UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18579818del | CA2579562777 | CDKL5 | c.283-30del (n.283-30del) c.151-30del (n.151-30del) n.535-30del | |
| X | g.18579820G= | CA2417966706 | CDKL5 | c.283-28G= (n.283-28G=) c.151-28G= (n.151-28G=) n.535-28G= | |
| X | g.18579820G>T | CA640509315 | CDKL5 | c.283-28G>T (n.283-28G>T) c.151-28G>T (n.151-28G>T) n.535-28G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579823A= | CA2417966707 | CDKL5 | c.283-25A= (n.283-25A=) c.151-25A= (n.151-25A=) n.535-25A= | |
| X | g.18579823A>G | CA10360241 | CDKL5 | c.283-25A>G (n.283-25A>G) c.151-25A>G (n.151-25A>G) n.535-25A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579827del | CA2579562778 | CDKL5 | c.283-21del (n.283-21del) c.151-21del (n.151-21del) n.535-21del | |
| X | g.18579827A= | CA2417966708 | CDKL5 | c.283-21A= (n.283-21A=) c.151-21A= (n.151-21A=) n.535-21A= | |
| X | g.18579827A>G | CA2417966709 | CDKL5 | c.283-21A>G (n.283-21A>G) c.151-21A>G (n.151-21A>G) n.535-21A>G | dbSNP gnomAD v4 |
| X | g.18579829G>T | CA2693221373 | CDKL5 | c.283-19G>T (n.283-19G>T) c.151-19G>T (n.151-19G>T) n.535-19G>T | gnomAD v4 |
| X | g.18579830A>T | CA2580100382 | CDKL5 | c.283-18A>T (n.283-18A>T) c.151-18A>T (n.151-18A>T) n.535-18A>T | ClinVar |
| X | g.18579830_18579832delinsACT | CA2417966710 | CDKL5 | c.283-18_283-16delinsACT (n.283-18_283-16delinsACT) c.151-18_151-16delinsACT (n.151-18_151-16delinsACT) n.535-18_535-16delinsACT | |
| X | g.18579831C>A | CA2693221374 | CDKL5 | c.283-17C>A (n.283-17C>A) c.151-17C>A (n.151-17C>A) n.535-17C>A | gnomAD v4 |
| X | g.18579833_18579834del | CA640509317 | CDKL5 | c.283-15_283-14del (n.283-15_283-14del) c.151-15_151-14del (n.151-15_151-14del) n.535-15_535-14del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579833C= | CA2417966712 | CDKL5 | c.283-15C= (n.283-15C=) c.151-15C= (n.151-15C=) n.535-15C= | |
| X | g.18579833C>G | CA10360243 | CDKL5 | c.283-15C>G (n.283-15C>G) c.151-15C>G (n.151-15C>G) n.535-15C>G | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.18579833C>T | CA10360242 | CDKL5 | c.283-15C>T (n.283-15C>T) c.151-15C>T (n.151-15C>T) n.535-15C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579833_18579835delinsCTA | CA2417966713 | CDKL5 | c.283-15_283-13delinsCTA (n.283-15_283-13delinsCTA) c.151-15_151-13delinsCTA (n.151-15_151-13delinsCTA) n.535-15_535-13delinsCTA | |
| X | g.18579833_18579837delinsCTATT | CA2417966711 | CDKL5 | c.283-15_283-11delinsCTATT (n.283-15_283-11delinsCTATT) c.151-15_151-11delinsCTATT (n.151-15_151-11delinsCTATT) n.535-15_535-11delinsCTATT | |
| X | g.18579834T>C | CA10360245 | CDKL5 | c.283-14T>C (n.283-14T>C) c.151-14T>C (n.151-14T>C) n.535-14T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579834T= | CA2417966714 | CDKL5 | c.283-14T= (n.283-14T=) c.151-14T= (n.151-14T=) n.535-14T= | |
| X | g.18579835_18579836del | CA873654161 | CDKL5 | c.283-13_283-12del (n.283-13_283-12del) c.151-13_151-12del (n.151-13_151-12del) n.535-13_535-12del | dbSNP |
| X | g.18579836_18579839del | CA10360244 | CDKL5 | c.283-12_283-9del (n.283-12_283-9del) c.151-12_151-9del (n.151-12_151-9del) n.535-12_535-9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579835del | CA2693221375 | CDKL5 | c.283-13del (n.283-13del) c.151-13del (n.151-13del) n.535-13del | gnomAD v4 |
| X | g.18579835A= | CA2417966715 | CDKL5 | c.283-13A= (n.283-13A=) c.151-13A= (n.151-13A=) n.535-13A= | |
| X | g.18579835A>G | CA171639 | CDKL5 | c.283-13A>G (n.283-13A>G) c.151-13A>G (n.151-13A>G) n.535-13A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579836T>C | CA290025 | CDKL5 | c.283-12T>C (n.283-12T>C) c.151-12T>C (n.151-12T>C) n.535-12T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579836T= | CA2417966716 | CDKL5 | c.283-12T= (n.283-12T=) c.151-12T= (n.151-12T=) n.535-12T= | |
| X | g.18579837T>G | CA873654177 | CDKL5 | c.283-11T>G (n.283-11T>G) c.151-11T>G (n.151-11T>G) n.535-11T>G | ClinVar dbSNP gnomAD v4 |
| X | g.18579837T= | CA2417966717 | CDKL5 | c.283-11T= (n.283-11T=) c.151-11T= (n.151-11T=) n.535-11T= | |
