Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18613225_18613260delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACCCA2417977348CDKL5c.2226_2261delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu742=)
c.2175_2210delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu725=)
c.2094_2129delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu698=)
n.2478_2513delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC
Xg.18613230_18613264delCA16621283CDKL5c.2231_2265del (p.Ser744IlefsTer8)
c.2180_2214del (p.Ser727IlefsTer8)
c.2099_2133del (p.Ser700IlefsTer8)
n.2483_2517del
 ClinVar dbSNP
Xg.18613254_18613258dupCA2740092049CDKL5c.2255_2259dup (p.Pro754AspfsTer?)
c.2204_2208dup (p.Pro737AspfsTer?)
c.2123_2127dup (p.Pro710AspfsTer?)
n.2507_2511dup
 ClinVar
Xg.18613252_18613260delinsAAGACAACCCA2417977356CDKL5c.2253_2261delinsAAGACAACC (p.Lys751=)
c.2202_2210delinsAAGACAACC (p.Lys734=)
c.2121_2129delinsAAGACAACC (p.Lys707=)
n.2505_2513delinsAAGACAACC
Xg.18613255_18613262delCA1139667251CDKL5c.2256_2263del (p.Arg752SerfsTer9)
c.2205_2212del (p.Arg735SerfsTer9)
c.2124_2131del (p.Arg708SerfsTer9)
n.2508_2515del
 ClinVar dbSNP
Xg.18613254G>ACA412368516CDKL5c.2255G>A (p.Arg752Lys)
c.2204G>A (p.Arg735Lys)
c.2123G>A (p.Arg708Lys)
n.2507G>A
Xg.18613254G>CCA412368522CDKL5c.2255G>C (p.Arg752Thr)
c.2204G>C (p.Arg735Thr)
c.2123G>C (p.Arg708Thr)
n.2507G>C
Xg.18613254G>TCA412368519CDKL5c.2255G>T (p.Arg752Ile)
c.2204G>T (p.Arg735Ile)
c.2123G>T (p.Arg708Ile)
n.2507G>T
Xg.18613255A=CA2417977357CDKL5c.2256A= (p.Arg752=)
c.2205A= (p.Arg735=)
c.2124A= (p.Arg708=)
n.2508A=
Xg.18613255A>CCA412368525CDKL5c.2256A>C (p.Arg752Ser)
c.2205A>C (p.Arg735Ser)
c.2124A>C (p.Arg708Ser)
n.2508A>C
Xg.18613255A>GCA10360514CDKL5c.2256A>G (p.Arg752=)
c.2205A>G (p.Arg735=)
c.2124A>G (p.Arg708=)
n.2508A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613255A>TCA412368531CDKL5c.2256A>T (p.Arg752Ser)
c.2205A>T (p.Arg735Ser)
c.2124A>T (p.Arg708Ser)
n.2508A>T
Xg.18613256C>ACA412368534CDKL5c.2257C>A (p.Gln753Lys)
c.2206C>A (p.Gln736Lys)
c.2125C>A (p.Gln709Lys)
n.2509C>A
Xg.18613256C>GCA412368535CDKL5c.2257C>G (p.Gln753Glu)
c.2206C>G (p.Gln736Glu)
c.2125C>G (p.Gln709Glu)
n.2509C>G
Xg.18613256C>TCA412368536CDKL5c.2257C>T (p.Gln753Ter)
c.2206C>T (p.Gln736Ter)
c.2125C>T (p.Gln709Ter)
n.2509C>T
Xg.18613257A>CCA412368541CDKL5c.2258A>C (p.Gln753Pro)
c.2207A>C (p.Gln736Pro)
c.2126A>C (p.Gln709Pro)
n.2510A>C
Xg.18613257A>GCA412368537CDKL5c.2258A>G (p.Gln753Arg)
c.2207A>G (p.Gln736Arg)
c.2126A>G (p.Gln709Arg)
n.2510A>G
Xg.18613257A>TCA412368538CDKL5c.2258A>T (p.Gln753Leu)
c.2207A>T (p.Gln736Leu)
c.2126A>T (p.Gln709Leu)
n.2510A>T
Xg.18613258A=CA2417977358CDKL5c.2259A= (p.Gln753=)
c.2208A= (p.Gln736=)
c.2127A= (p.Gln709=)
n.2511A=
Xg.18613258A>CCA412368544CDKL5c.2259A>C (p.Gln753His)
c.2208A>C (p.Gln736His)
c.2127A>C (p.Gln709His)
n.2511A>C
Xg.18613258A>GCA515473318CDKL5c.2259A>G (p.Gln753=)
c.2208A>G (p.Gln736=)
c.2127A>G (p.Gln709=)
n.2511A>G
 gnomAD v4
Xg.18613258A>TCA412368546CDKL5c.2259A>T (p.Gln753His)
c.2208A>T (p.Gln736His)
c.2127A>T (p.Gln709His)
n.2511A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18613259C>ACA412368565CDKL5c.2260C>A (p.Pro754Thr)
