Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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
Xg.18613188A>CCA412368037CDKL5c.2189A>C (p.Asn730Thr)
c.2138A>C (p.Asn713Thr)
c.2057A>C (p.Asn686Thr)
n.2441A>C
Xg.18613188A>GCA412368038CDKL5c.2189A>G (p.Asn730Ser)
c.2138A>G (p.Asn713Ser)
c.2057A>G (p.Asn686Ser)
n.2441A>G
Xg.18613188A>TCA412368041CDKL5c.2189A>T (p.Asn730Ile)
c.2138A>T (p.Asn713Ile)
c.2057A>T (p.Asn686Ile)
n.2441A>T
Xg.18613189T>ACA412368047CDKL5c.2190T>A (p.Asn730Lys)
c.2139T>A (p.Asn713Lys)
c.2058T>A (p.Asn686Lys)
n.2442T>A
Xg.18613189T>CCA515473218CDKL5c.2190T>C (p.Asn730=)
c.2139T>C (p.Asn713=)
c.2058T>C (p.Asn686=)
n.2442T>C
 gnomAD v4
Xg.18613189T>GCA412368044CDKL5c.2190T>G (p.Asn730Lys)
c.2139T>G (p.Asn713Lys)
c.2058T>G (p.Asn686Lys)
n.2442T>G
Xg.18613190A>CCA412368050CDKL5c.2191A>C (p.Asn731His)
c.2140A>C (p.Asn714His)
c.2059A>C (p.Asn687His)
n.2443A>C
Xg.18613190A>GCA412368052CDKL5c.2191A>G (p.Asn731Asp)
c.2140A>G (p.Asn714Asp)
c.2059A>G (p.Asn687Asp)
n.2443A>G
Xg.18613190A>TCA412368053CDKL5c.2191A>T (p.Asn731Tyr)
c.2140A>T (p.Asn714Tyr)
c.2059A>T (p.Asn687Tyr)
n.2443A>T
Xg.18613191A=CA2417977333CDKL5c.2192A= (p.Asn731=)
c.2141A= (p.Asn714=)
c.2060A= (p.Asn687=)
n.2444A=
Xg.18613191A>CCA412368055CDKL5c.2192A>C (p.Asn731Thr)
c.2141A>C (p.Asn714Thr)
c.2060A>C (p.Asn687Thr)
n.2444A>C
Xg.18613191A>GCA412368062CDKL5c.2192A>G (p.Asn731Ser)
c.2141A>G (p.Asn714Ser)
c.2060A>G (p.Asn687Ser)
n.2444A>G
 dbSNP gnomAD v4
Xg.18613191A>TCA412368066CDKL5c.2192A>T (p.Asn731Ile)
c.2141A>T (p.Asn714Ile)
c.2060A>T (p.Asn687Ile)
n.2444A>T
Xg.18613192T>ACA412368074CDKL5c.2193T>A (p.Asn731Lys)
c.2142T>A (p.Asn714Lys)
c.2061T>A (p.Asn687Lys)
n.2445T>A
Xg.18613192T>CCA515473223CDKL5c.2193T>C (p.Asn731=)
c.2142T>C (p.Asn714=)
c.2061T>C (p.Asn687=)
n.2445T>C
 ClinVar dbSNP gnomAD v4
Xg.18613192T>GCA412368068CDKL5c.2193T>G (p.Asn731Lys)
c.2142T>G (p.Asn714Lys)
c.2061T>G (p.Asn687Lys)
n.2445T>G
Xg.18613192T=CA2417977334CDKL5c.2193T= (p.Asn731=)
c.2142T= (p.Asn714=)
c.2061T= (p.Asn687=)
n.2445T=
Xg.18613193G>ACA326989717CDKL5c.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
Xg.18613193G>CCA412368080CDKL5c.2194G>C (p.Val732Leu)
c.2143G>C (p.Val715Leu)
c.2062G>C (p.Val688Leu)
n.2446G>C
Xg.18613193G=CA2417977335CDKL5c.2194G= (p.Val732=)
c.2143G= (p.Val715=)
