Unique variants in gene CDKL5

Information The variants shown are described using the NM_003159.2 transcript reference sequence.

162 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-162-17009C>A r.(=) p.(=) g.18508046C>A Copied from the Exome Variant Server CDKL5_000001 1/3600 1/2391 0/1209
1 c.64+17G>A r.(=) p.(=) g.18525297G>A Copied from the Exome Variant Server CDKL5_000002 1/10563 0/6728 1/3835
1 c.64+26G>A r.(=) p.(=) g.18525306G>A Copied from the Exome Variant Server CDKL5_000003 5/10563 5/6728 0/3835
1 c.64+44A>T r.(=) p.(=) g.18525324A>T Copied from the Exome Variant Server CDKL5_000004 49/10563 2/6728 47/3835
1 c.65-1344C>T r.(=) p.(=) g.18527596C>T Copied from the Exome Variant Server CDKL5_000005 18/3600 16/2391 2/1209
1 c.65-60T>C r.(=) p.(=) g.18528880T>C Copied from the Exome Variant Server CDKL5_000006 1/3599 0/2390 1/1209
1 c.65-49T>G r.(=) p.(=) g.18528891T>G Copied from the Exome Variant Server CDKL5_000007 1/10560 0/6727 1/3833
1 c.65-38T>C r.(=) p.(=) g.18528902T>C Copied from the Exome Variant Server CDKL5_000008 5/10562 0/6727 5/3835
1 c.93A>G r.(=) p.(=) g.18528968A>G Copied from the Exome Variant Server CDKL5_000009 1/10563 1/6728 0/3835
1 c.99+34A>G r.(=) p.(=) g.18529008A>G Copied from the Exome Variant Server CDKL5_000010 12/10558 1/6725 11/3833
1 c.99+50T>C r.(=) p.(=) g.18529024T>C Copied from the Exome Variant Server CDKL5_000011 2/10551 0/6722 2/3829
1 c.100-22507C>T r.(=) p.(=) g.18560090C>T Copied from the Exome Variant Server CDKL5_000012 2/3600 0/2391 2/1209
1 c.100-22492G>A r.(=) p.(=) g.18560105G>A Copied from the Exome Variant Server CDKL5_000013 19/3600 0/2391 19/1209
1 c.100-15734T>C r.(=) p.(=) g.18566863T>C Copied from the Exome Variant Server CDKL5_000014 91/3600 17/2391 74/1209
1 c.100-15714G>A r.(=) p.(=) g.18566883G>A Copied from the Exome Variant Server CDKL5_000015 18/3600 16/2391 2/1209
1 c.100-15693C>T r.(=) p.(=) g.18566904C>T Copied from the Exome Variant Server CDKL5_000016 4/3600 2/2391 2/1209
1 c.100-48G>T r.(=) p.(=) g.18582549G>T Copied from the Exome Variant Server CDKL5_000017 3/10563 3/6728 0/3835
1 c.100-23C>T r.(=) p.(=) g.18582574C>T Copied from the Exome Variant Server CDKL5_000018 3/10563 3/6728 0/3835
1 c.145+5_145+8del r.spl? p.? g.18582647_18582650del Copied from the Exome Variant Server CDKL5_000019 507/6783 340/4499 167/2284
1 c.145+7_145+8del r.(=) p.(=) g.18582649_18582650del Copied from the Exome Variant Server CDKL5_000021 1131/6783 786/4499 345/2284
1 c.145+7_145+8dup r.(=) p.(=) g.18582649_18582650dup Copied from the Exome Variant Server CDKL5_000020 180/6783 109/4499 71/2284
1 c.145+17A>G r.(=) p.(=) g.18582659A>G Copied from the Exome Variant Server CDKL5_000022 34/9626 34/6260 0/3366
1 c.146-33A>G r.(=) p.(=) g.18593441A>G Copied from the Exome Variant Server CDKL5_000023 1/10560 0/6727 1/3833
1 c.192T>G r.(=) p.(=) g.18593520T>G Copied from the Exome Variant Server CDKL5_000024 3/10563 3/6728 0/3835
