2021-38A>T (n.2021-38A>T) n.2405-38A>T | gnomAD v4 |
X | g.18613114_18613115delinsAG | CA2417977301 | CDKL5 | c.2153-38_2153-37delinsAG (n.2153-38_2153-37delinsAG) c.2102-38_2102-37delinsAG (n.2102-38_2102-37delinsAG) c.2021-38_2021-37delinsAG (n.2021-38_2021-37delinsAG) n.2405-38_2405-37delinsAG | |
X | g.18613115_18613116del | CA10360487 | CDKL5 | c.2153-37_2153-36del (n.2153-37_2153-36del) c.2102-37_2102-36del (n.2102-37_2102-36del) c.2021-37_2021-36del (n.2021-37_2021-36del) n.2405-37_2405-36del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613114_18613115insT | CA2693223106 | CDKL5 | c.2153-38_2153-37insT (n.2153-38_2153-37insT) c.2102-38_2102-37insT (n.2102-38_2102-37insT) c.2021-38_2021-37insT (n.2021-38_2021-37insT) n.2405-38_2405-37insT | gnomAD v4 |
X | g.18613114_18613115insAT | CA2693223107 | CDKL5 | c.2153-38_2153-37insAT (n.2153-38_2153-37insAT) c.2102-38_2102-37insAT (n.2102-38_2102-37insAT) c.2021-38_2021-37insAT (n.2021-38_2021-37insAT) n.2405-38_2405-37insAT | gnomAD v4 |
X | g.18613115del | CA10360488 | CDKL5 | c.2153-37del (n.2153-37del) c.2102-37del (n.2102-37del) c.2021-37del (n.2021-37del) n.2405-37del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18613115G>A | CA10360489 | CDKL5 | c.2153-37G>A (n.2153-37G>A) c.2102-37G>A (n.2102-37G>A) c.2021-37G>A (n.2021-37G>A) n.2405-37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.18613115G>C | CA1131408912 | CDKL5 | c.2153-37G>C (n.2153-37G>C) c.2102-37G>C (n.2102-37G>C) c.2021-37G>C (n.2021-37G>C) n.2405-37G>C | gnomAD v3 gnomAD v4 |
X | g.18613115G= | CA2417977303 | CDKL5 | c.2153-37G= (n.2153-37G=) c.2102-37G= (n.2102-37G=) c.2021-37G= (n.2021-37G=) n.2405-37G= | |
X | g.18613115G>T | CA1131408915 | CDKL5 | c.2153-37G>T (n.2153-37G>T) c.2102-37G>T (n.2102-37G>T) c.2021-37G>T (n.2021-37G>T) n.2405-37G>T | gnomAD v3 gnomAD v4 |
X | g.18613116A= | CA2417977304 | CDKL5 | c.2153-36A= (n.2153-36A=) c.2102-36A= (n.2102-36A=) c.2021-36A= (n.2021-36A=) n.2405-36A= | |
X | g.18613116A>G | CA10360490 | CDKL5 | c.2153-36A>G (n.2153-36A>G) c.2102-36A>G (n.2102-36A>G) c.2021-36A>G (n.2021-36A>G) n.2405-36A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18613116A>T | CA2693223109 | CDKL5 | c.2153-36A>T (n.2153-36A>T) c.2102-36A>T (n.2102-36A>T) c.2021-36A>T (n.2021-36A>T) n.2405-36A>T | gnomAD v4 |
X | g.18613118_18613119dup | CA873671306 | CDKL5 | c.2153-34_2153-33dup (n.2153-34_2153-33dup) c.2102-34_2102-33dup (n.2102-34_2102-33dup) c.2021-34_2021-33dup (n.2021-34_2021-33dup) n.2405-34_2405-33dup | dbSNP |
X | g.18613119del | CA2693223108 | CDKL5 | c.2153-33del (n.2153-33del) c.2102-33del (n.2102-33del) c.2021-33del (n.2021-33del) n.2405-33del | gnomAD v4 |
X | g.18613116_18613117insT | CA2693223110 | CDKL5 | c.2153-36_2153-35insT (n.2153-36_2153-35insT) c.2102-36_2102-35insT (n.2102-36_2102-35insT) c.2021-36_2021-35insT (n.2021-36_2021-35insT) n.2405-36_2405-35insT | gnomAD v4 |
X | g.18613117A= | CA2417977305 | CDKL5 | c.2153-35A= (n.2153-35A=) c.2102-35A= (n.2102-35A=) c.2021-35A= (n.2021-35A=) n.2405-35A= | |
X | g.18613117A>G | CA640513688 | CDKL5 | c.2153-35A>G (n.2153-35A>G) c.2102-35A>G (n.2102-35A>G) c.2021-35A>G (n.2021-35A>G) n.2405-35A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613117A>T | CA2693223111 | CDKL5 | c.2153-35A>T (n.2153-35A>T) c.2102-35A>T (n.2102-35A>T) c.2021-35A>T (n.2021-35A>T) n.2405-35A>T | gnomAD v4 |
X | g.18613118A= | CA2417977306 | CDKL5 | c.2153-34A= (n.2153-34A=) c.2102-34A= (n.2102-34A=) c.2021-34A= (n.2021-34A=) n.2405-34A= | |
X | g.18613118A>C | CA10360491 | CDKL5 | c.2153-34A>C (n.2153-34A>C) c.2102-34A>C (n.2102-34A>C) c.2021-34A>C (n.2021-34A>C) n.2405-34A>C | dbSNP ExAC |
X | g.18613118A>G | CA2693223112 | CDKL5 | c.2153-34A>G (n.2153-34A>G) c.2102-34A>G (n.2102-34A>G) c.2021-34A>G (n.2021-34A>G) n.2405-34A>G | gnomAD v4 |
X | g.18613119A>G | CA2531894380 | CDKL5 | c.2153-33A>G (n.2153-33A>G) c.2102-33A>G (n.2102-33A>G) c.2021-33A>G (n.2021-33A>G) n.2405-33A>G | gnomAD v4 |
X | g.18613119A>T | CA2693223115 | CDKL5 | c.2153-33A>T (n.2153-33A>T) c.2102-33A>T (n.2102-33A>T) c.2021-33A>T (n.2021-33A>T) n.2405-33A>T | gnomAD v4 |
X | g.18613119_18613120insAGA | CA640513689 | CDKL5 | c.2153-33_2153-32insAGA (n.2153-33_2153-32insAGA) c.2102-33_2102-32insAGA (n.2102-33_2102-32insAGA) c.2021-33_2021-32insAGA (n.2021-33_2021-32insAGA) n.2405-33_2405-32insAGA | dbSNP gnomAD v2 |
X | g.18613119_18613120insAAGA | CA2693223113 | CDKL5 | c.2153-33_2153-32insAAGA (n.2153-33_2153-32insAAGA) c.2102-33_2102-32insAAGA (n.2102-33_2102-32insAAGA) c.2021-33_2021-32insAAGA (n.2021-33_2021-32insAAGA) n.2405-33_2405-32insAAGA | gnomAD v4 |
X | g.18613119_18613120insAAAGA | CA920400320 | CDKL5 | c.2153-33_2153-32insAAAGA (n.2153-33_2153-32insAAAGA) c.2102-33_2102-32insAAAGA (n.2102-33_2102-32insAAAGA) c.2021-33_2021-32insAAAGA (n.2021-33_2021-32insAAAGA) n.2405-33_2405-32insAAAGA | dbSNP |
X | g.18613119_18613121delinsAGT | CA2417977307 | CDKL5 | c.2153-33_2153-31delinsAGT (n.2153-33_2153-31delinsAGT) c.2102-33_2102-31delinsAGT (n.2102-33_2102-31delinsAGT) c.2021-33_2021-31delinsAGT (n.2021-33_2021-31delinsAGT) n.2405-33_2405-31delinsAGT | |
X | g.18613119_18613122delinsAGTC | CA2417977308 | CDKL5 | c.2153-33_2153-30delinsAGTC (n.2153-33_2153-30delinsAGTC) c.2102-33_2102-30delinsAGTC (n.2102-33_2102-30delinsAGTC) c.2021-33_2021-30delinsAGTC (n.2021-33_2021-30delinsAGTC) n.2405-33_2405-30delinsAGTC | |