| X | g.18579839A>T | CA2693221376 | CDKL5 | c.283-9A>T (n.283-9A>T) c.151-9A>T (n.151-9A>T) n.535-9A>T | gnomAD v4 |
| X | g.18579840A>G | CA2740092039 | CDKL5 | c.283-8A>G (n.283-8A>G) c.151-8A>G (n.151-8A>G) n.535-8A>G | ClinVar |
| X | g.18579841T>A | CA326983414 | CDKL5 | c.283-7T>A (n.283-7T>A) c.151-7T>A (n.151-7T>A) n.535-7T>A | dbSNP gnomAD v4 |
| X | g.18579841T= | CA2417966718 | CDKL5 | c.283-7T= (n.283-7T=) c.151-7T= (n.151-7T=) n.535-7T= | |
| X | g.18579843T>C | CA2417966721 | CDKL5 | c.283-5T>C (n.283-5T>C) c.151-5T>C (n.151-5T>C) n.535-5T>C | dbSNP gnomAD v4 |
| X | g.18579843T= | CA2417966720 | CDKL5 | c.283-5T= (n.283-5T=) c.151-5T= (n.151-5T=) n.535-5T= | |
| X | g.18579843_18579854delinsTTTAGAATATGC | CA2417966719 | CDKL5 | c.283-5_289delinsTTTAGAATATGC c.151-5_157delinsTTTAGAATATGC n.535-5_541delinsTTTAGAATATGC | |
| X | g.18579845_18579855del | CA199397 | CDKL5 | c.283-3_290del c.151-3_158del n.535-3_542del | ClinVar dbSNP |
| X | g.18579846A>C | CA412349702 | CDKL5 | c.283-2A>C (n.283-2A>C) c.151-2A>C (n.151-2A>C) n.535-2A>C | |
| X | g.18579846A>G | CA412349705 | CDKL5 | c.283-2A>G (n.283-2A>G) c.151-2A>G (n.151-2A>G) n.535-2A>G | |
| X | g.18579846A>T | CA412349706 | CDKL5 | c.283-2A>T (n.283-2A>T) c.151-2A>T (n.151-2A>T) n.535-2A>T | |
| X | g.18579847G>A | CA412349709 | CDKL5 | c.283-1G>A (n.283-1G>A) c.151-1G>A (n.151-1G>A) n.535-1G>A | |
| X | g.18579847G>C | CA412349710 | CDKL5 | c.283-1G>C (n.283-1G>C) c.151-1G>C (n.151-1G>C) n.535-1G>C | |
| X | g.18579847G>T | CA412349712 | CDKL5 | c.283-1G>T (n.283-1G>T) c.151-1G>T (n.151-1G>T) n.535-1G>T | |
| X | g.18579848A>C | CA412349715 | CDKL5 | c.283A>C (p.Asn95His) c.151A>C (p.Asn51His) n.535A>C | |
| X | g.18579848A>G | CA412349716 | CDKL5 | c.283A>G (p.Asn95Asp) c.151A>G (p.Asn51Asp) n.535A>G | |
| X | g.18579848A>T | CA412349718 | CDKL5 | c.283A>T (p.Asn95Tyr) c.151A>T (p.Asn51Tyr) n.535A>T | |
| X | g.18579849A>C | CA412349720 | CDKL5 | c.284A>C (p.Asn95Thr) c.152A>C (p.Asn51Thr) n.536A>C | |
| X | g.18579849A>G | CA412349721 | CDKL5 | c.284A>G (p.Asn95Ser) c.152A>G (p.Asn51Ser) n.536A>G | |
| X | g.18579849A>T | CA412349722 | CDKL5 | c.284A>T (p.Asn95Ile) c.152A>T (p.Asn51Ile) n.536A>T | |
| X | g.18579850T>A | CA412349726 | CDKL5 | c.285T>A (p.Asn95Lys) c.153T>A (p.Asn51Lys) n.537T>A | |
| X | g.18579850T>C | CA515470064 | CDKL5 | c.285T>C (p.Asn95=) c.153T>C (p.Asn51=) n.537T>C | |
| X | g.18579850T>G | CA412349724 | CDKL5 | c.285T>G (p.Asn95Lys) c.153T>G (p.Asn51Lys) n.537T>G | |
| X | g.18579851A>C | CA412349729 | CDKL5 | c.286A>C (p.Met96Leu) c.154A>C (p.Met52Leu) n.538A>C | |
| X | g.18579851A>G | CA412349731 | CDKL5 | c.286A>G (p.Met96Val) c.154A>G (p.Met52Val) n.538A>G | |
| X | g.18579851A>T | CA412349734 | CDKL5 | c.286A>T (p.Met96Leu) c.154A>T (p.Met52Leu) n.538A>T | |
| X | g.18579852T>A | CA412349738 | CDKL5 | c.287T>A (p.Met96Lys) c.155T>A (p.Met52Lys) n.539T>A | |
| X | g.18579852T>C | CA412349741 | CDKL5 | c.287T>C (p.Met96Thr) c.155T>C (p.Met52Thr) n.539T>C | |
| X | g.18579852T>G | CA412349743 | CDKL5 | c.287T>G (p.Met96Arg) c.155T>G (p.Met52Arg) n.539T>G | |
| X | g.18579853G>A | CA412349747 | CDKL5 | c.288G>A (p.Met96Ile) c.156G>A (p.Met52Ile) n.540G>A | |
| X | g.18579853G>C | CA412349750 | CDKL5 | c.288G>C (p.Met96Ile) c.156G>C (p.Met52Ile) n.540G>C | |
| X | g.18579853G>T | CA412349753 | CDKL5 | c.288G>T (p.Met96Ile) c.156G>T (p.Met52Ile) n.540G>T | |
| X | g.18579854C>A | CA412349756 | CDKL5 | c.289C>A (p.Leu97Ile) c.157C>A (p.Leu53Ile) n.541C>A | |
| X | g.18579854C>G | CA412349758 | CDKL5 | c.289C>G (p.Leu97Val) c.157C>G (p.Leu53Val) n.541C>G | |
| X | g.18579854C>T | CA412349760 | CDKL5 | c.289C>T (p.Leu97Phe) c.157C>T (p.Leu53Phe) n.541C>T | gnomAD v4 |
| X | g.18579855T>A | CA412349772 | CDKL5 | c.290T>A (p.Leu97His) c.158T>A (p.Leu53His) n.542T>A | |
| X | g.18579855T>C | CA412349776 | CDKL5 | c.290T>C (p.Leu97Pro) c.158T>C (p.Leu53Pro) n.542T>C | ClinVar dbSNP |
| X | g.18579855T>G | CA412349770 | CDKL5 | c.290T>G (p.Leu97Arg) c.158T>G (p.Leu53Arg) n.542T>G | |
