NM_172107.4(KCNQ2):c.297-170C>T
|
rs2297387
|
0.66462
|
NM_172107.4(KCNQ2):c.388-271A>G
|
rs13036409
|
0.62249
|
NM_172107.4(KCNQ2):c.388-285T>G
|
rs6062940
|
0.61230
|
NM_172107.4(KCNQ2):c.388-303G>C
|
rs879704305
|
0.60243
|
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_172107.4(KCNQ2):c.388-319del
|
rs201082930
|
0.56991
|
NM_172107.4(KCNQ2):c.515-151C>T
|
rs4809302
|
0.55649
|
NM_172107.4(KCNQ2):c.388-325A>T
|
rs75064108
|
0.52956
|
NM_172107.4(KCNQ2):c.388-305dup
|
rs879770826
|
0.48639
|
NM_172107.4(KCNQ2):c.388-298G>C
|
rs67690852
|
0.37909
|
NM_172107.4(KCNQ2):c.1024-164G>A
|
rs6011829
|
0.29511
|
NM_172107.4(KCNQ2):c.1024-204C>T
|
rs6011830
|
0.28901
|
NM_172107.4(KCNQ2):c.691-326G>A
|
rs200484615
|
0.27958
|
NM_172107.4(KCNQ2):c.1526-163G>A
|
rs2281570
|
0.27272
|
NM_172107.4(KCNQ2):c.691-176A>G
|
rs375283583
|
0.25927
|
NM_172107.4(KCNQ2):c.1217+215C>T
|
rs6062931
|
0.21586
|
NM_172107.4(KCNQ2):c.297-297A>G
|
rs6062941
|
0.21228
|
NM_172107.4(KCNQ2):c.388-26G>T
|
rs6062939
|
0.21189
|
NM_172107.4(KCNQ2):c.1247+113C>T
|
rs6089910
|
0.21118
|
NM_172107.4(KCNQ2):c.928-228G>A
|
rs914476
|
0.19801
|
NM_172107.4(KCNQ2):c.1764-133A>G
|
rs2236197
|
0.19102
|
NM_172107.4(KCNQ2):c.1888-82C>G
|
rs3746363
|
0.18226
|
NM_172107.4(KCNQ2):c.1888-138C>G
|
rs3746362
|
0.17854
|
NC_000020.11:g.63472830A>G
|
rs189972692
|
0.17654
|
NM_172107.4(KCNQ2):c.1887+150T>C
|
rs34821017
|
0.14925
|
NM_172107.4(KCNQ2):c.1217+298C>T
|
rs2270240
|
0.12938
|
NM_172107.4(KCNQ2):c.1302-18C>T
|
rs756773233
|
0.12037
|
NM_172107.4(KCNQ2):c.1119-161C>T
|
rs73146513
|
0.11414
|
NM_172107.4(KCNQ2):c.691-251G>A
|
rs200477302
|
0.11352
|
NM_172107.4(KCNQ2):c.1119-235G>A
|
rs61313879
|
0.11193
|
NM_172107.4(KCNQ2):c.691-194A>G
|
rs532897092
|
0.10863
|
NM_172107.4(KCNQ2):c.1764-283C>T
|
rs2236198
|
0.10684
|
NM_172107.4(KCNQ2):c.1631+141C>T
|
rs2281569
|
0.10370
|
NM_172107.4(KCNQ2):c.1302-70G>A
|
rs75305929
|
0.09670
|
NM_172107.4(KCNQ2):c.1218-180G>A
|
rs2302514
|
0.09383
|
NM_172107.4(KCNQ2):c.515-76C>T
|
rs2297386
|
0.08317
|
NM_172107.4(KCNQ2):c.1888-195C>G
|
rs3746361
|
0.08290
|
NM_172107.4(KCNQ2):c.-88G>T
|
rs185287315
|
0.08192
|
NC_000020.11:g.63472909G>A
|
rs112489182
|
0.07562
|
NM_172107.4(KCNQ2):c.928-87G>C
|
rs73146526
|
0.07362
|
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=)
|
rs2297385
|
0.07323
|
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)
|
rs1801471
|
0.07011
|
NM_172107.4(KCNQ2):c.1247+193C>T
|
rs45464194
|
0.06802
|
NM_172107.4(KCNQ2):c.1149-161C>T
|
rs117768093
|
0.06794
|
NM_172107.4(KCNQ2):c.1888-29G>A
|
rs3746364
|
0.06734
|
NM_172107.4(KCNQ2):c.1302-275_1302-274insT
|
rs541733900
|
0.06404
|
NM_172107.4(KCNQ2):c.388-296_388-295dup
|
rs1483059162
|
0.06321
|
NM_172107.4(KCNQ2):c.515-164C>T
|
rs77332976
|
0.06214
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT
|
rs1555854850
|
0.03520
|
NM_172107.4(KCNQ2):c.1148+117C>T
|
rs118015498
|
0.02940
|
NM_172107.4(KCNQ2):c.*248C>T
|
rs6122440
|
0.02850
|
NM_172107.4(KCNQ2):c.1526-107C>T
|
rs76685684
|
0.01898
|
NM_172107.4(KCNQ2):c.1888-60T>C
|
rs111793741
|
0.01855
|
NM_172107.4(KCNQ2):c.691-212A>G
|
rs867571468
|
0.01855
|
NM_172107.4(KCNQ2):c.1302-211G>A
|
rs544274770
|
0.01338
|
NM_172107.4(KCNQ2):c.296+253T>G
|
rs370862043
|
0.01320
|
NM_172107.4(KCNQ2):c.928-159G>A
|
rs7270837
|
0.01307
|
NM_172107.4(KCNQ2):c.1302-208C>G
|
rs573812167
|
0.01270
|
NM_172107.4(KCNQ2):c.1302-207C>T
|
rs555641778
|
0.01249
|
NC_000020.11:g.63472829_63472830insGGGG
|
rs1157668433
|
0.01193
|
NM_172107.4(KCNQ2):c.515-38C>T
|
rs140255247
|
0.00987
|
NM_172107.4(KCNQ2):c.691-30G>T
|
rs201650692
|
0.00944
|
NM_172107.4(KCNQ2):c.1119-324C>T
|
rs374013648
|
0.00894
|
NM_172107.4(KCNQ2):c.388-319T>C
|
rs11475391
|
0.00880
|
NM_172107.4(KCNQ2):c.1525+199A>G
|
rs112733886
|
0.00756
|
NM_172107.4(KCNQ2):c.1631+64G>C
|
rs575049219
|
0.00638
|
NM_172107.4(KCNQ2):c.1247+28G>A
|
rs142076272
|
0.00596
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_172107.4(KCNQ2):c.817-212C>T
|
rs573485581
|
0.00460
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_172107.4(KCNQ2):c.1526-126C>T
|
rs191082039
|
0.00391
|
NM_172107.4(KCNQ2):c.388-51C>T
|
rs112315649
|
0.00391
|
NM_172107.4(KCNQ2):c.1247+304C>T
|
rs545236920
|
0.00313
|
NM_172107.4(KCNQ2):c.1764-294C>T
|
rs142360631
|
0.00302
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_172107.4(KCNQ2):c.1247+47G>A
|
rs202113069
|
0.00252
|
NM_172107.4(KCNQ2):c.690+227A>G
|
rs188293543
|
0.00245
|
NM_172107.4(KCNQ2):c.816+53C>T
|
rs144570836
|
0.00243
|
NM_172107.4(KCNQ2):c.1148+192C>T
|
rs139097381
|
0.00238
|
NM_172107.4(KCNQ2):c.1763+47G>C
|
rs77658489
|
0.00237
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
NM_172107.4(KCNQ2):c.*4G>A
|
rs1801508
|
0.00207
|
NM_172107.4(KCNQ2):c.297-12282C>T