X | g.18613119_18613123delinsAGTCC | CA2417977309 | CDKL5 | c.2153-33_2153-29delinsAGTCC (n.2153-33_2153-29delinsAGTCC) c.2102-33_2102-29delinsAGTCC (n.2102-33_2102-29delinsAGTCC) c.2021-33_2021-29delinsAGTCC (n.2021-33_2021-29delinsAGTCC) n.2405-33_2405-29delinsAGTCC | |
X | g.18613122_18613129dup | CA2693223114 | CDKL5 | c.2153-30_2153-23dup (n.2153-30_2153-23dup) c.2102-30_2102-23dup (n.2102-30_2102-23dup) c.2021-30_2021-23dup (n.2021-30_2021-23dup) n.2405-30_2405-23dup | gnomAD v4 |
X | g.18613120del | CA2693223116 | CDKL5 | c.2153-32del (n.2153-32del) c.2102-32del (n.2102-32del) c.2021-32del (n.2021-32del) n.2405-32del | gnomAD v4 |
X | g.18613120G>A | CA10360495 | CDKL5 | c.2153-32G>A (n.2153-32G>A) c.2102-32G>A (n.2102-32G>A) c.2021-32G>A (n.2021-32G>A) n.2405-32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613120G>C | CA640513694 | CDKL5 | c.2153-32G>C (n.2153-32G>C) c.2102-32G>C (n.2102-32G>C) c.2021-32G>C (n.2021-32G>C) n.2405-32G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613120G= | CA2417977311 | CDKL5 | c.2153-32G= (n.2153-32G=) c.2102-32G= (n.2102-32G=) c.2021-32G= (n.2021-32G=) n.2405-32G= | |
X | g.18613120G>T | CA10360494 | CDKL5 | c.2153-32G>T (n.2153-32G>T) c.2102-32G>T (n.2102-32G>T) c.2021-32G>T (n.2021-32G>T) n.2405-32G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613120_18613121del | CA10360492 | CDKL5 | c.2153-32_2153-31del (n.2153-32_2153-31del) c.2102-32_2102-31del (n.2102-32_2102-31del) c.2021-32_2021-31del (n.2021-32_2021-31del) n.2405-32_2405-31del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613120_18613122del | CA10360493 | CDKL5 | c.2153-32_2153-30del (n.2153-32_2153-30del) c.2102-32_2102-30del (n.2102-32_2102-30del) c.2021-32_2021-30del (n.2021-32_2021-30del) n.2405-32_2405-30del | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18613120_18613123del | CA920400321 | CDKL5 | c.2153-32_2153-29del (n.2153-32_2153-29del) c.2102-32_2102-29del (n.2102-32_2102-29del) c.2021-32_2021-29del (n.2021-32_2021-29del) n.2405-32_2405-29del | dbSNP |
X | g.18613120_18613137delinsGTCCATCAGTGACTTACT | CA2417977310 | CDKL5 | c.2153-32_2153-15delinsGTCCATCAGTGACTTACT (n.2153-32_2153-15delinsGTCCATCAGTGACTTACT) c.2102-32_2102-15delinsGTCCATCAGTGACTTACT (n.2102-32_2102-15delinsGTCCATCAGTGACTTACT) c.2021-32_2021-15delinsGTCCATCAGTGACTTACT (n.2021-32_2021-15delinsGTCCATCAGTGACTTACT) n.2405-32_2405-15delinsGTCCATCAGTGACTTACT | |
X | g.18613121T>A | CA10360498 | CDKL5 | c.2153-31T>A (n.2153-31T>A) c.2102-31T>A (n.2102-31T>A) c.2021-31T>A (n.2021-31T>A) n.2405-31T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613121T>C | CA10360496 | CDKL5 | c.2153-31T>C (n.2153-31T>C) c.2102-31T>C (n.2102-31T>C) c.2021-31T>C (n.2021-31T>C) n.2405-31T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613121T>G | CA10360497 | CDKL5 | c.2153-31T>G (n.2153-31T>G) c.2102-31T>G (n.2102-31T>G) c.2021-31T>G (n.2021-31T>G) n.2405-31T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613121T= | CA2417977312 | CDKL5 | c.2153-31T= (n.2153-31T=) c.2102-31T= (n.2102-31T=) c.2021-31T= (n.2021-31T=) n.2405-31T= | |
X | g.18613121_18613137delinsCCAACAAATAAGCACAGCAA | CA326989700 | CDKL5 | c.2153-31_2153-15delinsCCAACAAATAAGCACAGCAA (n.2153-31_2153-15delinsCCAACAAATAAGCACAGCAA) c.2102-31_2102-15delinsCCAACAAATAAGCACAGCAA (n.2102-31_2102-15delinsCCAACAAATAAGCACAGCAA) c.2021-31_2021-15delinsCCAACAAATAAGCACAGCAA (n.2021-31_2021-15delinsCCAACAAATAAGCACAGCAA) n.2405-31_2405-15delinsCCAACAAATAAGCACAGCAA | dbSNP |
X | g.18613121_18613122insA | CA2693223117 | CDKL5 | c.2153-31_2153-30insA (n.2153-31_2153-30insA) c.2102-31_2102-30insA (n.2102-31_2102-30insA) c.2021-31_2021-30insA (n.2021-31_2021-30insA) n.2405-31_2405-30insA | gnomAD v4 |
X | g.18613121_18613122insAACC | CA640513698 | CDKL5 | c.2153-31_2153-30insAACC (n.2153-31_2153-30insAACC) c.2102-31_2102-30insAACC (n.2102-31_2102-30insAACC) c.2021-31_2021-30insAACC (n.2021-31_2021-30insAACC) n.2405-31_2405-30insAACC | gnomAD v2 |
X | g.18613122C>A | CA640513697 | CDKL5 | c.2153-30C>A (n.2153-30C>A) c.2102-30C>A (n.2102-30C>A) c.2021-30C>A (n.2021-30C>A) n.2405-30C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613122C= | CA2417977313 | CDKL5 | c.2153-30C= (n.2153-30C=) c.2102-30C= (n.2102-30C=) c.2021-30C= (n.2021-30C=) n.2405-30C= | |
X | g.18613122C>T | CA640513699 | CDKL5 | c.2153-30C>T (n.2153-30C>T) c.2102-30C>T (n.2102-30C>T) c.2021-30C>T (n.2021-30C>T) n.2405-30C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613123del | CA2560390632 | CDKL5 | c.2153-29del (n.2153-29del) c.2102-29del (n.2102-29del) c.2021-29del (n.2021-29del) n.2405-29del | |
X | g.18613123C>A | CA640513700 | CDKL5 | c.2153-29C>A (n.2153-29C>A) c.2102-29C>A (n.2102-29C>A) c.2021-29C>A (n.2021-29C>A) n.2405-29C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613123C= | CA2417977314 | CDKL5 | c.2153-29C= (n.2153-29C=) c.2102-29C= (n.2102-29C=) c.2021-29C= (n.2021-29C=) n.2405-29C= | |
X | g.18613123C>G | CA2579563001 | CDKL5 | c.2153-29C>G (n.2153-29C>G) c.2102-29C>G (n.2102-29C>G) c.2021-29C>G (n.2021-29C>G) n.2405-29C>G | |
X | g.18613123C>T | CA2693223118 | CDKL5 | c.2153-29C>T (n.2153-29C>T) c.2102-29C>T (n.2102-29C>T) c.2021-29C>T (n.2021-29C>T) n.2405-29C>T | gnomAD v4 |
X | g.18613124A= | CA2417977315 | CDKL5 | c.2153-28A= (n.2153-28A=) c.2102-28A= (n.2102-28A=) c.2021-28A= (n.2021-28A=) n.2405-28A= | |
X | g.18613124A>C | CA2693223119 | CDKL5 | c.2153-28A>C (n.2153-28A>C) c.2102-28A>C (n.2102-28A>C) c.2021-28A>C (n.2021-28A>C) n.2405-28A>C | gnomAD v4 |