1 c.282+14T>C r.(=) p.(=) g.18593624T>C Copied from the Exome Variant Server CDKL5_000025 1/10563 0/6728 1/3835
1 c.282+34C>T r.(=) p.(=) g.18593644C>T Copied from the Exome Variant Server CDKL5_000026 1/10563 1/6728 0/3835
1 c.282+42T>A r.(=) p.(=) g.18593652T>A Copied from the Exome Variant Server CDKL5_000027 1/10563 1/6728 0/3835
1 c.283-2150G>A r.(=) p.(=) g.18595818G>A Copied from the Exome Variant Server CDKL5_000028 2/3600 2/2391 0/1209
1 c.283-2143G>C r.(=) p.(=) g.18595825G>C Copied from the Exome Variant Server CDKL5_000029 2/3600 0/2391 2/1209
1 c.283-44G>A r.(=) p.(=) g.18597924G>A Copied from the Exome Variant Server CDKL5_000030 1/10560 1/6725 0/3835
1 c.283-43G>A r.(=) p.(=) g.18597925G>A Copied from the Exome Variant Server CDKL5_000031 10/10561 9/6726 1/3835
1 c.283-38A>G r.(=) p.(=) g.18597930A>G Copied from the Exome Variant Server CDKL5_000032 1/10562 0/6727 1/3835
1 c.283-25A>G r.(=) p.(=) g.18597943A>G Copied from the Exome Variant Server CDKL5_000033 1/10562 1/6727 0/3835
1 c.283-12T>C r.(=) p.(=) g.18597956T>C Copied from the Exome Variant Server CDKL5_000034 9/10562 0/6727 9/3835
1 c.291C>T r.(=) p.(=) g.18597976C>T Copied from the Exome Variant Server CDKL5_000035 2/10563 0/6728 2/3835
1 c.375G>C r.(?) p.(Trp125Cys) g.18598060G>C Copied from the Exome Variant Server CDKL5_000036 1/10561 1/6726 0/3835
1 c.404-25del r.(=) p.(=) g.18599986del Copied from the Exome Variant Server CDKL5_000037 165/10161 102/6445 63/3716
1 c.463+22T>C r.(=) p.(=) g.18600092T>C Copied from the Exome Variant Server CDKL5_000038 3/10545 3/6710 0/3835
1 c.464-43_464-40del r.(=) p.(=) g.18602340_18602343del Copied from the Exome Variant Server CDKL5_000039 22/10205 16/6484 6/3721
1 c.464-41del r.(=) p.(=) g.18602342del Copied from the Exome Variant Server CDKL5_000040 14/10205 6/6484 8/3721
1 c.464-39T>C r.(=) p.(=) g.18602344T>C Copied from the Exome Variant Server CDKL5_000041 23/10563 0/6728 23/3835
1 c.464-9A>G r.(=) p.(=) g.18602374A>G Copied from the Exome Variant Server CDKL5_000042 1/10563 1/6728 0/3835
1 c.532C>A r.(=) p.(=) g.18602451C>A Copied from the Exome Variant Server CDKL5_000043 1/10563 1/6728 0/3835
1 c.534G>A r.(=) p.(=) g.18602453G>A Copied from the Exome Variant Server CDKL5_000044 1/10563 1/6728 0/3835
1 c.554+51T>A r.(=) p.(=) g.18602524T>A Copied from the Exome Variant Server CDKL5_000045 2/10563 0/6728 2/3835
1 c.555-47_555-45del r.(=) p.(=) g.18606027_18606029del Copied from the Exome Variant Server CDKL5_000046 2/10195 2/6476 0/3719
1 c.555-19C>G r.(=) p.(=) g.18606055C>G Copied from the Exome Variant Server CDKL5_000047 259/10563 3/6728 256/3835
1 c.660T>C r.(=) p.(=) g.18606179T>C Copied from the Exome Variant Server CDKL5_000048 1/10563 1/6728 0/3835
1 c.742C>T r.(?) p.(Arg248Trp) g.18606261C>T Copied from the Exome Variant Server CDKL5_000049 1/10563 1/6728 0/3835
1 c.826-24C>T r.(=) p.(=) g.18616558C>T Copied from the Exome Variant Server CDKL5_000050 20/10563 18/6728 2/3835
