Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18628423delCA294691CDKL5c.2549del (p.Asn850IlefsTer13)
c.2672del (p.Asn891IlefsTer13)
c.2621del (p.Asn874IlefsTer13)
c.2540del (p.Asn847IlefsTer13)
n.2924del
 ClinVar dbSNP
Xg.18628423A>CCA412367159CDKL5c.2549A>C (p.Asn850Thr)
c.2672A>C (p.Asn891Thr)
c.2621A>C (p.Asn874Thr)
c.2540A>C (p.Asn847Thr)
n.2924A>C
Xg.18628423A>GCA412367160CDKL5c.2549A>G (p.Asn850Ser)
c.2672A>G (p.Asn891Ser)
c.2621A>G (p.Asn874Ser)
c.2540A>G (p.Asn847Ser)
n.2924A>G
Xg.18628423A>TCA412367161CDKL5c.2549A>T (p.Asn850Ile)
c.2672A>T (p.Asn891Ile)
c.2621A>T (p.Asn874Ile)
c.2540A>T (p.Asn847Ile)
n.2924A>T
Xg.18628424T>ACA412367163CDKL5c.2550T>A (p.Asn850Lys)
c.2673T>A (p.Asn891Lys)
c.2622T>A (p.Asn874Lys)
c.2541T>A (p.Asn847Lys)
n.2925T>A
Xg.18628424T>CCA515470584CDKL5c.2550T>C (p.Asn850=)
c.2673T>C (p.Asn891=)
c.2622T>C (p.Asn874=)
c.2541T>C (p.Asn847=)
n.2925T>C
Xg.18628424T>GCA412367165CDKL5c.2550T>G (p.Asn850Lys)
c.2673T>G (p.Asn891Lys)
c.2622T>G (p.Asn874Lys)
c.2541T>G (p.Asn847Lys)
n.2925T>G
Xg.18628425C>ACA10360563CDKL5c.2551C>A (p.His851Asn)
c.2674C>A (p.His892Asn)
c.2623C>A (p.His875Asn)
c.2542C>A (p.His848Asn)
n.2926C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628425C=CA2417982179CDKL5c.2551C= (p.His851=)
c.2674C= (p.His892=)
c.2623C= (p.His875=)
c.2542C= (p.His848=)
n.2926C=
Xg.18628425C>GCA412367169CDKL5c.2551C>G (p.His851Asp)
c.2674C>G (p.His892Asp)
c.2623C>G (p.His875Asp)
c.2542C>G (p.His848Asp)
n.2926C>G
Xg.18628425C>TCA412367171CDKL5c.2551C>T (p.His851Tyr)
c.2674C>T (p.His892Tyr)
c.2623C>T (p.His875Tyr)
c.2542C>T (p.His848Tyr)
n.2926C>T
Xg.18628426A=CA2417982180CDKL5c.2552A= (p.His851=)
c.2675A= (p.His892=)
c.2624A= (p.His875=)
c.2543A= (p.His848=)
n.2927A=
Xg.18628426A>CCA412367177CDKL5c.2552A>C (p.His851Pro)
c.2675A>C (p.His892Pro)
c.2624A>C (p.His875Pro)
c.2543A>C (p.His848Pro)
n.2927A>C
Xg.18628426A>GCA10360564CDKL5c.2552A>G (p.His851Arg)
c.2675A>G (p.His892Arg)
c.2624A>G (p.His875Arg)
c.2543A>G (p.His848Arg)
n.2927A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628426A>TCA412367174CDKL5c.2552A>T (p.His851Leu)
c.2675A>T (p.His892Leu)
c.2624A>T (p.His875Leu)
c.2543A>T (p.His848Leu)
n.2927A>T
Xg.18628427C>ACA412367181CDKL5c.2553C>A (p.His851Gln)
c.2676C>A (p.His892Gln)
c.2625C>A (p.His875Gln)
c.2544C>A (p.His848Gln)
n.2928C>A