X | g.18613124A>G | CA640513701 | CDKL5 | c.2153-28A>G (n.2153-28A>G) c.2102-28A>G (n.2102-28A>G) c.2021-28A>G (n.2021-28A>G) n.2405-28A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613125T>A | CA640513702 | CDKL5 | c.2153-27T>A (n.2153-27T>A) c.2102-27T>A (n.2102-27T>A) c.2021-27T>A (n.2021-27T>A) n.2405-27T>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613125T>C | CA2693223120 | CDKL5 | c.2153-27T>C (n.2153-27T>C) c.2102-27T>C (n.2102-27T>C) c.2021-27T>C (n.2021-27T>C) n.2405-27T>C | gnomAD v4 |
X | g.18613125T>G | CA2693223121 | CDKL5 | c.2153-27T>G (n.2153-27T>G) c.2102-27T>G (n.2102-27T>G) c.2021-27T>G (n.2021-27T>G) n.2405-27T>G | gnomAD v4 |
X | g.18613125T= | CA2417977316 | CDKL5 | c.2153-27T= (n.2153-27T=) c.2102-27T= (n.2102-27T=) c.2021-27T= (n.2021-27T=) n.2405-27T= | |
X | g.18613126del | CA2693223122 | CDKL5 | c.2153-26del (n.2153-26del) c.2102-26del (n.2102-26del) c.2021-26del (n.2021-26del) n.2405-26del | gnomAD v4 |
X | g.18613126C>A | CA2693223123 | CDKL5 | c.2153-26C>A (n.2153-26C>A) c.2102-26C>A (n.2102-26C>A) c.2021-26C>A (n.2021-26C>A) n.2405-26C>A | gnomAD v4 |
X | g.18613126C>G | CA2819901321 | CDKL5 | c.2153-26C>G (n.2153-26C>G) c.2102-26C>G (n.2102-26C>G) c.2021-26C>G (n.2021-26C>G) n.2405-26C>G | |
X | g.18613127A>C | CA2693223124 | CDKL5 | c.2153-25A>C (n.2153-25A>C) c.2102-25A>C (n.2102-25A>C) c.2021-25A>C (n.2021-25A>C) n.2405-25A>C | gnomAD v4 |
X | g.18613127A>G | CA2693223125 | CDKL5 | c.2153-25A>G (n.2153-25A>G) c.2102-25A>G (n.2102-25A>G) c.2021-25A>G (n.2021-25A>G) n.2405-25A>G | gnomAD v4 |
X | g.18613128G>A | CA10360499 | CDKL5 | c.2153-24G>A (n.2153-24G>A) c.2102-24G>A (n.2102-24G>A) c.2021-24G>A (n.2021-24G>A) n.2405-24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613128G= | CA2417977317 | CDKL5 | c.2153-24G= (n.2153-24G=) c.2102-24G= (n.2102-24G=) c.2021-24G= (n.2021-24G=) n.2405-24G= | |
X | g.18613128G>T | CA2693223126 | CDKL5 | c.2153-24G>T (n.2153-24G>T) c.2102-24G>T (n.2102-24G>T) c.2021-24G>T (n.2021-24G>T) n.2405-24G>T | gnomAD v4 |
X | g.18613129T>G | CA10360500 | CDKL5 | c.2153-23T>G (n.2153-23T>G) c.2102-23T>G (n.2102-23T>G) c.2021-23T>G (n.2021-23T>G) n.2405-23T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.18613129T= | CA2417977318 | CDKL5 | c.2153-23T= (n.2153-23T=) c.2102-23T= (n.2102-23T=) c.2021-23T= (n.2021-23T=) n.2405-23T= | |
X | g.18613130G>A | CA2693223127 | CDKL5 | c.2153-22G>A (n.2153-22G>A) c.2102-22G>A (n.2102-22G>A) c.2021-22G>A (n.2021-22G>A) n.2405-22G>A | gnomAD v4 |
X | g.18613130G>T | CA2693223128 | CDKL5 | c.2153-22G>T (n.2153-22G>T) c.2102-22G>T (n.2102-22G>T) c.2021-22G>T (n.2021-22G>T) n.2405-22G>T | gnomAD v4 |
X | g.18613131A= | CA2417977319 | CDKL5 | c.2153-21A= (n.2153-21A=) c.2102-21A= (n.2102-21A=) c.2021-21A= (n.2021-21A=) n.2405-21A= | |
X | g.18613131A>C | CA2693223129 | CDKL5 | c.2153-21A>C (n.2153-21A>C) c.2102-21A>C (n.2102-21A>C) c.2021-21A>C (n.2021-21A>C) n.2405-21A>C | gnomAD v4 |
X | g.18613131A>G | CA2693223130 | CDKL5 | c.2153-21A>G (n.2153-21A>G) c.2102-21A>G (n.2102-21A>G) c.2021-21A>G (n.2021-21A>G) n.2405-21A>G | gnomAD v4 |
X | g.18613131A>T | CA2417977320 | CDKL5 | c.2153-21A>T (n.2153-21A>T) c.2102-21A>T (n.2102-21A>T) c.2021-21A>T (n.2021-21A>T) n.2405-21A>T | dbSNP gnomAD v4 |
X | g.18613132C>A | CA2693223131 | CDKL5 | c.2153-20C>A (n.2153-20C>A) c.2102-20C>A (n.2102-20C>A) c.2021-20C>A (n.2021-20C>A) n.2405-20C>A | ClinVar gnomAD v4 |
X | g.18613132C= | CA2417977321 | CDKL5 | c.2153-20C= (n.2153-20C=) c.2102-20C= (n.2102-20C=) c.2021-20C= (n.2021-20C=) n.2405-20C= | |
X | g.18613132C>G | CA2693223132 | CDKL5 | c.2153-20C>G (n.2153-20C>G) c.2102-20C>G (n.2102-20C>G) c.2021-20C>G (n.2021-20C>G) n.2405-20C>G | gnomAD v4 |
X | g.18613132C>T | CA873671350 | CDKL5 | c.2153-20C>T (n.2153-20C>T) c.2102-20C>T (n.2102-20C>T) c.2021-20C>T (n.2021-20C>T) n.2405-20C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18613133T>A | CA2693223134 | CDKL5 | c.2153-19T>A (n.2153-19T>A) c.2102-19T>A (n.2102-19T>A) c.2021-19T>A (n.2021-19T>A) n.2405-19T>A | gnomAD v4 |
X | g.18613133T>C | CA2693223135 | CDKL5 | c.2153-19T>C (n.2153-19T>C) c.2102-19T>C (n.2102-19T>C) c.2021-19T>C (n.2021-19T>C) n.2405-19T>C | gnomAD v4 |
X | g.18613135_18613140dup | CA2693223133 | CDKL5 | c.2153-17_2153-12dup (n.2153-17_2153-12dup) c.2102-17_2102-12dup (n.2102-17_2102-12dup) c.2021-17_2021-12dup (n.2021-17_2021-12dup) n.2405-17_2405-12dup | gnomAD v4 |
X | g.18613134T>A | CA2693223136 | CDKL5 | c.2153-18T>A (n.2153-18T>A) c.2102-18T>A (n.2102-18T>A) c.2021-18T>A (n.2021-18T>A) n.2405-18T>A | gnomAD v4 |
X | g.18613134T>G | CA10360501 | CDKL5 | c.2153-18T>G (n.2153-18T>G) c.2102-18T>G (n.2102-18T>G) c.2021-18T>G (n.2021-18T>G) n.2405-18T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613134T= | CA2417977322 | CDKL5 | c.2153-18T= (n.2153-18T=) c.2102-18T= (n.2102-18T=) c.2021-18T= (n.2021-18T=) n.2405-18T= | |
X | g.18613135A= | CA2417977323 | CDKL5 | c.2153-17A= (n.2153-17A=) c.2102-17A= (n.2102-17A=) c.2021-17A= (n.2021-17A=) n.2405-17A= | |
X | g.18613135A>T | CA2693223137 | CDKL5 | c.2153-17A>T (n.2153-17A>T) c.2102-17A>T (n.2102-17A>T) c.2021-17A>T (n.2021-17A>T) n.2405-17A>T | gnomAD v4 |
X | g.18613135_18613136insTTTTT | CA10360502 | CDKL5 | c.2153-17_2153-16insTTTTT (n.2153-17_2153-16insTTTTT) c.2102-17_2102-16insTTTTT (n.2102-17_2102-16insTTTTT) c.2021-17_2021-16insTTTTT (n.2021-17_2021-16insTTTTT) n.2405-17_2405-16insTTTTT | dbSNP ExAC |