1 c.939A>G r.(=) p.(=) g.18616695A>G Copied from the Exome Variant Server CDKL5_000051 1/10563 1/6728 0/3835
1 c.951T>C r.(=) p.(=) g.18616707T>C Copied from the Exome Variant Server CDKL5_000052 1/10563 0/6728 1/3835
1 c.977+26C>T r.(=) p.(=) g.18616759C>T Copied from the Exome Variant Server CDKL5_000053 2/10563 2/6728 0/3835
1 c.977+37T>C r.(=) p.(=) g.18616770T>C Copied from the Exome Variant Server CDKL5_000054 1/10563 1/6728 0/3835
1 c.978-40A>G r.(=) p.(=) g.18621982A>G Copied from the Exome Variant Server CDKL5_000055 1/10563 1/6728 0/3835
1 c.978-37G>A r.(=) p.(=) g.18621985G>A Copied from the Exome Variant Server CDKL5_000056 1/10563 0/6728 1/3835
1 c.987C>T r.(=) p.(=) g.18622031C>T Copied from the Exome Variant Server CDKL5_000057 2/10563 1/6728 1/3835
1 c.1027A>G r.(?) p.(Ser343Gly) g.18622071A>G Copied from the Exome Variant Server CDKL5_000058 1/10563 1/6728 0/3835
1 c.1071C>T r.(=) p.(=) g.18622115C>T Copied from the Exome Variant Server CDKL5_000059 1/10563 1/6728 0/3835
1 c.1116T>A r.(=) p.(=) g.18622160T>A Copied from the Exome Variant Server CDKL5_000060 2/10563 0/6728 2/3835
1 c.1122T>A r.(=) p.(=) g.18622166T>A Copied from the Exome Variant Server CDKL5_000061 1/10563 0/6728 1/3835
1 c.1213_1215del r.(?) p.(Leu406del) g.18622257_18622259del Copied from the Exome Variant Server CDKL5_000062 2/10205 0/6484 2/3721
1 c.1286C>T r.(?) p.(Pro429Leu) g.18622330C>T Copied from the Exome Variant Server CDKL5_000063 1/10563 1/6728 0/3835
1 c.1330C>T r.(?) p.(Arg444Cys) g.18622374C>T Copied from the Exome Variant Server CDKL5_000064 1/10563 1/6728 0/3835
1 c.1332C>T r.(=) p.(=) g.18622376C>T Copied from the Exome Variant Server CDKL5_000065 21/10563 0/6728 21/3835
1 c.1338A>T r.(=) p.(=) g.18622382A>T Copied from the Exome Variant Server CDKL5_000066 9/10563 0/6728 9/3835
1 c.1431T>C r.(=) p.(=) g.18622475T>C Copied from the Exome Variant Server CDKL5_000067 5/10563 5/6728 0/3835
1 c.1446C>T r.(=) p.(=) g.18622490C>T Copied from the Exome Variant Server CDKL5_000068 1/10563 1/6728 0/3835
1 c.1451_1456del r.(?) p.(Ala486_Lys487del) g.18622495_18622500del Copied from the Exome Variant Server CDKL5_000069 1/10205 1/6484 0/3721
1 c.1523T>C r.(?) p.(Ile508Thr) g.18622567T>C Copied from the Exome Variant Server CDKL5_000070 2/10563 2/6728 0/3835
1 c.1527G>A r.(=) p.(=) g.18622571G>A Copied from the Exome Variant Server CDKL5_000071 1/10563 0/6728 1/3835
1 c.1614G>A r.(=) p.(=) g.18622658G>A Copied from the Exome Variant Server CDKL5_000072 1/10563 0/6728 1/3835
1 c.1672C>T r.(?) p.(Arg558Cys) g.18622716C>T Copied from the Exome Variant Server CDKL5_000073 1/10563 0/6728 1/3835
1 c.1684A>G r.(?) p.(Thr562Ala) g.18622728A>G Copied from the Exome Variant Server CDKL5_000074 1/10563 1/6728 0/3835
1 c.1721C>T r.(?) p.(Pro574Leu) g.18622765C>T Copied from the Exome Variant Server CDKL5_000075 1/10563 1/6728 0/3835
