NM_001323289.2(CDKL5):c.2376+118T>A
|
rs3752484
|
0.44413
|
NM_001323289.2(CDKL5):c.1944+93_1944+94insT
|
rs199988024
|
0.05052
|
NM_001323289.2(CDKL5):c.404-105T>G
|
rs73636684
|
0.04522
|
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)
|
rs35478150
|
0.03249
|
NM_001323289.2(CDKL5):c.825+170A>G
|
rs17313049
|
0.02765
|
NM_001323289.2(CDKL5):c.555-19C>G
|
rs75057928
|
0.02527
|
NM_001323289.2(CDKL5):c.-163+16465A>G
|
rs2283722
|
0.02524
|
NM_001323289.2(CDKL5):c.100-144A>G
|
rs147529625
|
0.02301
|
NM_001323289.2(CDKL5):c.2152+172C>A
|
rs79558557
|
0.02011
|
NM_001323289.2(CDKL5):c.464-298A>T
|
rs149852919
|
0.01636
|
NM_001323289.2(CDKL5):c.-163+136T>C
|
rs187188170
|
0.01388
|
NM_001323289.2(CDKL5):c.1944+113T>G
|
rs186743142
|
0.01198
|
NM_001323289.2(CDKL5):c.100-243A>G
|
rs187395206
|
0.01071
|
NM_001323289.2(CDKL5):c.2153-42A>G
|
rs371999833
|
0.00997
|
NM_001323289.2(CDKL5):c.744+112T>G
|
rs150769601
|
0.00636
|
NM_001323289.2(CDKL5):c.403+317T>C
|
rs73636683
|
0.00599
|
NM_001323289.2(CDKL5):c.2153-235G>A
|
rs142836837
|
0.00472
|
NM_001323289.2(CDKL5):c.283-213T>A
|
rs137967555
|
0.00471
|
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)
|
rs141478957
|
0.00451
|
NM_001323289.2(CDKL5):c.2376+158A>G
|
rs144309559
|
0.00360
|
NM_001323289.2(CDKL5):c.145+17A>G
|
rs199814742
|
0.00355
|
NM_001323289.2(CDKL5):c.2152+195G>A
|
rs373744056
|
0.00331
|
NM_001323289.2(CDKL5):c.2047-178G>A
|
rs183698277
|
0.00326
|
NM_001323289.2(CDKL5):c.-163+139_-163+140insTT
|
rs1401710048
|
0.00323
|
NM_001323289.2(CDKL5):c.825+180G>A
|
rs369394603
|
0.00296
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001323289.2(CDKL5):c.64+44A>T
|
rs148366254
|
0.00120
|
NM_001323289.2(CDKL5):c.283-12T>C
|
rs188879559
|
0.00110
|
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)
|
rs145401225
|
0.00099
|
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=)
|
rs146488512
|
0.00085
|
NM_001323289.2(CDKL5):c.2046+12del
|
rs766762463
|
0.00076
|
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)
|
rs763419895
|
0.00050
|
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=)
|
rs139329419
|
0.00033
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=)
|
rs751789670
|
0.00029
|
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=)
|
rs201473442
|
0.00024
|
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=)
|
rs371902632
|
0.00021
|
NM_001323289.2(CDKL5):c.2276+12G>C
|
rs372909446
|
0.00020
|
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)
|
rs148697943
|
0.00018
|
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)
|
rs61753977
|
0.00014
|
NM_001323289.2(CDKL5):c.-5T>A
|
rs79219416
|
0.00013
|
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)
|
rs144878564
|
0.00012
|
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)
|
rs587783156
|
0.00012
|
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)
|
rs373448935
|
0.00011
|
NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)
|
rs201893287
|
0.00009
|
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=)
|
rs369561849
|
0.00007
|
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=)
|
rs587783154
|
0.00007
|
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln)
|
rs189400843
|
0.00006
|
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)
|
rs781427744
|
0.00006
|
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)
|
rs199897804
|
0.00006
|
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=)
|
rs763478005
|
0.00006
|
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg)
|
rs1481627825
|
0.00006
|
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys)
|
rs780119476
|
0.00005
|
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser)
|
rs1064794591
|
0.00005
|
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=)
|
rs145496868
|
0.00005