c.2209C>A (p.Pro737Thr)
c.2128C>A (p.Pro710Thr)
n.2512C>A
Xg.18613259C>GCA412368567CDKL5c.2260C>G (p.Pro754Ala)
c.2209C>G (p.Pro737Ala)
c.2128C>G (p.Pro710Ala)
n.2512C>G
Xg.18613259C>TCA412368570CDKL5c.2260C>T (p.Pro754Ser)
c.2209C>T (p.Pro737Ser)
c.2128C>T (p.Pro710Ser)
n.2512C>T
Xg.18613260C>ACA412368574CDKL5c.2261C>A (p.Pro754Gln)
c.2210C>A (p.Pro737Gln)
c.2129C>A (p.Pro710Gln)
n.2513C>A
Xg.18613260C>GCA412368579CDKL5c.2261C>G (p.Pro754Arg)
c.2210C>G (p.Pro737Arg)
c.2129C>G (p.Pro710Arg)
n.2513C>G
Xg.18613260C>TCA412368577CDKL5c.2261C>T (p.Pro754Leu)
c.2210C>T (p.Pro737Leu)
c.2129C>T (p.Pro710Leu)
n.2513C>T
Xg.18613261A>CCA515473322CDKL5c.2262A>C (p.Pro754=)
c.2211A>C (p.Pro737=)
c.2130A>C (p.Pro710=)
n.2514A>C
Xg.18613261A>GCA515473323CDKL5c.2262A>G (p.Pro754=)
c.2211A>G (p.Pro737=)
c.2130A>G (p.Pro710=)
n.2514A>G
Xg.18613261A>TCA515473324CDKL5c.2262A>T (p.Pro754=)
c.2211A>T (p.Pro737=)
c.2130A>T (p.Pro710=)
n.2514A>T
Xg.18613262G>ACA412368583CDKL5c.2263G>A (p.Ala755Thr)
c.2212G>A (p.Ala738Thr)
c.2131G>A (p.Ala711Thr)
n.2515G>A
Xg.18613262G>CCA412368590CDKL5c.2263G>C (p.Ala755Pro)
c.2212G>C (p.Ala738Pro)
c.2131G>C (p.Ala711Pro)
n.2515G>C
Xg.18613262G>TCA412368594CDKL5c.2263G>T (p.Ala755Ser)
c.2212G>T (p.Ala738Ser)
c.2131G>T (p.Ala711Ser)
n.2515G>T
Xg.18613263C>ACA412368598CDKL5c.2264C>A (p.Ala755Glu)
c.2213C>A (p.Ala738Glu)
c.2132C>A (p.Ala711Glu)
n.2516C>A
Xg.18613263C>GCA412368600CDKL5c.2264C>G (p.Ala755Gly)
c.2213C>G (p.Ala738Gly)
c.2132C>G (p.Ala711Gly)
n.2516C>G
Xg.18613263C>TCA412368603CDKL5c.2264C>T (p.Ala755Val)
c.2213C>T (p.Ala738Val)
c.2132C>T (p.Ala711Val)
n.2516C>T
Xg.18613264A=CA2417977359CDKL5c.2265A= (p.Ala755=)
c.2214A= (p.Ala738=)
c.2133A= (p.Ala711=)
n.2517A=
Xg.18613264A>CCA515473325CDKL5c.2265A>C (p.Ala755=)
c.2214A>C (p.Ala738=)
c.2133A>C (p.Ala711=)
n.2517A>C
Xg.18613264A>GCA515473327CDKL5c.2265A>G (p.Ala755=)
c.2214A>G (p.Ala738=)
c.2133A>G (p.Ala711=)
n.2517A>G
Xg.18613264A>TCA233655CDKL5c.2265A>T (p.Ala755=)
c.2214A>T (p.Ala738=)
c.2133A>T (p.Ala711=)
n.2517A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18613265T>ACA412368614CDKL5c.2266T>A (p.Phe756Ile)
c.2215T>A (p.Phe739Ile)
c.2134T>A (p.Phe712Ile)
n.2518T>A
Xg.18613265T>CCA412368622CDKL5c.2266T>C (p.Phe756Leu)
c.2215T>C (p.Phe739Leu)
c.2134T>C (p.Phe712Leu)
n.2518T>C
Xg.18613265T>GCA412368625CDKL5c.2266T>G (p.Phe756Val)
c.2215T>G (p.Phe739Val)
c.2134T>G (p.Phe712Val)
n.2518T>G
Xg.18613266T>ACA412368646CDKL5c.2267T>A (p.Phe756Tyr)
c.2216T>A (p.Phe739Tyr)
c.2135T>A (p.Phe712Tyr)
n.2519T>A
Xg.18613266T>CCA412368654CDKL5c.2267T>C (p.Phe756Ser)
c.2216T>C (p.Phe739Ser)
c.2135T>C (p.Phe712Ser)
n.2519T>C
Xg.18613266T>GCA412368648CDKL5c.2267T>G (p.Phe756Cys)
c.2216T>G (p.Phe739Cys)
c.2135T>G (p.Phe712Cys)
n.2519T>G
Xg.18613267C>ACA412368659CDKL5c.2268C>A (p.Phe756Leu)
c.2217C>A (p.Phe739Leu)
c.2136C>A (p.Phe712Leu)
n.2520C>A
 gnomAD v4
Xg.18613267C>GCA412368660CDKL5c.2268C>G (p.Phe756Leu)
c.2217C>G (p.Phe739Leu)
c.2136C>G (p.Phe712Leu)
n.2520C>G
Xg.18613267C>TCA515473330CDKL5c.2268C>T (p.Phe756=)
c.2217C>T (p.Phe739=)
c.2136C>T (p.Phe712=)
n.2520C>T
 ClinVar gnomAD v4

Number of alleles fetched