X | g.18613136del | CA2693223138 | CDKL5 | c.2153-16del (n.2153-16del) c.2102-16del (n.2102-16del) c.2021-16del (n.2021-16del) n.2405-16del | gnomAD v4 |
X | g.18613136C>A | CA2542083377 | CDKL5 | c.2153-16C>A (n.2153-16C>A) c.2102-16C>A (n.2102-16C>A) c.2021-16C>A (n.2021-16C>A) n.2405-16C>A | ClinVar gnomAD v4 |
X | g.18613136C= | CA2417977324 | CDKL5 | c.2153-16C= (n.2153-16C=) c.2102-16C= (n.2102-16C=) c.2021-16C= (n.2021-16C=) n.2405-16C= | |
X | g.18613136C>G | CA2693223139 | CDKL5 | c.2153-16C>G (n.2153-16C>G) c.2102-16C>G (n.2102-16C>G) c.2021-16C>G (n.2021-16C>G) n.2405-16C>G | gnomAD v4 |
X | g.18613136C>T | CA10360503 | CDKL5 | c.2153-16C>T (n.2153-16C>T) c.2102-16C>T (n.2102-16C>T) c.2021-16C>T (n.2021-16C>T) n.2405-16C>T | dbSNP ExAC gnomAD v4 |
X | g.18613137T>C | CA2693223141 | CDKL5 | c.2153-15T>C (n.2153-15T>C) c.2102-15T>C (n.2102-15T>C) c.2021-15T>C (n.2021-15T>C) n.2405-15T>C | gnomAD v4 |
X | g.18613138_18613141dup | CA2819901340 | CDKL5 | c.2153-14_2153-11dup (n.2153-14_2153-11dup) c.2102-14_2102-11dup (n.2102-14_2102-11dup) c.2021-14_2021-11dup (n.2021-14_2021-11dup) n.2405-14_2405-11dup | |
X | g.18613141del | CA2693223140 | CDKL5 | c.2153-11del (n.2153-11del) c.2102-11del (n.2102-11del) c.2021-11del (n.2021-11del) n.2405-11del | gnomAD v4 |
X | g.18613142C>A | CA2693223142 | CDKL5 | c.2153-10C>A (n.2153-10C>A) c.2102-10C>A (n.2102-10C>A) c.2021-10C>A (n.2021-10C>A) n.2405-10C>A | gnomAD v4 |
X | g.18613142C= | CA2417977325 | CDKL5 | c.2153-10C= (n.2153-10C=) c.2102-10C= (n.2102-10C=) c.2021-10C= (n.2021-10C=) n.2405-10C= | |
X | g.18613142C>G | CA2693223143 | CDKL5 | c.2153-10C>G (n.2153-10C>G) c.2102-10C>G (n.2102-10C>G) c.2021-10C>G (n.2021-10C>G) n.2405-10C>G | ClinVar gnomAD v4 |
X | g.18613142C>T | CA10360504 | CDKL5 | c.2153-10C>T (n.2153-10C>T) c.2102-10C>T (n.2102-10C>T) c.2021-10C>T (n.2021-10C>T) n.2405-10C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
X | g.18613143T>A | CA2693223144 | CDKL5 | c.2153-9T>A (n.2153-9T>A) c.2102-9T>A (n.2102-9T>A) c.2021-9T>A (n.2021-9T>A) n.2405-9T>A | gnomAD v4 |
X | g.18613143T>C | CA2693223145 | CDKL5 | c.2153-9T>C (n.2153-9T>C) c.2102-9T>C (n.2102-9T>C) c.2021-9T>C (n.2021-9T>C) n.2405-9T>C | gnomAD v4 |
X | g.18613145T>C | CA2693223146 | CDKL5 | c.2153-7T>C (n.2153-7T>C) c.2102-7T>C (n.2102-7T>C) c.2021-7T>C (n.2021-7T>C) n.2405-7T>C | gnomAD v4 |
X | g.18613146A= | CA2417977326 | CDKL5 | c.2153-6A= (n.2153-6A=) c.2102-6A= (n.2102-6A=) c.2021-6A= (n.2021-6A=) n.2405-6A= | |
X | g.18613146A>T | CA10360505 | CDKL5 | c.2153-6A>T (n.2153-6A>T) c.2102-6A>T (n.2102-6A>T) c.2021-6A>T (n.2021-6A>T) n.2405-6A>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.18613149C>A | CA2693223147 | CDKL5 | c.2153-3C>A (n.2153-3C>A) c.2102-3C>A (n.2102-3C>A) c.2021-3C>A (n.2021-3C>A) n.2405-3C>A | gnomAD v4 |
X | g.18613149C>T | CA1131408936 | CDKL5 | c.2153-3C>T (n.2153-3C>T) c.2102-3C>T (n.2102-3C>T) c.2021-3C>T (n.2021-3C>T) n.2405-3C>T | ClinVar gnomAD v3 gnomAD v4 |
X | g.18613150A= | CA2417977327 | CDKL5 | c.2153-2A= (n.2153-2A=) c.2102-2A= (n.2102-2A=) c.2021-2A= (n.2021-2A=) n.2405-2A= | |
X | g.18613150A>C | CA412367770 | CDKL5 | c.2153-2A>C (n.2153-2A>C) c.2102-2A>C (n.2102-2A>C) c.2021-2A>C (n.2021-2A>C) n.2405-2A>C | |
X | g.18613150A>G | CA412367768 | CDKL5 | c.2153-2A>G (n.2153-2A>G) c.2102-2A>G (n.2102-2A>G) c.2021-2A>G (n.2021-2A>G) n.2405-2A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18613150A>T | CA412367769 | CDKL5 | c.2153-2A>T (n.2153-2A>T) c.2102-2A>T (n.2102-2A>T) c.2021-2A>T (n.2021-2A>T) n.2405-2A>T | gnomAD v3 gnomAD v4 |
X | g.18613151G>A | CA412367771 | CDKL5 | c.2153-1G>A (n.2153-1G>A) c.2102-1G>A (n.2102-1G>A) c.2021-1G>A (n.2021-1G>A) n.2405-1G>A | |
X | g.18613151G>C | CA412367773 | CDKL5 | c.2153-1G>C (n.2153-1G>C) c.2102-1G>C (n.2102-1G>C) c.2021-1G>C (n.2021-1G>C) n.2405-1G>C | |
X | g.18613151G>T | CA412367775 | CDKL5 | c.2153-1G>T (n.2153-1G>T) c.2102-1G>T (n.2102-1G>T) c.2021-1G>T (n.2021-1G>T) n.2405-1G>T | gnomAD v4 |
X | g.18613152_18613153dup | CA2695231347 | CDKL5 | c.2153_2154dup c.2102_2103dup c.2021_2022dup n.2405_2406dup | |
X | g.18613152T>A | CA412367780 | CDKL5 | c.2153T>A (p.Val718Glu) c.2102T>A (p.Val701Glu) c.2021T>A (p.Val674Glu) n.2405T>A | |
X | g.18613152T>C | CA412367782 | CDKL5 | c.2153T>C (p.Val718Ala) c.2102T>C (p.Val701Ala) c.2021T>C (p.Val674Ala) n.2405T>C | |
X | g.18613152T>G | CA412367785 | CDKL5 | c.2153T>G (p.Val718Gly) c.2102T>G (p.Val701Gly) c.2021T>G (p.Val674Gly) n.2405T>G | |
X | g.18613152_18613153delinsCT | CA2695231348 | CDKL5 | c.2153_2154delinsCT (p.Val718Ala) c.2102_2103delinsCT (p.Val701Ala) c.2021_2022delinsCT (p.Val674Ala) n.2405_2406delinsCT | |
X | g.18613153G>A | CA515473155 | CDKL5 | c.2154G>A (p.Val718=) c.2103G>A (p.Val701=) c.2022G>A (p.Val674=) n.2406G>A | gnomAD v4 |
X | g.18613153G>C | CA515473156 | CDKL5 | c.2154G>C (p.Val718=) c.2103G>C (p.Val701=) c.2022G>C (p.Val674=) n.2406G>C | |
X | g.18613153G>T | CA515473158 | CDKL5 | c.2154G>T (p.Val718=) c.2103G>T (p.Val701=) c.2022G>T (p.Val674=) n.2406G>T | COSMIC |
X | g.18613153_18613154insGT | CA2695231349 | CDKL5 | c.2154_2155insGT (p.Pro719ValfsTer?) c.2103_2104insGT (p.Pro702ValfsTer?) c.2022_2023insGT (p.Pro675ValfsTer?) n.2406_2407insGT | |
X | g.18613154C>A | CA412367789 | CDKL5 | c.2155C>A (p.Pro719Thr) c.2104C>A (p.Pro702Thr) c.2023C>A (p.Pro675Thr) n.2407C>A | gnomAD v4 |
X | g.18613154C>G | CA412367790 | CDKL5 | c.2155C>G (p.Pro719Ala) c.2104C>G (p.Pro702Ala) c.2023C>G (p.Pro675Ala) n.2407C>G | |
