NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_172107.4(KCNQ2):c.388-26G>T
|
rs6062939
|
0.21189
|
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.1302-18_1302-17insTGTCTGTT
|
rs1555854850
|
0.03520
|
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=)
|
rs187252584
|
0.00635
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)
|
rs139587368
|
0.00506
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)
|
rs61737409
|
0.00329
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=)
|
rs145415996
|
0.00166
|
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=)
|
rs116087798
|
0.00145
|
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.1887+17G>A
|
rs369457896
|
0.00091
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=)
|
rs373897282
|
0.00054
|
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=)
|
rs35430888
|
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.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.2535C>G (p.Leu845=)
|
rs199621855
|
0.00032
|
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=)
|
rs370155790
|
0.00031
|
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu)
|
rs201701585
|
0.00022
|
NM_172107.4(KCNQ2):c.2049C>T (p.His683=)
|
rs150982653
|
0.00016
|
NM_172107.4(KCNQ2):c.402C>T (p.Ile134=)
|
rs140712277
|
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.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.1632-18C>A
|
rs368910668
|
0.00011
|
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)
|
rs774002673
|
0.00011
|
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)
|
rs563437123
|
0.00011
|
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)
|
rs3810472
|
0.00011
|
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=)
|
rs370174915
|
0.00011
|
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)
|
rs368720575
|
0.00010
|
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)
|
rs141951341
|
0.00010
|
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg)
|
rs142729516
|
0.00010
|
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=)
|
rs764525788
|
0.00010
|
NM_172107.4(KCNQ2):c.1525+15A>G
|
rs751304217
|
0.00009
|
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.927+20C>T
|
rs377575523
|
0.00009
|
NM_172107.4(KCNQ2):c.1302-10G>A
|
rs756712314
|
0.00008
|
NM_172107.4(KCNQ2):c.1635C>A (p.Val545=)
|
rs375045009
|
0.00008
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
NM_172107.4(KCNQ2):c.1239G>A (p.Pro413=)
|
rs372146620
|
0.00007
|
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr)
|
rs769558746
|
0.00007
|
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr)
|
rs543477138
|
0.00007
|
NM_172107.4(KCNQ2):c.1764-6C>T
|
rs118192239
|
0.00006
|
NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=)
|
rs542053755
|
0.00006
|
NM_172107.4(KCNQ2):c.2196C>T (p.Pro732=)
|
rs778953713
|
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.297-10C>G
|
rs763193303
|
0.00006
|
NM_172107.4(KCNQ2):c.515-14C>T
|
rs781295968
|
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.1526-7C>G
|
rs761567082
|
0.00005
|
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.2454C>T (p.Asn818=)
|
rs748097158
|
0.00005
|
NM_172107.4(KCNQ2):c.2574C>T (p.Gly858=)
|
rs370089050
|
0.00005
|
NM_172107.4(KCNQ2):c.1023+19C>T
|
rs761878820
|
0.00004
|
NM_172107.4(KCNQ2):c.1023+9A>G
|
rs201787699
|
0.00004
|
NM_172107.4(KCNQ2):c.1071C>T (p.His357=)
|
rs368352571
|
0.00004
|
NM_172107.4(KCNQ2):c.1149-20C>T
|
rs754997316
|
0.00004
|
NM_172107.4(KCNQ2):c.1218-6T>C
|
rs755843563
|
0.00004
|
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu)
|
rs139164500
|
0.00004
|
NM_172107.4(KCNQ2):c.1301+15G>A
|
rs571128290
|
0.00004
|
NM_172107.4(KCNQ2):c.1301+5C>T
|
rs200872349
|
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.1602G>A (p.Pro534=)
|
rs775089685
|
0.00004
|
NM_172107.4(KCNQ2):c.1626C>T (p.Ala542=)
|
rs564614151
|
0.00004
|
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=)
|
rs144909985
|
0.00004
|
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val)
|
rs796052612
|
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.190G>T (p.Ala64Ser)
|
rs780110473
|
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.2056A>G (p.Ile686Val)
|
rs558926802
|
0.00004
|
NM_172107.4(KCNQ2):c.2122C>G (p.Pro708Ala)
|
rs767485841
|
0.00004
|
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys)
|
rs768284828
|
0.00004
|
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=)
|
rs552151799
|
0.00004
|
NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)
|
rs587780366
|
0.00004
|
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu)
|
rs774206764
|
0.00004
|
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)
|
rs758071891
|
0.00004
|
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=)
|
rs749602639
|
0.00004
|
NM_172107.4(KCNQ2):c.691-14C>T
|
rs200448016
|
0.00004
|
NM_172107.4(KCNQ2):c.816+10G>T
|
rs201012161
|
0.00004
|
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=)
|
rs370777198
|
0.00004
|
NM_172107.4(KCNQ2):c.1118+8C>T
|
rs754114486
|
0.00003
|
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.1374G>A (p.Pro458=)
|
rs777441037
|
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.1632-8C>T
|
rs751010696
|
0.00003
|
NM_172107.4(KCNQ2):c.1914C>T (p.Asp638=)
|
rs367845107
|
0.00003
|
NM_172107.4(KCNQ2):c.1992G>A (p.Pro664=)
|
rs866315162
|
0.00003
|
NM_172107.4(KCNQ2):c.2040C>T (p.Val680=)
|
rs368050380
|
0.00003
|
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=)
|
rs766273173
|
0.00003
|
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His)
|
rs773194884
|
0.00003
|
NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=)
|
rs776224647
|
0.00003
|
NM_172107.4(KCNQ2):c.2127T>C (p.Pro709=)
|
rs113174319
|
0.00003
|
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)
|
rs761544880
|
0.00003
|
NM_172107.4(KCNQ2):c.2208C>T (p.His736=)
|
rs566020693
|
0.00003
|
NM_172107.4(KCNQ2):c.2259C>T (p.Ser753=)
|
rs749802787
|
0.00003
|
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr)
|
rs773822234
|
0.00003
|
NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=)
|
rs572267938
|
0.00003
|
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=)
|
rs200224824
|
0.00003
|
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=)