c.2062G= (p.Val688=)
n.2446G=
Xg.18613193G>TCA412368082CDKL5c.2194G>T (p.Val732Leu)
c.2143G>T (p.Val715Leu)
c.2062G>T (p.Val688Leu)
n.2446G>T
Xg.18613194T>ACA412368086CDKL5c.2195T>A (p.Val732Glu)
c.2144T>A (p.Val715Glu)
c.2063T>A (p.Val688Glu)
n.2447T>A
 ClinVar dbSNP
Xg.18613194T>CCA412368089CDKL5c.2195T>C (p.Val732Ala)
c.2144T>C (p.Val715Ala)
c.2063T>C (p.Val688Ala)
n.2447T>C
Xg.18613194T>GCA412368092CDKL5c.2195T>G (p.Val732Gly)
c.2144T>G (p.Val715Gly)
c.2063T>G (p.Val688Gly)
n.2447T>G
Xg.18613194T=CA2417977336CDKL5c.2195T= (p.Val732=)
c.2144T= (p.Val715=)
c.2063T= (p.Val688=)
n.2447T=
Xg.18613195G>ACA515473225CDKL5c.2196G>A (p.Val732=)
c.2145G>A (p.Val715=)
c.2064G>A (p.Val688=)
n.2448G>A
Xg.18613195G>CCA515473226CDKL5c.2196G>C (p.Val732=)
c.2145G>C (p.Val715=)
c.2064G>C (p.Val688=)
n.2448G>C
Xg.18613195G=CA2417977337CDKL5c.2196G= (p.Val732=)
c.2145G= (p.Val715=)
c.2064G= (p.Val688=)
n.2448G=
Xg.18613195G>TCA515473228CDKL5c.2196G>T (p.Val732=)
c.2145G>T (p.Val715=)
c.2064G>T (p.Val688=)
n.2448G>T
 dbSNP
Xg.18613196_18613203dupCA916083847CDKL5c.2197_2204dup (p.Arg735SerfsTer?)
c.2146_2153dup (p.Arg718SerfsTer?)
c.2065_2072dup (p.Arg691SerfsTer?)
n.2449_2456dup
 ClinVar dbSNP
Xg.18613196T>ACA412368102CDKL5c.2197T>A (p.Ser733Thr)
c.2146T>A (p.Ser716Thr)
c.2065T>A (p.Ser689Thr)
n.2449T>A
Xg.18613196T>CCA412368096CDKL5c.2197T>C (p.Ser733Pro)
c.2146T>C (p.Ser716Pro)
c.2065T>C (p.Ser689Pro)
n.2449T>C
Xg.18613196T>GCA412368099CDKL5c.2197T>G (p.Ser733Ala)
c.2146T>G (p.Ser716Ala)
c.2065T>G (p.Ser689Ala)
n.2449T>G
Xg.18613197C>ACA412368106CDKL5c.2198C>A (p.Ser733Ter)
c.2147C>A (p.Ser716Ter)
c.2066C>A (p.Ser689Ter)
n.2450C>A
 gnomAD v4
Xg.18613197C>GCA412368108CDKL5c.2198C>G (p.Ser733Ter)
c.2147C>G (p.Ser716Ter)
c.2066C>G (p.Ser689Ter)
n.2450C>G
Xg.18613197C>TCA412368111CDKL5c.2198C>T (p.Ser733Leu)
c.2147C>T (p.Ser716Leu)
c.2066C>T (p.Ser689Leu)
n.2450C>T
Xg.18613198A>CCA515473230CDKL5c.2199A>C (p.Ser733=)
c.2148A>C (p.Ser716=)
c.2067A>C (p.Ser689=)
n.2451A>C
Xg.18613198A>GCA515473231CDKL5c.2199A>G (p.Ser733=)
c.2148A>G (p.Ser716=)
c.2067A>G (p.Ser689=)
n.2451A>G
Xg.18613198A>TCA515473234CDKL5c.2199A>T (p.Ser733=)
c.2148A>T (p.Ser716=)
c.2067A>T (p.Ser689=)
n.2451A>T
Xg.18613199A=CA2417977338CDKL5c.2200A= (p.Thr734=)
c.2149A= (p.Thr717=)
c.2068A= (p.Thr690=)
n.2452A=