X | g.18613154C>T | CA412367794 | CDKL5 | c.2155C>T (p.Pro719Ser) c.2104C>T (p.Pro702Ser) c.2023C>T (p.Pro675Ser) n.2407C>T | gnomAD v4 |
X | g.18613155C>A | CA412367796 | CDKL5 | c.2156C>A (p.Pro719Gln) c.2105C>A (p.Pro702Gln) c.2024C>A (p.Pro675Gln) n.2408C>A | gnomAD v4 |
X | g.18613155C>G | CA412367800 | CDKL5 | c.2156C>G (p.Pro719Arg) c.2105C>G (p.Pro702Arg) c.2024C>G (p.Pro675Arg) n.2408C>G | |
X | g.18613155C>T | CA412367802 | CDKL5 | c.2156C>T (p.Pro719Leu) c.2105C>T (p.Pro702Leu) c.2024C>T (p.Pro675Leu) n.2408C>T | |
X | g.18613156A= | CA2417977328 | CDKL5 | c.2157A= (p.Pro719=) c.2106A= (p.Pro702=) c.2025A= (p.Pro675=) n.2409A= | |
X | g.18613156A>C | CA515473162 | CDKL5 | c.2157A>C (p.Pro719=) c.2106A>C (p.Pro702=) c.2025A>C (p.Pro675=) n.2409A>C | |
X | g.18613156A>G | CA10360507 | CDKL5 | c.2157A>G (p.Pro719=) c.2106A>G (p.Pro702=) c.2025A>G (p.Pro675=) n.2409A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613156A>T | CA10360506 | CDKL5 | c.2157A>T (p.Pro719=) c.2106A>T (p.Pro702=) c.2025A>T (p.Pro675=) n.2409A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613157T>A | CA412367810 | CDKL5 | c.2158T>A (p.Ser720Thr) c.2107T>A (p.Ser703Thr) c.2026T>A (p.Ser676Thr) n.2410T>A | |
X | g.18613157T>C | CA412367817 | CDKL5 | c.2158T>C (p.Ser720Pro) c.2107T>C (p.Ser703Pro) c.2026T>C (p.Ser676Pro) n.2410T>C | |
X | g.18613157T>G | CA412367812 | CDKL5 | c.2158T>G (p.Ser720Ala) c.2107T>G (p.Ser703Ala) c.2026T>G (p.Ser676Ala) n.2410T>G | |
X | g.18613158C>A | CA412367821 | CDKL5 | c.2159C>A (p.Ser720Tyr) c.2108C>A (p.Ser703Tyr) c.2027C>A (p.Ser676Tyr) n.2411C>A | gnomAD v4 |
X | g.18613158C>G | CA412367824 | CDKL5 | c.2159C>G (p.Ser720Cys) c.2108C>G (p.Ser703Cys) c.2027C>G (p.Ser676Cys) n.2411C>G | |
X | g.18613158C>T | CA412367831 | CDKL5 | c.2159C>T (p.Ser720Phe) c.2108C>T (p.Ser703Phe) c.2027C>T (p.Ser676Phe) n.2411C>T | |
X | g.18613159T>A | CA515473166 | CDKL5 | c.2160T>A (p.Ser720=) c.2109T>A (p.Ser703=) c.2028T>A (p.Ser676=) n.2412T>A | gnomAD v4 |
X | g.18613159T>C | CA515473167 | CDKL5 | c.2160T>C (p.Ser720=) c.2109T>C (p.Ser703=) c.2028T>C (p.Ser676=) n.2412T>C | |
X | g.18613159T>G | CA515473168 | CDKL5 | c.2160T>G (p.Ser720=) c.2109T>G (p.Ser703=) c.2028T>G (p.Ser676=) n.2412T>G | |
X | g.18613160C>A | CA412367833 | CDKL5 | c.2161C>A (p.Pro721Thr) c.2110C>A (p.Pro704Thr) c.2029C>A (p.Pro677Thr) n.2413C>A | gnomAD v4 |
X | g.18613160C>G | CA412367835 | CDKL5 | c.2161C>G (p.Pro721Ala) c.2110C>G (p.Pro704Ala) c.2029C>G (p.Pro677Ala) n.2413C>G | |
X | g.18613160C>T | CA412367839 | CDKL5 | c.2161C>T (p.Pro721Ser) c.2110C>T (p.Pro704Ser) c.2029C>T (p.Pro677Ser) n.2413C>T | dbSNP |
X | g.18613161C>A | CA412367843 | CDKL5 | c.2162C>A (p.Pro721Gln) c.2111C>A (p.Pro704Gln) c.2030C>A (p.Pro677Gln) n.2414C>A | gnomAD v4 |
X | g.18613161C>G | CA412367845 | CDKL5 | c.2162C>G (p.Pro721Arg) c.2111C>G (p.Pro704Arg) c.2030C>G (p.Pro677Arg) n.2414C>G | |
X | g.18613161C>T | CA412367848 | CDKL5 | c.2162C>T (p.Pro721Leu) c.2111C>T (p.Pro704Leu) c.2030C>T (p.Pro677Leu) n.2414C>T | COSMIC |
X | g.18613162A>C | CA515473174 | CDKL5 | c.2163A>C (p.Pro721=) c.2112A>C (p.Pro704=) c.2031A>C (p.Pro677=) n.2415A>C | |
X | g.18613162A>G | CA515473172 | CDKL5 | c.2163A>G (p.Pro721=) c.2112A>G (p.Pro704=) c.2031A>G (p.Pro677=) n.2415A>G | gnomAD v4 |
X | g.18613162A>T | CA515473173 | CDKL5 | c.2163A>T (p.Pro721=) c.2112A>T (p.Pro704=) c.2031A>T (p.Pro677=) n.2415A>T | |
X | g.18613163C>A | CA412367851 | CDKL5 | c.2164C>A (p.Arg722Ser) c.2113C>A (p.Arg705Ser) c.2032C>A (p.Arg678Ser) n.2416C>A | |
X | g.18613163C= | CA2417977329 | CDKL5 | c.2164C= (p.Arg722=) c.2113C= (p.Arg705=) c.2032C= (p.Arg678=) n.2416C= | |
X | g.18613163C>G | CA412367855 | CDKL5 | c.2164C>G (p.Arg722Gly) c.2113C>G (p.Arg705Gly) c.2032C>G (p.Arg678Gly) n.2416C>G | |
X | g.18613163C>T | CA10360508 | CDKL5 | c.2164C>T (p.Arg722Cys) c.2113C>T (p.Arg705Cys) c.2032C>T (p.Arg678Cys) n.2416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613164G>A | CA412367868 | CDKL5 | c.2165G>A (p.Arg722His) c.2114G>A (p.Arg705His) c.2033G>A (p.Arg678His) n.2417G>A | ClinVar dbSNP gnomAD v4 |
X | g.18613164G>C | CA412367862 | CDKL5 | c.2165G>C (p.Arg722Pro) c.2114G>C (p.Arg705Pro) c.2033G>C (p.Arg678Pro) n.2417G>C | |
X | g.18613164G>T | CA412367865 | CDKL5 | c.2165G>T (p.Arg722Leu) c.2114G>T (p.Arg705Leu) c.2033G>T (p.Arg678Leu) n.2417G>T | |
X | g.18613165T>A | CA515473180 | CDKL5 | c.2166T>A (p.Arg722=) c.2115T>A (p.Arg705=) c.2034T>A (p.Arg678=) n.2418T>A | |
X | g.18613165T>C | CA515473181 | CDKL5 | c.2166T>C (p.Arg722=) c.2115T>C (p.Arg705=) c.2034T>C (p.Arg678=) n.2418T>C | |
X | g.18613165T>G | CA515473183 | CDKL5 | c.2166T>G (p.Arg722=) c.2115T>G (p.Arg705=) c.2034T>G (p.Arg678=) n.2418T>G | |
X | g.18613166C>A | CA412367872 | CDKL5 | c.2167C>A (p.Pro723Thr) c.2116C>A (p.Pro706Thr) c.2035C>A (p.Pro679Thr) n.2419C>A | |
X | g.18613166C>G | CA412367874 | CDKL5 | c.2167C>G (p.Pro723Ala) c.2116C>G (p.Pro706Ala) c.2035C>G (p.Pro679Ala) n.2419C>G | |
X | g.18613166C>T | CA412367879 | CDKL5 | c.2167C>T (p.Pro723Ser) c.2116C>T (p.Pro706Ser) c.2035C>T (p.Pro679Ser) n.2419C>T | ClinVar dbSNP |
X | g.18613167C>A | CA412367881 | CDKL5 | c.2168C>A (p.Pro723Gln) c.2117C>A (p.Pro706Gln) c.2036C>A (p.Pro679Gln) n.2420C>A | gnomAD v4 |
X | g.18613167C>G | CA412367884 | CDKL5 | c.2168C>G (p.Pro723Arg) c.2117C>G (p.Pro706Arg) c.2036C>G (p.Pro679Arg) n.2420C>G | |