Xg.18628427C>GCA412367182CDKL5c.2553C>G (p.His851Gln)
c.2676C>G (p.His892Gln)
c.2625C>G (p.His875Gln)
c.2544C>G (p.His848Gln)
n.2928C>G
 gnomAD v4
Xg.18628427C>TCA515470586CDKL5c.2553C>T (p.His851=)
c.2676C>T (p.His892=)
c.2625C>T (p.His875=)
c.2544C>T (p.His848=)
n.2928C>T
Xg.18628428C>ACA412367183CDKL5c.2554C>A (p.Pro852Thr)
c.2677C>A (p.Pro893Thr)
c.2626C>A (p.Pro876Thr)
c.2545C>A (p.Pro849Thr)
n.2929C>A
Xg.18628428C>GCA412367185CDKL5c.2554C>G (p.Pro852Ala)
c.2677C>G (p.Pro893Ala)
c.2626C>G (p.Pro876Ala)
c.2545C>G (p.Pro849Ala)
n.2929C>G
Xg.18628428C>TCA412367188CDKL5c.2554C>T (p.Pro852Ser)
c.2677C>T (p.Pro893Ser)
c.2626C>T (p.Pro876Ser)
c.2545C>T (p.Pro849Ser)
n.2929C>T
Xg.18628429C>ACA412367190CDKL5c.2555C>A (p.Pro852Gln)
c.2678C>A (p.Pro893Gln)
c.2627C>A (p.Pro876Gln)
c.2546C>A (p.Pro849Gln)
n.2930C>A
Xg.18628429C=CA2417982181CDKL5c.2555C= (p.Pro852=)
c.2678C= (p.Pro893=)
c.2627C= (p.Pro876=)
c.2546C= (p.Pro849=)
n.2930C=
Xg.18628429C>GCA294760CDKL5c.2555C>G (p.Pro852Arg)
c.2678C>G (p.Pro893Arg)
c.2627C>G (p.Pro876Arg)
c.2546C>G (p.Pro849Arg)
n.2930C>G
 ClinVar dbSNP
Xg.18628429C>TCA294764CDKL5c.2555C>T (p.Pro852Leu)
c.2678C>T (p.Pro893Leu)
c.2627C>T (p.Pro876Leu)
c.2546C>T (p.Pro849Leu)
n.2930C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628430G>ACA10360565CDKL5c.2556G>A (p.Pro852=)
c.2679G>A (p.Pro893=)
c.2628G>A (p.Pro876=)
c.2547G>A (p.Pro849=)
n.2931G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628430G>CCA515470587CDKL5c.2556G>C (p.Pro852=)
c.2679G>C (p.Pro893=)
c.2628G>C (p.Pro876=)
c.2547G>C (p.Pro849=)
n.2931G>C
Xg.18628430G=CA2417982182CDKL5c.2556G= (p.Pro852=)
c.2679G= (p.Pro893=)
c.2628G= (p.Pro876=)
c.2547G= (p.Pro849=)
n.2931G=
Xg.18628430G>TCA515470588CDKL5c.2556G>T (p.Pro852=)
c.2679G>T (p.Pro893=)
c.2628G>T (p.Pro876=)
c.2547G>T (p.Pro849=)
n.2931G>T
Xg.18628431G>ACA412367197CDKL5c.2557G>A (p.Ala853Thr)
c.2680G>A (p.Ala894Thr)
c.2629G>A (p.Ala877Thr)
c.2548G>A (p.Ala850Thr)
n.2932G>A
Xg.18628431G>CCA412367198CDKL5c.2557G>C (p.Ala853Pro)
c.2680G>C (p.Ala894Pro)
c.2629G>C (p.Ala877Pro)
c.2548G>C (p.Ala850Pro)
n.2932G>C
Xg.18628431G>TCA412367201CDKL5c.2557G>T (p.Ala853Ser)
c.2680G>T (p.Ala894Ser)
c.2629G>T (p.Ala877Ser)
c.2548G>T (p.Ala850Ser)
n.2932G>T
Xg.18628432C>ACA412367207CDKL5c.2558C>A (p.Ala853Asp)
c.2681C>A (p.Ala894Asp)
c.2630C>A (p.Ala877Asp)
