Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18613088_18613089delCA2693223071CDKL5c.2153-64_2153-63del (n.2153-64_2153-63del)
c.2102-64_2102-63del (n.2102-64_2102-63del)
c.2021-64_2021-63del (n.2021-64_2021-63del)
n.2405-64_2405-63del
 gnomAD v4
Xg.18613087T>ACA1131408819CDKL5c.2153-65T>A (n.2153-65T>A)
c.2102-65T>A (n.2102-65T>A)
c.2021-65T>A (n.2021-65T>A)
n.2405-65T>A
 gnomAD v3 gnomAD v4
Xg.18613087T>CCA1131408821CDKL5c.2153-65T>C (n.2153-65T>C)
c.2102-65T>C (n.2102-65T>C)
c.2021-65T>C (n.2021-65T>C)
n.2405-65T>C
 gnomAD v3 gnomAD v4
Xg.18613090_18613093delCA2693223073CDKL5c.2153-62_2153-59del (n.2153-62_2153-59del)
c.2102-62_2102-59del (n.2102-62_2102-59del)
c.2021-62_2021-59del (n.2021-62_2021-59del)
n.2405-62_2405-59del
 gnomAD v4
Xg.18613087_18613147delinsTCTGTCTAAAAAAAAAAAAAAAAAAAAAGAAAAGTCCATCAGTGACTTACTTTTTCTTTATCA2417977273CDKL5c.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
Xg.18613088C>ACA1131408826CDKL5c.2153-64C>A (n.2153-64C>A)
c.2102-64C>A (n.2102-64C>A)
c.2021-64C>A (n.2021-64C>A)
n.2405-64C>A
 gnomAD v3 gnomAD v4
Xg.18613088C>TCA2534358397CDKL5c.2153-64C>T (n.2153-64C>T)
c.2102-64C>T (n.2102-64C>T)
c.2021-64C>T (n.2021-64C>T)
n.2405-64C>T
Xg.18613088_18613147delinsGCA1139667249CDKL5c.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
Xg.18613089T>ACA2693223074CDKL5c.2153-63T>A (n.2153-63T>A)
c.2102-63T>A (n.2102-63T>A)
c.2021-63T>A (n.2021-63T>A)
n.2405-63T>A
 gnomAD v4
Xg.18613089T>CCA1131408828CDKL5c.2153-63T>C (n.2153-63T>C)
c.2102-63T>C (n.2102-63T>C)
c.2021-63T>C (n.2021-63T>C)
n.2405-63T>C
 gnomAD v3 gnomAD v4
Xg.18613090G>ACA1131408833CDKL5c.2153-62G>A (n.2153-62G>A)
c.2102-62G>A (n.2102-62G>A)
c.2021-62G>A (n.2021-62G>A)
n.2405-62G>A
 gnomAD v3 gnomAD v4
Xg.18613090G>TCA2553484595CDKL5c.2153-62G>T (n.2153-62G>T)
c.2102-62G>T (n.2102-62G>T)
c.2021-62G>T (n.2021-62G>T)
n.2405-62G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18613091T>ACA873671197CDKL5c.2153-61T>A (n.2153-61T>A)
c.2102-61T>A (n.2102-61T>A)
c.2021-61T>A (n.2021-61T>A)
n.2405-61T>A
 dbSNP gnomAD v4
Xg.18613091T>GCA2693223075CDKL5c.2153-61T>G (n.2153-61T>G)
c.2102-61T>G (n.2102-61T>G)
c.2021-61T>G (n.2021-61T>G)
n.2405-61T>G
 gnomAD v4
Xg.18613091T=CA2417977274CDKL5c.2153-61T= (n.2153-61T=)
c.2102-61T= (n.2102-61T=)
c.2021-61T= (n.2021-61T=)
n.2405-61T=
Xg.18613091_18613092delinsTCCA2417977275CDKL5c.2153-61_2153-60delinsTC (n.2153-61_2153-60delinsTC)
c.2102-61_2102-60delinsTC (n.2102-61_2102-60delinsTC)
c.2021-61_2021-60delinsTC (n.2021-61_2021-60delinsTC)
n.2405-61_2405-60delinsTC
Xg.18613092_18613093delCA2571533041CDKL5c.2153-60_2153-59del (n.2153-60_2153-59del)
c.2102-60_2102-59del (n.2102-60_2102-59del)
c.2021-60_2021-59del (n.2021-60_2021-59del)
n.2405-60_2405-59del
Xg.18613091_18613101delinsTCTAAAAAAAACA2417977276CDKL5c.2153-61_2153-51delinsTCTAAAAAAAA (n.2153-61_2153-51delinsTCTAAAAAAAA)
c.2102-61_2102-51delinsTCTAAAAAAAA (n.2102-61_2102-51delinsTCTAAAAAAAA)
c.2021-61_2021-51delinsTCTAAAAAAAA (n.2021-61_2021-51delinsTCTAAAAAAAA)
n.2405-61_2405-51delinsTCTAAAAAAAA
Xg.18613092delCA515473132CDKL5c.2153-60del (n.2153-60del)
c.2102-60del (n.2102-60del)
c.2021-60del (n.2021-60del)
n.2405-60del
 dbSNP
Xg.18613092C>ACA640513663CDKL5c.2153-60C>A (n.2153-60C>A)
c.2102-60C>A (n.2102-60C>A)
c.2021-60C>A (n.2021-60C>A)
n.2405-60C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613092C=CA2417977277CDKL5c.2153-60C= (n.2153-60C=)
c.2102-60C= (n.2102-60C=)
c.2021-60C= (n.2021-60C=)
n.2405-60C=
Xg.18613092C>GCA2693223076CDKL5c.2153-60C>G (n.2153-60C>G)
c.2102-60C>G (n.2102-60C>G)
c.2021-60C>G (n.2021-60C>G)
n.2405-60C>G
 gnomAD v4
Xg.18613092C>TCA1131408835CDKL5c.2153-60C>T (n.2153-60C>T)
c.2102-60C>T (n.2102-60C>T)
c.2021-60C>T (n.2021-60C>T)
n.2405-60C>T
 gnomAD v3 gnomAD v4
Xg.18613092_18613094delCA2509903023CDKL5c.2153-60_2153-58del (n.2153-60_2153-58del)
c.2102-60_2102-58del (n.2102-60_2102-58del)
c.2021-60_2021-58del (n.2021-60_2021-58del)
n.2405-60_2405-58del
Xg.18613092_18613101delCA2417977278CDKL5c.2153-60_2153-51del (n.2153-60_2153-51del)
c.2102-60_2102-51del (n.2102-60_2102-51del)
c.2021-60_2021-51del (n.2021-60_2021-51del)
n.2405-60_2405-51del
 dbSNP
Xg.18613092_18613093insACA2417977279CDKL5c.2153-60_2153-59insA (n.2153-60_2153-59insA)
c.2102-60_2102-59insA (n.2102-60_2102-59insA)
c.2021-60_2021-59insA (n.2021-60_2021-59insA)
n.2405-60_2405-59insA
 dbSNP
Xg.18613092_18613093insAACA2693223078CDKL5c.2153-60_2153-59insAA (n.2153-60_2153-59insAA)
c.2102-60_2102-59insAA (n.2102-60_2102-59insAA)
c.2021-60_2021-59insAA (n.2021-60_2021-59insAA)
n.2405-60_2405-59insAA
 gnomAD v4
Xg.18613093delCA2693223079CDKL5c.2153-59del (n.2153-59del)
c.2102-59del (n.2102-59del)
c.2021-59del (n.2021-59del)
n.2405-59del
 gnomAD v4
Xg.18613093T>ACA873671202CDKL5c.2153-59T>A (n.2153-59T>A)
c.2102-59T>A (n.2102-59T>A)
c.2021-59T>A (n.2021-59T>A)
n.2405-59T>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18613093T=CA2417977281CDKL5c.2153-59T= (n.2153-59T=)
c.2102-59T= (n.2102-59T=)
c.2021-59T= (n.2021-59T=)
n.2405-59T=
Xg.18613093dupCA2693223077CDKL5c.2153-59dup (n.2153-59dup)
c.2102-59dup (n.2102-59dup)
c.2021-59dup (n.2021-59dup)
n.2405-59dup
 gnomAD v4
Xg.18613093_18613109delinsTAAAAAAAAAAAAAAAACA2417977280CDKL5c.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
Xg.18613093_18613094insGACA2819901234CDKL5c.2153-59_2153-58insGA (n.2153-59_2153-58insGA)
c.2102-59_2102-58insGA (n.2102-59_2102-58insGA)
c.2021-59_2021-58insGA (n.2021-59_2021-58insGA)
n.2405-59_2405-58insGA
Xg.18613094A=CA2417977282CDKL5c.2153-58A= (n.2153-58A=)
c.2102-58A= (n.2102-58A=)
c.2021-58A= (n.2021-58A=)
n.2405-58A=
Xg.18613094A>CCA1131408866CDKL5c.2153-58A>C (n.2153-58A>C)
c.2102-58A>C (n.2102-58A>C)