X | g.18613167C>T | CA412367885 | CDKL5 | c.2168C>T (p.Pro723Leu) c.2117C>T (p.Pro706Leu) c.2036C>T (p.Pro679Leu) n.2420C>T | |
X | g.18613168A>C | CA515473191 | CDKL5 | c.2169A>C (p.Pro723=) c.2118A>C (p.Pro706=) c.2037A>C (p.Pro679=) n.2421A>C | |
X | g.18613168A>G | CA515473189 | CDKL5 | c.2169A>G (p.Pro723=) c.2118A>G (p.Pro706=) c.2037A>G (p.Pro679=) n.2421A>G | gnomAD v4 |
X | g.18613168A>T | CA515473190 | CDKL5 | c.2169A>T (p.Pro723=) c.2118A>T (p.Pro706=) c.2037A>T (p.Pro679=) n.2421A>T | |
X | g.18613169G>A | CA412367887 | CDKL5 | c.2170G>A (p.Asp724Asn) c.2119G>A (p.Asp707Asn) c.2038G>A (p.Asp680Asn) n.2422G>A | |
X | g.18613169G>C | CA412367891 | CDKL5 | c.2170G>C (p.Asp724His) c.2119G>C (p.Asp707His) c.2038G>C (p.Asp680His) n.2422G>C | |
X | g.18613169G>T | CA412367894 | CDKL5 | c.2170G>T (p.Asp724Tyr) c.2119G>T (p.Asp707Tyr) c.2038G>T (p.Asp680Tyr) n.2422G>T | |
X | g.18613170A= | CA2417977330 | CDKL5 | c.2171A= (p.Asp724=) c.2120A= (p.Asp707=) c.2039A= (p.Asp680=) n.2423A= | |
X | g.18613170A>C | CA412367896 | CDKL5 | c.2171A>C (p.Asp724Ala) c.2120A>C (p.Asp707Ala) c.2039A>C (p.Asp680Ala) n.2423A>C | |
X | g.18613170A>G | CA412367899 | CDKL5 | c.2171A>G (p.Asp724Gly) c.2120A>G (p.Asp707Gly) c.2039A>G (p.Asp680Gly) n.2423A>G | ClinVar |
X | g.18613170A>T | CA412367902 | CDKL5 | c.2171A>T (p.Asp724Val) c.2120A>T (p.Asp707Val) c.2039A>T (p.Asp680Val) n.2423A>T | ClinVar dbSNP |
X | g.18613171C>A | CA412367905 | CDKL5 | c.2172C>A (p.Asp724Glu) c.2121C>A (p.Asp707Glu) c.2040C>A (p.Asp680Glu) n.2424C>A | gnomAD v4 |
X | g.18613171C>G | CA412367908 | CDKL5 | c.2172C>G (p.Asp724Glu) c.2121C>G (p.Asp707Glu) c.2040C>G (p.Asp680Glu) n.2424C>G | |
X | g.18613171C>T | CA515473194 | CDKL5 | c.2172C>T (p.Asp724=) c.2121C>T (p.Asp707=) c.2040C>T (p.Asp680=) n.2424C>T | |
X | g.18613172A>C | CA412367914 | CDKL5 | c.2173A>C (p.Asn725His) c.2122A>C (p.Asn708His) c.2041A>C (p.Asn681His) n.2425A>C | gnomAD v4 |
X | g.18613172A>G | CA412367917 | CDKL5 | c.2173A>G (p.Asn725Asp) c.2122A>G (p.Asn708Asp) c.2041A>G (p.Asn681Asp) n.2425A>G | |
X | g.18613172A>T | CA412367928 | CDKL5 | c.2173A>T (p.Asn725Tyr) c.2122A>T (p.Asn708Tyr) c.2041A>T (p.Asn681Tyr) n.2425A>T | |
X | g.18613173A>C | CA412367931 | CDKL5 | c.2174A>C (p.Asn725Thr) c.2123A>C (p.Asn708Thr) c.2042A>C (p.Asn681Thr) n.2426A>C | |
X | g.18613173A>G | CA412367944 | CDKL5 | c.2174A>G (p.Asn725Ser) c.2123A>G (p.Asn708Ser) c.2042A>G (p.Asn681Ser) n.2426A>G | |
X | g.18613173A>T | CA412367946 | CDKL5 | c.2174A>T (p.Asn725Ile) c.2123A>T (p.Asn708Ile) c.2042A>T (p.Asn681Ile) n.2426A>T | |
X | g.18613174T>A | CA412367954 | CDKL5 | c.2175T>A (p.Asn725Lys) c.2124T>A (p.Asn708Lys) c.2043T>A (p.Asn681Lys) n.2427T>A | |
X | g.18613174T>C | CA515473197 | CDKL5 | c.2175T>C (p.Asn725=) c.2124T>C (p.Asn708=) c.2043T>C (p.Asn681=) n.2427T>C | |
X | g.18613174T>G | CA412367951 | CDKL5 | c.2175T>G (p.Asn725Lys) c.2124T>G (p.Asn708Lys) c.2043T>G (p.Asn681Lys) n.2427T>G | |
X | g.18613175T>A | CA412367957 | CDKL5 | c.2176T>A (p.Ser726Thr) c.2125T>A (p.Ser709Thr) c.2044T>A (p.Ser682Thr) n.2428T>A | |
X | g.18613175T>C | CA412367959 | CDKL5 | c.2176T>C (p.Ser726Pro) c.2125T>C (p.Ser709Pro) c.2044T>C (p.Ser682Pro) n.2428T>C | |
X | g.18613175T>G | CA412367961 | CDKL5 | c.2176T>G (p.Ser726Ala) c.2125T>G (p.Ser709Ala) c.2044T>G (p.Ser682Ala) n.2428T>G | |
X | g.18613176C>A | CA412367964 | CDKL5 | c.2177C>A (p.Ser726Tyr) c.2126C>A (p.Ser709Tyr) c.2045C>A (p.Ser682Tyr) n.2429C>A | gnomAD v4 |
X | g.18613176C>G | CA412367967 | CDKL5 | c.2177C>G (p.Ser726Cys) c.2126C>G (p.Ser709Cys) c.2045C>G (p.Ser682Cys) n.2429C>G | |
X | g.18613176C>T | CA412367970 | CDKL5 | c.2177C>T (p.Ser726Phe) c.2126C>T (p.Ser709Phe) c.2045C>T (p.Ser682Phe) n.2429C>T | |
X | g.18613177_18613181del | CA658794141 | CDKL5 | c.2178_2182del (p.Phe727Ter) c.2127_2131del (p.Phe710Ter) c.2046_2050del (p.Phe683Ter) n.2430_2434del | |
X | g.18613176_18613185delinsAATGTGTCAAC | CA2695231350 | CDKL5 | c.2177_2186delinsAATGTGTCAAC (p.Ser726Ter) c.2126_2135delinsAATGTGTCAAC (p.Ser709Ter) c.2045_2054delinsAATGTGTCAAC (p.Ser682Ter) n.2429_2438delinsAATGTGTCAAC | |
X | g.18613177T>A | CA515473202 | CDKL5 | c.2178T>A (p.Ser726=) c.2127T>A (p.Ser709=) c.2046T>A (p.Ser682=) n.2430T>A | |
X | g.18613177T>C | CA515473203 | CDKL5 | c.2178T>C (p.Ser726=) c.2127T>C (p.Ser709=) c.2046T>C (p.Ser682=) n.2430T>C | |
X | g.18613177T>G | CA515473204 | CDKL5 | c.2178T>G (p.Ser726=) c.2127T>G (p.Ser709=) c.2046T>G (p.Ser682=) n.2430T>G | |
X | g.18613178T>A | CA412367976 | CDKL5 | c.2179T>A (p.Phe727Ile) c.2128T>A (p.Phe710Ile) c.2047T>A (p.Phe683Ile) n.2431T>A | |
X | g.18613178T>C | CA412367980 | CDKL5 | c.2179T>C (p.Phe727Leu) c.2128T>C (p.Phe710Leu) c.2047T>C (p.Phe683Leu) n.2431T>C | |
X | g.18613178T>G | CA412367978 | CDKL5 | c.2179T>G (p.Phe727Val) c.2128T>G (p.Phe710Val) c.2047T>G (p.Phe683Val) n.2431T>G | |
X | g.18613179T>A | CA412367982 | CDKL5 | c.2180T>A (p.Phe727Tyr) c.2129T>A (p.Phe710Tyr) c.2048T>A (p.Phe683Tyr) n.2432T>A | |
X | g.18613179T>C | CA412367984 | CDKL5 | c.2180T>C (p.Phe727Ser) c.2129T>C (p.Phe710Ser) c.2048T>C (p.Phe683Ser) n.2432T>C | gnomAD v4 |
X | g.18613179T>G | CA412367989 | CDKL5 | c.2180T>G (p.Phe727Cys) c.2129T>G (p.Phe710Cys) c.2048T>G (p.Phe683Cys) n.2432T>G | |
X | g.18613179_18613180delinsTC | CA2417977331 | CDKL5 | c.2180_2181delinsTC (p.Phe727=) c.2129_2130delinsTC (p.Phe710=) c.2048_2049delinsTC (p.Phe683=) n.2432_2433delinsTC | |
X | g.18613180C>A | CA412367990 | CDKL5 | c.2181C>A (p.Phe727Leu) c.2130C>A (p.Phe710Leu) c.2049C>A (p.Phe683Leu) n.2433C>A | |