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)
|
rs369377144
|
0.00005
|
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys)
|
rs1189749755
|
0.00005
|
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=)
|
rs1249923057
|
0.00005
|
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg)
|
rs756537286
|
0.00005
|
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=)
|
rs141452495
|
0.00004
|
NM_001323289.2(CDKL5):c.145+6T>G
|
rs753819165
|
0.00004
|
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)
|
rs372629988
|
0.00004
|
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)
|
rs140313320
|
0.00004
|
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)
|
rs376429571
|
0.00004
|
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His)
|
rs759083770
|
0.00004
|
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
|
rs138125282
|
0.00004
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val)
|
rs779325312
|
0.00003
|
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr)
|
rs749822712
|
0.00003
|
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=)
|
rs774307489
|
0.00003
|
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr)
|
rs374518046
|
0.00003
|
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu)
|
rs1064795982
|
0.00003
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=)
|
rs777079786
|
0.00002
|
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)
|
rs267608436
|
0.00002
|
NM_001323289.2(CDKL5):c.2277-4T>C
|
rs1064794369
|
0.00002
|
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=)
|
rs1037569177
|
0.00002
|
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys)
|
rs773760466
|
0.00002
|
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp)
|
rs1475195158
|
0.00002
|
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala)
|
rs1926077779
|
0.00002
|
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala)
|
rs751995225
|
0.00002
|
NM_001323289.2(CDKL5):c.-18A>G
|
rs1483246379
|
0.00001
|
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile)
|
rs587783150
|
0.00001
|
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr)
|
rs267608611
|
0.00001
|
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu)
|
rs770340766
|
0.00001
|
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=)
|
rs267608620
|
0.00001
|
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp)
|
rs767844474
|
0.00001
|
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=)
|
rs773921712
|
0.00001
|
NM_001323289.2(CDKL5):c.1471G>A (p.Ala491Thr)
|
rs1555952046
|
0.00001
|
NM_001323289.2(CDKL5):c.1692T>C (p.His564=)
|
rs765011302
|
0.00001
|
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)
|
rs267608645
|
0.00001
|
NM_001323289.2(CDKL5):c.2046+16A>G
|
rs1157430431
|
0.00001
|
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg)
|
rs945311782
|
0.00001
|
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val)
|
rs776965205
|
0.00001
|
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=)
|
rs761789190
|
0.00001
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly)
|
rs1218990219
|
0.00001
|
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)
|
rs727503847
|
0.00001
|
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=)
|
rs748905018
|
0.00001
|
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr)
|
rs763110247
|
0.00001
|
NM_001323289.2(CDKL5):c.404-9A>G
|
rs1037467164
|
0.00001
|
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr)
|
rs765304446
|
0.00001
|
NM_001323289.2(CDKL5):c.65-13C>T
|
rs532222548
|
0.00001
|
NM_001323289.2(CDKL5):c.846A>G (p.Pro282=)
|
rs773523708
|
0.00001
|
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys)
|
rs1064794671
|
0.00001
|
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=)
|
rs527360143
|
0.00001
|
GRCh37/hg19 Xp22.13(chrX:18442534-18529433)x0