c.2021-58A>C (n.2021-58A>C)
n.2405-58A>C
 gnomAD v3 gnomAD v4
Xg.18613094A>GCA2693223083CDKL5c.2153-58A>G (n.2153-58A>G)
c.2102-58A>G (n.2102-58A>G)
c.2021-58A>G (n.2021-58A>G)
n.2405-58A>G
 gnomAD v4
Xg.18613094A>TCA873671242CDKL5c.2153-58A>T (n.2153-58A>T)
c.2102-58A>T (n.2102-58A>T)
c.2021-58A>T (n.2021-58A>T)
n.2405-58A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18613095_18613096insCAAAAACA2693223080CDKL5c.2153-57_2153-56insCAAAAA (n.2153-57_2153-56insCAAAAA)
c.2102-57_2102-56insCAAAAA (n.2102-57_2102-56insCAAAAA)
c.2021-57_2021-56insCAAAAA (n.2021-57_2021-56insCAAAAA)
n.2405-57_2405-56insCAAAAA
 gnomAD v4
Xg.18613099_18613100insCAAAAAAAAAAAAACA1131408891CDKL5c.2153-53_2153-52insCAAAAAAAAAAAAA (n.2153-53_2153-52insCAAAAAAAAAAAAA)
c.2102-53_2102-52insCAAAAAAAAAAAAA (n.2102-53_2102-52insCAAAAAAAAAAAAA)
c.2021-53_2021-52insCAAAAAAAAAAAAA (n.2021-53_2021-52insCAAAAAAAAAAAAA)
n.2405-53_2405-52insCAAAAAAAAAAAAA
 gnomAD v3 gnomAD v4
Xg.18613108_18613109insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA2693223088CDKL5c.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
Xg.18613114dupCA326989668CDKL5c.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
Xg.18613113_18613114dupCA640513670CDKL5c.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
Xg.18613112_18613114dupCA1131408889CDKL5c.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
Xg.18613111_18613114dupCA1131408885CDKL5c.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
Xg.18613110_18613114dupCA640513667CDKL5c.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
Xg.18613109_18613114dupCA640513665CDKL5c.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
Xg.18613108_18613114dupCA1131408882CDKL5c.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
Xg.18613107_18613114dupCA1131408880CDKL5c.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
Xg.18613106_18613114dupCA2693223084CDKL5c.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
Xg.18613105_18613114dupCA2693223085CDKL5c.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
Xg.18613104_18613114dupCA2693223086CDKL5c.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
Xg.18613102_18613114dupCA1131408879CDKL5c.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
Xg.18613101_18613114dupCA2693223087CDKL5c.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
Xg.18613095_18613114dupCA1131408878CDKL5c.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
Xg.18613094_18613114dupCA1131408874CDKL5c.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
Xg.18613114delCA640513672CDKL5c.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
Xg.18613113_18613114delCA1131408853CDKL5c.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
Xg.18613112_18613114delCA1131408847CDKL5c.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
Xg.18613111_18613114delCA873671283CDKL5c.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
Xg.18613110_18613114delCA873671269CDKL5c.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
Xg.18613109_18613114delCA657739561CDKL5c.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
Xg.18613108_18613114delCA873671266CDKL5c.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
Xg.18613107_18613114delCA2693223081CDKL5c.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
Xg.18613106_18613114delCA2525609748CDKL5c.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
Xg.18613105_18613114delCA326989673CDKL5c.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
Xg.18613104_18613114delCA326989670CDKL5c.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
Xg.18613103_18613114delCA873671245CDKL5c.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
Xg.18613102_18613114delCA2693223082CDKL5c.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
Xg.18613101_18613114delCA2819901221CDKL5c.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
Xg.18613100_18613114delCA1131408860CDKL5c.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
Xg.18613099_18613114delCA873671244CDKL5c.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
Xg.18613095A>GCA2693223089CDKL5c.2153-57A>G (n.2153-57A>G)
c.2102-57A>G (n.2102-57A>G)
c.2021-57A>G (n.2021-57A>G)
n.2405-57A>G
 gnomAD v4
Xg.18613095A>TCA2693223090CDKL5c.2153-57A>T (n.2153-57A>T)
c.2102-57A>T (n.2102-57A>T)
c.2021-57A>T (n.2021-57A>T)
n.2405-57A>T
 gnomAD v4
Xg.18613096A>GCA2819901247CDKL5c.2153-56A>G (n.2153-56A>G)
c.2102-56A>G (n.2102-56A>G)
c.2021-56A>G (n.2021-56A>G)
n.2405-56A>G
Xg.18613096A>TCA2693223091CDKL5c.2153-56A>T (n.2153-56A>T)
c.2102-56A>T (n.2102-56A>T)
c.2021-56A>T (n.2021-56A>T)
n.2405-56A>T
 gnomAD v4
Xg.18613100A=CA2417977283CDKL5c.2153-52A= (n.2153-52A=)
c.2102-52A= (n.2102-52A=)
c.2021-52A= (n.2021-52A=)
n.2405-52A=
Xg.18613100A>GCA2417977284CDKL5c.2153-52A>G (n.2153-52A>G)
c.2102-52A>G (n.2102-52A>G)
c.2021-52A>G (n.2021-52A>G)
n.2405-52A>G
 dbSNP
Xg.18613101A=CA2417977285CDKL5c.2153-51A= (n.2153-51A=)
c.2102-51A= (n.2102-51A=)
c.2021-51A= (n.2021-51A=)
n.2405-51A=
Xg.18613101A>GCA2417977286CDKL5c.2153-51A>G (n.2153-51A>G)
c.2102-51A>G (n.2102-51A>G)
c.2021-51A>G (n.2021-51A>G)
n.2405-51A>G
 dbSNP gnomAD v4
Xg.18613102A>CCA2741734601CDKL5c.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
Xg.18613102A>GCA2567299220CDKL5c.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
Xg.18613102_18613103insGCA2819901255CDKL5c.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
Xg.18613103A=CA2417977287CDKL5c.2153-49A= (n.2153-49A=)
c.2102-49A= (n.2102-49A=)
c.2021-49A= (n.2021-49A=)
n.2405-49A=
Xg.18613103A>GCA2417977288CDKL5c.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
Xg.18613103A>TCA1131408896CDKL5c.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