| X | g.18579855T= | CA2417966722 | CDKL5 | c.290T= (p.Leu97=) c.158T= (p.Leu53=) n.542T= | |
| X | g.18579856C>A | CA515470066 | CDKL5 | c.291C>A (p.Leu97=) c.159C>A (p.Leu53=) n.543C>A | gnomAD v4 |
| X | g.18579856C= | CA2417966723 | CDKL5 | c.291C= (p.Leu97=) c.159C= (p.Leu53=) n.543C= | |
| X | g.18579856C>G | CA515470065 | CDKL5 | c.291C>G (p.Leu97=) c.159C>G (p.Leu53=) n.543C>G | ClinVar dbSNP gnomAD v4 |
| X | g.18579856C>T | CA10360246 | CDKL5 | c.291C>T (p.Leu97=) c.159C>T (p.Leu53=) n.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579857G>A | CA412349784 | CDKL5 | c.292G>A (p.Glu98Lys) c.160G>A (p.Glu54Lys) n.544G>A | gnomAD v4 COSMIC |
| X | g.18579857G>C | CA412349787 | CDKL5 | c.292G>C (p.Glu98Gln) c.160G>C (p.Glu54Gln) n.544G>C | |
| X | g.18579857G>T | CA412349790 | CDKL5 | c.292G>T (p.Glu98Ter) c.160G>T (p.Glu54Ter) n.544G>T | ClinVar dbSNP gnomAD v4 |
| X | g.18579858A>C | CA412349799 | CDKL5 | c.293A>C (p.Glu98Ala) c.161A>C (p.Glu54Ala) n.545A>C | |
| X | g.18579858A>G | CA412349796 | CDKL5 | c.293A>G (p.Glu98Gly) c.161A>G (p.Glu54Gly) n.545A>G | |
| X | g.18579858A>T | CA412349793 | CDKL5 | c.293A>T (p.Glu98Val) c.161A>T (p.Glu54Val) n.545A>T | |
| X | g.18579859A>C | CA412349802 | CDKL5 | c.294A>C (p.Glu98Asp) c.162A>C (p.Glu54Asp) n.546A>C | |
| X | g.18579859A>G | CA515470067 | CDKL5 | c.294A>G (p.Glu98=) c.162A>G (p.Glu54=) n.546A>G | |
| X | g.18579859A>T | CA412349805 | CDKL5 | c.294A>T (p.Glu98Asp) c.162A>T (p.Glu54Asp) n.546A>T | |
| X | g.18579860T>A | CA412349809 | CDKL5 | c.295T>A (p.Leu99Met) c.163T>A (p.Leu55Met) n.547T>A | |
| X | g.18579860T>C | CA515470068 | CDKL5 | c.295T>C (p.Leu99=) c.163T>C (p.Leu55=) n.547T>C | ClinVar dbSNP |
| X | g.18579860T>G | CA412349811 | CDKL5 | c.295T>G (p.Leu99Val) c.163T>G (p.Leu55Val) n.547T>G | |
| X | g.18579861T>A | CA412349816 | CDKL5 | c.296T>A (p.Leu99Ter) c.164T>A (p.Leu55Ter) n.548T>A | |
| X | g.18579861T>C | CA412349818 | CDKL5 | c.296T>C (p.Leu99Ser) c.164T>C (p.Leu55Ser) n.548T>C | |
| X | g.18579861T>G | CA412349821 | CDKL5 | c.296T>G (p.Leu99Trp) c.164T>G (p.Leu55Trp) n.548T>G | |
| X | g.18579862G>A | CA515470069 | CDKL5 | c.297G>A (p.Leu99=) c.165G>A (p.Leu55=) n.549G>A | |
| X | g.18579862G>C | CA412349824 | CDKL5 | c.297G>C (p.Leu99Phe) c.165G>C (p.Leu55Phe) n.549G>C | |
| X | g.18579862G>T | CA412349826 | CDKL5 | c.297G>T (p.Leu99Phe) c.165G>T (p.Leu55Phe) n.549G>T | |
| X | g.18579863C>A | CA412349830 | CDKL5 | c.298C>A (p.Leu100Met) c.166C>A (p.Leu56Met) n.550C>A | |
| X | g.18579863C>G | CA412349832 | CDKL5 | c.298C>G (p.Leu100Val) c.166C>G (p.Leu56Val) n.550C>G | |
| X | g.18579863C>T | CA515470070 | CDKL5 | c.298C>T (p.Leu100=) c.166C>T (p.Leu56=) n.550C>T | |
| X | g.18579864T>A | CA412349834 | CDKL5 | c.299T>A (p.Leu100Gln) c.167T>A (p.Leu56Gln) n.551T>A | |
| X | g.18579864T>C | CA412349835 | CDKL5 | c.299T>C (p.Leu100Pro) c.167T>C (p.Leu56Pro) n.551T>C | |
| X | g.18579864T>G | CA412349838 | CDKL5 | c.299T>G (p.Leu100Arg) c.167T>G (p.Leu56Arg) n.551T>G | |
| X | g.18579865G>A | CA515470071 | CDKL5 | c.300G>A (p.Leu100=) c.168G>A (p.Leu56=) n.552G>A | |
| X | g.18579865G>C | CA515470072 | CDKL5 | c.300G>C (p.Leu100=) c.168G>C (p.Leu56=) n.552G>C | |
| X | g.18579865G>T | CA515470073 | CDKL5 | c.300G>T (p.Leu100=) c.168G>T (p.Leu56=) n.552G>T | |
| X | g.18579866G>A | CA412349842 | CDKL5 | c.301G>A (p.Glu101Lys) c.169G>A (p.Glu57Lys) n.553G>A | |
| X | g.18579866G>C | CA412349844 | CDKL5 | c.301G>C (p.Glu101Gln) c.169G>C (p.Glu57Gln) n.553G>C | |
| X | g.18579866G>T | CA412349846 | CDKL5 | c.301G>T (p.Glu101Ter) c.169G>T (p.Glu57Ter) n.553G>T | COSMIC |
| X | g.18579866_18579871del | CA2563639519 | CDKL5 | c.301_306del (p.Glu101_Glu102del) c.169_174del (p.Glu57_Glu58del) n.553_558del | |
| X | g.18579867A>C | CA412349850 | CDKL5 | c.302A>C (p.Glu101Ala) c.170A>C (p.Glu57Ala) n.554A>C | |
| X | g.18579867A>G | CA412349853 | CDKL5 | c.302A>G (p.Glu101Gly) c.170A>G (p.Glu57Gly) n.554A>G | |
| X | g.18579867A>T | CA412349856 | CDKL5 | c.302A>T (p.Glu101Val) c.170A>T (p.Glu57Val) n.554A>T | |