Xg.18613199A>CCA412368114CDKL5c.2200A>C (p.Thr734Pro)
c.2149A>C (p.Thr717Pro)
c.2068A>C (p.Thr690Pro)
n.2452A>C
Xg.18613199A>GCA171623CDKL5c.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
Xg.18613199A>TCA412368119CDKL5c.2200A>T (p.Thr734Ser)
c.2149A>T (p.Thr717Ser)
c.2068A>T (p.Thr690Ser)
n.2452A>T
Xg.18613200C>ACA412368128CDKL5c.2201C>A (p.Thr734Asn)
c.2150C>A (p.Thr717Asn)
c.2069C>A (p.Thr690Asn)
n.2453C>A
Xg.18613200C>GCA412368123CDKL5c.2201C>G (p.Thr734Ser)
c.2150C>G (p.Thr717Ser)
c.2069C>G (p.Thr690Ser)
n.2453C>G
Xg.18613200C>TCA412368124CDKL5c.2201C>T (p.Thr734Ile)
c.2150C>T (p.Thr717Ile)
c.2069C>T (p.Thr690Ile)
n.2453C>T
Xg.18613200_18613203dupCA2573158480CDKL5c.2201_2204dup (p.Arg735SerfsTer2)
c.2150_2153dup (p.Arg718SerfsTer2)
c.2069_2072dup (p.Arg691SerfsTer2)
n.2453_2456dup
 ClinVar dbSNP
Xg.18613201T>ACA515473238CDKL5c.2202T>A (p.Thr734=)
c.2151T>A (p.Thr717=)
c.2070T>A (p.Thr690=)
n.2454T>A
Xg.18613201T>CCA515473241CDKL5c.2202T>C (p.Thr734=)
c.2151T>C (p.Thr717=)
c.2070T>C (p.Thr690=)
n.2454T>C
Xg.18613201T>GCA515473242CDKL5c.2202T>G (p.Thr734=)
c.2151T>G (p.Thr717=)
c.2070T>G (p.Thr690=)
n.2454T>G
Xg.18613201_18613203delinsTAGCA2417977339CDKL5c.2202_2204delinsTAG (p.Thr734=)
c.2151_2153delinsTAG (p.Thr717=)
c.2070_2072delinsTAG (p.Thr690=)
n.2454_2456delinsTAG
Xg.18613202A=CA2417977340CDKL5c.2203A= (p.Arg735=)
c.2152A= (p.Arg718=)
c.2071A= (p.Arg691=)
n.2455A=
Xg.18613202A>CCA515473243CDKL5c.2203A>C (p.Arg735=)
c.2152A>C (p.Arg718=)
c.2071A>C (p.Arg691=)
n.2455A>C
Xg.18613202A>GCA412368131CDKL5c.2203A>G (p.Arg735Gly)
c.2152A>G (p.Arg718Gly)
c.2071A>G (p.Arg691Gly)
n.2455A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18613202A>TCA412368134CDKL5c.2203A>T (p.Arg735Ter)
c.2152A>T (p.Arg718Ter)
c.2071A>T (p.Arg691Ter)
n.2455A>T
Xg.18613202dupCA2695231351CDKL5c.2203dup (p.Arg735LysfsTer29)
c.2152dup (p.Arg718LysfsTer29)
c.2071dup (p.Arg691LysfsTer29)
n.2455dup
Xg.18613204_18613205delCA294686CDKL5c.2205_2206del (p.Arg735SerfsTer28)
c.2154_2155del (p.Arg718SerfsTer28)
c.2073_2074del (p.Arg691SerfsTer28)
n.2457_2458del
 ClinVar dbSNP
Xg.18613203G>ACA412368139CDKL5c.2204G>A (p.Arg735Lys)
c.2153G>A (p.Arg718Lys)
c.2072G>A (p.Arg691Lys)
n.2456G>A
Xg.18613203G>CCA412368141CDKL5c.2204G>C (p.Arg735Thr)
c.2153G>C (p.Arg718Thr)
c.2072G>C (p.Arg691Thr)