Xg.18613104A>GCA2693223092CDKL5c.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
Xg.18613105A=CA2417977289CDKL5c.2153-47A= (n.2153-47A=)
c.2102-47A= (n.2102-47A=)
c.2021-47A= (n.2021-47A=)
n.2405-47A=
Xg.18613105A>GCA640513676CDKL5c.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
Xg.18613106A>GCA2693223093CDKL5c.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
Xg.18613106A>TCA2693223094CDKL5c.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
Xg.18613107A=CA2417977290CDKL5c.2153-45A= (n.2153-45A=)
c.2102-45A= (n.2102-45A=)
c.2021-45A= (n.2021-45A=)
n.2405-45A=
Xg.18613107A>GCA10360477CDKL5c.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
Xg.18613108A=CA2417977291CDKL5c.2153-44A= (n.2153-44A=)
c.2102-44A= (n.2102-44A=)
c.2021-44A= (n.2021-44A=)
n.2405-44A=
Xg.18613108A>GCA10360478CDKL5c.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
Xg.18613108_18613109insGCA2693223095CDKL5c.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
Xg.18613109A=CA2417977292CDKL5c.2153-43A= (n.2153-43A=)
c.2102-43A= (n.2102-43A=)
c.2021-43A= (n.2021-43A=)
n.2405-43A=
Xg.18613109A>GCA10360479CDKL5c.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
Xg.18613109_18613110insGCA2693223097CDKL5c.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
Xg.18613110A=CA2417977293CDKL5c.2153-42A= (n.2153-42A=)
c.2102-42A= (n.2102-42A=)
c.2021-42A= (n.2021-42A=)
n.2405-42A=
Xg.18613110A>GCA10360481CDKL5c.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
Xg.18613110A>TCA2693223099CDKL5c.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
Xg.18613113_18613114insGAAAACA2693223096CDKL5c.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
Xg.18613110_18613115delinsAAAAAGCA2417977294CDKL5c.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
Xg.18613114_18613119dupCA10360480CDKL5c.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
Xg.18613114_18613119delCA2693223098CDKL5c.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
Xg.18613110_18613111insGCA10360483CDKL5c.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
Xg.18613110_18613111insTCA2693223100CDKL5c.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
Xg.18613111A=CA2417977295CDKL5c.2153-41A= (n.2153-41A=)
c.2102-41A= (n.2102-41A=)
c.2021-41A= (n.2021-41A=)
n.2405-41A=
Xg.18613111A>GCA10360484CDKL5c.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
Xg.18613111A>TCA2693223101CDKL5c.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
Xg.18613111_18613112insGACA2579562998CDKL5c.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
Xg.18613111_18613115delinsAAAAGCA2417977296CDKL5c.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
Xg.18613116_18613120dupCA10360482CDKL5c.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
Xg.18613116_18613120delCA873671295CDKL5c.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
Xg.18613111_18613112insTCA2738434651CDKL5c.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
Xg.18613112A>GCA2693223102CDKL5c.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
Xg.18613112A>TCA2819901277CDKL5c.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
Xg.18613112_18613115delinsAAAGCA2417977297CDKL5c.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
Xg.18613115_18613118dupCA10360485CDKL5c.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
Xg.18613115_18613118delCA640513681CDKL5c.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
Xg.18613113A=CA2417977299CDKL5c.2153-39A= (n.2153-39A=)
c.2102-39A= (n.2102-39A=)
c.2021-39A= (n.2021-39A=)
n.2405-39A=
Xg.18613113A>CCA2417977300CDKL5c.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
Xg.18613113A>GCA2693223104CDKL5c.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
Xg.18613113A>TCA2693223103CDKL5c.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
Xg.18613113_18613114insGACA2819901286CDKL5c.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
Xg.18613114_18613115insAAAAAAAACAACA2819901285CDKL5c.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
Xg.18613113_18613115delinsAAGCA2417977298CDKL5c.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
Xg.18613115_18613117delCA10360486CDKL5c.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
Xg.18613113_18613114insCCA2579562999CDKL5c.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
Xg.18613114A=CA2417977302CDKL5c.2153-38A= (n.2153-38A=)
c.2102-38A= (n.2102-38A=)
c.2021-38A= (n.2021-38A=)
n.2405-38A=
Xg.18613114A>CCA640513684CDKL5c.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
Xg.18613114A>GCA2579563000CDKL5c.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
Xg.18613114A>TCA2693223105CDKL5c.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
Xg.18613114_18613115delinsAGCA2417977301CDKL5c.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
Xg.18613115_18613116delCA10360487CDKL5c.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
Xg.18613114_18613115insTCA2693223106CDKL5c.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
Xg.18613114_18613115insATCA2693223107CDKL5c.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
Xg.18613115delCA10360488CDKL5c.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
Xg.18613115G>ACA10360489CDKL5c.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
Xg.18613115G>CCA1131408912CDKL5c.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
Xg.18613115G=CA2417977303CDKL5c.2153-37G= (n.2153-37G=)
c.2102-37G= (n.2102-37G=)
c.2021-37G= (n.2021-37G=)
n.2405-37G=
Xg.18613115G>TCA1131408915CDKL5c.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
Xg.18613116A=CA2417977304CDKL5c.2153-36A= (n.2153-36A=)
c.2102-36A= (n.2102-36A=)
c.2021-36A= (n.2021-36A=)
n.2405-36A=
Xg.18613116A>GCA10360490CDKL5c.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