|
|
|
GRCh37/hg19 Xp22.13(chrX:18597661-18600349)x1
|
|
|
NM_001323289.2(CDKL5):c.-162-103C>G
|
rs2147091932
|
|
NM_001323289.2(CDKL5):c.-162-2A>G
|
rs786204973
|
|
NM_001323289.2(CDKL5):c.-163+10C>T
|
rs1057520478
|
|
NM_001323289.2(CDKL5):c.-163+13G>A
|
rs913326290
|
|
NM_001323289.2(CDKL5):c.-163+16773TTTTG[10]
|
rs60114040
|
|
NM_001323289.2(CDKL5):c.-163+16773TTTTG[6]
|
rs60114040
|
|
NM_001323289.2(CDKL5):c.-163+16773TTTTG[8]
|
rs60114040
|
|
NM_001323289.2(CDKL5):c.-163+19A>C
|
rs937436369
|
|
NM_001323289.2(CDKL5):c.-174G>A
|
rs1555928752
|
|
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)
|
rs1057518203
|
|
NM_001323289.2(CDKL5):c.1007_1014del (p.Gln336fs)
|
rs1064793381
|
|
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
|
|
|
NM_001323289.2(CDKL5):c.113T>G (p.Ile38Ser)
|
rs1555947847
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs)
|
rs1555951981
|
|
NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe)
|
rs587783071
|
|
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
|
rs786204967
|
|
NM_001323289.2(CDKL5):c.125_129delinsC (p.Lys42fs)
|
rs2147132253
|
|
NM_001323289.2(CDKL5):c.126_128del (p.Lys43del)
|
rs2147132248
|
|
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
|
|
|
NM_001323289.2(CDKL5):c.1300C>T (p.Leu434Phe)
|
|
|
NM_001323289.2(CDKL5):c.1324C>T (p.Gln442Ter)
|
rs587783151
|
|
NM_001323289.2(CDKL5):c.133A>G (p.Lys45Glu)
|
rs2147132256
|
|
NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs)
|
rs587783113
|
|
NM_001323289.2(CDKL5):c.1354C>T (p.Gln452Ter)
|
rs1602286285
|
|
NM_001323289.2(CDKL5):c.138C>T (p.Asp46=)
|
rs2147132270
|
|
NM_001323289.2(CDKL5):c.1406A>C (p.Tyr469Ser)
|
|
|
NM_001323289.2(CDKL5):c.145+5AT[11]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.145+5AT[13]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.145+5AT[6]
|
rs745969938
|
|
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)
|
rs587783114
|
|
NM_001323289.2(CDKL5):c.146-11T>G
|
rs2147139512
|
|
NM_001323289.2(CDKL5):c.146-19A>G
|
rs1057523365
|
|
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys)
|
rs587783152
|
|
NM_001323289.2(CDKL5):c.1546del (p.Tyr516fs)
|
rs1555952063
|
|
NM_001323289.2(CDKL5):c.1577C>T (p.Ser526Phe)
|
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.1670C>G (p.Ser557Ter)
|
rs587783145
|
|
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs)
|
rs587783115
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1721C>A (p.Pro574Gln)
|
rs199897804
|
|
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe)
|
rs1378912528
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593fs)
|
rs1064793376
|
|
NM_001323289.2(CDKL5):c.1777del (p.Ser593fs)
|
rs1064793376
|
|
NM_001323289.2(CDKL5):c.178G>A (p.Glu60Lys)
|
rs1925262394
|
|
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala)
|
rs761662406
|
|
NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs)
|
rs587783116
|
|
NM_001323289.2(CDKL5):c.1832A>G (p.His611Arg)
|
|
|
NM_001323289.2(CDKL5):c.1850G>T (p.Arg617Leu)
|
rs2147161251
|
|
NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs)
|
rs587783117
|
|
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
|
|
|
NM_001323289.2(CDKL5):c.1895G>A (p.Gly632Glu)
|
|
|
NM_001323289.2(CDKL5):c.1909del (p.Ala637fs)
|
rs587783118
|
|
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe)
|
rs1057524785
|
|
NM_001323289.2(CDKL5):c.1942_1944+2delinsA
|
rs1555952163
|
|
NM_001323289.2(CDKL5):c.1944+247del
|
rs372238701
|
|
NM_001323289.2(CDKL5):c.1944+247dup
|
rs372238701
|
|
NM_001323289.2(CDKL5):c.1944+2T>G
|
rs587783155
|
|
NM_001323289.2(CDKL5):c.1944+6G>A
|
rs1602287049
|
|
NM_001323289.2(CDKL5):c.1945-5T>C
|
rs1064796245
|
|
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=)
|
rs1602289218
|
|
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter)