|
rs780770793
|
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.1044C>T (p.Ala348=)
|
rs749122254
|
0.00002
|
NM_172107.4(KCNQ2):c.1056G>A (p.Ser352=)
|
rs769146180
|
0.00002
|
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu)
|
rs777940990
|
0.00002
|
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=)
|
rs757596960
|
0.00002
|
NM_172107.4(KCNQ2):c.1260G>A (p.Pro420=)
|
rs1202103328
|
0.00002
|
NM_172107.4(KCNQ2):c.1352C>T (p.Ala451Val)
|
rs774027338
|
0.00002
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_172107.4(KCNQ2):c.1525+12C>T
|
rs767442522
|
0.00002
|
NM_172107.4(KCNQ2):c.1526-4C>T
|
rs1396502704
|
0.00002
|
NM_172107.4(KCNQ2):c.1526A>C (p.Glu509Ala)
|
rs959219090
|
0.00002
|
NM_172107.4(KCNQ2):c.1572C>T (p.Pro524=)
|
rs779813699
|
0.00002
|
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=)
|
rs753417293
|
0.00002
|
NM_172107.4(KCNQ2):c.1605C>T (p.Gly535=)
|
rs767958822
|
0.00002
|
NM_172107.4(KCNQ2):c.1631+19C>T
|
rs770084619
|
0.00002
|
NM_172107.4(KCNQ2):c.1726C>T (p.Leu576=)
|
rs745406707
|
0.00002
|
NM_172107.4(KCNQ2):c.1764-8C>A
|
rs776972460
|
0.00002
|
NM_172107.4(KCNQ2):c.1776C>T (p.Ile592=)
|
rs201868078
|
0.00002
|
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His)
|
rs1203495492
|
0.00002
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
NM_172107.4(KCNQ2):c.1998G>A (p.Pro666=)
|
rs777059029
|
0.00002
|
NM_172107.4(KCNQ2):c.2004G>A (p.Pro668=)
|
rs771807099
|
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.2523C>T (p.Thr841=)
|
rs760979156
|
0.00002
|
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu)
|
rs377633507
|
0.00002
|
NM_172107.4(KCNQ2):c.2546G>T (p.Cys849Phe)
|
rs768731672
|
0.00002
|
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val)
|
rs1131691879
|
0.00002
|
NM_172107.4(KCNQ2):c.441C>T (p.Ala147=)
|
rs150930894
|
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.681C>T (p.Ala227=)
|
rs1472366685
|
0.00002
|
NM_172107.4(KCNQ2):c.691-13G>A
|
rs547887704
|
0.00002
|
NM_172107.4(KCNQ2):c.745C>T (p.Leu249=)
|
rs759151870
|
0.00002
|
NM_172107.4(KCNQ2):c.855C>G (p.Pro285=)
|
rs746960988
|
0.00002
|
NM_172107.4(KCNQ2):c.867C>T (p.Asn289=)
|
rs749934609
|
0.00002
|
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=)
|
rs764404303
|
0.00002
|
NM_172107.4(KCNQ2):c.1002C>T (p.Asn334=)
|
rs372442974
|
0.00001
|
NM_172107.4(KCNQ2):c.1005G>A (p.Pro335=)
|
rs760143489
|
0.00001
|
NM_172107.4(KCNQ2):c.1024-3C>T
|
rs2080907472
|
0.00001
|
NM_172107.4(KCNQ2):c.1024-5C>T
|
rs762121418
|
0.00001
|
NM_172107.4(KCNQ2):c.1041C>T (p.Tyr347=)
|
rs770904422
|
0.00001
|
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser)
|
rs984632499
|
0.00001
|
NM_172107.4(KCNQ2):c.1098G>A (p.Thr366=)
|
rs758961686
|
0.00001
|
NM_172107.4(KCNQ2):c.1099G>A (p.Val367Ile)
|
rs149523683
|
0.00001
|
NM_172107.4(KCNQ2):c.1103C>A (p.Thr368Asn)
|
rs900170305
|
0.00001
|
NM_172107.4(KCNQ2):c.1104C>T (p.Thr368=)
|
rs1292482268
|
0.00001
|
NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val)
|
rs1038643289
|
0.00001
|
NM_172107.4(KCNQ2):c.1118+5C>T
|
rs903746022
|
0.00001
|
NM_172107.4(KCNQ2):c.1119-19G>A
|
rs1428713160
|
0.00001
|
NM_172107.4(KCNQ2):c.1119-6T>C
|
rs1022260777
|
0.00001
|
NM_172107.4(KCNQ2):c.1119-7T>C
|
rs953495853
|
0.00001
|
NM_172107.4(KCNQ2):c.1138G>A (p.Gly380Arg)
|
rs764614789
|
0.00001
|
NM_172107.4(KCNQ2):c.1194G>A (p.Lys398=)
|
rs763988707
|
0.00001
|
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=)
|
rs756007198
|
0.00001
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
NM_172107.4(KCNQ2):c.1210G>A (p.Ala404Thr)
|
rs767250354
|
0.00001
|
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly)
|
rs1240338507
|
0.00001
|
NM_172107.4(KCNQ2):c.1218-13C>T
|
rs1177200397
|
0.00001
|
NM_172107.4(KCNQ2):c.1218-18T>G
|
rs908502131
|
0.00001
|
NM_172107.4(KCNQ2):c.1223A>T (p.Asp408Val)
|
rs1202656129
|
0.00001
|
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)
|
rs752579642
|
0.00001
|
NM_172107.4(KCNQ2):c.1230G>A (p.Pro410=)
|
rs767038163
|
0.00001
|
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu)
|
rs754682495
|
0.00001
|
NM_172107.4(KCNQ2):c.1248-14C>T
|
rs567439188
|
0.00001
|
NM_172107.4(KCNQ2):c.1248-4C>G
|
rs772465626
|
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.1291G>A (p.Gly431Arg)
|
rs746853951
|
0.00001
|
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His)
|
rs758074713
|
0.00001
|
NM_172107.4(KCNQ2):c.1324C>T (p.Arg442Cys)
|
rs1354411692
|
0.00001
|
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=)
|
rs748785128
|
0.00001
|
NM_172107.4(KCNQ2):c.1373C>T (p.Pro458Leu)
|
rs1206195455
|
0.00001
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln)
|
rs1459078042
|
0.00001
|
NM_172107.4(KCNQ2):c.1408G>A (p.Asp470Asn)
|
rs751907059
|
0.00001
|
NM_172107.4(KCNQ2):c.1413G>A (p.Gln471=)
|
rs6122117
|
0.00001
|
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys)
|
rs759338332
|
0.00001
|
NM_172107.4(KCNQ2):c.1486T>A (p.Phe496Ile)
|
rs762518963
|
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.1504G>A (p.Ala502Thr)
|
rs540103798
|
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.1526-20G>A
|
rs756285814
|
0.00001
|
NM_172107.4(KCNQ2):c.1526-2dup
|
rs1386754191
|
0.00001
|
NM_172107.4(KCNQ2):c.1526-3C>T
|
rs568408012
|
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.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr)
|
rs1038663676
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_172107.4(KCNQ2):c.1631+18C>T
|
rs773276077
|
0.00001
|
NM_172107.4(KCNQ2):c.1631+5G>A
|
rs1178354607
|
0.00001
|
NM_172107.4(KCNQ2):c.1631+8C>T
|
rs1406473226
|
0.00001
|
NM_172107.4(KCNQ2):c.1632-7C>T
|
rs779543926
|
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.1644C>T (p.Phe548=)
|
rs1241388377
|
0.00001
|
NM_172107.4(KCNQ2):c.169C>T (p.Pro57Ser)
|
rs1276943039
|
0.00001
|
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)
|
rs118192236
|
0.00001
|
NM_172107.4(KCNQ2):c.1763+20G>A
|
rs774318503
|
0.00001
|
NM_172107.4(KCNQ2):c.1777G>A (p.Val593Met)
|
rs372976131
|
0.00001
|
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val)
|
rs746079131
|
0.00001
|
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met)
|
rs1203090297
|