| X | g.18579868A>C | CA412349859 | CDKL5 | c.303A>C (p.Glu101Asp) c.171A>C (p.Glu57Asp) n.555A>C | |
| X | g.18579868A>G | CA515470074 | CDKL5 | c.303A>G (p.Glu101=) c.171A>G (p.Glu57=) n.555A>G | |
| X | g.18579868A>T | CA412349862 | CDKL5 | c.303A>T (p.Glu101Asp) c.171A>T (p.Glu57Asp) n.555A>T | |
| X | g.18579869G>A | CA326983419 | CDKL5 | c.304G>A (p.Glu102Lys) c.172G>A (p.Glu58Lys) n.556G>A | dbSNP |
| X | g.18579869G>C | CA412349865 | CDKL5 | c.304G>C (p.Glu102Gln) c.172G>C (p.Glu58Gln) n.556G>C | |
| X | g.18579869G= | CA2417966724 | CDKL5 | c.304G= (p.Glu102=) c.172G= (p.Glu58=) n.556G= | |
| X | g.18579869G>T | CA412349868 | CDKL5 | c.304G>T (p.Glu102Ter) c.172G>T (p.Glu58Ter) n.556G>T | |
| X | g.18579870A>C | CA412349874 | CDKL5 | c.305A>C (p.Glu102Ala) c.173A>C (p.Glu58Ala) n.557A>C | |
| X | g.18579870A>G | CA412349875 | CDKL5 | c.305A>G (p.Glu102Gly) c.173A>G (p.Glu58Gly) n.557A>G | |
| X | g.18579870A>T | CA412349878 | CDKL5 | c.305A>T (p.Glu102Val) c.173A>T (p.Glu58Val) n.557A>T | |
| X | g.18579871A>C | CA412349881 | CDKL5 | c.306A>C (p.Glu102Asp) c.174A>C (p.Glu58Asp) n.558A>C | |
| X | g.18579871A>G | CA515470075 | CDKL5 | c.306A>G (p.Glu102=) c.174A>G (p.Glu58=) n.558A>G | |
| X | g.18579871A>T | CA412349883 | CDKL5 | c.306A>T (p.Glu102Asp) c.174A>T (p.Glu58Asp) n.558A>T | |
| X | g.18579872A>C | CA412349886 | CDKL5 | c.307A>C (p.Met103Leu) c.175A>C (p.Met59Leu) n.559A>C | |
| X | g.18579872A>G | CA412349889 | CDKL5 | c.307A>G (p.Met103Val) c.175A>G (p.Met59Val) n.559A>G | |
| X | g.18579872A>T | CA412349891 | CDKL5 | c.307A>T (p.Met103Leu) c.175A>T (p.Met59Leu) n.559A>T | |
| X | g.18579873del | CA2573158448 | CDKL5 | c.308del (p.Met103SerfsTer10) c.176del (p.Met59SerfsTer10) n.560del | ClinVar dbSNP |
| X | g.18579873T>A | CA412349896 | CDKL5 | c.308T>A (p.Met103Lys) c.176T>A (p.Met59Lys) n.560T>A | |
| X | g.18579873T>C | CA412349898 | CDKL5 | c.308T>C (p.Met103Thr) c.176T>C (p.Met59Thr) n.560T>C | |
| X | g.18579873T>G | CA412349900 | CDKL5 | c.308T>G (p.Met103Arg) c.176T>G (p.Met59Arg) n.560T>G | |
| X | g.18579874G>A | CA412349905 | CDKL5 | c.309G>A (p.Met103Ile) c.177G>A (p.Met59Ile) n.561G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579874G>C | CA412349907 | CDKL5 | c.309G>C (p.Met103Ile) c.177G>C (p.Met59Ile) n.561G>C | |
| X | g.18579874G= | CA2417966725 | CDKL5 | c.309G= (p.Met103=) c.177G= (p.Met59=) n.561G= | |
| X | g.18579874G>T | CA412349903 | CDKL5 | c.309G>T (p.Met103Ile) c.177G>T (p.Met59Ile) n.561G>T | |
| X | g.18579875C>A | CA412349911 | CDKL5 | c.310C>A (p.Pro104Thr) c.178C>A (p.Pro60Thr) n.562C>A | ClinVar dbSNP |
| X | g.18579875C= | CA2417966726 | CDKL5 | c.310C= (p.Pro104=) c.178C= (p.Pro60=) n.562C= | |
| X | g.18579875C>G | CA412349913 | CDKL5 | c.310C>G (p.Pro104Ala) c.178C>G (p.Pro60Ala) n.562C>G | |
| X | g.18579875C>T | CA412349914 | CDKL5 | c.310C>T (p.Pro104Ser) c.178C>T (p.Pro60Ser) n.562C>T | dbSNP |
| X | g.18579876C>A | CA412349917 | CDKL5 | c.311C>A (p.Pro104Gln) c.179C>A (p.Pro60Gln) n.563C>A | |
| X | g.18579876C>G | CA412349920 | CDKL5 | c.311C>G (p.Pro104Arg) c.179C>G (p.Pro60Arg) n.563C>G | |
| X | g.18579876C>T | CA412349922 | CDKL5 | c.311C>T (p.Pro104Leu) c.179C>T (p.Pro60Leu) n.563C>T | |
| X | g.18579877A= | CA2417966727 | CDKL5 | c.312A= (p.Pro104=) c.180A= (p.Pro60=) n.564A= | |
| X | g.18579877A>C | CA515470076 | CDKL5 | c.312A>C (p.Pro104=) c.180A>C (p.Pro60=) n.564A>C | |
| X | g.18579877A>G | CA515470078 | CDKL5 | c.312A>G (p.Pro104=) c.180A>G (p.Pro60=) n.564A>G | dbSNP gnomAD v4 |
| X | g.18579877A>T | CA515470077 | CDKL5 | c.312A>T (p.Pro104=) c.180A>T (p.Pro60=) n.564A>T | |
| X | g.18579878_18579879del | CA2534710230 | CDKL5 | c.313_314del (p.Asn105TrpfsTer5) c.181_182del (p.Asn61TrpfsTer5) n.565_566del | |
| X | g.18579878A>C | CA412349931 | CDKL5 | c.313A>C (p.Asn105His) c.181A>C (p.Asn61His) n.565A>C | |
| X | g.18579878A>G | CA412349925 | CDKL5 | c.313A>G (p.Asn105Asp) c.181A>G (p.Asn61Asp) n.565A>G | |
| X | g.18579878A>T | CA412349928 | CDKL5 | c.313A>T (p.Asn105Tyr) c.181A>T (p.Asn61Tyr) n.565A>T | |