|
rs547793052
|
0.00175
|
NM_172107.4(KCNQ2):c.816+31C>T
|
rs200661919
|
0.00153
|
NM_172107.4(KCNQ2):c.*5930C>T
|
rs527410863
|
0.00152
|
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=)
|
rs200395340
|
0.00105
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
NM_172107.4(KCNQ2):c.1631+38G>T
|
rs376334369
|
0.00092
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
NM_172107.4(KCNQ2):c.1764-25G>T
|
rs373692171
|
0.00071
|
NM_172107.4(KCNQ2):c.1763+51C>T
|
rs368562502
|
0.00062
|
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=)
|
rs35430888
|
0.00052
|
NM_172107.4(KCNQ2):c.1763+84G>A
|
rs186324056
|
0.00052
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)
|
rs140674819
|
0.00045
|
NM_172107.4(KCNQ2):c.1218-33C>T
|
rs143115785
|
0.00037
|
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)
|
rs148654588
|
0.00037
|
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val)
|
rs201750561
|
0.00035
|
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)
|
rs200909197
|
0.00034
|
NM_172107.4(KCNQ2):c.297-18C>T
|
rs370109710
|
0.00034
|
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=)
|
rs370155790
|
0.00031
|
NM_172107.4(KCNQ2):c.1024-37C>T
|
rs369242219
|
0.00030
|
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu)
|
rs201701585
|
0.00022
|
NM_172107.4(KCNQ2):c.1149-30G>A
|
rs375983801
|
0.00017
|
NM_172107.4(KCNQ2):c.2049C>T (p.His683=)
|
rs150982653
|
0.00016
|
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=)
|
rs11698044
|
0.00016
|
NM_172107.4(KCNQ2):c.1698C>T (p.Asp566=)
|
rs768228902
|
0.00015
|
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val)
|
rs199644682
|
0.00015
|
NM_172107.4(KCNQ2):c.2385C>T (p.His795=)
|
rs143016981
|
0.00015
|
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=)
|
rs143399744
|
0.00015
|
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)
|
rs751334184
|
0.00013
|
NM_172107.4(KCNQ2):c.297-10C>G
|
rs763193303
|
0.00013
|
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=)
|
rs376713245
|
0.00012
|
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=)
|
rs781056597
|
0.00011
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)
|
rs563437123
|
0.00011
|
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)
|
rs141951341
|
0.00010
|
NM_172107.4(KCNQ2):c.1887+37G>C
|
rs566808083
|
0.00010
|
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg)
|
rs142729516
|
0.00010
|
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=)
|
rs749958721
|
0.00009
|
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys)
|
rs373536274
|
0.00009
|
NM_172107.4(KCNQ2):c.*29C>T
|
rs201401764
|
0.00006
|
NM_172107.4(KCNQ2):c.1764-6C>T
|
rs118192239
|
0.00006
|
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=)
|
rs374526673
|
0.00006
|
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)
|
rs756609768
|
0.00006
|
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)
|
rs770187706
|
0.00006
|
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=)
|
rs201556105
|
0.00006
|
NM_172107.4(KCNQ2):c.2001G>A (p.Ala667=)
|
rs760711257
|
0.00005
|
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)
|
rs570139975
|
0.00005
|
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu)
|
rs377227909
|
0.00005
|
NM_172107.4(KCNQ2):c.1024-46C>T
|
rs748824215
|
0.00004
|
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu)
|
rs139164500
|
0.00004
|
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=)
|
rs771845478
|
0.00004
|
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=)
|
rs1801385
|
0.00004
|
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=)
|
rs144909985
|
0.00004
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_172107.4(KCNQ2):c.1888-3C>T
|
rs772971971
|
0.00004
|
NM_172107.4(KCNQ2):c.1940G>A (p.Arg647Gln)
|
rs765583552
|
0.00004
|
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu)
|
rs553337046
|
0.00004
|
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys)
|
rs768284828
|
0.00004
|
NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)
|
rs587780366
|
0.00004
|
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)
|
rs758071891
|
0.00004
|
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=)
|
rs370777198
|
0.00004
|
NM_172107.4(KCNQ2):c.1137C>T (p.Tyr379=)
|
rs781144303
|
0.00003
|
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=)
|
rs147453497
|
0.00003
|
NM_172107.4(KCNQ2):c.1301+6G>A
|
rs377304987
|
0.00003
|
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)
|
rs781778855
|
0.00003
|
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro)
|
rs200251507
|
0.00003
|
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=)
|
rs766273173
|
0.00003
|
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=)
|
rs200224824
|
0.00003
|
NM_172107.4(KCNQ2):c.515-9G>A