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.1823C>T (p.Pro608Leu)
|
rs140217688
|
0.00001
|
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=)
|
rs564630217
|
0.00001
|
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp)
|
rs772405187
|
0.00001
|
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)
|
rs771211103
|
0.00001
|
NM_172107.4(KCNQ2):c.1887+13G>A
|
rs1013321077
|
0.00001
|
NM_172107.4(KCNQ2):c.1888-18C>T
|
rs745600966
|
0.00001
|
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr)
|
rs777332271
|
0.00001
|
NM_172107.4(KCNQ2):c.1908G>A (p.Lys636=)
|
rs1319833450
|
0.00001
|
NM_172107.4(KCNQ2):c.1917C>T (p.Phe639=)
|
rs1568862506
|
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.1939C>T (p.Arg647Trp)
|
rs773450069
|
0.00001
|
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=)
|
rs749070370
|
0.00001
|
NM_172107.4(KCNQ2):c.1959A>G (p.Thr653=)
|
rs563758575
|
0.00001
|
NM_172107.4(KCNQ2):c.1966G>A (p.Glu656Lys)
|
rs545544936
|
0.00001
|
NM_172107.4(KCNQ2):c.1969G>A (p.Ala657Thr)
|
rs780679486
|
0.00001
|
NM_172107.4(KCNQ2):c.1977T>C (p.Phe659=)
|
rs530636866
|
0.00001
|
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu)
|
rs765493484
|
0.00001
|
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val)
|
rs563291132
|
0.00001
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
NM_172107.4(KCNQ2):c.2029C>T (p.Arg677Trp)
|
rs371851085
|
0.00001
|
NM_172107.4(KCNQ2):c.204C>A (p.Pro68=)
|
rs750320231
|
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.2089G>A (p.Gly697Ser)
|
rs1319597206
|
0.00001
|
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu)
|
rs1555850884
|
0.00001
|
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val)
|
rs779430808
|
0.00001
|
NM_172107.4(KCNQ2):c.2109G>A (p.Ala703=)
|
rs771679143
|
0.00001
|
NM_172107.4(KCNQ2):c.2114C>T (p.Pro705Leu)
|
rs779609892
|
0.00001
|
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=)
|
rs754279476
|
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.2120C>T (p.Ala707Val)
|
rs753033741
|
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.2179G>A (p.Gly727Ser)
|
rs368549458
|
0.00001
|
NM_172107.4(KCNQ2):c.2184C>T (p.His728=)
|
rs745409657
|
0.00001
|
NM_172107.4(KCNQ2):c.2188A>G (p.Thr730Ala)
|
rs1441250745
|
0.00001
|
NM_172107.4(KCNQ2):c.2194C>T (p.Pro732Ser)
|
rs749597397
|
0.00001
|
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)
|
rs755013341
|
0.00001
|
NM_172107.4(KCNQ2):c.2228C>T (p.Pro743Leu)
|
rs757187432
|
0.00001
|
NM_172107.4(KCNQ2):c.2229G>A (p.Pro743=)
|
rs1481212168
|
0.00001
|
NM_172107.4(KCNQ2):c.222C>T (p.Tyr74=)
|
rs796052613
|
0.00001
|
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=)
|
rs547655324
|
0.00001
|
NM_172107.4(KCNQ2):c.2240C>T (p.Ala747Val)
|
rs1244838198
|
0.00001
|
NM_172107.4(KCNQ2):c.225C>G (p.Arg75=)
|
rs2082234438
|
0.00001
|
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys)
|
rs1449467609
|
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.2298G>C (p.Leu766=)
|
rs370078678
|
0.00001
|
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser)
|
rs769045070
|
0.00001
|
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln)
|
rs752551225
|
0.00001
|
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
|
rs748400155
|
0.00001
|
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=)
|
rs903555499
|
0.00001
|
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)
|
rs1264858438
|
0.00001
|
NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp)
|
rs745990385
|
0.00001
|
NM_172107.4(KCNQ2):c.2345G>A (p.Arg782Gln)
|
rs756083804
|
0.00001
|
NM_172107.4(KCNQ2):c.2352C>T (p.Ser784=)
|
rs752646626
|
0.00001
|
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)
|
rs559610397
|
0.00001
|
NM_172107.4(KCNQ2):c.2376C>T (p.Ser792=)
|
rs765593192
|
0.00001
|
NM_172107.4(KCNQ2):c.240C>T (p.Phe80=)
|
rs961712229
|
0.00001
|
NM_172107.4(KCNQ2):c.2421C>T (p.Ile807=)
|
rs779048131
|
0.00001
|
NM_172107.4(KCNQ2):c.2445T>G (p.Asp815Glu)
|
rs371844101
|
0.00001
|
NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)
|
rs781323405
|
0.00001
|
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr)
|
rs751425807
|
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.246C>T (p.Tyr82=)
|
rs2082233877
|
0.00001
|
NM_172107.4(KCNQ2):c.249C>T (p.Asn83=)
|
rs1568986197
|
0.00001
|
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val)
|
rs754310883
|
0.00001
|
NM_172107.4(KCNQ2):c.2536T>C (p.Cys846Arg)
|
rs2079947062
|
0.00001
|
NM_172107.4(KCNQ2):c.2548G>A (p.Gly850Arg)
|
rs779986547
|
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.2565G>A (p.Ser855=)
|
rs951286775
|
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.297-19G>A
|
rs755735309
|
0.00001
|
NM_172107.4(KCNQ2):c.321C>T (p.Leu107=)
|
rs757187562
|
0.00001
|
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met)
|
rs749164961
|
0.00001
|
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=)
|
rs199860378
|
0.00001
|
NM_172107.4(KCNQ2):c.351G>T (p.Glu117Asp)
|
rs1215026765
|
0.00001
|
NM_172107.4(KCNQ2):c.385C>T (p.Leu129=)
|
rs1381622639
|
0.00001
|
NM_172107.4(KCNQ2):c.387+10G>A
|
rs371918220
|
0.00001
|
NM_172107.4(KCNQ2):c.387+13G>T
|
rs1340593322
|
0.00001
|
NM_172107.4(KCNQ2):c.387+9C>T
|
rs751969586
|
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.417G>A (p.Val139=)
|
rs769767997
|
0.00001
|
NM_172107.4(KCNQ2):c.444A>G (p.Ala148=)
|
rs1365973227
|
0.00001
|
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg)
|
rs754250122
|
0.00001
|
NM_172107.4(KCNQ2):c.514+19G>A
|
rs143112890
|
0.00001
|
NM_172107.4(KCNQ2):c.515-13G>A
|
rs752770712
|
0.00001
|
NM_172107.4(KCNQ2):c.515-15A>G
|
rs778229459
|
0.00001
|
NM_172107.4(KCNQ2):c.529A>G (p.Ile177Val)
|
rs542553752
|
0.00001
|
NM_172107.4(KCNQ2):c.588G>A (p.Ala196=)
|
rs771376349
|
0.00001
|
NM_172107.4(KCNQ2):c.58C>G (p.Leu20Val)
|
rs868492349
|
0.00001
|
NM_172107.4(KCNQ2):c.607C>T (p.Leu203=)
|
rs1057522309
|
0.00001
|
NM_172107.4(KCNQ2):c.642G>A (p.Arg214=)
|
rs778319589
|
0.00001
|
NM_172107.4(KCNQ2):c.651C>T (p.Thr217=)
|
rs1386799944
|
0.00001
|
NM_172107.4(KCNQ2):c.684C>T (p.His228=)
|
rs118192204
|
0.00001
|
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val)
|
rs747050726
|
0.00001
|
NM_172107.4(KCNQ2):c.729C>T (p.Leu243=)
|
rs755940771
|
0.00001
|