X | g.18613180C>G | CA412367991 | CDKL5 | c.2181C>G (p.Phe727Leu) c.2130C>G (p.Phe710Leu) c.2049C>G (p.Phe683Leu) n.2433C>G | |
X | g.18613180C>T | CA515473208 | CDKL5 | c.2181C>T (p.Phe727=) c.2130C>T (p.Phe710=) c.2049C>T (p.Phe683=) n.2433C>T | |
X | g.18613181del | CA916083846 | CDKL5 | c.2182del (p.His728MetfsTer?) c.2131del (p.His711MetfsTer?) c.2050del (p.His684MetfsTer?) n.2434del | ClinVar dbSNP |
X | g.18613181C>A | CA412367992 | CDKL5 | c.2182C>A (p.His728Asn) c.2131C>A (p.His711Asn) c.2050C>A (p.His684Asn) n.2434C>A | |
X | g.18613181C>G | CA412367993 | CDKL5 | c.2182C>G (p.His728Asp) c.2131C>G (p.His711Asp) c.2050C>G (p.His684Asp) n.2434C>G | |
X | g.18613181C>T | CA412367995 | CDKL5 | c.2182C>T (p.His728Tyr) c.2131C>T (p.His711Tyr) c.2050C>T (p.His684Tyr) n.2434C>T | gnomAD v4 |
X | g.18613182A= | CA2417977332 | CDKL5 | c.2183A= (p.His728=) c.2132A= (p.His711=) c.2051A= (p.His684=) n.2435A= | |
X | g.18613182A>C | CA412367997 | CDKL5 | c.2183A>C (p.His728Pro) c.2132A>C (p.His711Pro) c.2051A>C (p.His684Pro) n.2435A>C | |
X | g.18613182A>G | CA412368002 | CDKL5 | c.2183A>G (p.His728Arg) c.2132A>G (p.His711Arg) c.2051A>G (p.His684Arg) n.2435A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613182A>T | CA412368004 | CDKL5 | c.2183A>T (p.His728Leu) c.2132A>T (p.His711Leu) c.2051A>T (p.His684Leu) n.2435A>T | |
X | g.18613183T>A | CA412368007 | CDKL5 | c.2184T>A (p.His728Gln) c.2133T>A (p.His711Gln) c.2052T>A (p.His684Gln) n.2436T>A | |
X | g.18613183T>C | CA515473211 | CDKL5 | c.2184T>C (p.His728=) c.2133T>C (p.His711=) c.2052T>C (p.His684=) n.2436T>C | |
X | g.18613183T>G | CA412368009 | CDKL5 | c.2184T>G (p.His728Gln) c.2133T>G (p.His711Gln) c.2052T>G (p.His684Gln) n.2436T>G | |
X | g.18613184G>A | CA412368010 | CDKL5 | c.2185G>A (p.Glu729Lys) c.2134G>A (p.Glu712Lys) c.2053G>A (p.Glu685Lys) n.2437G>A | |
X | g.18613184G>C | CA412368012 | CDKL5 | c.2185G>C (p.Glu729Gln) c.2134G>C (p.Glu712Gln) c.2053G>C (p.Glu685Gln) n.2437G>C | |
X | g.18613184G>T | CA412368015 | CDKL5 | c.2185G>T (p.Glu729Ter) c.2134G>T (p.Glu712Ter) c.2053G>T (p.Glu685Ter) n.2437G>T | gnomAD v4 |
X | g.18613185A>C | CA412368018 | CDKL5 | c.2186A>C (p.Glu729Ala) c.2135A>C (p.Glu712Ala) c.2054A>C (p.Glu685Ala) n.2438A>C | |
X | g.18613185A>G | CA412368021 | CDKL5 | c.2186A>G (p.Glu729Gly) c.2135A>G (p.Glu712Gly) c.2054A>G (p.Glu685Gly) n.2438A>G | |
X | g.18613185A>T | CA412368023 | CDKL5 | c.2186A>T (p.Glu729Val) c.2135A>T (p.Glu712Val) c.2054A>T (p.Glu685Val) n.2438A>T | |
X | g.18613186A>C | CA412368025 | CDKL5 | c.2187A>C (p.Glu729Asp) c.2136A>C (p.Glu712Asp) c.2055A>C (p.Glu685Asp) n.2439A>C | |
X | g.18613186A>G | CA515473216 | CDKL5 | c.2187A>G (p.Glu729=) c.2136A>G (p.Glu712=) c.2055A>G (p.Glu685=) n.2439A>G | |
X | g.18613186A>T | CA412368028 | CDKL5 | c.2187A>T (p.Glu729Asp) c.2136A>T (p.Glu712Asp) c.2055A>T (p.Glu685Asp) n.2439A>T | |
X | g.18613187A>C | CA412368030 | CDKL5 | c.2188A>C (p.Asn730His) c.2137A>C (p.Asn713His) c.2056A>C (p.Asn686His) n.2440A>C | |
X | g.18613187A>G | CA412368032 | CDKL5 | c.2188A>G (p.Asn730Asp) c.2137A>G (p.Asn713Asp) c.2056A>G (p.Asn686Asp) n.2440A>G | |
X | g.18613187A>T | CA412368033 | CDKL5 | c.2188A>T (p.Asn730Tyr) c.2137A>T (p.Asn713Tyr) c.2056A>T (p.Asn686Tyr) n.2440A>T | |
X | g.18613188A>C | CA412368037 | CDKL5 | c.2189A>C (p.Asn730Thr) c.2138A>C (p.Asn713Thr) c.2057A>C (p.Asn686Thr) n.2441A>C | |
X | g.18613188A>G | CA412368038 | CDKL5 | c.2189A>G (p.Asn730Ser) c.2138A>G (p.Asn713Ser) c.2057A>G (p.Asn686Ser) n.2441A>G | |
X | g.18613188A>T | CA412368041 | CDKL5 | c.2189A>T (p.Asn730Ile) c.2138A>T (p.Asn713Ile) c.2057A>T (p.Asn686Ile) n.2441A>T | |
X | g.18613189T>A | CA412368047 | CDKL5 | c.2190T>A (p.Asn730Lys) c.2139T>A (p.Asn713Lys) c.2058T>A (p.Asn686Lys) n.2442T>A | |
X | g.18613189T>C | CA515473218 | CDKL5 | c.2190T>C (p.Asn730=) c.2139T>C (p.Asn713=) c.2058T>C (p.Asn686=) n.2442T>C | gnomAD v4 |
X | g.18613189T>G | CA412368044 | CDKL5 | c.2190T>G (p.Asn730Lys) c.2139T>G (p.Asn713Lys) c.2058T>G (p.Asn686Lys) n.2442T>G | |
X | g.18613190A>C | CA412368050 | CDKL5 | c.2191A>C (p.Asn731His) c.2140A>C (p.Asn714His) c.2059A>C (p.Asn687His) n.2443A>C | |
X | g.18613190A>G | CA412368052 | CDKL5 | c.2191A>G (p.Asn731Asp) c.2140A>G (p.Asn714Asp) c.2059A>G (p.Asn687Asp) n.2443A>G | |
X | g.18613190A>T | CA412368053 | CDKL5 | c.2191A>T (p.Asn731Tyr) c.2140A>T (p.Asn714Tyr) c.2059A>T (p.Asn687Tyr) n.2443A>T | |
X | g.18613191A= | CA2417977333 | CDKL5 | c.2192A= (p.Asn731=) c.2141A= (p.Asn714=) c.2060A= (p.Asn687=) n.2444A= | |
X | g.18613191A>C | CA412368055 | CDKL5 | c.2192A>C (p.Asn731Thr) c.2141A>C (p.Asn714Thr) c.2060A>C (p.Asn687Thr) n.2444A>C | |
X | g.18613191A>G | CA412368062 | CDKL5 | c.2192A>G (p.Asn731Ser) c.2141A>G (p.Asn714Ser) c.2060A>G (p.Asn687Ser) n.2444A>G | dbSNP gnomAD v4 |
X | g.18613191A>T | CA412368066 | CDKL5 | c.2192A>T (p.Asn731Ile) c.2141A>T (p.Asn714Ile) c.2060A>T (p.Asn687Ile) n.2444A>T | |
X | g.18613192T>A | CA412368074 | CDKL5 | c.2193T>A (p.Asn731Lys) c.2142T>A (p.Asn714Lys) c.2061T>A (p.Asn687Lys) n.2445T>A | |
X | g.18613192T>C | CA515473223 | CDKL5 | c.2193T>C (p.Asn731=) c.2142T>C (p.Asn714=) c.2061T>C (p.Asn687=) n.2445T>C | ClinVar dbSNP gnomAD v4 |
X | g.18613192T>G | CA412368068 | CDKL5 | c.2193T>G (p.Asn731Lys) c.2142T>G (p.Asn714Lys) c.2061T>G (p.Asn687Lys) n.2445T>G | |
X | g.18613192T= | CA2417977334 | CDKL5 | c.2193T= (p.Asn731=) c.2142T= (p.Asn714=) c.2061T= (p.Asn687=) n.2445T= | |