|
rs755243604
|
0.00003
|
NM_172107.4(KCNQ2):c.691-5C>T
|
rs886056921
|
0.00003
|
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=)
|
rs757596960
|
0.00002
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_172107.4(KCNQ2):c.1526-4C>T
|
rs1396502704
|
0.00002
|
NM_172107.4(KCNQ2):c.1572C>T (p.Pro524=)
|
rs779813699
|
0.00002
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
NM_172107.4(KCNQ2):c.1887+30G>T
|
rs377269898
|
0.00002
|
NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp)
|
rs755823361
|
0.00002
|
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile)
|
rs759258191
|
0.00002
|
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)
|
rs587780367
|
0.00002
|
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu)
|
rs377633507
|
0.00002
|
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val)
|
rs1131691879
|
0.00002
|
NM_172107.4(KCNQ2):c.477G>T (p.Gly159=)
|
rs757792092
|
0.00002
|
NM_172107.4(KCNQ2):c.531C>T (p.Ile177=)
|
rs1170316817
|
0.00002
|
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=)
|
rs764119402
|
0.00002
|
NM_172107.4(KCNQ2):c.691-13G>A
|
rs547887704
|
0.00002
|
NM_172107.4(KCNQ2):c.*3C>T
|
rs773433015
|
0.00001
|
NM_172107.4(KCNQ2):c.*6C>T
|
rs746924909
|
0.00001
|
NM_172107.4(KCNQ2):c.1041C>T (p.Tyr347=)
|
rs770904422
|
0.00001
|
NM_172107.4(KCNQ2):c.1099G>A (p.Val367Ile)
|
rs149523683
|
0.00001
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly)
|
rs1240338507
|
0.00001
|
NM_172107.4(KCNQ2):c.1218-18T>G
|
rs908502131
|
0.00001
|
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)
|
rs752579642
|
0.00001
|
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser)
|
rs748120886
|
0.00001
|
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=)
|
rs951436020
|
0.00001
|
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His)
|
rs758074713
|
0.00001
|
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)
|
rs748785128
|
0.00001
|
NM_172107.4(KCNQ2):c.1408G>A (p.Asp470Asn)
|
rs751907059
|
0.00001
|
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys)
|
rs759338332
|
0.00001
|
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys)
|
rs540461827
|
0.00001
|
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His)
|
rs1064797286
|
0.00001
|
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=)
|
rs780293757
|
0.00001
|
NM_172107.4(KCNQ2):c.1511G>A (p.Arg504Gln)
|
rs758575791
|
0.00001
|
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=)
|
rs750635636
|
0.00001
|
NM_172107.4(KCNQ2):c.1526-6C>T
|
rs763503121
|
0.00001
|
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg)
|
rs772669887
|
0.00001
|
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser)
|
rs371162714
|
0.00001
|
NM_172107.4(KCNQ2):c.1612G>A (p.Val538Ile)
|
rs1186571905
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_172107.4(KCNQ2):c.1631+5G>A
|
rs1178354607
|
0.00001
|
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile)
|
rs757608181
|
0.00001
|
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln)
|
rs760984494
|
0.00001
|
NM_172107.4(KCNQ2):c.1678C>A (p.Arg560=)
|
rs773171451
|
0.00001
|
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)
|
rs118192236
|
0.00001
|
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val)
|
rs746079131
|
0.00001
|
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=)
|
rs587780368
|
0.00001
|
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys)
|
rs780942181
|
0.00001
|
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp)
|
rs772405187
|
0.00001
|
NM_172107.4(KCNQ2):c.1929C>T (p.Ile643=)
|
rs760044575
|
0.00001
|
NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg)
|
rs766755499
|
0.00001
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)
|
rs764444302
|
0.00001
|
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met)
|
rs373902907
|
0.00001
|
NM_172107.4(KCNQ2):c.2071C>T (p.Arg691Cys)
|
rs1223286018
|
0.00001
|
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)
|
rs980128101
|
0.00001
|
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=)
|
rs777993694
|
0.00001
|
NM_172107.4(KCNQ2):c.2133G>A (p.Gln711=)
|
rs946287354
|
0.00001
|
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=)
|
rs765186960
|
0.00001
|
NM_172107.4(KCNQ2):c.2172G>A (p.Pro724=)
|
rs368268958
|
0.00001
|
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)
|
rs755013341
|
0.00001
|
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His)
|
rs758530960
|
0.00001
|
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=)
|
rs753696924
|
0.00001
|
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser)
|
rs769045070
|
0.00001
|
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
|
rs748400155
|
0.00001
|
NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp)
|
rs745990385
|