|
rs1569220754
|
|
NM_001323289.2(CDKL5):c.2046+3A>G
|
rs751000827
|
|
NM_001323289.2(CDKL5):c.2095G>T (p.Glu699Ter)
|
rs886041673
|
|
NM_001323289.2(CDKL5):c.2106C>T (p.His702=)
|
rs1057520416
|
|
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp)
|
rs587783072
|
|
NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer)
|
rs587783119
|
|
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)
|
rs886043453
|
|
NM_001323289.2(CDKL5):c.2152+5G>A
|
rs1926476615
|
|
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)
|
rs267608653
|
|
NM_001323289.2(CDKL5):c.2153-2A>G
|
|
|
NM_001323289.2(CDKL5):c.2153-38dup
|
rs368997720
|
|
NM_001323289.2(CDKL5):c.2153-47_2153-38del
|
rs368997720
|
|
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
|
rs62641235
|
|
NM_001323289.2(CDKL5):c.2165G>A (p.Arg722His)
|
rs2147167525
|
|
NM_001323289.2(CDKL5):c.2205_2206del (p.Arg735fs)
|
rs587783120
|
|
NM_001323289.2(CDKL5):c.220G>T (p.Glu74Ter)
|
rs587783073
|
|
NM_001323289.2(CDKL5):c.2231_2265del (p.Ser744fs)
|
rs1064796503
|
|
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg)
|
rs1926619731
|
|
NM_001323289.2(CDKL5):c.2254dup (p.Arg752fs)
|
rs587783121
|
|
NM_001323289.2(CDKL5):c.2276+9T>G
|
rs1555953298
|
|
NM_001323289.2(CDKL5):c.2277-13T>A
|
rs1413641177
|
|
NM_001323289.2(CDKL5):c.2305G>T (p.Glu769Ter)
|
rs886041872
|
|
NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs)
|
rs267608654
|
|
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)
|
rs1555954074
|
|
NM_001323289.2(CDKL5):c.234_238dup (p.Arg80fs)
|
rs1555949033
|
|
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs)
|
rs587783123
|
|
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)
|
rs1602295779
|
|
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
|
|
|
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His)
|
rs776025230
|
|
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs)
|
rs587783124
|
|
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)
|
rs587783402
|
|
NM_001323289.2(CDKL5):c.248del (p.Gly83fs)
|
rs587783109
|
|
NM_001323289.2(CDKL5):c.2496+3G>A
|
rs1057523074
|
|
NM_001323289.2(CDKL5):c.2497-10T>G
|
rs1057522389
|
|
NM_001323289.2(CDKL5):c.250A>T (p.Lys84Ter)
|
rs587783074
|
|
NM_001323289.2(CDKL5):c.2518C>T (p.Arg840Cys)
|
|
|
NM_001323289.2(CDKL5):c.2522dup (p.Leu842fs)
|
rs886042014
|
|
NM_001323289.2(CDKL5):c.2549del (p.Asn850fs)
|
rs587783125
|
|
NM_001323289.2(CDKL5):c.258C>G (p.Tyr86Ter)
|
rs1085307470
|
|
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs)
|
rs1555955237
|
|
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
|
rs587783158
|
|
NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs)
|
rs587783126
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.2671C>T (p.Gln891Ter)
|
rs587783159
|
|
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=)
|
rs777919249
|
|
NM_001323289.2(CDKL5):c.2683C>T (p.Pro895Ser)
|
|
|
NM_001323289.2(CDKL5):c.2696C>A (p.Pro899Gln)
|
rs2147179076
|
|
NM_001323289.2(CDKL5):c.2733G>A (p.Trp911Ter)
|
rs1555955268
|
|
NM_001323289.2(CDKL5):c.2787G>T (p.Gln929His)
|
|
|
NM_001323289.2(CDKL5):c.282+2T>G
|
rs587783075
|
|
NM_001323289.2(CDKL5):c.282+4del
|
rs587783110
|
|
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
|
rs1602300837
|
|
NM_001323289.2(CDKL5):c.2822A>G (p.Tyr941Cys)
|
rs1291397963
|
|
NM_001323289.2(CDKL5):c.283-99C>A
|
rs4825261
|
|
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)
|
rs1555955296
|
|
NM_001323289.2(CDKL5):c.292G>T (p.Glu98Ter)
|
rs2147142586
|
|
NM_001323289.2(CDKL5):c.29T>C (p.Met10Thr)
|
|
|
NM_001323289.2(CDKL5):c.322C>G (p.Pro108Ala)
|
|
|
NM_001323289.2(CDKL5):c.351T>A (p.Tyr117Ter)
|
rs587783077
|
|
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)
|
rs267608453
|
|
NM_001323289.2(CDKL5):c.356T>G (p.Leu119Arg)
|
rs587783078
|
|