n.2456G>C
Xg.18613203G>TCA412368145CDKL5c.2204G>T (p.Arg735Ile)
c.2153G>T (p.Arg718Ile)
c.2072G>T (p.Arg691Ile)
n.2456G>T
Xg.18613204A=CA2417977341CDKL5c.2205A= (p.Arg735=)
c.2154A= (p.Arg718=)
c.2073A= (p.Arg691=)
n.2457A=
Xg.18613204A>CCA412368151CDKL5c.2205A>C (p.Arg735Ser)
c.2154A>C (p.Arg718Ser)
c.2073A>C (p.Arg691Ser)
n.2457A>C
Xg.18613204A>GCA515473246CDKL5c.2205A>G (p.Arg735=)
c.2154A>G (p.Arg718=)
c.2073A>G (p.Arg691=)
n.2457A>G
 dbSNP
Xg.18613204A>TCA412368148CDKL5c.2205A>T (p.Arg735Ser)
c.2154A>T (p.Arg718Ser)
c.2073A>T (p.Arg691Ser)
n.2457A>T
Xg.18613205G>ACA412368155CDKL5c.2206G>A (p.Val736Ile)
c.2155G>A (p.Val719Ile)
c.2074G>A (p.Val692Ile)
n.2458G>A
Xg.18613205G>CCA412368158CDKL5c.2206G>C (p.Val736Leu)
c.2155G>C (p.Val719Leu)
c.2074G>C (p.Val692Leu)
n.2458G>C
Xg.18613205G>TCA412368161CDKL5c.2206G>T (p.Val736Phe)
c.2155G>T (p.Val719Phe)
c.2074G>T (p.Val692Phe)
n.2458G>T
Xg.18613206T>ACA412368163CDKL5c.2207T>A (p.Val736Asp)
c.2156T>A (p.Val719Asp)
c.2075T>A (p.Val692Asp)
n.2459T>A
Xg.18613206T>CCA412368166CDKL5c.2207T>C (p.Val736Ala)
c.2156T>C (p.Val719Ala)
c.2075T>C (p.Val692Ala)
n.2459T>C
Xg.18613206T>GCA412368170CDKL5c.2207T>G (p.Val736Gly)
c.2156T>G (p.Val719Gly)
c.2075T>G (p.Val692Gly)
n.2459T>G
Xg.18613207T>ACA515473249CDKL5c.2208T>A (p.Val736=)
c.2157T>A (p.Val719=)
c.2076T>A (p.Val692=)
n.2460T>A
Xg.18613207T>CCA515473250CDKL5c.2208T>C (p.Val736=)
c.2157T>C (p.Val719=)
c.2076T>C (p.Val692=)
n.2460T>C
Xg.18613207T>GCA515473252CDKL5c.2208T>G (p.Val736=)
c.2157T>G (p.Val719=)
c.2076T>G (p.Val692=)
n.2460T>G
Xg.18613208T>ACA412368173CDKL5c.2209T>A (p.Ser737Thr)
c.2158T>A (p.Ser720Thr)
c.2077T>A (p.Ser693Thr)
n.2461T>A
Xg.18613208T>CCA412368176CDKL5c.2209T>C (p.Ser737Pro)
c.2158T>C (p.Ser720Pro)
c.2077T>C (p.Ser693Pro)
n.2461T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18613208T>GCA412368178CDKL5c.2209T>G (p.Ser737Ala)
c.2158T>G (p.Ser720Ala)
c.2077T>G (p.Ser693Ala)
n.2461T>G
Xg.18613208T=CA2417977342CDKL5c.2209T= (p.Ser737=)
c.2158T= (p.Ser720=)
c.2077T= (p.Ser693=)
n.2461T=
Xg.18613209C>ACA412368182CDKL5c.2210C>A (p.Ser737Tyr)
c.2159C>A (p.Ser720Tyr)
c.2078C>A (p.Ser693Tyr)
n.2462C>A
Xg.18613209C>GCA412368184CDKL5c.2210C>G (p.Ser737Cys)
c.2159C>G (p.Ser720Cys)
c.2078C>G (p.Ser693Cys)
n.2462C>G
 COSMIC