0.00001
|
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)
|
rs559610397
|
0.00001
|
NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)
|
rs781323405
|
0.00001
|
NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val)
|
rs796052661
|
0.00001
|
NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=)
|
rs779798310
|
0.00001
|
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)
|
rs745508762
|
0.00001
|
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)
|
rs12481082
|
0.00001
|
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)
|
rs536366837
|
0.00001
|
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly)
|
rs1006613253
|
0.00001
|
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met)
|
rs749164961
|
0.00001
|
NM_172107.4(KCNQ2):c.387+10G>A
|
rs371918220
|
0.00001
|
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=)
|
rs762713462
|
0.00001
|
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met)
|
rs773083197
|
0.00001
|
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg)
|
rs754250122
|
0.00001
|
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=)
|
rs772452810
|
0.00001
|
NM_172107.4(KCNQ2):c.817-11C>T
|
rs555632610
|
0.00001
|
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)
|
rs915805727
|
0.00001
|
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=)
|
rs539406802
|
0.00001
|
GRCh37/hg19 20q13.33(chr20:62002791-62054955)x1
|
|
|
GRCh37/hg19 20q13.33(chr20:62037997-62103816)x1
|
|
|
GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1
|
|
|
GRCh37/hg19 20q13.33(chr20:62055530-62065256)x3
|
|
|
GRCh37/hg19 20q13.33(chr20:62075098-62119121)x4
|
|
|
GRCh37/hg19 20q13.33(chr20:62103521-62103816)x1
|
|
|
NM_172107.2(KCNQ2):c.297del
|
rs886041611
|
|
NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC
|
rs1555854857
|
|
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC
|
rs1555854856
|
|
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC
|
rs1555854855
|
|
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC
|
rs1555854852
|
|
NM_172107.4(KCNQ2):c.*23C>A
|
rs371825912
|
|
NM_172107.4(KCNQ2):c.*295C>T
|
rs34690549
|
|
NM_172107.4(KCNQ2):c.*5904C>G
|
|
|
NM_172107.4(KCNQ2):c.*5915C>T
|
|
|
NM_172107.4(KCNQ2):c.*5949G>A
|
|
|
NM_172107.4(KCNQ2):c.*5965A>G
|
|
|
NM_172107.4(KCNQ2):c.-150C>A
|
rs554261385
|
|
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)
|
rs796052641
|
|
NM_172107.4(KCNQ2):c.1007C>T (p.Ala336Val)
|
rs2145712091
|
|
NM_172107.4(KCNQ2):c.1009G>A (p.Ala337Thr)
|
rs796052642
|
|
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly)
|
rs796052643
|
|
NM_172107.4(KCNQ2):c.1014C>T (p.Gly338=)
|
|
|
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met)
|
rs752073942
|
|
NM_172107.4(KCNQ2):c.1023+94G>T
|
|
|
NM_172107.4(KCNQ2):c.102del (p.Thr35fs)
|
rs1568986619
|
|
NM_172107.4(KCNQ2):c.1041C>G (p.Tyr347Ter)
|
rs770904422
|
|
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val)
|
rs1568916986
|
|
NM_172107.4(KCNQ2):c.1045A>G (p.Thr349Ala)
|
rs2145680256
|
|
NM_172107.4(KCNQ2):c.1049A>T (p.Asn350Ile)
|
rs772800738
|
|
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)
|
rs118192218
|
|
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His)
|
rs796052645
|
|
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu)
|
rs200395340
|
|
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala)
|
rs1064793334
|
|
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1078T>G (p.Trp360Gly)
|
|
|
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter)
|
rs796052644
|
|
NM_172107.4(KCNQ2):c.1080_1083del (p.Trp360fs)
|
rs1600732159
|
|
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys)
|
rs794727935
|
|
NM_172107.4(KCNQ2):c.1089C>A (p.Tyr363Ter)
|
rs1185859533
|
|
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
|
|
|
NM_172107.4(KCNQ2):c.1099G>C (p.Val367Leu)
|
|
|
NM_172107.4(KCNQ2):c.1103C>G (p.Thr368Ser)
|
rs900170305
|
|
NM_172107.4(KCNQ2):c.1104del (p.Val369fs)
|
rs2080902419
|
|
NM_172107.4(KCNQ2):c.1111A>C (p.Met371Leu)
|
rs1038643289
|
|
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs)
|
rs1600731888
|
|
NM_172107.4(KCNQ2):c.1118+2T>C
|
rs886042605
|
|
NM_172107.4(KCNQ2):c.1118+2T>G
|
rs886042605
|
|
NM_172107.4(KCNQ2):c.1118+3A>G
|
rs1057516112
|
|
NM_172107.4(KCNQ2):c.1118+69C>A
|
rs142571798
|
|
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser)
|
rs1260593444
|
|
NM_172107.4(KCNQ2):c.1136A>T (p.Tyr379Phe)
|
rs752773828
|
|
NM_172107.4(KCNQ2):c.1137C>A (p.Tyr379Ter)
|
|
|
NM_172107.4(KCNQ2):c.1141dup (p.Ala381fs)
|
rs2080781132
|
|
NM_172107.4(KCNQ2):c.1142C>A (p.Ala381Asp)
|
rs2145655065
|
|
NM_172107.4(KCNQ2):c.1149-3C>T
|
rs1555860723
|
|
NM_172107.4(KCNQ2):c.1149-43G>C
|
rs75020642
|
|
NM_172107.4(KCNQ2):c.1149-6_1149-5dup
|
rs992228422
|
|