Xg.18613116A>TCA2693223109CDKL5c.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
Xg.18613118_18613119dupCA873671306CDKL5c.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
Xg.18613119delCA2693223108CDKL5c.2153-33del (n.2153-33del)
c.2102-33del (n.2102-33del)
c.2021-33del (n.2021-33del)
n.2405-33del
 gnomAD v4
Xg.18613116_18613117insTCA2693223110CDKL5c.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
Xg.18613117A=CA2417977305CDKL5c.2153-35A= (n.2153-35A=)
c.2102-35A= (n.2102-35A=)
c.2021-35A= (n.2021-35A=)
n.2405-35A=
Xg.18613117A>GCA640513688CDKL5c.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
Xg.18613117A>TCA2693223111CDKL5c.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
Xg.18613118A=CA2417977306CDKL5c.2153-34A= (n.2153-34A=)
c.2102-34A= (n.2102-34A=)
c.2021-34A= (n.2021-34A=)
n.2405-34A=
Xg.18613118A>CCA10360491CDKL5c.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
Xg.18613118A>GCA2693223112CDKL5c.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
Xg.18613119A>GCA2531894380CDKL5c.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
Xg.18613119A>TCA2693223115CDKL5c.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
Xg.18613119_18613120insAGACA640513689CDKL5c.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
Xg.18613119_18613120insAAGACA2693223113CDKL5c.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
Xg.18613119_18613120insAAAGACA920400320CDKL5c.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
Xg.18613119_18613121delinsAGTCA2417977307CDKL5c.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
Xg.18613119_18613122delinsAGTCCA2417977308CDKL5c.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
Xg.18613119_18613123delinsAGTCCCA2417977309CDKL5c.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
Xg.18613122_18613129dupCA2693223114CDKL5c.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
Xg.18613120delCA2693223116CDKL5c.2153-32del (n.2153-32del)
c.2102-32del (n.2102-32del)
c.2021-32del (n.2021-32del)
n.2405-32del
 gnomAD v4
Xg.18613120G>ACA10360495CDKL5c.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
Xg.18613120G>CCA640513694CDKL5c.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
Xg.18613120G=CA2417977311CDKL5c.2153-32G= (n.2153-32G=)
c.2102-32G= (n.2102-32G=)
c.2021-32G= (n.2021-32G=)
n.2405-32G=
Xg.18613120G>TCA10360494CDKL5c.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
Xg.18613120_18613121delCA10360492CDKL5c.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
Xg.18613120_18613122delCA10360493CDKL5c.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
Xg.18613120_18613123delCA920400321CDKL5c.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
Xg.18613120_18613137delinsGTCCATCAGTGACTTACTCA2417977310CDKL5c.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
Xg.18613121T>ACA10360498CDKL5c.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
Xg.18613121T>CCA10360496CDKL5c.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
Xg.18613121T>GCA10360497CDKL5c.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
Xg.18613121T=CA2417977312CDKL5c.2153-31T= (n.2153-31T=)
c.2102-31T= (n.2102-31T=)
c.2021-31T= (n.2021-31T=)
n.2405-31T=
Xg.18613121_18613137delinsCCAACAAATAAGCACAGCAACA326989700CDKL5c.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
Xg.18613121_18613122insACA2693223117CDKL5c.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
Xg.18613121_18613122insAACCCA640513698CDKL5c.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
Xg.18613122C>ACA640513697CDKL5c.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
Xg.18613122C=CA2417977313CDKL5c.2153-30C= (n.2153-30C=)
c.2102-30C= (n.2102-30C=)
c.2021-30C= (n.2021-30C=)
n.2405-30C=
Xg.18613122C>TCA640513699CDKL5c.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
Xg.18613123delCA2560390632CDKL5c.2153-29del (n.2153-29del)
c.2102-29del (n.2102-29del)
c.2021-29del (n.2021-29del)
n.2405-29del
Xg.18613123C>ACA640513700CDKL5c.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
Xg.18613123C=CA2417977314CDKL5c.2153-29C= (n.2153-29C=)
c.2102-29C= (n.2102-29C=)
c.2021-29C= (n.2021-29C=)
n.2405-29C=
Xg.18613123C>GCA2579563001CDKL5c.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
Xg.18613123C>TCA2693223118CDKL5c.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
Xg.18613124A=CA2417977315CDKL5c.2153-28A= (n.2153-28A=)
c.2102-28A= (n.2102-28A=)
c.2021-28A= (n.2021-28A=)
n.2405-28A=
Xg.18613124A>CCA2693223119CDKL5c.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
Xg.18613124A>GCA640513701CDKL5c.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
Xg.18613125T>ACA640513702CDKL5c.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
Xg.18613125T>CCA2693223120CDKL5c.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
Xg.18613125T>GCA2693223121CDKL5c.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
Xg.18613125T=CA2417977316CDKL5c.2153-27T= (n.2153-27T=)
c.2102-27T= (n.2102-27T=)
c.2021-27T= (n.2021-27T=)
n.2405-27T=
Xg.18613126delCA2693223122CDKL5c.2153-26del (n.2153-26del)
c.2102-26del (n.2102-26del)
c.2021-26del (n.2021-26del)
n.2405-26del
 gnomAD v4
Xg.18613126C>ACA2693223123CDKL5c.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
Xg.18613126C>GCA2819901321CDKL5c.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
Xg.18613127A>CCA2693223124CDKL5c.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
Xg.18613127A>GCA2693223125CDKL5c.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
Xg.18613128G>ACA10360499CDKL5c.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
Xg.18613128G=CA2417977317CDKL5c.2153-24G= (n.2153-24G=)
c.2102-24G= (n.2102-24G=)
c.2021-24G= (n.2021-24G=)