Xg.18613209C>TCA412368188CDKL5c.2210C>T (p.Ser737Phe)
c.2159C>T (p.Ser720Phe)
c.2078C>T (p.Ser693Phe)
n.2462C>T
Xg.18613210T>ACA515473253CDKL5c.2211T>A (p.Ser737=)
c.2160T>A (p.Ser720=)
c.2079T>A (p.Ser693=)
n.2463T>A
Xg.18613210T>CCA515473254CDKL5c.2211T>C (p.Ser737=)
c.2160T>C (p.Ser720=)
c.2079T>C (p.Ser693=)
n.2463T>C
Xg.18613210T>GCA515473255CDKL5c.2211T>G (p.Ser737=)
c.2160T>G (p.Ser720=)
c.2079T>G (p.Ser693=)
n.2463T>G
Xg.18613211T>ACA412368191CDKL5c.2212T>A (p.Ser738Thr)
c.2161T>A (p.Ser721Thr)
c.2080T>A (p.Ser694Thr)
n.2464T>A
Xg.18613211T>CCA412368196CDKL5c.2212T>C (p.Ser738Pro)
c.2161T>C (p.Ser721Pro)
c.2080T>C (p.Ser694Pro)
n.2464T>C
Xg.18613211T>GCA412368193CDKL5c.2212T>G (p.Ser738Ala)
c.2161T>G (p.Ser721Ala)
c.2080T>G (p.Ser694Ala)
n.2464T>G
Xg.18613211_18613214delinsTCTCCA2417977343CDKL5c.2212_2215delinsTCTC (p.Ser738=)
c.2161_2164delinsTCTC (p.Ser721=)
c.2080_2083delinsTCTC (p.Ser694=)
n.2464_2467delinsTCTC
Xg.18613212C>ACA412368199CDKL5c.2213C>A (p.Ser738Tyr)
c.2162C>A (p.Ser721Tyr)
c.2081C>A (p.Ser694Tyr)
n.2465C>A
Xg.18613212C>GCA412368205CDKL5c.2213C>G (p.Ser738Cys)
c.2162C>G (p.Ser721Cys)
c.2081C>G (p.Ser694Cys)
n.2465C>G
Xg.18613212C>TCA412368202CDKL5c.2213C>T (p.Ser738Phe)
c.2162C>T (p.Ser721Phe)
c.2081C>T (p.Ser694Phe)
n.2465C>T
Xg.18613212_18613214delCA1139667250CDKL5c.2213_2215del (p.Ser738del)
c.2162_2164del (p.Ser721del)
c.2081_2083del (p.Ser694del)
n.2465_2467del
 ClinVar dbSNP
Xg.18613213T>ACA515473258CDKL5c.2214T>A (p.Ser738=)
c.2163T>A (p.Ser721=)
c.2082T>A (p.Ser694=)
n.2466T>A
Xg.18613213T>CCA515473259CDKL5c.2214T>C (p.Ser738=)
c.2163T>C (p.Ser721=)
c.2082T>C (p.Ser694=)
n.2466T>C
Xg.18613213T>GCA515473260CDKL5c.2214T>G (p.Ser738=)
c.2163T>G (p.Ser721=)
c.2082T>G (p.Ser694=)
n.2466T>G
Xg.18613214C>ACA412368209CDKL5c.2215C>A (p.Leu739Ile)
c.2164C>A (p.Leu722Ile)
c.2083C>A (p.Leu695Ile)
n.2467C>A
Xg.18613214C=CA2417977344CDKL5c.2215C= (p.Leu739=)
c.2164C= (p.Leu722=)
c.2083C= (p.Leu695=)
n.2467C=
Xg.18613214C>GCA10360509CDKL5c.2215C>G (p.Leu739Val)
c.2164C>G (p.Leu722Val)
c.2083C>G (p.Leu695Val)
n.2467C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613214C>TCA205703CDKL5c.2215C>T (p.Leu739=)
c.2164C>T (p.Leu722=)
c.2083C>T (p.Leu695=)
n.2467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613215delCA2580100387CDKL5c.2216del (p.Leu739HisfsTer?)