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn)
|
rs1057519123
|
|
NM_172107.4(KCNQ2):c.1159C>G (p.Pro387Ala)
|
rs747158839
|
|
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)
|
rs796052657
|
|
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
|
|
|
NM_172107.4(KCNQ2):c.1172T>C (p.Leu391Pro)
|
rs796052646
|
|
NM_172107.4(KCNQ2):c.1178del (p.Leu393fs)
|
rs1555860693
|
|
NM_172107.4(KCNQ2):c.1198A>G (p.Lys400Glu)
|
rs796052647
|
|
NM_172107.4(KCNQ2):c.1204G>A (p.Gly402Arg)
|
|
|
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter)
|
rs1064794001
|
|
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
|
|
|
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=)
|
rs752280961
|
|
NM_172107.4(KCNQ2):c.1217+3C>T
|
|
|
NM_172107.4(KCNQ2):c.1217+46_1217+48del
|
rs553228574
|
|
NM_172107.4(KCNQ2):c.1218-12dup
|
rs761233540
|
|
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys)
|
rs1555859111
|
|
NM_172107.4(KCNQ2):c.1242_1244del (p.Pro415del)
|
rs2145615490
|
|
NM_172107.4(KCNQ2):c.1248-223dup
|
rs139786707
|
|
NM_172107.4(KCNQ2):c.1248-72C>T
|
rs12481298
|
|
NM_172107.4(KCNQ2):c.1248-75G>A
|
|
|
NM_172107.4(KCNQ2):c.1249A>G (p.Lys417Glu)
|
rs2145588263
|
|
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg)
|
rs139164500
|
|
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val)
|
rs749554385
|
|
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn)
|
rs776223064
|
|
NM_172107.4(KCNQ2):c.1301+8G>T
|
rs532111320
|
|
NM_172107.4(KCNQ2):c.1301G>A (p.Ser434Asn)
|
rs2145587725
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insCTGTCTGA
|
rs1555854852
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTT
|
rs1555854853
|
|
NM_172107.4(KCNQ2):c.1302-205C>T
|
rs199705502
|
|
NM_172107.4(KCNQ2):c.1302-222A>G
|
rs185309057
|
|
NM_172107.4(KCNQ2):c.1302-27_1302-26insTCTGTTTG
|
rs745798144
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[5]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
|
|
|
NM_172107.4(KCNQ2):c.1329C>G (p.Val443=)
|
rs934839370
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.1356C>T (p.Ala452=)
|
|
|
NM_172107.4(KCNQ2):c.1357_1373del (p.Lys453fs)
|
rs1555854643
|
|
NM_172107.4(KCNQ2):c.1368del (p.Ser457fs)
|
rs2145556956
|
|
NM_172107.4(KCNQ2):c.144del (p.Lys49fs)
|
rs1555881809
|
|
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His)
|
rs769414365
|
|
NM_172107.4(KCNQ2):c.1502C>T (p.Ala501Val)
|
rs1465109197
|
|
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
|
rs1801545
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
NM_172107.4(KCNQ2):c.1508C>G (p.Ser503Ter)
|
rs1131691734
|
|
NM_172107.4(KCNQ2):c.1525+147C>T
|
rs143936389
|
|
NM_172107.4(KCNQ2):c.1526-3C>A
|
rs568408012
|
|
NM_172107.4(KCNQ2):c.1526-6C>A
|
rs763503121
|
|
NM_172107.4(KCNQ2):c.1539del (p.Gly514fs)
|
rs1064794686
|
|
NM_172107.4(KCNQ2):c.153C>G (p.Gly51=)
|
rs2145921682
|
|
NM_172107.4(KCNQ2):c.1541G>A (p.Gly514Glu)
|
rs1358495877
|
|
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)
|
rs117067974
|
|
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
|
|
|
NM_172107.4(KCNQ2):c.1583_1584del (p.Val528fs)
|
rs2080211640
|
|
NM_172107.4(KCNQ2):c.1604dup (p.Leu536fs)
|
rs886041608
|
|
NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)
|
|
|
NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val)
|
rs796052648
|
|
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)
|
rs118192232
|
|
NM_172107.4(KCNQ2):c.1631+1G>A
|
rs1057516121
|
|
NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr)
|
rs1057518492
|
|
NM_172107.4(KCNQ2):c.1632-11C>G
|
|
|
NM_172107.4(KCNQ2):c.1632-181_1632-180del
|
rs3215651
|
|
NM_172107.4(KCNQ2):c.1632-1G>A
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val)
|
rs397515420
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)
|
rs267607198
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln)
|
rs1057517919
|
|
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)
|
rs796052652
|
|
NM_172107.4(KCNQ2):c.1686C>A (p.Tyr562Ter)
|
rs1057520773
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1687G>T (p.Asp563Tyr)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)
|
|
|
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
|
|
|
NM_172107.4(KCNQ2):c.1695G>A (p.Met565Ile)
|
rs2080188612
|
|
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile)
|
rs748571840
|
|
NM_172107.4(KCNQ2):c.1700T>A (p.Val567Asp)
|
rs1131691518
|
|
NM_172107.4(KCNQ2):c.1709del (p.Gln570fs)
|
rs1555853549
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1733T>C (p.Met578Thr)
|
rs1555853524
|
|
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile)
|
rs796052655
|
|
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet)
|
rs796052665
|
|
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly)
|
rs118192236