n.2405-24G=
Xg.18613128G>TCA2693223126CDKL5c.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
Xg.18613129T>GCA10360500CDKL5c.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
Xg.18613129T=CA2417977318CDKL5c.2153-23T= (n.2153-23T=)
c.2102-23T= (n.2102-23T=)
c.2021-23T= (n.2021-23T=)
n.2405-23T=
Xg.18613130G>ACA2693223127CDKL5c.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
Xg.18613130G>TCA2693223128CDKL5c.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
Xg.18613131A=CA2417977319CDKL5c.2153-21A= (n.2153-21A=)
c.2102-21A= (n.2102-21A=)
c.2021-21A= (n.2021-21A=)
n.2405-21A=
Xg.18613131A>CCA2693223129CDKL5c.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
Xg.18613131A>GCA2693223130CDKL5c.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
Xg.18613131A>TCA2417977320CDKL5c.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
Xg.18613132C>ACA2693223131CDKL5c.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
Xg.18613132C=CA2417977321CDKL5c.2153-20C= (n.2153-20C=)
c.2102-20C= (n.2102-20C=)
c.2021-20C= (n.2021-20C=)
n.2405-20C=
Xg.18613132C>GCA2693223132CDKL5c.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
Xg.18613132C>TCA873671350CDKL5c.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
Xg.18613133T>ACA2693223134CDKL5c.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
Xg.18613133T>CCA2693223135CDKL5c.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
Xg.18613135_18613140dupCA2693223133CDKL5c.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
Xg.18613134T>ACA2693223136CDKL5c.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
Xg.18613134T>GCA10360501CDKL5c.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
Xg.18613134T=CA2417977322CDKL5c.2153-18T= (n.2153-18T=)
c.2102-18T= (n.2102-18T=)
c.2021-18T= (n.2021-18T=)
n.2405-18T=
Xg.18613135A=CA2417977323CDKL5c.2153-17A= (n.2153-17A=)
c.2102-17A= (n.2102-17A=)
c.2021-17A= (n.2021-17A=)
n.2405-17A=
Xg.18613135A>TCA2693223137CDKL5c.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
Xg.18613135_18613136insTTTTTCA10360502CDKL5c.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
Xg.18613136delCA2693223138CDKL5c.2153-16del (n.2153-16del)
c.2102-16del (n.2102-16del)
c.2021-16del (n.2021-16del)
n.2405-16del
 gnomAD v4
Xg.18613136C>ACA2542083377CDKL5c.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
Xg.18613136C=CA2417977324CDKL5c.2153-16C= (n.2153-16C=)
c.2102-16C= (n.2102-16C=)
c.2021-16C= (n.2021-16C=)
n.2405-16C=
Xg.18613136C>GCA2693223139CDKL5c.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
Xg.18613136C>TCA10360503CDKL5c.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
Xg.18613137T>CCA2693223141CDKL5c.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
Xg.18613138_18613141dupCA2819901340CDKL5c.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
Xg.18613141delCA2693223140CDKL5c.2153-11del (n.2153-11del)
c.2102-11del (n.2102-11del)
c.2021-11del (n.2021-11del)
n.2405-11del
 gnomAD v4
Xg.18613142C>ACA2693223142CDKL5c.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
Xg.18613142C=CA2417977325CDKL5c.2153-10C= (n.2153-10C=)
c.2102-10C= (n.2102-10C=)
c.2021-10C= (n.2021-10C=)
n.2405-10C=
Xg.18613142C>GCA2693223143CDKL5c.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
Xg.18613142C>TCA10360504CDKL5c.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
Xg.18613143T>ACA2693223144CDKL5c.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
Xg.18613143T>CCA2693223145CDKL5c.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
Xg.18613145T>CCA2693223146CDKL5c.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
Xg.18613146A=CA2417977326CDKL5c.2153-6A= (n.2153-6A=)
c.2102-6A= (n.2102-6A=)
c.2021-6A= (n.2021-6A=)
n.2405-6A=
Xg.18613146A>TCA10360505CDKL5c.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
Xg.18613149C>ACA2693223147CDKL5c.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
Xg.18613149C>TCA1131408936CDKL5c.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
Xg.18613150A=CA2417977327CDKL5c.2153-2A= (n.2153-2A=)
c.2102-2A= (n.2102-2A=)
c.2021-2A= (n.2021-2A=)
n.2405-2A=
Xg.18613150A>CCA412367770CDKL5c.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
Xg.18613150A>GCA412367768CDKL5c.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
Xg.18613150A>TCA412367769CDKL5c.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
Xg.18613151G>ACA412367771CDKL5c.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
Xg.18613151G>CCA412367773CDKL5c.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
Xg.18613151G>TCA412367775CDKL5c.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
Xg.18613152_18613153dupCA2695231347CDKL5c.2153_2154dup
c.2102_2103dup
c.2021_2022dup
n.2405_2406dup
Xg.18613152T>ACA412367780CDKL5c.2153T>A (p.Val718Glu)
c.2102T>A (p.Val701Glu)
c.2021T>A (p.Val674Glu)
n.2405T>A
Xg.18613152T>CCA412367782CDKL5c.2153T>C (p.Val718Ala)
c.2102T>C (p.Val701Ala)
c.2021T>C (p.Val674Ala)
n.2405T>C
Xg.18613152T>GCA412367785CDKL5c.2153T>G (p.Val718Gly)
c.2102T>G (p.Val701Gly)
c.2021T>G (p.Val674Gly)
n.2405T>G
Xg.18613152_18613153delinsCTCA2695231348CDKL5c.2153_2154delinsCT (p.Val718Ala)
c.2102_2103delinsCT (p.Val701Ala)
c.2021_2022delinsCT (p.Val674Ala)
n.2405_2406delinsCT
Xg.18613153G>ACA515473155CDKL5c.2154G>A (p.Val718=)
c.2103G>A (p.Val701=)
c.2022G>A (p.Val674=)
n.2406G>A
 gnomAD v4
Xg.18613153G>CCA515473156CDKL5c.2154G>C (p.Val718=)
c.2103G>C (p.Val701=)
c.2022G>C (p.Val674=)
n.2406G>C
Xg.18613153G>TCA515473158CDKL5c.2154G>T (p.Val718=)
c.2103G>T (p.Val701=)
c.2022G>T (p.Val674=)
n.2406G>T
 COSMIC
Xg.18613153_18613154insGTCA2695231349CDKL5c.2154_2155insGT (p.Pro719ValfsTer?)
c.2103_2104insGT (p.Pro702ValfsTer?)
c.2022_2023insGT (p.Pro675ValfsTer?)