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter)
|
rs74315392
|
0.00001
|
NM_172107.4(KCNQ2):c.741G>A (p.Ser247=)
|
rs184792288
|
0.00001
|
NM_172107.4(KCNQ2):c.759A>T (p.Ala253=)
|
rs1169384661
|
0.00001
|
NM_172107.4(KCNQ2):c.77G>A (p.Gly26Glu)
|
rs1447528231
|
0.00001
|
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=)
|
rs772452810
|
0.00001
|
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu)
|
rs868642147
|
0.00001
|
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=)
|
rs775450377
|
0.00001
|
NM_172107.4(KCNQ2):c.816+11G>A
|
rs779253290
|
0.00001
|
NM_172107.4(KCNQ2):c.816+9T>C
|
rs772235691
|
0.00001
|
NM_172107.4(KCNQ2):c.817-11C>T
|
rs555632610
|
0.00001
|
NM_172107.4(KCNQ2):c.817-5C>T
|
rs774780027
|
0.00001
|
NM_172107.4(KCNQ2):c.819C>T (p.Ile273=)
|
rs771282785
|
0.00001
|
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=)
|
rs377485599
|
0.00001
|
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)
|
rs370760854
|
0.00001
|
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)
|
rs915805727
|
0.00001
|
NM_172107.4(KCNQ2):c.915C>T (p.Phe305=)
|
rs775918190
|
0.00001
|
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=)
|
rs539406802
|
0.00001
|
NM_172107.4(KCNQ2):c.928-16C>T
|
rs112907728
|
0.00001
|
NC_000020.10:g.(?_61952107)_62044936del
|
|
|
NC_000020.10:g.(?_62001629)_(62038624_?)del
|
|
|
NC_000020.10:g.(?_62027832)_(62045449_?)del
|
|
|
NC_000020.10:g.(?_62027833)_(62045450_?)del
|
|
|
NC_000020.10:g.(?_62030796)_(62038482_?)del
|
|
|
NC_000020.10:g.(?_62033334)_(62046267_?)del
|
|
|
NC_000020.10:g.(?_62037637)_(62038459_?)del
|
|
|
NC_000020.10:g.(?_62037977)_(62051045_?)del
|
|
|
NC_000020.10:g.(?_62037997)_(62039909_?)dup
|
|
|
NC_000020.10:g.(?_62037997)_(62046489_?)del
|
|
|
NC_000020.10:g.(?_62037997)_(62051045_?)del
|
|
|
NC_000020.10:g.(?_62037997)_(62059808_?)del
|
|
|
NC_000020.10:g.(?_62037997)_(62071081_?)del
|
|
|
NC_000020.10:g.(?_62038255)_(62077133_?)del
|
|
|
NC_000020.10:g.(?_62038508)_(62044760_?)del
|
|
|
NC_000020.10:g.(?_62044566)_(62046452_?)del
|
|
|
NC_000020.10:g.(?_62044783)_(62045566_?)del
|
|
|
NC_000020.10:g.(?_62044783)_(62065276_?)del
|
|
|
NC_000020.10:g.(?_62044783)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62044783)_(62103816_?)dup
|
|
|
NC_000020.10:g.(?_62044793)_(62044944_?)del
|
|
|
NC_000020.10:g.(?_62045421)_(62103816_?)del
|
|
|
NC_000020.10:g.(?_62046246)_(62055569_?)del
|
|
|
NC_000020.10:g.(?_62050952)_(62051045_?)del
|
|
|
NC_000020.10:g.(?_62050952)_(62059808_?)del
|
|
|
NC_000020.10:g.(?_62050952)_(62065276_?)del
|
|
|
NC_000020.10:g.(?_62050952)_(62070093_?)dup
|
|
|
NC_000020.10:g.(?_62050952)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62050962)_(62078200_?)dup
|
|
|
NC_000020.10:g.(?_62055510)_(62059808_?)dup
|
|
|
NC_000020.10:g.(?_62055510)_(62073904_?)dup
|
|
|
NC_000020.10:g.(?_62055510)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62059700)_(62071081_?)del
|
|
|
NC_000020.10:g.(?_62059700)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62059700)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_62062673)_(62065276_?)dup
|
|
|
NC_000020.10:g.(?_62062673)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62062673)_(62103816_?)del
|
|
|
NC_000020.10:g.(?_62062702)_(62068213_?)del
|
|
|
NC_000020.10:g.(?_62065142)_(62076737_?)del
|
|
|
NC_000020.10:g.(?_62065192)_(62071475_?)del
|
|
|
NC_000020.10:g.(?_62069958)_(62070093_?)del
|
|
|
NC_000020.10:g.(?_62069958)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_62069968)_(62078200_?)del
|
|
|
NC_000020.10:g.(?_62070931)_(62073904_?)dup
|
|
|
NC_000020.10:g.(?_62070931)_(62076207_?)del
|
|
|
NC_000020.10:g.(?_62070931)_(62076737_?)del
|
|
|
NC_000020.10:g.(?_62073739)_(62073904_?)del
|
|
|
NC_000020.10:g.(?_62073739)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62075992)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62076571)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62078080)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62081939)_62119720del
|
|
|
NC_000020.10:g.(?_62103501)_(62103816_?)dup
|
|
|
NC_000020.10:g.62046496_62046497insGACAAACA
|
|
|
NC_000020.11:g.(?_63406624)_(63407395_?)del
|
|
|
NC_000020.11:g.(?_63413450)_(63415126_?)del
|
|
|
NC_000020.11:g.(?_63419599)_(63439728_?)del
|
|
|
NC_000020.11:g.(?_63424157)_(63446857_?)dup
|
|
|
NC_000020.11:g.(?_63428347)_(63433923_?)del
|
|
|
NC_000020.11:g.(?_63431320)_(63433923_?)del
|
|
|
NC_000020.11:g.(?_63433725)_(63433923_?)del
|
|
|
NC_000020.11:g.(?_63438605)_(63446857_?)del
|
|
|
NM_172107.2(KCNQ2):c.1119-?_*382del
|
|
|
NM_172107.2(KCNQ2):c.1764-?_(*455_?)del
|
|
|
NM_172107.2(KCNQ2):c.297-?_1247+?del
|
|
|
NM_172107.2(KCNQ2):c.388-682_1118+?del
|
|
|
NM_172107.2(KCNQ2):c.388-?_1301+?del
|
|
|
NM_172107.2:c.(1228_1230)del12
|
|
|
NM_172107.2:c.1-?c.993+?del
|
|
|
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala)
|
rs1555869700
|
|
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser)
|
rs1555869700
|
|
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)
|
rs796052641
|
|
NM_172107.4(KCNQ2):c.1006_1009dup (p.Ala337fs)
|
rs2145712063
|
|
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly)
|
rs796052643
|
|
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro)
|
|
|
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1020C>T (p.Ile340=)
|
|
|
NM_172107.4(KCNQ2):c.1021C>T (p.Gln341Ter)
|
|
|
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)
|
rs2081071796
|
|
NM_172107.4(KCNQ2):c.1023+12T>C
|
|
|
NM_172107.4(KCNQ2):c.1023+15C>A
|
|
|
NM_172107.4(KCNQ2):c.1023+15C>T
|
|
|
NM_172107.4(KCNQ2):c.1023+16C>T
|
|
|
NM_172107.4(KCNQ2):c.1023+17C>G
|
rs1057522826
|
|
NM_172107.4(KCNQ2):c.1023+19C>G
|
|
|
NM_172107.4(KCNQ2):c.1023+2T>C
|
|
|
NM_172107.4(KCNQ2):c.1023+2dup
|
|
|
NM_172107.4(KCNQ2):c.1023+6T>C
|
|
|
NM_172107.4(KCNQ2):c.1023+7C>T
|
|
|
NM_172107.4(KCNQ2):c.1023G>C (p.Gln341His)
|
rs2081071680
|
|
NM_172107.4(KCNQ2):c.1024-10C>T
|
|
|
NM_172107.4(KCNQ2):c.1024-14C>T
|
rs562506366
|
|
NM_172107.4(KCNQ2):c.1024-15T>A
|
|
|
NM_172107.4(KCNQ2):c.1024-16_1024-12del
|
|
|
NM_172107.4(KCNQ2):c.1024-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1024-2A>C
|
rs1057516104
|
|
NM_172107.4(KCNQ2):c.1024-2A>G
|
rs1057516104
|
|