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1742G>T (p.Arg581Leu)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)
|
rs796052656
|
|
NM_172107.4(KCNQ2):c.1763+1592G>A
|
|
|
NM_172107.4(KCNQ2):c.1764-1G>C
|
rs796052649
|
|
NM_172107.4(KCNQ2):c.1764-5G>A
|
|
|
NM_172107.4(KCNQ2):c.1769A>C (p.Asp590Ala)
|
rs2145497758
|
|
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
|
|
|
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)
|
rs1555851550
|
|
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro)
|
rs866843916
|
|
NM_172107.4(KCNQ2):c.1816A>T (p.Lys606Ter)
|
rs1555851516
|
|
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs)
|
rs1555851513
|
|
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs)
|
rs2145497168
|
|
NM_172107.4(KCNQ2):c.1848C>T (p.Asp616=)
|
|
|
NM_172107.4(KCNQ2):c.1851del (p.Ser618fs)
|
rs1601548976
|
|
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=)
|
rs774516728
|
|
NM_172107.4(KCNQ2):c.1880del (p.Glu627fs)
|
rs1601548832
|
|
NM_172107.4(KCNQ2):c.1887+1G>T
|
rs796052670
|
|
NM_172107.4(KCNQ2):c.1887+217T>C
|
rs6011817
|
|
NM_172107.4(KCNQ2):c.1888del (p.Val630Serfs)
|
rs796052668
|
|
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
|
rs1021032210
|
|
NM_172107.4(KCNQ2):c.1930dup (p.Tyr644fs)
|
rs796052666
|
|
NM_172107.4(KCNQ2):c.1955C>G (p.Pro652Arg)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.1955del (p.Pro652fs)
|
|
|
NM_172107.4(KCNQ2):c.1964C>A (p.Thr655Asn)
|
rs1459962137
|
|
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
|
|
|
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)
|
rs118192185
|
|
NM_172107.4(KCNQ2):c.2036A>G (p.His679Arg)
|
|
|
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn)
|
rs1380546879
|
|
NM_172107.4(KCNQ2):c.204del (p.Lys69fs)
|
rs118192188
|
|
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs)
|
rs118192188
|
|
NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser)
|
rs577281854
|
|
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)
|
rs2079971597
|
|
NM_172107.4(KCNQ2):c.2085del (p.Thr696fs)
|
rs1131691658
|
|
NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter)
|
rs1601544177
|
|
NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu)
|
rs1426709866
|
|
NM_172107.4(KCNQ2):c.2110C>T (p.Pro704Ser)
|
rs1242898915
|
|
NM_172107.4(KCNQ2):c.2114dup (p.Ala706fs)
|
rs1555850868
|
|
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs)
|
rs796052667
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)
|
rs118192244
|
|
NM_172107.4(KCNQ2):c.2145C>G (p.Ser715=)
|
rs1601543762
|
|
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)
|
rs756563523
|
|
NM_172107.4(KCNQ2):c.2200G>A (p.Gly734Arg)
|
|
|
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala)
|
rs1064797020
|
|
NM_172107.4(KCNQ2):c.222C>G (p.Tyr74Ter)
|
rs796052613
|
|
NM_172107.4(KCNQ2):c.2244C>T (p.His748=)
|
rs376327268
|
|
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)
|
rs796052658
|
|
NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter)
|
rs796052658
|
|
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)
|
rs587780366
|
|
NM_172107.4(KCNQ2):c.22G>T (p.Gly8Cys)
|
rs769045070
|
|
NM_172107.4(KCNQ2):c.2321G>T (p.Cys774Phe)
|
rs762596565
|
|
NM_172107.4(KCNQ2):c.2323A>G (p.Arg775Gly)
|
|
|
NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=)
|
rs745990385
|
|
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu)
|
rs781121496
|
|
NM_172107.4(KCNQ2):c.2369T>C (p.Ile790Thr)
|
rs2145483858
|
|
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)
|
rs377227909
|
|
NM_172107.4(KCNQ2):c.2399G>T (p.Arg800Leu)
|
|
|
NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)
|
rs1064793852
|
|
NM_172107.4(KCNQ2):c.2403del (p.Phe802fs)
|
rs2145483535
|
|
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)
|
rs796052659
|
|
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu)
|
rs1202025157
|
|
NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr)
|
rs796052660
|
|
NM_172107.4(KCNQ2):c.2477C>G (p.Pro826Arg)
|
rs2145482883
|
|
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=)
|
rs2145482676
|
|
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val)
|
rs1555850289
|
|
NM_172107.4(KCNQ2):c.2506G>C (p.Glu836Gln)
|
|
|
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
|
|
|
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
|
|
|
NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=)
|
rs1568858578
|
|
NM_172107.4(KCNQ2):c.2555del (p.Pro852fs)
|
rs1064793317
|
|
NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)
|
|
|
NM_172107.4(KCNQ2):c.2583C>A (p.Pro861=)
|
rs1601541414
|
|
NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu)
|
rs796052662
|
|
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)
|
rs118192245
|
|
NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro)
