Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.50411136T>C	CA14030261	CDKL1	n.37-488A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50411136T=	CA2136187834	CDKL1	n.37-488A=
14	g.50411138C=	CA2136187835	CDKL1	n.37-490G=
14	g.50411138C>G	CA2136187836	CDKL1	n.37-490G>C	dbSNP
14	g.50411138C>T	CA706566227	CDKL1	n.37-490G>A	dbSNP gnomAD v3 gnomAD v4
14	g.50411139A>G	CA2801541428	CDKL1	n.37-491T>C
14	g.50411145G=	CA2136187837	CDKL1	n.37-497C=
14	g.50411145G>T	CA2136187838	CDKL1	n.37-497C>A	dbSNP
14	g.50411156A=	CA2136187839	CDKL1	n.37-508T=
14	g.50411156A>C	CA2136187840	CDKL1	n.37-508T>G	dbSNP
14	g.50411160C=	CA2136187841	CDKL1	n.37-512G=
14	g.50411160C>T	CA2136187842	CDKL1	n.37-512G>A	dbSNP
14	g.50411163A=	CA2136187843	CDKL1	n.37-515T=
14	g.50411163A>G	CA2136187844	CDKL1	n.37-515T>C	dbSNP
14	g.50411167A=	CA2136187845	CDKL1	n.37-519T=
14	g.50411167A>G	CA260776924	CDKL1	n.37-519T>C	dbSNP
14	g.50411183T>C	CA2136187847	CDKL1	n.37-535A>G	dbSNP
14	g.50411183T=	CA2136187846	CDKL1	n.37-535A=
14	g.50411185G>A	CA706566233	CDKL1	n.37-537C>T	dbSNP gnomAD v3 gnomAD v4
14	g.50411185G=	CA2136187848	CDKL1	n.37-537C=
14	g.50411185G>T	CA486183286	CDKL1	n.37-537C>A
14	g.50411188A>G	CA2570222667	CDKL1	n.37-540T>C
14	g.50411191_50411202del	CA2729652294	CDKL1	n.37-551_37-540del	dbSNP
14	g.50411189_50411190delinsGT	CA2136187849	CDKL1	n.37-542_37-541delinsAC
14	g.50411192del	CA260776933	CDKL1	n.37-542del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50411191T>C	CA963038070	CDKL1	n.37-543A>G	dbSNP gnomAD v3 gnomAD v4
14	g.50411191T=	CA2136187850	CDKL1	n.37-543A=
14	g.50411191_50411193del	CA2801541429	CDKL1	n.37-545_37-543del
14	g.50411199G>C	CA2136187852	CDKL1	n.37-551C>G	dbSNP
14	g.50411199G=	CA2136187851	CDKL1	n.37-551C=
14	g.50411202T>G	CA260776934	CDKL1	n.37-554A>C	dbSNP gnomAD v3 gnomAD v4
14	g.50411202T=	CA2136187853	CDKL1	n.37-554A=
14	g.50411208C=	CA2136187854	CDKL1	n.37-560G=
14	g.50411208C>T	CA2136187855	CDKL1	n.37-560G>A	dbSNP
14	g.50411210T>C	CA706566236	CDKL1	n.37-562A>G	dbSNP
14	g.50411210T=	CA2136187856	CDKL1	n.37-562A=
14	g.50411216A>T	CA2801541430	CDKL1	n.37-568T>A
14	g.50411218A=	CA2136187857	CDKL1	n.37-570T=
14	g.50411218A>G	CA260776939	CDKL1	n.37-570T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50411219C>A	CA2136187858	CDKL1	n.37-571G>T	dbSNP
14	g.50411219C=	CA2136187859	CDKL1	n.37-571G=
14	g.50411219C>T	CA2729596285	CDKL1	n.37-571G>A	dbSNP
14	g.50411221A=	CA2136187860	CDKL1	n.37-573T=
14	g.50411221A>G	CA2136187861	CDKL1	n.37-573T>C	dbSNP
14	g.50411224dup	CA963038074	CDKL1	n.37-574dup	dbSNP gnomAD v3 gnomAD v4
14	g.50411224T>A	CA2801541431	CDKL1	n.37-576A>T
14	g.50411224T>C	CA613858267	CDKL1	n.37-576A>G	dbSNP gnomAD v2
14	g.50411224T=	CA2136187862	CDKL1	n.37-576A=
14	g.50411227A=	CA2136187863	CDKL1	n.37-579T=
14	g.50411227A>G	CA613858268	CDKL1	n.37-579T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.50411228T>C	CA706566243	CDKL1	n.37-580A>G	dbSNP gnomAD v3 gnomAD v4
14	g.50411228T=	CA2136187864	CDKL1	n.37-580A=
14	g.50411229G=	CA2136187865	CDKL1	n.37-581C=
14	g.50411229G>T	CA260776950	CDKL1	n.37-581C>A	dbSNP
14	g.50411236G>A	CA706566246	CDKL1	n.37-588C>T	dbSNP
14	g.50411236G=	CA2136187866	CDKL1	n.37-588C=

Number of alleles fetched