| X | g.18579879A>C | CA412349934 | CDKL5 | c.314A>C (p.Asn105Thr) c.182A>C (p.Asn61Thr) n.566A>C | |
| X | g.18579879A>G | CA412349937 | CDKL5 | c.314A>G (p.Asn105Ser) c.182A>G (p.Asn61Ser) n.566A>G | |
| X | g.18579879A>T | CA412349939 | CDKL5 | c.314A>T (p.Asn105Ile) c.182A>T (p.Asn61Ile) n.566A>T | |
| X | g.18579880T>A | CA412349943 | CDKL5 | c.315T>A (p.Asn105Lys) c.183T>A (p.Asn61Lys) n.567T>A | |
| X | g.18579880T>C | CA515470079 | CDKL5 | c.315T>C (p.Asn105=) c.183T>C (p.Asn61=) n.567T>C | |
| X | g.18579880T>G | CA412349946 | CDKL5 | c.315T>G (p.Asn105Lys) c.183T>G (p.Asn61Lys) n.567T>G | |
| X | g.18579881G>A | CA412349949 | CDKL5 | c.316G>A (p.Gly106Arg) c.184G>A (p.Gly62Arg) n.568G>A | |
| X | g.18579881G>C | CA412349954 | CDKL5 | c.316G>C (p.Gly106Arg) c.184G>C (p.Gly62Arg) n.568G>C | |
| X | g.18579881G>T | CA412349951 | CDKL5 | c.316G>T (p.Gly106Ter) c.184G>T (p.Gly62Ter) n.568G>T | |
| X | g.18579881_18579884del | CA2521672345 | CDKL5 | c.316_319del (p.Gly106PhefsTer6) c.184_187del (p.Gly62PhefsTer6) n.568_571del | |
| X | g.18579882G>A | CA412349959 | CDKL5 | c.317G>A (p.Gly106Glu) c.185G>A (p.Gly62Glu) n.569G>A | ClinVar |
| X | g.18579882G>C | CA412349961 | CDKL5 | c.317G>C (p.Gly106Ala) c.185G>C (p.Gly62Ala) n.569G>C | |
| X | g.18579882G>T | CA412349965 | CDKL5 | c.317G>T (p.Gly106Val) c.185G>T (p.Gly62Val) n.569G>T | |
| X | g.18579883A>C | CA515470080 | CDKL5 | c.318A>C (p.Gly106=) c.186A>C (p.Gly62=) n.570A>C | |
| X | g.18579883A>G | CA515470081 | CDKL5 | c.318A>G (p.Gly106=) c.186A>G (p.Gly62=) n.570A>G | |
| X | g.18579883A>T | CA515470082 | CDKL5 | c.318A>T (p.Gly106=) c.186A>T (p.Gly62=) n.570A>T | |
| X | g.18579884G>A | CA412349969 | CDKL5 | c.319G>A (p.Val107Ile) c.187G>A (p.Val63Ile) n.571G>A | |
| X | g.18579884G>C | CA412349971 | CDKL5 | c.319G>C (p.Val107Leu) c.187G>C (p.Val63Leu) n.571G>C | |
| X | g.18579884G>T | CA412349973 | CDKL5 | c.319G>T (p.Val107Phe) c.187G>T (p.Val63Phe) n.571G>T | |
| X | g.18579885T>A | CA294589 | CDKL5 | c.320T>A (p.Val107Asp) c.188T>A (p.Val63Asp) n.572T>A | dbSNP |
| X | g.18579885T>C | CA412349976 | CDKL5 | c.320T>C (p.Val107Ala) c.188T>C (p.Val63Ala) n.572T>C | gnomAD v4 |
| X | g.18579885T>G | CA412349979 | CDKL5 | c.320T>G (p.Val107Gly) c.188T>G (p.Val63Gly) n.572T>G | |
| X | g.18579885T= | CA2417966728 | CDKL5 | c.320T= (p.Val107=) c.188T= (p.Val63=) n.572T= | |
| X | g.18579886T>A | CA515470083 | CDKL5 | c.321T>A (p.Val107=) c.189T>A (p.Val63=) n.573T>A | |
| X | g.18579886T>C | CA515470084 | CDKL5 | c.321T>C (p.Val107=) c.189T>C (p.Val63=) n.573T>C | |
| X | g.18579886T>G | CA515470085 | CDKL5 | c.321T>G (p.Val107=) c.189T>G (p.Val63=) n.573T>G | |
| X | g.18579887C>A | CA412349981 | CDKL5 | c.322C>A (p.Pro108Thr) c.190C>A (p.Pro64Thr) n.574C>A | |
| X | g.18579887C>G | CA412349983 | CDKL5 | c.322C>G (p.Pro108Ala) c.190C>G (p.Pro64Ala) n.574C>G | ClinVar |
| X | g.18579887C>T | CA412349985 | CDKL5 | c.322C>T (p.Pro108Ser) c.190C>T (p.Pro64Ser) n.574C>T | |
| X | g.18579887_18579888del | CA2569774405 | CDKL5 | c.322_323del (p.Pro108ThrfsTer2) c.190_191del (p.Pro64ThrfsTer2) n.574_575del | |
| X | g.18579888del | CA2693221377 | CDKL5 | c.323del (p.Pro108HisfsTer5) c.191del (p.Pro64HisfsTer5) n.575del | gnomAD v4 |
| X | g.18579888C>A | CA412349990 | CDKL5 | c.323C>A (p.Pro108Gln) c.191C>A (p.Pro64Gln) n.575C>A | |
| X | g.18579888C>G | CA412349993 | CDKL5 | c.323C>G (p.Pro108Arg) c.191C>G (p.Pro64Arg) n.575C>G | |
| X | g.18579888C>T | CA412349987 | CDKL5 | c.323C>T (p.Pro108Leu) c.191C>T (p.Pro64Leu) n.575C>T | |
| X | g.18579889A>C | CA515470086 | CDKL5 | c.324A>C (p.Pro108=) c.192A>C (p.Pro64=) n.576A>C | |
| X | g.18579889A>G | CA515470087 | CDKL5 | c.324A>G (p.Pro108=) c.192A>G (p.Pro64=) n.576A>G | gnomAD v4 |
| X | g.18579889A>T | CA515470088 | CDKL5 | c.324A>T (p.Pro108=) c.192A>T (p.Pro64=) n.576A>T | |
| X | g.18579890C>A | CA412349996 | CDKL5 | c.325C>A (p.Pro109Thr) c.193C>A (p.Pro65Thr) n.577C>A | |
| X | g.18579890C>G | CA412349999 | CDKL5 | c.325C>G (p.Pro109Ala) c.193C>G (p.Pro65Ala) n.577C>G | |