c.2549C>A (p.Ala850Asp)
n.2933C>A
Xg.18628432C>GCA412367209CDKL5c.2558C>G (p.Ala853Gly)
c.2681C>G (p.Ala894Gly)
c.2630C>G (p.Ala877Gly)
c.2549C>G (p.Ala850Gly)
n.2933C>G
Xg.18628432C>TCA412367205CDKL5c.2558C>T (p.Ala853Val)
c.2681C>T (p.Ala894Val)
c.2630C>T (p.Ala877Val)
c.2549C>T (p.Ala850Val)
n.2933C>T
Xg.18628433T>ACA515470589CDKL5c.2559T>A (p.Ala853=)
c.2682T>A (p.Ala894=)
c.2631T>A (p.Ala877=)
c.2550T>A (p.Ala850=)
n.2934T>A
Xg.18628433T>CCA515470590CDKL5c.2559T>C (p.Ala853=)
c.2682T>C (p.Ala894=)
c.2631T>C (p.Ala877=)
c.2550T>C (p.Ala850=)
n.2934T>C
Xg.18628433T>GCA515470591CDKL5c.2559T>G (p.Ala853=)
c.2682T>G (p.Ala894=)
c.2631T>G (p.Ala877=)
c.2550T>G (p.Ala850=)
n.2934T>G
Xg.18628434T>ACA412367212CDKL5c.2560T>A (p.Ser854Thr)
c.2683T>A (p.Ser895Thr)
c.2632T>A (p.Ser878Thr)
c.2551T>A (p.Ser851Thr)
n.2935T>A
Xg.18628434T>CCA412367214CDKL5c.2560T>C (p.Ser854Pro)
c.2683T>C (p.Ser895Pro)
c.2632T>C (p.Ser878Pro)
c.2551T>C (p.Ser851Pro)
n.2935T>C
Xg.18628434T>GCA412367216CDKL5c.2560T>G (p.Ser854Ala)
c.2683T>G (p.Ser895Ala)
c.2632T>G (p.Ser878Ala)
c.2551T>G (p.Ser851Ala)
n.2935T>G
Xg.18628435C>ACA412367219CDKL5c.2561C>A (p.Ser854Tyr)
c.2684C>A (p.Ser895Tyr)
c.2633C>A (p.Ser878Tyr)
c.2552C>A (p.Ser851Tyr)
n.2936C>A
Xg.18628435C>GCA412367221CDKL5c.2561C>G (p.Ser854Cys)
c.2684C>G (p.Ser895Cys)
c.2633C>G (p.Ser878Cys)
c.2552C>G (p.Ser851Cys)
n.2936C>G
Xg.18628435C>TCA412367223CDKL5c.2561C>T (p.Ser854Phe)
c.2684C>T (p.Ser895Phe)
c.2633C>T (p.Ser878Phe)
c.2552C>T (p.Ser851Phe)
n.2936C>T
Xg.18628436C>ACA515470592CDKL5c.2562C>A (p.Ser854=)
c.2685C>A (p.Ser895=)
c.2634C>A (p.Ser878=)
c.2553C>A (p.Ser851=)
n.2937C>A
Xg.18628436C>GCA515470593CDKL5c.2562C>G (p.Ser854=)
c.2685C>G (p.Ser895=)
c.2634C>G (p.Ser878=)
c.2553C>G (p.Ser851=)
n.2937C>G
Xg.18628436C>TCA515470594CDKL5c.2562C>T (p.Ser854=)
c.2685C>T (p.Ser895=)
c.2634C>T (p.Ser878=)
c.2553C>T (p.Ser851=)
n.2937C>T
Xg.18628437T>ACA412367231CDKL5c.2563T>A (p.Ser855Thr)
c.2686T>A (p.Ser896Thr)
c.2635T>A (p.Ser879Thr)
c.2554T>A (p.Ser852Thr)
n.2938T>A
Xg.18628437T>CCA412367226CDKL5c.2563T>C (p.Ser855Pro)
c.2686T>C (p.Ser896Pro)
c.2635T>C (p.Ser879Pro)
c.2554T>C (p.Ser852Pro)
n.2938T>C
Xg.18628437T>GCA412367229CDKL5c.2563T>G (p.Ser855Ala)
c.2686T>G (p.Ser896Ala)
c.2635T>G (p.Ser879Ala)
c.2554T>G (p.Ser852Ala)
n.2938T>G

Number of alleles fetched