1 c.1768G>A r.(?) p.(Glu590Lys) g.18622812G>A Copied from the Exome Variant Server CDKL5_000076 1/10563 1/6728 0/3835
1 c.1797C>G r.(=) p.(=) g.18622841C>G Copied from the Exome Variant Server CDKL5_000077 54/10563 0/6728 54/3835
1 c.1817A>G r.(?) p.(Gln606Arg) g.18622861A>G Copied from the Exome Variant Server CDKL5_000078 1/10563 1/6728 0/3835
1 c.1858G>A r.(?) p.(Val620Met) g.18622902G>A Copied from the Exome Variant Server CDKL5_000079 1/10563 0/6728 1/3835
1 c.1892T>C r.(?) p.(Ile631Thr) g.18622936T>C Copied from the Exome Variant Server CDKL5_000080 3/10563 0/6728 3/3835
1 c.1944+40G>T r.(=) p.(=) g.18623028G>T Copied from the Exome Variant Server CDKL5_000081 1/10563 1/6728 0/3835
1 c.2046+12del r.(=) p.(=) g.18627044del Copied from the Exome Variant Server CDKL5_000082 17/10205 0/6484 17/3721
1 c.2086G>A r.(?) p.(Ala696Thr) g.18627624G>A Copied from the Exome Variant Server CDKL5_000083 1/10563 1/6728 0/3835
1 c.2152+31C>G r.(=) p.(=) g.18627721C>G Copied from the Exome Variant Server CDKL5_000084 1/10563 0/6728 1/3835
1 c.2152+38C>T r.(=) p.(=) g.18627728C>T Copied from the Exome Variant Server CDKL5_000085 1/10563 0/6728 1/3835
1 c.2152+41C>T r.(=) p.(=) g.18627731C>T Copied from the Exome Variant Server CDKL5_000086 1/10563 1/6728 0/3835
1 c.2152+47T>C r.(=) p.(=) g.18627737T>C Copied from the Exome Variant Server CDKL5_000087 3/10560 2/6726 1/3834
1 c.2153-42A>G r.(=) p.(=) g.18631230A>G Copied from the Exome Variant Server CDKL5_000088 9/10475 0/6691 9/3784
1 c.2153-42_2153-41insG r.(=) p.(=) g.18631230_18631231insG Copied from the Exome Variant Server CDKL5_000089 125/10110 4/6443 121/3667
1 c.2153-18T>G r.(=) p.(=) g.18631254T>G Copied from the Exome Variant Server CDKL5_000090 4/10563 4/6728 0/3835
1 c.2164C>T r.(?) p.(Arg722Cys) g.18631283C>T Copied from the Exome Variant Server CDKL5_000091 1/10563 0/6728 1/3835
1 c.2200A>G r.(?) p.(Thr734Ala) g.18631319A>G Copied from the Exome Variant Server CDKL5_000092 1/10563 1/6728 0/3835
1 c.2220A>G r.(=) p.(=) g.18631339A>G Copied from the Exome Variant Server CDKL5_000093 1/10563 0/6728 1/3835
1 c.2276+12G>C r.(=) p.(=) g.18631407G>C Copied from the Exome Variant Server CDKL5_000094 1/10563 0/6728 1/3835
1 c.2276+17G>C r.(=) p.(=) g.18631412G>C Copied from the Exome Variant Server CDKL5_000095 1/10563 1/6728 0/3835
1 c.2305_2306insAGC r.(?) p.(Gln770dup) g.18638015_18638016insAGC Copied from the Exome Variant Server CDKL5_000096 1/10192 1/6475 0/3717
1 c.2372A>C r.(?) p.(Gln791Pro) g.18638082A>C Copied from the Exome Variant Server CDKL5_000097 348/10520 326/6700 22/3820
1 c.2376+9A>G r.(=) p.(=) g.18638095A>G Copied from the Exome Variant Server CDKL5_000098 1/10505 0/6689 1/3816
1 c.2389G>C r.(?) p.(Asp797His) g.18643260G>C Copied from the Exome Variant Server CDKL5_000099 1/10563 0/6728 1/3835
1 c.2409G>A r.(=) p.(=) g.18643280G>A Copied from the Exome Variant Server CDKL5_000100 20/10563 0/6728 20/3835
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