NM_172107.4(KCNQ2):c.1024-32_1024-19dup
|
|
|
NM_172107.4(KCNQ2):c.1024-6C>G
|
rs796052608
|
|
NM_172107.4(KCNQ2):c.1024-8C>T
|
|
|
NM_172107.4(KCNQ2):c.1024-9C>T
|
|
|
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu)
|
rs2080907267
|
|
NM_172107.4(KCNQ2):c.1027G>A (p.Ala343Thr)
|
|
|
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
|
|
|
NM_172107.4(KCNQ2):c.1029C>T (p.Ala343=)
|
|
|
NM_172107.4(KCNQ2):c.102del (p.Thr35fs)
|
rs1568986619
|
|
NM_172107.4(KCNQ2):c.1030T>A (p.Trp344Arg)
|
|
|
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
|
rs1057516105
|
|
NM_172107.4(KCNQ2):c.1034G>C (p.Arg345Thr)
|
|
|
NM_172107.4(KCNQ2):c.1034G>T (p.Arg345Ile)
|
|
|
NM_172107.4(KCNQ2):c.1040A>G (p.Tyr347Cys)
|
|
|
NM_172107.4(KCNQ2):c.1041C>G (p.Tyr347Ter)
|
rs770904422
|
|
NM_172107.4(KCNQ2):c.1042G>A (p.Ala348Thr)
|
rs2080906700
|
|
NM_172107.4(KCNQ2):c.1042_1043del (p.Ala348fs)
|
|
|
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val)
|
rs1568916986
|
|
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro)
|
rs2145680256
|
|
NM_172107.4(KCNQ2):c.1046C>A (p.Thr349Asn)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
|
|
|
NM_172107.4(KCNQ2):c.1048_1050del (p.Asn350del)
|
|
|
NM_172107.4(KCNQ2):c.1049A>G (p.Asn350Ser)
|
rs772800738
|
|
NM_172107.4(KCNQ2):c.1049dup (p.Asn350fs)
|
|
|
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys)
|
rs1371059392
|
|
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)
|
rs1057516106
|
|
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe)
|
rs1057516106
|
|
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg)
|
rs2145680143
|
|
NM_172107.4(KCNQ2):c.1053C>T (p.Leu351=)
|
rs1030017847
|
|
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro)
|
rs1057516108
|
|
NM_172107.4(KCNQ2):c.1054_1055del (p.Ser352fs)
|
|
|
NM_172107.4(KCNQ2):c.1055C>G (p.Ser352Trp)
|
|
|
NM_172107.4(KCNQ2):c.1056_1057delinsCG (p.Arg353Gly)
|
rs2145680059
|
|
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)
|
rs118192218
|
|
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.105C>G (p.Thr35=)
|
|
|
NM_172107.4(KCNQ2):c.105C>T (p.Thr35=)
|
rs2082237874
|
|
NM_172107.4(KCNQ2):c.1063G>T (p.Asp355Tyr)
|
rs2080905348
|
|
NM_172107.4(KCNQ2):c.1064A>G (p.Asp355Gly)
|
rs2080905274
|
|
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val)
|
rs2080905274
|
|
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)
|
rs200395340
|
|
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu)
|
rs200395340
|
|
NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val)
|
rs1057516109
|
|
NM_172107.4(KCNQ2):c.1067T>A (p.Leu356Gln)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1068G>A (p.Leu356=)
|
|
|
NM_172107.4(KCNQ2):c.106del (p.Arg36fs)
|
rs1600886270
|
|
NM_172107.4(KCNQ2):c.1070A>G (p.His357Arg)
|
rs926865634
|
|
NM_172107.4(KCNQ2):c.1072T>C (p.Ser358Pro)
|
rs2080904614
|
|
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)
|
rs1057516110
|
|
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala)
|
rs1064793334
|
|
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1078T>C (p.Trp360Arg)
|
rs2080904141
|
|
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter)
|
rs796052644
|
|
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)
|
rs1600732174
|
|
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys)
|
rs1600732174
|
|
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys)
|
rs1057516111
|
|
NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter)
|
rs747376305
|
|
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)
|
rs1185859533
|
|
NM_172107.4(KCNQ2):c.1089del (p.Tyr362_Tyr363insTer)
|
|
|
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
|
|
|
NM_172107.4(KCNQ2):c.1103C>G (p.Thr368Ser)
|
rs900170305
|
|
NM_172107.4(KCNQ2):c.1107G>A (p.Val369=)
|
|
|
NM_172107.4(KCNQ2):c.1108C>A (p.Pro370Thr)
|
rs2080902130
|
|
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg)
|
rs765394232
|
|
NM_172107.4(KCNQ2):c.1113G>A (p.Met371Ile)
|
|
|
NM_172107.4(KCNQ2):c.1113del (p.Met371fs)
|
rs2145679115
|
|
NM_172107.4(KCNQ2):c.1114T>C (p.Tyr372His)
|
rs2145679082
|
|
NM_172107.4(KCNQ2):c.1114dup (p.Tyr372fs)
|
rs2145679099
|
|
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs)
|
rs1600731888
|
|
NM_172107.4(KCNQ2):c.1118+11C>T
|
rs138176417
|
|
NM_172107.4(KCNQ2):c.1118+18C>T
|
rs2080900462
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
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+4C>T
|
rs2080901190
|
|
NM_172107.4(KCNQ2):c.1118+6G>A
|
|
|
NM_172107.4(KCNQ2):c.1118+9G>A
|
|
|
NM_172107.4(KCNQ2):c.1118G>T (p.Ser373Ile)
|
rs2145678974
|
|
NM_172107.4(KCNQ2):c.1119-14G>A
|
|
|
NM_172107.4(KCNQ2):c.1119-18T>A
|
|
|
NM_172107.4(KCNQ2):c.1119-20T>C
|
|
|
NM_172107.4(KCNQ2):c.1119-4A>G
|
rs749744963
|
|
NM_172107.4(KCNQ2):c.1119-8C>G
|
rs1057523550
|
|
NM_172107.4(KCNQ2):c.111C>T (p.Asp37=)
|
|
|
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter)
|
rs756360226
|
|
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)
|
rs1057516113
|
|
NM_172107.4(KCNQ2):c.1131A>C (p.Gln377His)
|
|
|
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser)
|
rs1260593444
|
|
NM_172107.4(KCNQ2):c.1136_1137delinsGA (p.Tyr379Ter)
|
|
|
NM_172107.4(KCNQ2):c.113G>C (p.Gly38Ala)
|
|
|
NM_172107.4(KCNQ2):c.1140_1141del (p.Ala381fs)
|
|
|
NM_172107.4(KCNQ2):c.1141del (p.Ala381fs)
|
|
|
NM_172107.4(KCNQ2):c.1143C>T (p.Ala381=)
|
|
|
NM_172107.4(KCNQ2):c.1148+10G>A
|
rs2145654994
|
|
NM_172107.4(KCNQ2):c.1148+12A>G
|
|
|
NM_172107.4(KCNQ2):c.1148+13T>C
|
|
|
NM_172107.4(KCNQ2):c.1148+16A>G
|
|
|
NM_172107.4(KCNQ2):c.1148+17C>T
|
|
|
NM_172107.4(KCNQ2):c.1148+2T>A
|
|
|
NM_172107.4(KCNQ2):c.1148+2T>G
|
rs118192221
|
|
NM_172107.4(KCNQ2):c.1148G>A (p.Arg383Lys)
|
|
|
NM_172107.4(KCNQ2):c.1149-13_1149-11del
|
|
|
NM_172107.4(KCNQ2):c.1149-16C>T
|
|
|
NM_172107.4(KCNQ2):c.1149-19_1149-18delinsAA
|
rs2145637769
|
|
NM_172107.4(KCNQ2):c.1149-1G>T
|
rs1600714727
|
|
NM_172107.4(KCNQ2):c.1149-20del
|
rs2145637812
|
|
NM_172107.4(KCNQ2):c.1149-2A>G
|
rs2080696874
|
|
NM_172107.4(KCNQ2):c.1149-3del
|
|
|
NM_172107.4(KCNQ2):c.1149-5C>T
|
rs2145637691
|
|
NM_172107.4(KCNQ2):c.1149-8T>C
|
rs1459803620
|
|
NM_172107.4(KCNQ2):c.1154del (p.Ile385fs)
|
rs2145637609
|
|