NM_001323289.2(CDKL5):c.370C>T (p.His124Tyr)
|
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.383del (p.Lys128fs)
|
rs1602271715
|
|
NM_001323289.2(CDKL5):c.392T>C (p.Ile131Thr)
|
rs2147142715
|
|
NM_001323289.2(CDKL5):c.393T>G (p.Ile131Met)
|
rs1085307934
|
|
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)
|
rs267608472
|
|
NM_001323289.2(CDKL5):c.403G>C (p.Asp135His)
|
rs1064794919
|
|
NM_001323289.2(CDKL5):c.404-135dup
|
rs368222814
|
|
NM_001323289.2(CDKL5):c.404-16del
|
rs748656624
|
|
NM_001323289.2(CDKL5):c.404-1G>T
|
rs267608474
|
|
NM_001323289.2(CDKL5):c.404-2A>G
|
rs587783080
|
|
NM_001323289.2(CDKL5):c.404-3C>A
|
rs587783079
|
|
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu)
|
rs587783081
|
|
NM_001323289.2(CDKL5):c.419A>G (p.Asn140Ser)
|
rs1057524663
|
|
NM_001323289.2(CDKL5):c.427dup (p.Ile143fs)
|
rs1555949752
|
|
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His)
|
rs2147144038
|
|
NM_001323289.2(CDKL5):c.449A>G (p.Lys150Arg)
|
rs587783083
|
|
NM_001323289.2(CDKL5):c.458A>T (p.Asp153Val)
|
rs786204985
|
|
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=)
|
rs898874642
|
|
NM_001323289.2(CDKL5):c.463+269_463+273del
|
rs766847265
|
|
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)
|
rs863225066
|
|
NM_001323289.2(CDKL5):c.480G>A (p.Leu160=)
|
rs750878642
|
|
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=)
|
rs750878642
|
|
NM_001323289.2(CDKL5):c.496G>A (p.Ala166Thr)
|
rs2147145524
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.524G>T (p.Arg175Ile)
|
rs1064794734
|
|
NM_001323289.2(CDKL5):c.526T>A (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.542A>C (p.Glu181Ala)
|
rs587783085
|
|
NM_001323289.2(CDKL5):c.545T>C (p.Leu182Pro)
|
rs2147145603
|
|
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs)
|
rs587783111
|
|
NM_001323289.2(CDKL5):c.555-2A>G
|
rs1555950455
|
|
NM_001323289.2(CDKL5):c.566dup (p.Ser191fs)
|
rs2147147959
|
|
NM_001323289.2(CDKL5):c.577G>A (p.Asp193Asn)
|
rs587783086
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.590T>G (p.Val197Gly)
|
rs1057521806
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
|
|
|
NM_001323289.2(CDKL5):c.626C>G (p.Pro209Arg)
|
rs587783088
|
|
NM_001323289.2(CDKL5):c.629del (p.Leu210fs)
|
rs1555950470
|
|
NM_001323289.2(CDKL5):c.64+305dup
|
rs200439467
|
|
NM_001323289.2(CDKL5):c.65-1G>A
|
rs1555940533
|
|
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.663dup (p.Thr222fs)
|
rs1602276166
|
|
NM_001323289.2(CDKL5):c.681A>G (p.Leu227=)
|
rs1057522628
|
|
NM_001323289.2(CDKL5):c.693del (p.Ser232fs)
|
rs886041764
|
|
NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter)
|
rs1569215664
|
|
NM_001323289.2(CDKL5):c.700C>T (p.Gln234Ter)
|
rs587783089
|
|
NM_001323289.2(CDKL5):c.703A>G (p.Met235Val)
|
rs1925703356
|
|
NM_001323289.2(CDKL5):c.73G>A (p.Gly25Arg)
|
rs587783130
|
|
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu)
|
rs1064795857
|
|
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter)
|
rs1555951142
|
|
NM_001323289.2(CDKL5):c.768dup (p.Ser257fs)
|
rs1131691926
|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
|
|
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn)
|
rs1925959502
|
|
NM_001323289.2(CDKL5):c.808dup (p.Leu270fs)
|
rs587783112
|
|
NM_001323289.2(CDKL5):c.825+5G>A
|
rs1555951149
|
|
NM_001323289.2(CDKL5):c.826-1G>C
|
rs587783149
|
|
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)
|
rs1064795672
|
|
NM_001323289.2(CDKL5):c.855A>T (p.Arg285Ser)
|
rs267608532
|
|
NM_001323289.2(CDKL5):c.858C>A (p.Tyr286Ter)
|
rs766511365
|
|
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg)
|
rs1131691376
|
|
NM_001323289.2(CDKL5):c.893A>G (p.Gln298Arg)
|
|
|
NM_001323289.2(CDKL5):c.907_908insCC (p.Leu303fs)
|
rs1602282705
|
|
NM_001323289.2(CDKL5):c.99+5G>A
|
rs587783131
|
|