| X | g.18579890C>T | CA412350002 | CDKL5 | c.325C>T (p.Pro109Ser) c.193C>T (p.Pro65Ser) n.577C>T | |
| X | g.18579890_18579891del | CA2559486819 | CDKL5 | c.325_326del (p.Pro109Ter) c.193_194del (p.Pro65Ter) n.577_578del | |
| X | g.18579891C>A | CA412350005 | CDKL5 | c.326C>A (p.Pro109His) c.194C>A (p.Pro65His) n.578C>A | |
| X | g.18579891C>G | CA412350008 | CDKL5 | c.326C>G (p.Pro109Arg) c.194C>G (p.Pro65Arg) n.578C>G | |
| X | g.18579891C>T | CA412350011 | CDKL5 | c.326C>T (p.Pro109Leu) c.194C>T (p.Pro65Leu) n.578C>T | |
| X | g.18579892T>A | CA10360247 | CDKL5 | c.327T>A (p.Pro109=) c.195T>A (p.Pro65=) n.579T>A | dbSNP ExAC gnomAD v2 |
| X | g.18579892T>C | CA515470089 | CDKL5 | c.327T>C (p.Pro109=) c.195T>C (p.Pro65=) n.579T>C | gnomAD v4 |
| X | g.18579892T>G | CA515470090 | CDKL5 | c.327T>G (p.Pro109=) c.195T>G (p.Pro65=) n.579T>G | |
| X | g.18579892T= | CA2417966729 | CDKL5 | c.327T= (p.Pro109=) c.195T= (p.Pro65=) n.579T= | |
| X | g.18579893G>A | CA412350016 | CDKL5 | c.328G>A (p.Glu110Lys) c.196G>A (p.Glu66Lys) n.580G>A | |
| X | g.18579893G>C | CA412350023 | CDKL5 | c.328G>C (p.Glu110Gln) c.196G>C (p.Glu66Gln) n.580G>C | |
| X | g.18579893G>T | CA412350019 | CDKL5 | c.328G>T (p.Glu110Ter) c.196G>T (p.Glu66Ter) n.580G>T | |
| X | g.18579894A>C | CA412350026 | CDKL5 | c.329A>C (p.Glu110Ala) c.197A>C (p.Glu66Ala) n.581A>C | |
| X | g.18579894A>G | CA412350029 | CDKL5 | c.329A>G (p.Glu110Gly) c.197A>G (p.Glu66Gly) n.581A>G | |
| X | g.18579894A>T | CA412350032 | CDKL5 | c.329A>T (p.Glu110Val) c.197A>T (p.Glu66Val) n.581A>T | |
| X | g.18579894_18579895insC | CA2561948146 | CDKL5 | c.329_330insC (p.Glu110AspfsTer19) c.197_198insC (p.Glu66AspfsTer19) n.581_582insC | |
| X | g.18579894_18579895insCG | CA2568789978 | CDKL5 | c.329_330insCG (p.Glu110AspfsTer4) c.197_198insCG (p.Glu66AspfsTer4) n.581_582insCG | |
| X | g.18579895G>A | CA515470091 | CDKL5 | c.330G>A (p.Glu110=) c.198G>A (p.Glu66=) n.582G>A | |
| X | g.18579895G>C | CA412350035 | CDKL5 | c.330G>C (p.Glu110Asp) c.198G>C (p.Glu66Asp) n.582G>C | |
| X | g.18579895G>T | CA412350037 | CDKL5 | c.330G>T (p.Glu110Asp) c.198G>T (p.Glu66Asp) n.582G>T | gnomAD v4 |
| X | g.18579896A>C | CA412350042 | CDKL5 | c.331A>C (p.Lys111Gln) c.199A>C (p.Lys67Gln) n.583A>C | |
| X | g.18579896A>G | CA412350046 | CDKL5 | c.331A>G (p.Lys111Glu) c.199A>G (p.Lys67Glu) n.583A>G | |
| X | g.18579896A>T | CA412350045 | CDKL5 | c.331A>T (p.Lys111Ter) c.199A>T (p.Lys67Ter) n.583A>T | |
| X | g.18579897A>C | CA412350049 | CDKL5 | c.332A>C (p.Lys111Thr) c.200A>C (p.Lys67Thr) n.584A>C | |
| X | g.18579897A>G | CA412350051 | CDKL5 | c.332A>G (p.Lys111Arg) c.200A>G (p.Lys67Arg) n.584A>G | |
| X | g.18579897A>T | CA412350054 | CDKL5 | c.332A>T (p.Lys111Ile) c.200A>T (p.Lys67Ile) n.584A>T | |
| X | g.18579897_18579899del | CA2539271137 | CDKL5 | c.332_334del (p.Lys111_Val112delinsIle) c.200_202del (p.Lys67_Val68delinsIle) n.584_586del | |
| X | g.18579898A= | CA2417966730 | CDKL5 | c.333A= (p.Lys111=) c.201A= (p.Lys67=) n.585A= | |
| X | g.18579898A>C | CA412350056 | CDKL5 | c.333A>C (p.Lys111Asn) c.201A>C (p.Lys67Asn) n.585A>C | |
| X | g.18579898A>G | CA199344 | CDKL5 | c.333A>G (p.Lys111=) c.201A>G (p.Lys67=) n.585A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579898A>T | CA412350059 | CDKL5 | c.333A>T (p.Lys111Asn) c.201A>T (p.Lys67Asn) n.585A>T | |
| X | g.18579899G>A | CA412350061 | CDKL5 | c.334G>A (p.Val112Ile) c.202G>A (p.Val68Ile) n.586G>A | |
| X | g.18579899G>C | CA412350063 | CDKL5 | c.334G>C (p.Val112Leu) c.202G>C (p.Val68Leu) n.586G>C | |
| X | g.18579899G>T | CA412350064 | CDKL5 | c.334G>T (p.Val112Leu) c.202G>T (p.Val68Leu) n.586G>T | |
| X | g.18579900T>A | CA412350066 | CDKL5 | c.335T>A (p.Val112Glu) c.203T>A (p.Val68Glu) n.587T>A | |
| X | g.18579900T>C | CA412350068 | CDKL5 | c.335T>C (p.Val112Ala) c.203T>C (p.Val68Ala) n.587T>C | |
| X | g.18579900T>G | CA412350069 | CDKL5 | c.335T>G (p.Val112Gly) c.203T>G (p.Val68Gly) n.587T>G | |
| X | g.18579901A>C | CA515470094 | CDKL5 | c.336A>C (p.Val112=) c.204A>C (p.Val68=) n.588A>C | |