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs)
|
rs2145637592
|
|
NM_172107.4(KCNQ2):c.1160C>A (p.Pro387Gln)
|
|
|
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)
|
rs796052657
|
|
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs)
|
rs796052657
|
|
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)
|
rs2145637412
|
|
NM_172107.4(KCNQ2):c.117G>A (p.Ala39=)
|
|
|
NM_172107.4(KCNQ2):c.1181T>C (p.Leu394Pro)
|
rs2080695319
|
|
NM_172107.4(KCNQ2):c.1187A>G (p.Asn396Ser)
|
|
|
NM_172107.4(KCNQ2):c.1188C>T (p.Asn396=)
|
rs2080694966
|
|
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)
|
rs118192222
|
|
NM_172107.4(KCNQ2):c.1195A>G (p.Ser399Gly)
|
|
|
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer)
|
rs1057516114
|
|
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)
|
rs587780365
|
|
NM_172107.4(KCNQ2):c.1197dup (p.Lys400Ter)
|
|
|
NM_172107.4(KCNQ2):c.119T>C (p.Leu40Pro)
|
rs2082237607
|
|
NM_172107.4(KCNQ2):c.119_120del (p.Leu40fs)
|
rs2145921876
|
|
NM_172107.4(KCNQ2):c.1200A>G (p.Lys400=)
|
|
|
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter)
|
rs1064794001
|
|
NM_172107.4(KCNQ2):c.1207C>G (p.Leu403Val)
|
rs1166282198
|
|
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=)
|
rs752280961
|
|
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp)
|
rs1060500601
|
|
NM_172107.4(KCNQ2):c.1217+16C>G
|
rs2145636880
|
|
NM_172107.4(KCNQ2):c.1217+19G>C
|
|
|
NM_172107.4(KCNQ2):c.1217+1G>T
|
rs2080693649
|
|
NM_172107.4(KCNQ2):c.1217+2T>G
|
rs118192223
|
|
NM_172107.4(KCNQ2):c.1217+2_1217+3delinsAG
|
rs2145636962
|
|
NM_172107.4(KCNQ2):c.1218-12dup
|
rs761233540
|
|
NM_172107.4(KCNQ2):c.1218-14G>A
|
|
|
NM_172107.4(KCNQ2):c.1218-1G>A
|
rs1568899375
|
|
NM_172107.4(KCNQ2):c.1218-21_1218-18del
|
|
|
NM_172107.4(KCNQ2):c.1218-5T>G
|
|
|
NM_172107.4(KCNQ2):c.1218-5del
|
|
|
NM_172107.4(KCNQ2):c.1222G>C (p.Asp408His)
|
rs2080560881
|
|
NM_172107.4(KCNQ2):c.1224C>T (p.Asp408=)
|
rs1060503977
|
|
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)
|
rs1060499544
|
|
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1232C>A (p.Pro411Gln)
|
rs754682495
|
|
NM_172107.4(KCNQ2):c.1232C>G (p.Pro411Arg)
|
rs754682495
|
|
NM_172107.4(KCNQ2):c.1235A>C (p.Glu412Ala)
|
|
|
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg)
|
rs1270343938
|
|
NM_172107.4(KCNQ2):c.1239G>C (p.Pro413=)
|
|
|
NM_172107.4(KCNQ2):c.123G>C (p.Leu41=)
|
rs1600886191
|
|
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys)
|
rs1555859111
|
|
NM_172107.4(KCNQ2):c.1242T>G (p.Ser414=)
|
|
|
NM_172107.4(KCNQ2):c.1243C>T (p.Pro415Ser)
|
|
|
NM_172107.4(KCNQ2):c.1244C>A (p.Pro415Gln)
|
|
|
NM_172107.4(KCNQ2):c.1246A>G (p.Ser416Gly)
|
|
|
NM_172107.4(KCNQ2):c.1247+14G>C
|
|
|
NM_172107.4(KCNQ2):c.1247+14G>T
|
|
|
NM_172107.4(KCNQ2):c.1247+1G>A
|
rs1057516115
|
|
NM_172107.4(KCNQ2):c.1247+5G>A
|
|
|
NM_172107.4(KCNQ2):c.1247+6T>A
|
|
|
NM_172107.4(KCNQ2):c.1247+7G>A
|
|
|
NM_172107.4(KCNQ2):c.1248-10T>C
|
|
|
NM_172107.4(KCNQ2):c.1248-10T>G
|
rs1049810851
|
|
NM_172107.4(KCNQ2):c.1248-11_1248-9del
|
|
|
NM_172107.4(KCNQ2):c.1248-18_1248-17del
|
rs2080407380
|
|
NM_172107.4(KCNQ2):c.1248-19G>A
|
|
|
NM_172107.4(KCNQ2):c.1248-4C>T
|
rs772465626
|
|
NM_172107.4(KCNQ2):c.1248-8A>G
|
|
|
NM_172107.4(KCNQ2):c.1248T>C (p.Ser416=)
|
|
|
NM_172107.4(KCNQ2):c.1249A>C (p.Lys417Gln)
|
|
|
NM_172107.4(KCNQ2):c.1257C>T (p.Ser419=)
|
|
|
NM_172107.4(KCNQ2):c.1258C>T (p.Pro420Ser)
|
rs2080406431
|
|
NM_172107.4(KCNQ2):c.1259C>A (p.Pro420Gln)
|
rs139164500
|
|
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg)
|
rs139164500
|
|
NM_172107.4(KCNQ2):c.1265G>A (p.Arg422Lys)
|
|
|
NM_172107.4(KCNQ2):c.126C>A (p.Ile42=)
|
rs1555881817
|
|
NM_172107.4(KCNQ2):c.1273_1274del (p.Leu425fs)
|
|
|
NM_172107.4(KCNQ2):c.1275G>A (p.Leu425=)
|
|
|
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu)
|
rs1601590796
|
|
NM_172107.4(KCNQ2):c.1281A>C (p.Gly427=)
|
|
|
NM_172107.4(KCNQ2):c.1286G>A (p.Cys429Tyr)
|
rs1601590761
|
|
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe)
|
rs1601590761
|
|
NM_172107.4(KCNQ2):c.1287C>T (p.Cys429=)
|
rs1457499206
|
|
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)
|
rs118192224
|
|
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val)
|
rs749554385
|
|
NM_172107.4(KCNQ2):c.1290C>A (p.Pro430=)
|
|
|
NM_172107.4(KCNQ2):c.1290C>G (p.Pro430=)
|
|
|
NM_172107.4(KCNQ2):c.129C>A (p.Ala43=)
|
rs1317748215
|
|
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn)
|
rs776223064
|
|
NM_172107.4(KCNQ2):c.1300A>C (p.Ser434Arg)
|
|
|
NM_172107.4(KCNQ2):c.1301+12C>A
|
|
|
NM_172107.4(KCNQ2):c.1301+14C>T
|
|
|
NM_172107.4(KCNQ2):c.1301+17C>A
|
|
|
NM_172107.4(KCNQ2):c.1301+17C>T
|
rs371259819
|
|
NM_172107.4(KCNQ2):c.1301+18G>A
|
|
|
NM_172107.4(KCNQ2):c.1301+2T>G
|
|
|
NM_172107.4(KCNQ2):c.1301+3A>G
|
|
|
NM_172107.4(KCNQ2):c.1301+6G>T
|
rs377304987
|
|
NM_172107.4(KCNQ2):c.1301+7C>A
|
|
|
NM_172107.4(KCNQ2):c.1301+8G>A
|
rs532111320
|
|
NM_172107.4(KCNQ2):c.1301+8G>C
|
rs532111320
|
|
NM_172107.4(KCNQ2):c.1301+8G>T
|
rs532111320
|
|
NM_172107.4(KCNQ2):c.1302-11C>G
|
rs371007020
|
|
NM_172107.4(KCNQ2):c.1302-11C>T
|
rs371007020
|
|
NM_172107.4(KCNQ2):c.1302-12C>T
|
|
|
NM_172107.4(KCNQ2):c.1302-13C>A
|
|
|
NM_172107.4(KCNQ2):c.1302-15_1302-14insGTCTGTCA
|
rs2080248150
|
|
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
|
|
|
NM_172107.4(KCNQ2):c.1302-17G>T
|
rs79184652
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC
|
rs1555854853
|
|
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTG
|
|
|
NM_172107.4(KCNQ2):c.1302-19_1302-18insTGTCTGTT
|
rs765336709
|
|
NM_172107.4(KCNQ2):c.1302-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>C
|
rs118192225
|
|
NM_172107.4(KCNQ2):c.1302-1G>T
|
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[2]
|
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[4]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[5]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1302-29TGTC[6]
|
rs112006486
|
|
NM_172107.4(KCNQ2):c.1302-6G>C
|
|
|
NM_172107.4(KCNQ2):c.1308G>A (p.Lys436=)
|
rs1008990254
|
|
NM_172107.4(KCNQ2):c.1309G>A (p.Val437Ile)
|
|
|
NM_172107.4(KCNQ2):c.130G>A (p.Gly44Ser)
|
|
|
NM_172107.4(KCNQ2):c.1311_1312insT (p.Ser438Ter)
|
|
|
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