n.2406_2407insGT
Xg.18613154C>ACA412367789CDKL5c.2155C>A (p.Pro719Thr)
c.2104C>A (p.Pro702Thr)
c.2023C>A (p.Pro675Thr)
n.2407C>A
 gnomAD v4
Xg.18613154C>GCA412367790CDKL5c.2155C>G (p.Pro719Ala)
c.2104C>G (p.Pro702Ala)
c.2023C>G (p.Pro675Ala)
n.2407C>G
Xg.18613154C>TCA412367794CDKL5c.2155C>T (p.Pro719Ser)
c.2104C>T (p.Pro702Ser)
c.2023C>T (p.Pro675Ser)
n.2407C>T
 gnomAD v4
Xg.18613155C>ACA412367796CDKL5c.2156C>A (p.Pro719Gln)
c.2105C>A (p.Pro702Gln)
c.2024C>A (p.Pro675Gln)
n.2408C>A
 gnomAD v4
Xg.18613155C>GCA412367800CDKL5c.2156C>G (p.Pro719Arg)
c.2105C>G (p.Pro702Arg)
c.2024C>G (p.Pro675Arg)
n.2408C>G
Xg.18613155C>TCA412367802CDKL5c.2156C>T (p.Pro719Leu)
c.2105C>T (p.Pro702Leu)
c.2024C>T (p.Pro675Leu)
n.2408C>T
Xg.18613156A=CA2417977328CDKL5c.2157A= (p.Pro719=)
c.2106A= (p.Pro702=)
c.2025A= (p.Pro675=)
n.2409A=
Xg.18613156A>CCA515473162CDKL5c.2157A>C (p.Pro719=)
c.2106A>C (p.Pro702=)
c.2025A>C (p.Pro675=)
n.2409A>C
Xg.18613156A>GCA10360507CDKL5c.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
Xg.18613156A>TCA10360506CDKL5c.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
Xg.18613157T>ACA412367810CDKL5c.2158T>A (p.Ser720Thr)
c.2107T>A (p.Ser703Thr)
c.2026T>A (p.Ser676Thr)
n.2410T>A
Xg.18613157T>CCA412367817CDKL5c.2158T>C (p.Ser720Pro)
c.2107T>C (p.Ser703Pro)
c.2026T>C (p.Ser676Pro)
n.2410T>C
Xg.18613157T>GCA412367812CDKL5c.2158T>G (p.Ser720Ala)
c.2107T>G (p.Ser703Ala)
c.2026T>G (p.Ser676Ala)
n.2410T>G
Xg.18613158C>ACA412367821CDKL5c.2159C>A (p.Ser720Tyr)
c.2108C>A (p.Ser703Tyr)
c.2027C>A (p.Ser676Tyr)
n.2411C>A
 gnomAD v4
Xg.18613158C>GCA412367824CDKL5c.2159C>G (p.Ser720Cys)
c.2108C>G (p.Ser703Cys)
c.2027C>G (p.Ser676Cys)
n.2411C>G
Xg.18613158C>TCA412367831CDKL5c.2159C>T (p.Ser720Phe)
c.2108C>T (p.Ser703Phe)
c.2027C>T (p.Ser676Phe)
n.2411C>T
Xg.18613159T>ACA515473166CDKL5c.2160T>A (p.Ser720=)
c.2109T>A (p.Ser703=)
c.2028T>A (p.Ser676=)
n.2412T>A
 gnomAD v4
Xg.18613159T>CCA515473167CDKL5c.2160T>C (p.Ser720=)
c.2109T>C (p.Ser703=)
c.2028T>C (p.Ser676=)
n.2412T>C
Xg.18613159T>GCA515473168CDKL5c.2160T>G (p.Ser720=)
c.2109T>G (p.Ser703=)
c.2028T>G (p.Ser676=)
n.2412T>G
Xg.18613160C>ACA412367833CDKL5c.2161C>A (p.Pro721Thr)
c.2110C>A (p.Pro704Thr)
c.2029C>A (p.Pro677Thr)
n.2413C>A
 gnomAD v4
Xg.18613160C>GCA412367835CDKL5c.2161C>G (p.Pro721Ala)
c.2110C>G (p.Pro704Ala)
c.2029C>G (p.Pro677Ala)
n.2413C>G
Xg.18613160C>TCA412367839CDKL5c.2161C>T (p.Pro721Ser)
c.2110C>T (p.Pro704Ser)
c.2029C>T (p.Pro677Ser)
n.2413C>T
 dbSNP
Xg.18613161C>ACA412367843CDKL5c.2162C>A (p.Pro721Gln)
c.2111C>A (p.Pro704Gln)
c.2030C>A (p.Pro677Gln)
n.2414C>A
 gnomAD v4
Xg.18613161C>GCA412367845CDKL5c.2162C>G (p.Pro721Arg)
c.2111C>G (p.Pro704Arg)
c.2030C>G (p.Pro677Arg)
n.2414C>G
Xg.18613161C>TCA412367848CDKL5c.2162C>T (p.Pro721Leu)
c.2111C>T (p.Pro704Leu)
c.2030C>T (p.Pro677Leu)
n.2414C>T
 COSMIC
Xg.18613162A>CCA515473174CDKL5c.2163A>C (p.Pro721=)
c.2112A>C (p.Pro704=)
c.2031A>C (p.Pro677=)
n.2415A>C
Xg.18613162A>GCA515473172CDKL5c.2163A>G (p.Pro721=)
c.2112A>G (p.Pro704=)
c.2031A>G (p.Pro677=)
n.2415A>G
 gnomAD v4
Xg.18613162A>TCA515473173CDKL5c.2163A>T (p.Pro721=)
c.2112A>T (p.Pro704=)
c.2031A>T (p.Pro677=)
n.2415A>T
Xg.18613163C>ACA412367851CDKL5c.2164C>A (p.Arg722Ser)
c.2113C>A (p.Arg705Ser)
c.2032C>A (p.Arg678Ser)
n.2416C>A
Xg.18613163C=CA2417977329CDKL5c.2164C= (p.Arg722=)
c.2113C= (p.Arg705=)
c.2032C= (p.Arg678=)
n.2416C=
Xg.18613163C>GCA412367855CDKL5c.2164C>G (p.Arg722Gly)
c.2113C>G (p.Arg705Gly)
c.2032C>G (p.Arg678Gly)
n.2416C>G
Xg.18613163C>TCA10360508CDKL5c.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
Xg.18613164G>ACA412367868CDKL5c.2165G>A (p.Arg722His)
c.2114G>A (p.Arg705His)
c.2033G>A (p.Arg678His)
n.2417G>A
 ClinVar dbSNP gnomAD v4
Xg.18613164G>CCA412367862CDKL5c.2165G>C (p.Arg722Pro)
c.2114G>C (p.Arg705Pro)
c.2033G>C (p.Arg678Pro)
n.2417G>C
Xg.18613164G>TCA412367865CDKL5c.2165G>T (p.Arg722Leu)
c.2114G>T (p.Arg705Leu)
c.2033G>T (p.Arg678Leu)
n.2417G>T
Xg.18613165T>ACA515473180CDKL5c.2166T>A (p.Arg722=)
c.2115T>A (p.Arg705=)
c.2034T>A (p.Arg678=)
n.2418T>A
Xg.18613165T>CCA515473181CDKL5c.2166T>C (p.Arg722=)
c.2115T>C (p.Arg705=)
c.2034T>C (p.Arg678=)
n.2418T>C
Xg.18613165T>GCA515473183CDKL5c.2166T>G (p.Arg722=)
c.2115T>G (p.Arg705=)