c.2165del (p.Leu722HisfsTer?)
c.2084del (p.Leu695HisfsTer?)
n.2468del
 ClinVar
Xg.18613215T>ACA412368215CDKL5c.2216T>A (p.Leu739Gln)
c.2165T>A (p.Leu722Gln)
c.2084T>A (p.Leu695Gln)
n.2468T>A
Xg.18613215T>CCA412368217CDKL5c.2216T>C (p.Leu739Pro)
c.2165T>C (p.Leu722Pro)
c.2084T>C (p.Leu695Pro)
n.2468T>C
 gnomAD v4
Xg.18613215T>GCA412368220CDKL5c.2216T>G (p.Leu739Arg)
c.2165T>G (p.Leu722Arg)
c.2084T>G (p.Leu695Arg)
n.2468T>G
Xg.18613216delCA645620504CDKL5c.2217del (p.Pro740HisfsTer?)
c.2166del (p.Pro723HisfsTer?)
c.2085del (p.Pro696HisfsTer?)
n.2469del
 COSMIC
Xg.18613216A=CA2417977345CDKL5c.2217A= (p.Leu739=)
c.2166A= (p.Leu722=)
c.2085A= (p.Leu695=)
n.2469A=
Xg.18613216A>CCA515473266CDKL5c.2217A>C (p.Leu739=)
c.2166A>C (p.Leu722=)
c.2085A>C (p.Leu695=)
n.2469A>C
Xg.18613216A>GCA515473264CDKL5c.2217A>G (p.Leu739=)
c.2166A>G (p.Leu722=)
c.2085A>G (p.Leu695=)
n.2469A>G
 ClinVar dbSNP
Xg.18613216A>TCA515473263CDKL5c.2217A>T (p.Leu739=)
c.2166A>T (p.Leu722=)
c.2085A>T (p.Leu695=)
n.2469A>T
Xg.18613217C>ACA10360511CDKL5c.2218C>A (p.Pro740Thr)
c.2167C>A (p.Pro723Thr)
c.2086C>A (p.Pro696Thr)
n.2470C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613217C=CA2417977346CDKL5c.2218C= (p.Pro740=)
c.2167C= (p.Pro723=)
c.2086C= (p.Pro696=)
n.2470C=
Xg.18613217C>GCA10360510CDKL5c.2218C>G (p.Pro740Ala)
c.2167C>G (p.Pro723Ala)
c.2086C>G (p.Pro696Ala)
n.2470C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18613217C>TCA412368229CDKL5c.2218C>T (p.Pro740Ser)
c.2167C>T (p.Pro723Ser)
c.2086C>T (p.Pro696Ser)
n.2470C>T
Xg.18613218C>ACA412368233CDKL5c.2219C>A (p.Pro740Gln)
c.2168C>A (p.Pro723Gln)
c.2087C>A (p.Pro696Gln)
n.2471C>A
Xg.18613218C>GCA412368237CDKL5c.2219C>G (p.Pro740Arg)
c.2168C>G (p.Pro723Arg)
c.2087C>G (p.Pro696Arg)
n.2471C>G
Xg.18613218C>TCA412368240CDKL5c.2219C>T (p.Pro740Leu)
c.2168C>T (p.Pro723Leu)
c.2087C>T (p.Pro696Leu)
n.2471C>T
 ClinVar dbSNP
Xg.18613219delCA2579563002CDKL5c.2220del (p.Ser741GlnfsTer?)