|
|
|
NM_172107.4(KCNQ2):c.1322A>G (p.Asp441Gly)
|
|
|
NM_172107.4(KCNQ2):c.1325G>A (p.Arg442His)
|
|
|
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
|
|
|
NM_172107.4(KCNQ2):c.132C>T (p.Gly44=)
|
|
|
NM_172107.4(KCNQ2):c.1333T>C (p.Ser445Pro)
|
rs2080246296
|
|
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=)
|
rs1316650494
|
|
NM_172107.4(KCNQ2):c.1339C>G (p.Pro447Ala)
|
|
|
NM_172107.4(KCNQ2):c.1342C>A (p.Arg448=)
|
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.1342del (p.Arg448fs)
|
rs2145557228
|
|
NM_172107.4(KCNQ2):c.1343G>A (p.Arg448Gln)
|
rs763968845
|
|
NM_172107.4(KCNQ2):c.1354G>A (p.Ala452Thr)
|
rs2080245324
|
|
NM_172107.4(KCNQ2):c.1356dup (p.Lys453fs)
|
rs2080245264
|
|
NM_172107.4(KCNQ2):c.135C>A (p.Ser45=)
|
|
|
NM_172107.4(KCNQ2):c.135del (p.Glu46fs)
|
|
|
NM_172107.4(KCNQ2):c.1364A>G (p.Lys455Arg)
|
|
|
NM_172107.4(KCNQ2):c.1365G>A (p.Lys455=)
|
rs267606052
|
|
NM_172107.4(KCNQ2):c.1367G>A (p.Gly456Glu)
|
|
|
NM_172107.4(KCNQ2):c.136G>A (p.Glu46Lys)
|
|
|
NM_172107.4(KCNQ2):c.136G>C (p.Glu46Gln)
|
|
|
NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter)
|
rs2145556764
|
|
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr)
|
rs1284566908
|
|
NM_172107.4(KCNQ2):c.1378G>C (p.Ala460Pro)
|
|
|
NM_172107.4(KCNQ2):c.1381C>T (p.Gln461Ter)
|
rs267606051
|
|
NM_172107.4(KCNQ2):c.1383G>T (p.Gln461His)
|
rs1349137821
|
|
NM_172107.4(KCNQ2):c.1388_1389del (p.Val463fs)
|
rs878855236
|
|
NM_172107.4(KCNQ2):c.1393C>T (p.Arg465Trp)
|
|
|
NM_172107.4(KCNQ2):c.1403dup (p.Ser468fs)
|
|
|
NM_172107.4(KCNQ2):c.1404C>T (p.Ser468=)
|
|
|
NM_172107.4(KCNQ2):c.1408G>C (p.Asp470His)
|
rs751907059
|
|
NM_172107.4(KCNQ2):c.1409A>G (p.Asp470Gly)
|
|
|
NM_172107.4(KCNQ2):c.1410C>G (p.Asp470Glu)
|
|
|
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
|
|
|
NM_172107.4(KCNQ2):c.1414A>G (p.Ser472Gly)
|
|
|
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs)
|
rs1057516117
|
|
NM_172107.4(KCNQ2):c.1420G>A (p.Glu474Lys)
|
|
|
NM_172107.4(KCNQ2):c.1420G>T (p.Glu474Ter)
|
rs368130496
|
|
NM_172107.4(KCNQ2):c.1423G>T (p.Asp475Tyr)
|
|
|
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs)
|
rs1601573302
|
|
NM_172107.4(KCNQ2):c.1425C>A (p.Asp475Glu)
|
|
|
NM_172107.4(KCNQ2):c.1437G>A (p.Lys479=)
|
rs2080240279
|
|
NM_172107.4(KCNQ2):c.1444A>T (p.Lys482Ter)
|
rs2080240053
|
|
NM_172107.4(KCNQ2):c.1445A>G (p.Lys482Arg)
|
|
|
NM_172107.4(KCNQ2):c.1446G>A (p.Lys482=)
|
|
|
NM_172107.4(KCNQ2):c.1448G>T (p.Ser483Ile)
|
|
|
NM_172107.4(KCNQ2):c.144C>T (p.Pro48=)
|
rs1600886044
|
|
NM_172107.4(KCNQ2):c.144del (p.Lys49fs)
|
rs1555881809
|
|
NM_172107.4(KCNQ2):c.144dup (p.Lys49fs)
|
rs1555881809
|
|
NM_172107.4(KCNQ2):c.1452G>A (p.Trp484Ter)
|
rs2080239750
|
|
NM_172107.4(KCNQ2):c.1452dup (p.Ser485fs)
|
rs2080239833
|
|
NM_172107.4(KCNQ2):c.1459G>C (p.Gly487Arg)
|
|
|
NM_172107.4(KCNQ2):c.1465C>G (p.Arg489Gly)
|
rs775387876
|
|
NM_172107.4(KCNQ2):c.1466G>A (p.Arg489His)
|
|
|
NM_172107.4(KCNQ2):c.1467C>T (p.Arg489=)
|
rs767486470
|
|
NM_172107.4(KCNQ2):c.1470C>T (p.Ser490=)
|
|
|
NM_172107.4(KCNQ2):c.1471C>T (p.Arg491Trp)
|
rs1251584590
|
|
NM_172107.4(KCNQ2):c.1474G>A (p.Ala492Thr)
|
|
|
NM_172107.4(KCNQ2):c.1480C>T (p.Gln494Ter)
|
rs2145555670
|
|
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His)
|
rs769414365
|
|
NM_172107.4(KCNQ2):c.1490G>T (p.Arg497Leu)
|
|
|
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val)
|
rs1601572937
|
|
NM_172107.4(KCNQ2):c.1494C>A (p.Ile498=)
|
rs2145555496
|
|
NM_172107.4(KCNQ2):c.1498G>A (p.Gly500Ser)
|
rs2080237946
|
|
NM_172107.4(KCNQ2):c.1499G>A (p.Gly500Asp)
|
|
|
NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro)
|
rs1057516118
|
|
NM_172107.4(KCNQ2):c.1502_1503delinsTG (p.Ala501Val)
|
rs2080237716
|
|
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.1504G>T (p.Ala502Ser)
|
rs540103798
|
|
NM_172107.4(KCNQ2):c.151G>A (p.Gly51Ser)
|
|
|
NM_172107.4(KCNQ2):c.151G>C (p.Gly51Arg)
|
|
|
NM_172107.4(KCNQ2):c.1520C>A (p.Ser507Ter)
|
|
|
NM_172107.4(KCNQ2):c.1525+13G>A
|
|
|
NM_172107.4(KCNQ2):c.1525+14C>T
|
|
|
NM_172107.4(KCNQ2):c.1525+1G>A
|
rs118192228
|
|
NM_172107.4(KCNQ2):c.1525+2T>C
|
|
|
NM_172107.4(KCNQ2):c.1525+4G>A
|
|
|
NM_172107.4(KCNQ2):c.1525+5G>C
|
|
|
NM_172107.4(KCNQ2):c.1525+7del
|
rs2080236526
|
|
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
|
|
|
NM_172107.4(KCNQ2):c.1526-12C>T
|
|
|
NM_172107.4(KCNQ2):c.1526-13T>C
|
|
|
NM_172107.4(KCNQ2):c.1526-16G>A
|
|
|
NM_172107.4(KCNQ2):c.1526-18C>A
|
|
|
NM_172107.4(KCNQ2):c.1526-18C>T
|
|
|
NM_172107.4(KCNQ2):c.1526-3C>A
|
rs568408012
|
|
NM_172107.4(KCNQ2):c.1526-3del
|
rs974502886
|
|
NM_172107.4(KCNQ2):c.1526-4C>A
|
rs1396502704
|
|
NM_172107.4(KCNQ2):c.1526-6C>A
|
rs763503121
|
|
NM_172107.4(KCNQ2):c.1526-7C>A
|
rs761567082
|
|
NM_172107.4(KCNQ2):c.1526-8dup
|
rs974502886
|
|
NM_172107.4(KCNQ2):c.1528del (p.Ala510fs)
|
rs2080213813
|
|
NM_172107.4(KCNQ2):c.1531del (p.Ser511fs)
|
|
|
NM_172107.4(KCNQ2):c.1532dup (p.Ser511fs)
|
|
|
NM_172107.4(KCNQ2):c.1534C>T (p.Leu512Phe)
|
|
|
NM_172107.4(KCNQ2):c.1534del (p.Leu512fs)
|
|
|
NM_172107.4(KCNQ2):c.1536C>A (p.Leu512=)
|
rs1244500696
|
|
NM_172107.4(KCNQ2):c.1540G>T (p.Gly514Ter)
|
rs772669887
|
|
NM_172107.4(KCNQ2):c.1542A>G (p.Gly514=)
|
|
|
NM_172107.4(KCNQ2):c.1542A>T (p.Gly514=)
|
|
|
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)
|
rs117067974
|
|
NM_172107.4(KCNQ2):c.1547del (p.Asp516fs)
|
|
|
NM_172107.4(KCNQ2):c.1549A>G (p.Ile517Val)
|
|
|
NM_172107.4(KCNQ2):c.1549_1550insAGATGTC (p.Ile517fs)
|
|
|
NM_172107.4(KCNQ2):c.1558_1561dup (p.Lys521fs)
|
rs2145548219
|
|
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
|
|
|
NM_172107.4(KCNQ2):c.1565G>A (p.Ser522Asn)
|
|
|
NM_172107.4(KCNQ2):c.1566C>G (p.Ser522Arg)
|
rs2145548165
|
|
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs)
|
rs1555854036
|
|
NM_172107.4(KCNQ2):c.1570C>T (p.Pro524Ser)
|
|
|
NM_172107.4(KCNQ2):c.1575C>G (p.Cys525Trp)
|
|
|
NM_172107.4(KCNQ2):c.1575C>T (p.Cys525=)
|
|
|
NM_172107.4(KCNQ2):c.1578G>A (p.Glu526=)
|
|
|
NM_172107.4(KCNQ2):c.1579T>A (p.Phe527Ile)
|
|
|
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val)
|
rs1555854018
|
|
NM_172107.4(KCNQ2):c.1593C>T (p.Asp531=)
|
rs1601569482
|
|
NM_172107.4(KCNQ2):c.1598C>A (p.Thr533Asn)