X | g.18613193G>A | CA326989717 | CDKL5 | c.2194G>A (p.Val732Met) c.2143G>A (p.Val715Met) c.2062G>A (p.Val688Met) n.2446G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18613193G>C | CA412368080 | CDKL5 | c.2194G>C (p.Val732Leu) c.2143G>C (p.Val715Leu) c.2062G>C (p.Val688Leu) n.2446G>C | |
X | g.18613193G= | CA2417977335 | CDKL5 | c.2194G= (p.Val732=) c.2143G= (p.Val715=) c.2062G= (p.Val688=) n.2446G= | |
X | g.18613193G>T | CA412368082 | CDKL5 | c.2194G>T (p.Val732Leu) c.2143G>T (p.Val715Leu) c.2062G>T (p.Val688Leu) n.2446G>T | |
X | g.18613194T>A | CA412368086 | CDKL5 | c.2195T>A (p.Val732Glu) c.2144T>A (p.Val715Glu) c.2063T>A (p.Val688Glu) n.2447T>A | ClinVar dbSNP |
X | g.18613194T>C | CA412368089 | CDKL5 | c.2195T>C (p.Val732Ala) c.2144T>C (p.Val715Ala) c.2063T>C (p.Val688Ala) n.2447T>C | |
X | g.18613194T>G | CA412368092 | CDKL5 | c.2195T>G (p.Val732Gly) c.2144T>G (p.Val715Gly) c.2063T>G (p.Val688Gly) n.2447T>G | |
X | g.18613194T= | CA2417977336 | CDKL5 | c.2195T= (p.Val732=) c.2144T= (p.Val715=) c.2063T= (p.Val688=) n.2447T= | |
X | g.18613195G>A | CA515473225 | CDKL5 | c.2196G>A (p.Val732=) c.2145G>A (p.Val715=) c.2064G>A (p.Val688=) n.2448G>A | |
X | g.18613195G>C | CA515473226 | CDKL5 | c.2196G>C (p.Val732=) c.2145G>C (p.Val715=) c.2064G>C (p.Val688=) n.2448G>C | |
X | g.18613195G= | CA2417977337 | CDKL5 | c.2196G= (p.Val732=) c.2145G= (p.Val715=) c.2064G= (p.Val688=) n.2448G= | |
X | g.18613195G>T | CA515473228 | CDKL5 | c.2196G>T (p.Val732=) c.2145G>T (p.Val715=) c.2064G>T (p.Val688=) n.2448G>T | dbSNP |
X | g.18613196_18613203dup | CA916083847 | CDKL5 | c.2197_2204dup (p.Arg735SerfsTer?) c.2146_2153dup (p.Arg718SerfsTer?) c.2065_2072dup (p.Arg691SerfsTer?) n.2449_2456dup | ClinVar dbSNP |
X | g.18613196T>A | CA412368102 | CDKL5 | c.2197T>A (p.Ser733Thr) c.2146T>A (p.Ser716Thr) c.2065T>A (p.Ser689Thr) n.2449T>A | |
X | g.18613196T>C | CA412368096 | CDKL5 | c.2197T>C (p.Ser733Pro) c.2146T>C (p.Ser716Pro) c.2065T>C (p.Ser689Pro) n.2449T>C | |
X | g.18613196T>G | CA412368099 | CDKL5 | c.2197T>G (p.Ser733Ala) c.2146T>G (p.Ser716Ala) c.2065T>G (p.Ser689Ala) n.2449T>G | |
X | g.18613197C>A | CA412368106 | CDKL5 | c.2198C>A (p.Ser733Ter) c.2147C>A (p.Ser716Ter) c.2066C>A (p.Ser689Ter) n.2450C>A | gnomAD v4 |
X | g.18613197C>G | CA412368108 | CDKL5 | c.2198C>G (p.Ser733Ter) c.2147C>G (p.Ser716Ter) c.2066C>G (p.Ser689Ter) n.2450C>G | |
X | g.18613197C>T | CA412368111 | CDKL5 | c.2198C>T (p.Ser733Leu) c.2147C>T (p.Ser716Leu) c.2066C>T (p.Ser689Leu) n.2450C>T | |
X | g.18613198A>C | CA515473230 | CDKL5 | c.2199A>C (p.Ser733=) c.2148A>C (p.Ser716=) c.2067A>C (p.Ser689=) n.2451A>C | |
X | g.18613198A>G | CA515473231 | CDKL5 | c.2199A>G (p.Ser733=) c.2148A>G (p.Ser716=) c.2067A>G (p.Ser689=) n.2451A>G | |
X | g.18613198A>T | CA515473234 | CDKL5 | c.2199A>T (p.Ser733=) c.2148A>T (p.Ser716=) c.2067A>T (p.Ser689=) n.2451A>T | |
X | g.18613199A= | CA2417977338 | CDKL5 | c.2200A= (p.Thr734=) c.2149A= (p.Thr717=) c.2068A= (p.Thr690=) n.2452A= | |
X | g.18613199A>C | CA412368114 | CDKL5 | c.2200A>C (p.Thr734Pro) c.2149A>C (p.Thr717Pro) c.2068A>C (p.Thr690Pro) n.2452A>C | |
X | g.18613199A>G | CA171623 | CDKL5 | c.2200A>G (p.Thr734Ala) c.2149A>G (p.Thr717Ala) c.2068A>G (p.Thr690Ala) n.2452A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18613199A>T | CA412368119 | CDKL5 | c.2200A>T (p.Thr734Ser) c.2149A>T (p.Thr717Ser) c.2068A>T (p.Thr690Ser) n.2452A>T | |
X | g.18613200C>A | CA412368128 | CDKL5 | c.2201C>A (p.Thr734Asn) c.2150C>A (p.Thr717Asn) c.2069C>A (p.Thr690Asn) n.2453C>A | |
X | g.18613200C>G | CA412368123 | CDKL5 | c.2201C>G (p.Thr734Ser) c.2150C>G (p.Thr717Ser) c.2069C>G (p.Thr690Ser) n.2453C>G | |
X | g.18613200C>T | CA412368124 | CDKL5 | c.2201C>T (p.Thr734Ile) c.2150C>T (p.Thr717Ile) c.2069C>T (p.Thr690Ile) n.2453C>T | |
X | g.18613200_18613203dup | CA2573158480 | CDKL5 | c.2201_2204dup (p.Arg735SerfsTer2) c.2150_2153dup (p.Arg718SerfsTer2) c.2069_2072dup (p.Arg691SerfsTer2) n.2453_2456dup | ClinVar dbSNP |
X | g.18613201T>A | CA515473238 | CDKL5 | c.2202T>A (p.Thr734=) c.2151T>A (p.Thr717=) c.2070T>A (p.Thr690=) n.2454T>A | |
X | g.18613201T>C | CA515473241 | CDKL5 | c.2202T>C (p.Thr734=) c.2151T>C (p.Thr717=) c.2070T>C (p.Thr690=) n.2454T>C | |
X | g.18613201T>G | CA515473242 | CDKL5 | c.2202T>G (p.Thr734=) c.2151T>G (p.Thr717=) c.2070T>G (p.Thr690=) n.2454T>G | |
X | g.18613201_18613203delinsTAG | CA2417977339 | CDKL5 | c.2202_2204delinsTAG (p.Thr734=) c.2151_2153delinsTAG (p.Thr717=) c.2070_2072delinsTAG (p.Thr690=) n.2454_2456delinsTAG | |
X | g.18613202A= | CA2417977340 | CDKL5 | c.2203A= (p.Arg735=) c.2152A= (p.Arg718=) c.2071A= (p.Arg691=) n.2455A= | |
X | g.18613202A>C | CA515473243 | CDKL5 | c.2203A>C (p.Arg735=) c.2152A>C (p.Arg718=) c.2071A>C (p.Arg691=) n.2455A>C | |
X | g.18613202A>G | CA412368131 | CDKL5 | c.2203A>G (p.Arg735Gly) c.2152A>G (p.Arg718Gly) c.2071A>G (p.Arg691Gly) n.2455A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18613202A>T | CA412368134 | CDKL5 | c.2203A>T (p.Arg735Ter) c.2152A>T (p.Arg718Ter) c.2071A>T (p.Arg691Ter) n.2455A>T | |
X | g.18613202dup | CA2695231351 | CDKL5 | c.2203dup (p.Arg735LysfsTer29) c.2152dup (p.Arg718LysfsTer29) c.2071dup (p.Arg691LysfsTer29) n.2455dup | |
X | g.18613204_18613205del | CA294686 | CDKL5 | c.2205_2206del (p.Arg735SerfsTer28) c.2154_2155del (p.Arg718SerfsTer28) c.2073_2074del (p.Arg691SerfsTer28) n.2457_2458del | ClinVar dbSNP |