| X | g.18579901A>G | CA515470093 | CDKL5 | c.336A>G (p.Val112=) c.204A>G (p.Val68=) n.588A>G | |
| X | g.18579901A>T | CA515470092 | CDKL5 | c.336A>T (p.Val112=) c.204A>T (p.Val68=) n.588A>T | |
| X | g.18579901_18579906del | CA2523520944 | CDKL5 | c.336_341del (p.Lys113_Ser114del) c.204_209del (p.Lys69_Ser70del) n.588_593del | |
| X | g.18579902_18579911del | CA2552900098 | CDKL5 | c.337_346del (p.Lys113SerfsTer4) c.205_214del (p.Lys69SerfsTer4) n.589_598del | |
| X | g.18579902A>C | CA412350075 | CDKL5 | c.337A>C (p.Lys113Gln) c.205A>C (p.Lys69Gln) n.589A>C | |
| X | g.18579902A>G | CA412350072 | CDKL5 | c.337A>G (p.Lys113Glu) c.205A>G (p.Lys69Glu) n.589A>G | |
| X | g.18579902A>T | CA412350073 | CDKL5 | c.337A>T (p.Lys113Ter) c.205A>T (p.Lys69Ter) n.589A>T | |
| X | g.18579903A>C | CA412350077 | CDKL5 | c.338A>C (p.Lys113Thr) c.206A>C (p.Lys69Thr) n.590A>C | |
| X | g.18579903A>G | CA412350079 | CDKL5 | c.338A>G (p.Lys113Arg) c.206A>G (p.Lys69Arg) n.590A>G | |
| X | g.18579903A>T | CA412350080 | CDKL5 | c.338A>T (p.Lys113Ile) c.206A>T (p.Lys69Ile) n.590A>T | |
| X | g.18579904A= | CA2417966731 | CDKL5 | c.339A= (p.Lys113=) c.207A= (p.Lys69=) n.591A= | |
| X | g.18579904A>C | CA412350082 | CDKL5 | c.339A>C (p.Lys113Asn) c.207A>C (p.Lys69Asn) n.591A>C | |
| X | g.18579904A>G | CA10360248 | CDKL5 | c.339A>G (p.Lys113=) c.207A>G (p.Lys69=) n.591A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579904A>T | CA412350084 | CDKL5 | c.339A>T (p.Lys113Asn) c.207A>T (p.Lys69Asn) n.591A>T | |
| X | g.18579905A>C | CA412350091 | CDKL5 | c.340A>C (p.Ser114Arg) c.208A>C (p.Ser70Arg) n.592A>C | |
| X | g.18579905A>G | CA412350087 | CDKL5 | c.340A>G (p.Ser114Gly) c.208A>G (p.Ser70Gly) n.592A>G | COSMIC |
| X | g.18579905A>T | CA412350088 | CDKL5 | c.340A>T (p.Ser114Cys) c.208A>T (p.Ser70Cys) n.592A>T | |
| X | g.18579906del | CA2695231282 | CDKL5 | c.341del (p.Ser114ThrfsTer6) c.209del (p.Ser70ThrfsTer6) n.593del | |
| X | g.18579906G>A | CA412350093 | CDKL5 | c.341G>A (p.Ser114Asn) c.209G>A (p.Ser70Asn) n.593G>A | |
| X | g.18579906G>C | CA412350095 | CDKL5 | c.341G>C (p.Ser114Thr) c.209G>C (p.Ser70Thr) n.593G>C | |
| X | g.18579906G>T | CA412350097 | CDKL5 | c.341G>T (p.Ser114Ile) c.209G>T (p.Ser70Ile) n.593G>T | |
| X | g.18579907C>A | CA412350099 | CDKL5 | c.342C>A (p.Ser114Arg) c.210C>A (p.Ser70Arg) n.594C>A | |
| X | g.18579907C>G | CA412350101 | CDKL5 | c.342C>G (p.Ser114Arg) c.210C>G (p.Ser70Arg) n.594C>G | |
| X | g.18579907C>T | CA515470095 | CDKL5 | c.342C>T (p.Ser114=) c.210C>T (p.Ser70=) n.594C>T | gnomAD v4 |
| X | g.18579908T>A | CA412350107 | CDKL5 | c.343T>A (p.Tyr115Asn) c.211T>A (p.Tyr71Asn) n.595T>A | ClinVar dbSNP |
| X | g.18579908T>C | CA412350104 | CDKL5 | c.343T>C (p.Tyr115His) c.211T>C (p.Tyr71His) n.595T>C | |
| X | g.18579908T>G | CA412350106 | CDKL5 | c.343T>G (p.Tyr115Asp) c.211T>G (p.Tyr71Asp) n.595T>G | |
| X | g.18579908T= | CA2417966732 | CDKL5 | c.343T= (p.Tyr115=) c.211T= (p.Tyr71=) n.595T= | |
| X | g.18579909A= | CA2417966733 | CDKL5 | c.344A= (p.Tyr115=) c.212A= (p.Tyr71=) n.596A= | |
| X | g.18579909A>C | CA412350110 | CDKL5 | c.344A>C (p.Tyr115Ser) c.212A>C (p.Tyr71Ser) n.596A>C | |
| X | g.18579909A>G | CA412350111 | CDKL5 | c.344A>G (p.Tyr115Cys) c.212A>G (p.Tyr71Cys) n.596A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579909A>T | CA412350113 | CDKL5 | c.344A>T (p.Tyr115Phe) c.212A>T (p.Tyr71Phe) n.596A>T | |
| X | g.18579909dup | CA2695231283 | CDKL5 | c.344dup (p.Tyr115Ter) c.212dup (p.Tyr71Ter) n.596dup | |
| X | g.18579909_18579927del | CA2570061514 | CDKL5 | c.344_362del (p.Tyr115TrpfsTer16) c.212_230del (p.Tyr71TrpfsTer16) n.596_614del | |
| X | g.18579910C>A | CA412350115 | CDKL5 | c.345C>A (p.Tyr115Ter) c.213C>A (p.Tyr71Ter) n.597C>A | |
| X | g.18579910C>G | CA412350117 | CDKL5 | c.345C>G (p.Tyr115Ter) c.213C>G (p.Tyr71Ter) n.597C>G | |
| X | g.18579910C>T | CA515470096 | CDKL5 | c.345C>T (p.Tyr115=) c.213C>T (p.Tyr71=) n.597C>T | gnomAD v4 |
| X | g.18579911A= | CA2417966734 | CDKL5 | c.346A= (p.Ile116=) c.214A= (p.Ile72=) n.598A= | |