|
rs774595024
|
|
NM_172107.4(KCNQ2):c.2618G>A (p.Ter873=)
|
|
|
NM_172107.4(KCNQ2):c.274dup (p.Ala92fs)
|
rs886041890
|
|
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter)
|
rs1555881741
|
|
NM_172107.4(KCNQ2):c.286dup (p.His96fs)
|
rs1085307905
|
|
NM_172107.4(KCNQ2):c.287A>C (p.His96Pro)
|
rs868055567
|
|
NM_172107.4(KCNQ2):c.294C>G (p.Tyr98Ter)
|
rs796052614
|
|
NM_172107.4(KCNQ2):c.297-12232G>A
|
|
|
NM_172107.4(KCNQ2):c.297-12263G>A
|
|
|
NM_172107.4(KCNQ2):c.297-2A>G
|
rs796052615
|
|
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del)
|
rs1064795435
|
|
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile)
|
rs1555874588
|
|
NM_172107.4(KCNQ2):c.311T>C (p.Phe104Ser)
|
rs1064796940
|
|
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro)
|
rs1555874569
|
|
NM_172107.4(KCNQ2):c.329_332del (p.Ser110fs)
|
rs1064796151
|
|
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs)
|
rs796052663
|
|
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe)
|
rs796052616
|
|
NM_172107.4(KCNQ2):c.338_339delinsAT (p.Ser113Tyr)
|
rs1555874555
|
|
NM_172107.4(KCNQ2):c.340A>C (p.Thr114Pro)
|
rs1057516076
|
|
NM_172107.4(KCNQ2):c.359A>G (p.Lys120Arg)
|
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)
|
rs1568944870
|
|
NM_172107.4(KCNQ2):c.379T>G (p.Tyr127Asp)
|
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.387+24G>C
|
rs113724995
|
|
NM_172107.4(KCNQ2):c.387+24G>T
|
rs113724995
|
|
NM_172107.4(KCNQ2):c.388-140_388-139insGGGGCCCTTT
|
rs11472004
|
|
NM_172107.4(KCNQ2):c.388-1G>C
|
|
|
NM_172107.4(KCNQ2):c.388-299_388-298del
|
rs879328444
|
|
NM_172107.4(KCNQ2):c.388-9C>G
|
rs371784719
|
|
NM_172107.4(KCNQ2):c.388-9C>T
|
rs371784719
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val)
|
rs2081381281
|
|
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
|
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.439del (p.Ala147fs)
|
rs1555873981
|
|
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
|
|
|
NM_172107.4(KCNQ2):c.458G>A (p.Arg153Gln)
|
|
|
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys)
|
rs886042698
|
|
NM_172107.4(KCNQ2):c.478C>T (p.Arg160Trp)
|
rs2081378361
|
|
NM_172107.4(KCNQ2):c.482T>C (p.Leu161Pro)
|
rs2145778948
|
|
NM_172107.4(KCNQ2):c.498A>G (p.Lys166=)
|
rs2145778834
|
|
NM_172107.4(KCNQ2):c.505T>C (p.Cys169Arg)
|
rs1555873939
|
|
NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe)
|
rs1064793392
|
|
NM_172107.4(KCNQ2):c.508G>C (p.Val170Leu)
|
rs2145778732
|
|
NM_172107.4(KCNQ2):c.514+172_514+173del
|
rs144357469
|
|
NM_172107.4(KCNQ2):c.514+5G>C
|
rs2081377457
|
|
NM_172107.4(KCNQ2):c.518dup (p.Met174fs)
|
rs1555873813
|
|
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu)
|
rs1057516082
|
|
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr)
|
rs1555873790
|
|
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=)
|
rs1447421194
|
|
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met)
|
rs1085307920
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.554C>T (p.Ala185Val)
|
rs1131691529
|
|
NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser)
|
rs2081363570
|
|
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro)
|
rs1064797285
|
|
NM_172107.4(KCNQ2):c.578C>A (p.Ala193Asp)
|
rs796052619
|
|
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)
|
rs796052620
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.599T>C (p.Leu200Pro)
|
rs796052622
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172107.4(KCNQ2):c.611A>G (p.Gln204Arg)
|
rs796052624
|
|
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His)
|
rs796052625
|
|
NM_172107.4(KCNQ2):c.612G>T (p.Gln204His)
|
rs796052625
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)
|
rs118192200
|
|
NM_172107.4(KCNQ2):c.624del (p.Met208fs)
|
rs886039485
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.629G>T (p.Arg210Leu)
|
|
|
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val)
|
rs1057524599
|
|
NM_172107.4(KCNQ2):c.635A>T (p.Asp212Val)
|
rs118192202
|
|
NM_172107.4(KCNQ2):c.636C>A (p.Asp212Glu)
|
rs796052627
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.641G>C (p.Arg214Pro)
|
rs1057518555
|
|
NM_172107.4(KCNQ2):c.647G>T (p.Gly216Val)
|
|
|
NM_172107.4(KCNQ2):c.649_650del (p.Thr217fs)
|
rs2081359429
|
|
NM_172107.4(KCNQ2):c.654G>A (p.Trp218Ter)
|
rs1555873683
|
|
NM_172107.4(KCNQ2):c.655A>G (p.Lys219Glu)
|
|
|
NM_172107.4(KCNQ2):c.657G>C (p.Lys219Asn)
|
rs770290221
|
|
NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr)
|
rs1555873665
|
|
NM_172107.4(KCNQ2):c.691-128GTG[2]
|
rs372494294
|
|
NM_172107.4(KCNQ2):c.691-141_691-140insTGGTGGTGA
|
rs1568933640
|
|
NM_172107.4(KCNQ2):c.691-149G>A
|
rs796175666
|
|
NM_172107.4(KCNQ2):c.691-165_691-164insTGA
|
rs879666633
|
|
NM_172107.4(KCNQ2):c.691-170A>G