c.2169del (p.Ser724GlnfsTer?)
c.2088del (p.Ser697GlnfsTer?)
n.2472del
Xg.18613219A=CA2417977347CDKL5c.2220A= (p.Pro740=)
c.2169A= (p.Pro723=)
c.2088A= (p.Pro696=)
n.2472A=
Xg.18613219A>CCA515473269CDKL5c.2220A>C (p.Pro740=)
c.2169A>C (p.Pro723=)
c.2088A>C (p.Pro696=)
n.2472A>C
Xg.18613219A>GCA10360512CDKL5c.2220A>G (p.Pro740=)
c.2169A>G (p.Pro723=)
c.2088A>G (p.Pro696=)
n.2472A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613219A>TCA515473272CDKL5c.2220A>T (p.Pro740=)
c.2169A>T (p.Pro723=)
c.2088A>T (p.Pro696=)
n.2472A>T
Xg.18613220T>ACA412368246CDKL5c.2221T>A (p.Ser741Thr)
c.2170T>A (p.Ser724Thr)
c.2089T>A (p.Ser697Thr)
n.2473T>A
Xg.18613220T>CCA412368249CDKL5c.2221T>C (p.Ser741Pro)
c.2170T>C (p.Ser724Pro)
c.2089T>C (p.Ser697Pro)
n.2473T>C
Xg.18613220T>GCA412368250CDKL5c.2221T>G (p.Ser741Ala)
c.2170T>G (p.Ser724Ala)
c.2089T>G (p.Ser697Ala)
n.2473T>G
 gnomAD v4
Xg.18613221C>ACA412368253CDKL5c.2222C>A (p.Ser741Ter)
c.2171C>A (p.Ser724Ter)
c.2090C>A (p.Ser697Ter)
n.2474C>A
Xg.18613221C>GCA412368256CDKL5c.2222C>G (p.Ser741Ter)
c.2171C>G (p.Ser724Ter)
c.2090C>G (p.Ser697Ter)
n.2474C>G
Xg.18613221C>TCA412368261CDKL5c.2222C>T (p.Ser741Leu)
c.2171C>T (p.Ser724Leu)
c.2090C>T (p.Ser697Leu)
n.2474C>T
 COSMIC
Xg.18613222A>CCA515473273CDKL5c.2223A>C (p.Ser741=)
c.2172A>C (p.Ser724=)
c.2091A>C (p.Ser697=)
n.2475A>C
Xg.18613222A>GCA515473278CDKL5c.2223A>G (p.Ser741=)
c.2172A>G (p.Ser724=)
c.2091A>G (p.Ser697=)
n.2475A>G
 gnomAD v4
Xg.18613222A>TCA515473275CDKL5c.2223A>T (p.Ser741=)
c.2172A>T (p.Ser724=)
c.2091A>T (p.Ser697=)
n.2475A>T
Xg.18613226_18613227delCA2580615395CDKL5c.2227_2228del (p.Ser743GlnfsTer20)
c.2176_2177del (p.Ser726GlnfsTer20)
c.2095_2096del (p.Ser699GlnfsTer20)
n.2479_2480del
 ClinVar dbSNP
Xg.18613224_18613227delCA2695231352CDKL5c.2225_2228del (p.Glu742AlafsTer?)