| X | g.18579911A>C | CA412350119 | CDKL5 | c.346A>C (p.Ile116Leu) c.214A>C (p.Ile72Leu) n.598A>C | |
| X | g.18579911A>G | CA412350122 | CDKL5 | c.346A>G (p.Ile116Val) c.214A>G (p.Ile72Val) n.598A>G | dbSNP gnomAD v4 |
| X | g.18579911A>T | CA412350123 | CDKL5 | c.346A>T (p.Ile116Phe) c.214A>T (p.Ile72Phe) n.598A>T | |
| X | g.18579914_18579917del | CA2573158449 | CDKL5 | c.349_352del (p.Tyr117SerfsTer2) c.217_220del (p.Tyr73SerfsTer2) n.601_604del | ClinVar dbSNP |
| X | g.18579912T>A | CA412350126 | CDKL5 | c.347T>A (p.Ile116Asn) c.215T>A (p.Ile72Asn) n.599T>A | |
| X | g.18579912T>C | CA412350127 | CDKL5 | c.347T>C (p.Ile116Thr) c.215T>C (p.Ile72Thr) n.599T>C | |
| X | g.18579912T>G | CA412350129 | CDKL5 | c.347T>G (p.Ile116Ser) c.215T>G (p.Ile72Ser) n.599T>G | |
| X | g.18579913C>A | CA515470097 | CDKL5 | c.348C>A (p.Ile116=) c.216C>A (p.Ile72=) n.600C>A | |
| X | g.18579913C= | CA2417966735 | CDKL5 | c.348C= (p.Ile116=) c.216C= (p.Ile72=) n.600C= | |
| X | g.18579913C>G | CA412350132 | CDKL5 | c.348C>G (p.Ile116Met) c.216C>G (p.Ile72Met) n.600C>G | |
| X | g.18579913C>T | CA515470098 | CDKL5 | c.348C>T (p.Ile116=) c.216C>T (p.Ile72=) n.600C>T | |
| X | g.18579914T>A | CA412350135 | CDKL5 | c.349T>A (p.Tyr117Asn) c.217T>A (p.Tyr73Asn) n.601T>A | |
| X | g.18579914T>C | CA412350138 | CDKL5 | c.349T>C (p.Tyr117His) c.217T>C (p.Tyr73His) n.601T>C | |
| X | g.18579914T>G | CA412350136 | CDKL5 | c.349T>G (p.Tyr117Asp) c.217T>G (p.Tyr73Asp) n.601T>G | |
| X | g.18579914dup | CA916083851 | CDKL5 | c.349dup (p.Tyr117LeufsTer12) c.217dup (p.Tyr73LeufsTer12) n.601dup | ClinVar dbSNP |
| X | g.18579914_18579922delinsTATCAGCTA | CA2417966736 | CDKL5 | c.349_357delinsTATCAGCTA (p.Tyr117=) c.217_225delinsTATCAGCTA (p.Tyr73=) n.601_609delinsTATCAGCTA | |
| X | g.18579915A= | CA2417966737 | CDKL5 | c.350A= (p.Tyr117=) c.218A= (p.Tyr73=) n.602A= | |
| X | g.18579915A>C | CA412350139 | CDKL5 | c.350A>C (p.Tyr117Ser) c.218A>C (p.Tyr73Ser) n.602A>C | |
| X | g.18579915A>G | CA412350143 | CDKL5 | c.350A>G (p.Tyr117Cys) c.218A>G (p.Tyr73Cys) n.602A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579915A>T | CA412350141 | CDKL5 | c.350A>T (p.Tyr117Phe) c.218A>T (p.Tyr73Phe) n.602A>T | |
| X | g.18579915dup | CA2580100384 | CDKL5 | c.350dup (p.Tyr117Ter) c.218dup (p.Tyr73Ter) n.602dup | ClinVar |
| X | g.18579919_18579926del | CA916083852 | CDKL5 | c.354_361del (p.Leu119GlyfsTer7) c.222_229del (p.Leu75GlyfsTer7) n.606_613del | ClinVar dbSNP |
| X | g.18579915_18579927del | CA2520791320 | CDKL5 | c.350_362del (p.Tyr117TrpfsTer16) c.218_230del (p.Tyr73TrpfsTer16) n.602_614del | |
| X | g.18579916T>A | CA294591 | CDKL5 | c.351T>A (p.Tyr117Ter) c.219T>A (p.Tyr73Ter) n.603T>A | ClinVar dbSNP |
| X | g.18579916T>C | CA515470099 | CDKL5 | c.351T>C (p.Tyr117=) c.219T>C (p.Tyr73=) n.603T>C | |
| X | g.18579916T>G | CA412350146 | CDKL5 | c.351T>G (p.Tyr117Ter) c.219T>G (p.Tyr73Ter) n.603T>G | |
| X | g.18579916T= | CA2417966738 | CDKL5 | c.351T= (p.Tyr117=) c.219T= (p.Tyr73=) n.603T= | |
| X | g.18579917C>A | CA412350148 | CDKL5 | c.352C>A (p.Gln118Lys) c.220C>A (p.Gln74Lys) n.604C>A | |
| X | g.18579917C= | CA2417966739 | CDKL5 | c.352C= (p.Gln118=) c.220C= (p.Gln74=) n.604C= | |
| X | g.18579917C>G | CA412350150 | CDKL5 | c.352C>G (p.Gln118Glu) c.220C>G (p.Gln74Glu) n.604C>G | |
| X | g.18579917C>T | CA170489 | CDKL5 | c.352C>T (p.Gln118Ter) c.220C>T (p.Gln74Ter) n.604C>T | ClinVar dbSNP |
| X | g.18579918A= | CA2417966741 | CDKL5 | c.353A= (p.Gln118=) c.221A= (p.Gln74=) n.605A= | |
| X | g.18579918A>C | CA412350153 | CDKL5 | c.353A>C (p.Gln118Pro) c.221A>C (p.Gln74Pro) n.605A>C | |
| X | g.18579918A>G | CA279646 | CDKL5 | c.353A>G (p.Gln118Arg) c.221A>G (p.Gln74Arg) n.605A>G | ClinVar dbSNP |
| X | g.18579918A>T | CA412350156 | CDKL5 | c.353A>T (p.Gln118Leu) c.221A>T (p.Gln74Leu) n.605A>T | |
| X | g.18579918_18579928delinsAGCTAATCAAG | CA2417966740 | CDKL5 | c.353_363delinsAGCTAATCAAG (p.Gln118=) c.221_231delinsAGCTAATCAAG (p.Gln74=) n.605_615delinsAGCTAATCAAG |