c.2034T>G (p.Arg678=)
n.2418T>G
Xg.18613166C>ACA412367872CDKL5c.2167C>A (p.Pro723Thr)
c.2116C>A (p.Pro706Thr)
c.2035C>A (p.Pro679Thr)
n.2419C>A
Xg.18613166C>GCA412367874CDKL5c.2167C>G (p.Pro723Ala)
c.2116C>G (p.Pro706Ala)
c.2035C>G (p.Pro679Ala)
n.2419C>G
Xg.18613166C>TCA412367879CDKL5c.2167C>T (p.Pro723Ser)
c.2116C>T (p.Pro706Ser)
c.2035C>T (p.Pro679Ser)
n.2419C>T
 ClinVar dbSNP
Xg.18613167C>ACA412367881CDKL5c.2168C>A (p.Pro723Gln)
c.2117C>A (p.Pro706Gln)
c.2036C>A (p.Pro679Gln)
n.2420C>A
 gnomAD v4
Xg.18613167C>GCA412367884CDKL5c.2168C>G (p.Pro723Arg)
c.2117C>G (p.Pro706Arg)
c.2036C>G (p.Pro679Arg)
n.2420C>G
Xg.18613167C>TCA412367885CDKL5c.2168C>T (p.Pro723Leu)
c.2117C>T (p.Pro706Leu)
c.2036C>T (p.Pro679Leu)
n.2420C>T
Xg.18613168A>CCA515473191CDKL5c.2169A>C (p.Pro723=)
c.2118A>C (p.Pro706=)
c.2037A>C (p.Pro679=)
n.2421A>C
Xg.18613168A>GCA515473189CDKL5c.2169A>G (p.Pro723=)
c.2118A>G (p.Pro706=)
c.2037A>G (p.Pro679=)
n.2421A>G
 gnomAD v4
Xg.18613168A>TCA515473190CDKL5c.2169A>T (p.Pro723=)
c.2118A>T (p.Pro706=)
c.2037A>T (p.Pro679=)
n.2421A>T
Xg.18613169G>ACA412367887CDKL5c.2170G>A (p.Asp724Asn)
c.2119G>A (p.Asp707Asn)
c.2038G>A (p.Asp680Asn)
n.2422G>A
Xg.18613169G>CCA412367891CDKL5c.2170G>C (p.Asp724His)
c.2119G>C (p.Asp707His)
c.2038G>C (p.Asp680His)
n.2422G>C
Xg.18613169G>TCA412367894CDKL5c.2170G>T (p.Asp724Tyr)
c.2119G>T (p.Asp707Tyr)
c.2038G>T (p.Asp680Tyr)
n.2422G>T
Xg.18613170A=CA2417977330CDKL5c.2171A= (p.Asp724=)
c.2120A= (p.Asp707=)
c.2039A= (p.Asp680=)
n.2423A=
Xg.18613170A>CCA412367896CDKL5c.2171A>C (p.Asp724Ala)
c.2120A>C (p.Asp707Ala)
c.2039A>C (p.Asp680Ala)
n.2423A>C
Xg.18613170A>GCA412367899CDKL5c.2171A>G (p.Asp724Gly)
c.2120A>G (p.Asp707Gly)
c.2039A>G (p.Asp680Gly)
n.2423A>G
 ClinVar
Xg.18613170A>TCA412367902CDKL5c.2171A>T (p.Asp724Val)
c.2120A>T (p.Asp707Val)
c.2039A>T (p.Asp680Val)
n.2423A>T
 ClinVar dbSNP
Xg.18613171C>ACA412367905CDKL5c.2172C>A (p.Asp724Glu)
c.2121C>A (p.Asp707Glu)
c.2040C>A (p.Asp680Glu)
n.2424C>A
 gnomAD v4
Xg.18613171C>GCA412367908CDKL5c.2172C>G (p.Asp724Glu)
c.2121C>G (p.Asp707Glu)
c.2040C>G (p.Asp680Glu)
n.2424C>G
Xg.18613171C>TCA515473194CDKL5c.2172C>T (p.Asp724=)
c.2121C>T (p.Asp707=)
c.2040C>T (p.Asp680=)
n.2424C>T
Xg.18613172A>CCA412367914CDKL5c.2173A>C (p.Asn725His)
c.2122A>C (p.Asn708His)
c.2041A>C (p.Asn681His)
n.2425A>C
 gnomAD v4
Xg.18613172A>GCA412367917CDKL5c.2173A>G (p.Asn725Asp)
c.2122A>G (p.Asn708Asp)
c.2041A>G (p.Asn681Asp)
n.2425A>G
Xg.18613172A>TCA412367928CDKL5c.2173A>T (p.Asn725Tyr)
c.2122A>T (p.Asn708Tyr)
c.2041A>T (p.Asn681Tyr)
n.2425A>T
Xg.18613173A>CCA412367931CDKL5c.2174A>C (p.Asn725Thr)
c.2123A>C (p.Asn708Thr)
c.2042A>C (p.Asn681Thr)
n.2426A>C
Xg.18613173A>GCA412367944CDKL5c.2174A>G (p.Asn725Ser)
c.2123A>G (p.Asn708Ser)
c.2042A>G (p.Asn681Ser)
n.2426A>G
Xg.18613173A>TCA412367946CDKL5c.2174A>T (p.Asn725Ile)
c.2123A>T (p.Asn708Ile)
c.2042A>T (p.Asn681Ile)
n.2426A>T
Xg.18613174T>ACA412367954CDKL5c.2175T>A (p.Asn725Lys)
c.2124T>A (p.Asn708Lys)
c.2043T>A (p.Asn681Lys)
n.2427T>A
Xg.18613174T>CCA515473197CDKL5c.2175T>C (p.Asn725=)
c.2124T>C (p.Asn708=)
c.2043T>C (p.Asn681=)
n.2427T>C
Xg.18613174T>GCA412367951CDKL5c.2175T>G (p.Asn725Lys)
c.2124T>G (p.Asn708Lys)
c.2043T>G (p.Asn681Lys)
n.2427T>G
Xg.18613175T>ACA412367957CDKL5c.2176T>A (p.Ser726Thr)
c.2125T>A (p.Ser709Thr)
c.2044T>A (p.Ser682Thr)
n.2428T>A
Xg.18613175T>CCA412367959CDKL5c.2176T>C (p.Ser726Pro)
c.2125T>C (p.Ser709Pro)
c.2044T>C (p.Ser682Pro)
n.2428T>C
Xg.18613175T>GCA412367961CDKL5c.2176T>G (p.Ser726Ala)
c.2125T>G (p.Ser709Ala)
c.2044T>G (p.Ser682Ala)
n.2428T>G
Xg.18613176C>ACA412367964CDKL5c.2177C>A (p.Ser726Tyr)
c.2126C>A (p.Ser709Tyr)
c.2045C>A (p.Ser682Tyr)
n.2429C>A
 gnomAD v4
Xg.18613176C>GCA412367967CDKL5c.2177C>G (p.Ser726Cys)
c.2126C>G (p.Ser709Cys)
c.2045C>G (p.Ser682Cys)
n.2429C>G
Xg.18613176C>TCA412367970CDKL5c.2177C>T (p.Ser726Phe)
c.2126C>T (p.Ser709Phe)
c.2045C>T (p.Ser682Phe)
n.2429C>T
Xg.18613177_18613181delCA658794141CDKL5c.2178_2182del (p.Phe727Ter)
c.2127_2131del (p.Phe710Ter)
c.2046_2050del (p.Phe683Ter)
n.2430_2434del
Xg.18613176_18613185delinsAATGTGTCAACCA2695231350CDKL5c.2177_2186delinsAATGTGTCAAC (p.Ser726Ter)
c.2126_2135delinsAATGTGTCAAC (p.Ser709Ter)
c.2045_2054delinsAATGTGTCAAC (p.Ser682Ter)