c.2174_2177del (p.Glu725AlafsTer?)
c.2093_2096del (p.Glu698AlafsTer?)
n.2477_2480del
Xg.18613223G>ACA412368266CDKL5c.2224G>A (p.Glu742Lys)
c.2173G>A (p.Glu725Lys)
c.2092G>A (p.Glu698Lys)
n.2476G>A
Xg.18613223G>CCA412368274CDKL5c.2224G>C (p.Glu742Gln)
c.2173G>C (p.Glu725Gln)
c.2092G>C (p.Glu698Gln)
n.2476G>C
Xg.18613223G>TCA412368279CDKL5c.2224G>T (p.Glu742Ter)
c.2173G>T (p.Glu725Ter)
c.2092G>T (p.Glu698Ter)
n.2476G>T
Xg.18613224A>CCA412368283CDKL5c.2225A>C (p.Glu742Ala)
c.2174A>C (p.Glu725Ala)
c.2093A>C (p.Glu698Ala)
n.2477A>C
Xg.18613224A>GCA412368285CDKL5c.2225A>G (p.Glu742Gly)
c.2174A>G (p.Glu725Gly)
c.2093A>G (p.Glu698Gly)
n.2477A>G
Xg.18613224A>TCA412368288CDKL5c.2225A>T (p.Glu742Val)
c.2174A>T (p.Glu725Val)
c.2093A>T (p.Glu698Val)
n.2477A>T
Xg.18613225G>ACA515473280CDKL5c.2226G>A (p.Glu742=)
c.2175G>A (p.Glu725=)
c.2094G>A (p.Glu698=)
n.2478G>A
 COSMIC
Xg.18613225G>CCA412368293CDKL5c.2226G>C (p.Glu742Asp)
c.2175G>C (p.Glu725Asp)
c.2094G>C (p.Glu698Asp)
n.2478G>C
Xg.18613225G>TCA412368291CDKL5c.2226G>T (p.Glu742Asp)
c.2175G>T (p.Glu725Asp)
c.2094G>T (p.Glu698Asp)
n.2478G>T
Xg.18613225_18613260delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACCCA2417977348CDKL5c.2226_2261delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu742=)
c.2175_2210delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu725=)
c.2094_2129delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu698=)
n.2478_2513delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC
Xg.18613226A>CCA412368302CDKL5c.2227A>C (p.Ser743Arg)
c.2176A>C (p.Ser726Arg)
c.2095A>C (p.Ser699Arg)
n.2479A>C
Xg.18613226A>GCA412368304CDKL5c.2227A>G (p.Ser743Gly)
c.2176A>G (p.Ser726Gly)
c.2095A>G (p.Ser699Gly)
n.2479A>G
Xg.18613226A>TCA412368308CDKL5c.2227A>T (p.Ser743Cys)
c.2176A>T (p.Ser726Cys)
c.2095A>T (p.Ser699Cys)
n.2479A>T
Xg.18613230_18613264delCA16621283CDKL5c.2231_2265del (p.Ser744IlefsTer8)
c.2180_2214del (p.Ser727IlefsTer8)
c.2099_2133del (p.Ser700IlefsTer8)
n.2483_2517del
 ClinVar dbSNP
Xg.18613227G>ACA412368311CDKL5c.2228G>A (p.Ser743Asn)
c.2177G>A (p.Ser726Asn)
c.2096G>A (p.Ser699Asn)
n.2480G>A
Xg.18613227G>CCA412368314CDKL5c.2228G>C (p.Ser743Thr)
c.2177G>C (p.Ser726Thr)
c.2096G>C (p.Ser699Thr)
n.2480G>C
Xg.18613227G>TCA412368317CDKL5c.2228G>T (p.Ser743Ile)
c.2177G>T (p.Ser726Ile)
c.2096G>T (p.Ser699Ile)
n.2480G>T

Number of alleles fetched