|
rs202133311
|
|
NM_172107.4(KCNQ2):c.691-191GTG[4]
|
rs749330439
|
|
NM_172107.4(KCNQ2):c.691-195_691-194insTGGTGG
|
rs1568934026
|
|
NM_172107.4(KCNQ2):c.691-197A>G
|
rs62208030
|
|
NM_172107.4(KCNQ2):c.691-205_691-204insT
|
rs1568934111
|
|
NM_172107.4(KCNQ2):c.691-263ATGGTG[3]
|
rs1451409107
|
|
NM_172107.4(KCNQ2):c.691-311GTG[5]
|
rs747940691
|
|
NM_172107.4(KCNQ2):c.691-311GTG[6]
|
rs747940691
|
|
NM_172107.4(KCNQ2):c.691-311GTG[7]
|
rs747940691
|
|
NM_172107.4(KCNQ2):c.691-314_691-312del
|
rs1348911644
|
|
NM_172107.4(KCNQ2):c.691-31_691-29del
|
rs374464103
|
|
NM_172107.4(KCNQ2):c.691-320A>G
|
rs868435946
|
|
NM_172107.4(KCNQ2):c.691-329GTG[2]
|
rs1367220510
|
|
NM_172107.4(KCNQ2):c.691G>C (p.Glu231Gln)
|
rs1064794063
|
|
NM_172107.4(KCNQ2):c.692A>G (p.Glu231Gly)
|
rs796052629
|
|
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)
|
rs794727741
|
|
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr)
|
rs2081192615
|
|
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu)
|
rs747050726
|
|
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)
|
rs147882199
|
|
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
|
|
|
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)
|
rs796052630
|
|
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.743T>C (p.Phe248Ser)
|
rs1057518068
|
|
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)
|
rs2081190344
|
|
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter)
|
rs2145735982
|
|
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly)
|
rs794727739
|
|
NM_172107.4(KCNQ2):c.764A>G (p.Lys255Arg)
|
rs1555871862
|
|
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
|
|
|
NM_172107.4(KCNQ2):c.768G>A (p.Gly256=)
|
|
|
NM_172107.4(KCNQ2):c.769G>T (p.Glu257Ter)
|
rs1555871853
|
|
NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly)
|
rs1057518489
|
|
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn)
|
rs796052632
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly)
|
rs2081187692
|
|
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)
|
rs2145735332
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
NM_172107.4(KCNQ2):c.806G>T (p.Trp269Leu)
|
rs796052633
|
|
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.809G>A (p.Trp270Ter)
|
rs796052634
|
|
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro)
|
rs1057519227
|
|
NM_172107.4(KCNQ2):c.816+1G>A
|
rs1057519124
|
|
NM_172107.4(KCNQ2):c.816+1G>T
|
rs1057519124
|
|
NM_172107.4(KCNQ2):c.817-1_817delinsAT
|
rs2145719797
|
|
NM_172107.4(KCNQ2):c.818T>A (p.Ile273Asn)
|
rs796052635
|
|
NM_172107.4(KCNQ2):c.819C>G (p.Ile273Met)
|
rs771282785
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.823C>G (p.Leu275Val)
|
rs2145719697
|
|
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile)
|
rs1057516095
|
|
NM_172107.4(KCNQ2):c.833T>A (p.Ile278Asn)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.842G>A (p.Gly281Glu)
|
rs1064795489
|
|
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.848A>G (p.Lys283Arg)
|
rs796052637
|
|
NM_172107.4(KCNQ2):c.854C>T (p.Pro285Leu)
|
rs1057516097
|
|
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs)
|
rs1555870470
|
|
NM_172107.4(KCNQ2):c.860C>T (p.Thr287Ile)
|
rs727503973
|
|
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)
|
rs1057516098
|
|
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)
|
rs397514582
|
|
NM_172107.4(KCNQ2):c.875_876delinsCCT (p.Leu292fs)
|
rs796052664
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)
|
rs775918190
|
|
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)
|
rs74315390
|
|
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro)
|
rs74315390
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.927+1G>A
|
rs1555870346
|
|
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)
|
rs1568925719
|
|
NM_172107.4(KCNQ2):c.932T>A (p.Ile311Asn)
|
rs1131691356
|
|
NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser)
|
rs1057518619
|
|
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)
|
rs796052639
|
|
NM_172107.4(KCNQ2):c.940T>C (p.Ser314Pro)
|
rs1064795058
|
|
NM_172107.4(KCNQ2):c.94C>G (p.Pro32Ala)
|
|
|
NM_172107.4(KCNQ2):c.956A>G (p.Lys319Arg)
|
rs1057524860
|
|
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)
|
rs1057516103
|
|
NM_172107.4(KCNQ2):c.981_985delinsCCCGGCAGCAGG (p.Lys327fs)
|
rs1555869796
|
|
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn)
|
rs1555869803
|
|
NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser)
|
rs1064796535
|
|
NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr)
|
rs1568925523
|
|
NM_172107.4(KCNQ2):c.992del (p.Lys331fs)
|
rs886042010
|
|
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys)
|
rs796052640
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)
|
rs118192216
|
|