n.2429_2438delinsAATGTGTCAAC
Xg.18613177T>ACA515473202CDKL5c.2178T>A (p.Ser726=)
c.2127T>A (p.Ser709=)
c.2046T>A (p.Ser682=)
n.2430T>A
Xg.18613177T>CCA515473203CDKL5c.2178T>C (p.Ser726=)
c.2127T>C (p.Ser709=)
c.2046T>C (p.Ser682=)
n.2430T>C
Xg.18613177T>GCA515473204CDKL5c.2178T>G (p.Ser726=)
c.2127T>G (p.Ser709=)
c.2046T>G (p.Ser682=)
n.2430T>G
Xg.18613178T>ACA412367976CDKL5c.2179T>A (p.Phe727Ile)
c.2128T>A (p.Phe710Ile)
c.2047T>A (p.Phe683Ile)
n.2431T>A
Xg.18613178T>CCA412367980CDKL5c.2179T>C (p.Phe727Leu)
c.2128T>C (p.Phe710Leu)
c.2047T>C (p.Phe683Leu)
n.2431T>C
Xg.18613178T>GCA412367978CDKL5c.2179T>G (p.Phe727Val)
c.2128T>G (p.Phe710Val)
c.2047T>G (p.Phe683Val)
n.2431T>G
Xg.18613179T>ACA412367982CDKL5c.2180T>A (p.Phe727Tyr)
c.2129T>A (p.Phe710Tyr)
c.2048T>A (p.Phe683Tyr)
n.2432T>A
Xg.18613179T>CCA412367984CDKL5c.2180T>C (p.Phe727Ser)
c.2129T>C (p.Phe710Ser)
c.2048T>C (p.Phe683Ser)
n.2432T>C
 gnomAD v4
Xg.18613179T>GCA412367989CDKL5c.2180T>G (p.Phe727Cys)
c.2129T>G (p.Phe710Cys)
c.2048T>G (p.Phe683Cys)
n.2432T>G
Xg.18613179_18613180delinsTCCA2417977331CDKL5c.2180_2181delinsTC (p.Phe727=)
c.2129_2130delinsTC (p.Phe710=)
c.2048_2049delinsTC (p.Phe683=)
n.2432_2433delinsTC
Xg.18613180C>ACA412367990CDKL5c.2181C>A (p.Phe727Leu)
c.2130C>A (p.Phe710Leu)
c.2049C>A (p.Phe683Leu)
n.2433C>A
Xg.18613180C>GCA412367991CDKL5c.2181C>G (p.Phe727Leu)
c.2130C>G (p.Phe710Leu)
c.2049C>G (p.Phe683Leu)
n.2433C>G
Xg.18613180C>TCA515473208CDKL5c.2181C>T (p.Phe727=)
c.2130C>T (p.Phe710=)
c.2049C>T (p.Phe683=)
n.2433C>T
Xg.18613181delCA916083846CDKL5c.2182del (p.His728MetfsTer?)
c.2131del (p.His711MetfsTer?)
c.2050del (p.His684MetfsTer?)
n.2434del
 ClinVar dbSNP
Xg.18613181C>ACA412367992CDKL5c.2182C>A (p.His728Asn)
c.2131C>A (p.His711Asn)
c.2050C>A (p.His684Asn)
n.2434C>A
Xg.18613181C>GCA412367993CDKL5c.2182C>G (p.His728Asp)
c.2131C>G (p.His711Asp)
c.2050C>G (p.His684Asp)
n.2434C>G
Xg.18613181C>TCA412367995CDKL5c.2182C>T (p.His728Tyr)
c.2131C>T (p.His711Tyr)
c.2050C>T (p.His684Tyr)
n.2434C>T
 gnomAD v4
Xg.18613182A=CA2417977332CDKL5c.2183A= (p.His728=)
c.2132A= (p.His711=)
c.2051A= (p.His684=)
n.2435A=
Xg.18613182A>CCA412367997CDKL5c.2183A>C (p.His728Pro)
c.2132A>C (p.His711Pro)
c.2051A>C (p.His684Pro)
n.2435A>C
Xg.18613182A>GCA412368002CDKL5c.2183A>G (p.His728Arg)
c.2132A>G (p.His711Arg)
c.2051A>G (p.His684Arg)
n.2435A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18613182A>TCA412368004CDKL5c.2183A>T (p.His728Leu)
c.2132A>T (p.His711Leu)
c.2051A>T (p.His684Leu)
n.2435A>T
Xg.18613183T>ACA412368007CDKL5c.2184T>A (p.His728Gln)
c.2133T>A (p.His711Gln)
c.2052T>A (p.His684Gln)
n.2436T>A
Xg.18613183T>CCA515473211CDKL5c.2184T>C (p.His728=)
c.2133T>C (p.His711=)
c.2052T>C (p.His684=)
n.2436T>C
Xg.18613183T>GCA412368009CDKL5c.2184T>G (p.His728Gln)
c.2133T>G (p.His711Gln)
c.2052T>G (p.His684Gln)
n.2436T>G
Xg.18613184G>ACA412368010CDKL5c.2185G>A (p.Glu729Lys)
c.2134G>A (p.Glu712Lys)
c.2053G>A (p.Glu685Lys)
n.2437G>A
Xg.18613184G>CCA412368012CDKL5c.2185G>C (p.Glu729Gln)
c.2134G>C (p.Glu712Gln)
c.2053G>C (p.Glu685Gln)
n.2437G>C
Xg.18613184G>TCA412368015CDKL5c.2185G>T (p.Glu729Ter)
c.2134G>T (p.Glu712Ter)
c.2053G>T (p.Glu685Ter)
n.2437G>T
 gnomAD v4
Xg.18613185A>CCA412368018CDKL5c.2186A>C (p.Glu729Ala)
c.2135A>C (p.Glu712Ala)
c.2054A>C (p.Glu685Ala)
n.2438A>C
Xg.18613185A>GCA412368021CDKL5c.2186A>G (p.Glu729Gly)
c.2135A>G (p.Glu712Gly)
c.2054A>G (p.Glu685Gly)
n.2438A>G
Xg.18613185A>TCA412368023CDKL5c.2186A>T (p.Glu729Val)
c.2135A>T (p.Glu712Val)
c.2054A>T (p.Glu685Val)
n.2438A>T
Xg.18613186A>CCA412368025CDKL5c.2187A>C (p.Glu729Asp)
c.2136A>C (p.Glu712Asp)
c.2055A>C (p.Glu685Asp)
n.2439A>C
Xg.18613186A>GCA515473216CDKL5c.2187A>G (p.Glu729=)
c.2136A>G (p.Glu712=)
c.2055A>G (p.Glu685=)
n.2439A>G
Xg.18613186A>TCA412368028CDKL5c.2187A>T (p.Glu729Asp)
c.2136A>T (p.Glu712Asp)
c.2055A>T (p.Glu685Asp)
n.2439A>T
Xg.18613187A>CCA412368030CDKL5c.2188A>C (p.Asn730His)
c.2137A>C (p.Asn713His)
c.2056A>C (p.Asn686His)
n.2440A>C
Xg.18613187A>GCA412368032CDKL5c.2188A>G (p.Asn730Asp)
c.2137A>G (p.Asn713Asp)
c.2056A>G (p.Asn686Asp)
n.2440A>G
Xg.18613187A>TCA412368033CDKL5c.2188A>T (p.Asn730Tyr)
c.2137A>T (p.Asn713Tyr)
c.2056A>T (p.Asn686Tyr)
n.2440A>T

Number of alleles fetched