|
|
|
NM_172107.4(KCNQ2):c.1600C>T (p.Pro534Ser)
|
|
|
NM_172107.4(KCNQ2):c.1601del (p.Pro534fs)
|
|
|
NM_172107.4(KCNQ2):c.1606C>T (p.Leu536Phe)
|
|
|
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter)
|
rs1555853983
|
|
NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del)
|
rs1555853977
|
|
NM_172107.4(KCNQ2):c.1611A>T (p.Lys537Asn)
|
|
|
NM_172107.4(KCNQ2):c.1616G>A (p.Ser539Asn)
|
|
|
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val)
|
rs2145547478
|
|
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser)
|
rs2080210194
|
|
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly)
|
rs1555853971
|
|
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)
|
rs1555853970
|
|
NM_172107.4(KCNQ2):c.1623_1631+5del
|
rs2145547209
|
|
NM_172107.4(KCNQ2):c.1624G>A (p.Ala542Thr)
|
|
|
NM_172107.4(KCNQ2):c.1625C>A (p.Ala542Asp)
|
|
|
NM_172107.4(KCNQ2):c.1626C>G (p.Ala542=)
|
rs564614151
|
|
NM_172107.4(KCNQ2):c.162C>T (p.Leu54=)
|
rs2145921651
|
|
NM_172107.4(KCNQ2):c.162_167dup (p.Ser55_Lys56insAsnSer)
|
|
|
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)
|
rs118192232
|
|
NM_172107.4(KCNQ2):c.1631+12G>A
|
|
|
NM_172107.4(KCNQ2):c.1631+13C>A
|
|
|
NM_172107.4(KCNQ2):c.1631+1G>A
|
rs1057516121
|
|
NM_172107.4(KCNQ2):c.1631+20G>A
|
|
|
NM_172107.4(KCNQ2):c.1631+2T>C
|
rs2145547234
|
|
NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr)
|
rs1057518492
|
|
NM_172107.4(KCNQ2):c.1631G>C (p.Cys544Ser)
|
rs1057518492
|
|
NM_172107.4(KCNQ2):c.1632-10C>T
|
|
|
NM_172107.4(KCNQ2):c.1632-12A>C
|
|
|
NM_172107.4(KCNQ2):c.1632-12dup
|
rs745393879
|
|
NM_172107.4(KCNQ2):c.1632-13C>T
|
|
|
NM_172107.4(KCNQ2):c.1632-15C>A
|
|
|
NM_172107.4(KCNQ2):c.1632-1G>A
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1632-3C>A
|
rs765708117
|
|
NM_172107.4(KCNQ2):c.1632-4G>A
|
rs750925697
|
|
NM_172107.4(KCNQ2):c.1632-5T>A
|
|
|
NM_172107.4(KCNQ2):c.1632-5T>G
|
|
|
NM_172107.4(KCNQ2):c.1632-6C>A
|
|
|
NM_172107.4(KCNQ2):c.1632-6C>G
|
rs570940951
|
|
NM_172107.4(KCNQ2):c.1632-6del
|
|
|
NM_172107.4(KCNQ2):c.1632-7C>G
|
|
|
NM_172107.4(KCNQ2):c.1632-9C>T
|
|
|
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.1638G>A (p.Met546Ile)
|
rs2080191127
|
|
NM_172107.4(KCNQ2):c.1639C>A (p.Arg547=)
|
|
|
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
|
|
|
NM_172107.4(KCNQ2):c.1646T>C (p.Leu549Pro)
|
|
|
NM_172107.4(KCNQ2):c.1648G>C (p.Val550Leu)
|
rs1375676594
|
|
NM_172107.4(KCNQ2):c.1651T>C (p.Ser551Pro)
|
rs2080190604
|
|
NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr)
|
rs1555853613
|
|
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg)
|
rs1555853613
|
|
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
|
|
|
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>C (p.Arg553Pro)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1662G>A (p.Lys554=)
|
|
|
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)
|
rs267607198
|
|
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile)
|
rs2145542277
|
|
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
|
|
|
NM_172107.4(KCNQ2):c.1665C>G (p.Phe555Leu)
|
|
|
NM_172107.4(KCNQ2):c.1665C>T (p.Phe555=)
|
rs372800424
|
|
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
|
|
|
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu)
|
rs1555853593
|
|
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
|
|
|
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn)
|
rs1601566660
|
|
NM_172107.4(KCNQ2):c.1674C>T (p.Ser558=)
|
rs2145542186
|
|
NM_172107.4(KCNQ2):c.1676T>C (p.Leu559Pro)
|
|
|
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.1679G>C (p.Arg560Pro)
|
rs1057517919
|
|
NM_172107.4(KCNQ2):c.1679G>T (p.Arg560Leu)
|
|
|
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)
|
rs118192231
|
|
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs)
|
rs1601566621
|
|
NM_172107.4(KCNQ2):c.1682C>G (p.Pro561Arg)
|
rs796052652
|
|
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)
|
rs796052652
|
|
NM_172107.4(KCNQ2):c.1684T>A (p.Tyr562Asn)
|
|
|
NM_172107.4(KCNQ2):c.1686C>G (p.Tyr562Ter)
|
rs1057520773
|
|
NM_172107.4(KCNQ2):c.1686C>T (p.Tyr562=)
|
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1688A>G (p.Asp563Gly)
|
rs2080189052
|
|
NM_172107.4(KCNQ2):c.1689C>A (p.Asp563Glu)
|
|
|
NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu)
|
rs35450031
|
|
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
|
|
|
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
|
|
|
NM_172107.4(KCNQ2):c.1696G>A (p.Asp566Asn)
|
|
|
NM_172107.4(KCNQ2):c.1698_1706del (p.Asp566_Ile568del)
|
|
|
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile)
|
rs748571840
|
|
NM_172107.4(KCNQ2):c.16C>G (p.Arg6Gly)
|
|
|
NM_172107.4(KCNQ2):c.1705G>A (p.Glu569Lys)
|
|
|
NM_172107.4(KCNQ2):c.1708C>T (p.Gln570Ter)
|
rs2080188103
|
|
NM_172107.4(KCNQ2):c.171_172delinsAA (p.Arg58Ser)
|
rs2145921606
|
|
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)
|
rs2080187424
|
|
NM_172107.4(KCNQ2):c.1720_1726dup (p.Leu576fs)
|
|
|
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)
|
rs796052654
|
|
NM_172107.4(KCNQ2):c.1725C>T (p.His575=)
|
rs2080187230
|
|
NM_172107.4(KCNQ2):c.1727_1731dup (p.Met578fs)
|
|
|
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)
|
rs1601566366
|
|
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1734G>A (p.Met578Ile)
|
rs796052655
|
|
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.1735C>G (p.Leu579Val)
|
|
|
NM_172107.4(KCNQ2):c.1735C>T (p.Leu579=)
|
|
|
NM_172107.4(KCNQ2):c.173GCGCGGGCG[1] (p.Gly61_Gly63del)
|
|
|
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup)
|
rs1362316126
|
|
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.1749G>C (p.Lys583Asn)
|
rs2145541173
|
|
NM_172107.4(KCNQ2):c.174C>T (p.Arg58=)
|
|
|
NM_172107.4(KCNQ2):c.1753C>T (p.Leu585=)
|
|
|
NM_172107.4(KCNQ2):c.1754T>C (p.Leu585Pro)
|
rs2080185796
|
|
NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)
|
|
|
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)
|
rs796052656
|
|
NM_172107.4(KCNQ2):c.1761C>T (p.Ser587=)
|
|
|
NM_172107.4(KCNQ2):c.1763+11C>T
|
|
|
NM_172107.4(KCNQ2):c.1763+12G>A
|
|
|
NM_172107.4(KCNQ2):c.1763+12G>T
|
|
|
NM_172107.4(KCNQ2):c.1763+14C>G
|
rs767673819
|
|
NM_172107.4(KCNQ2):c.1763+1576T>G
|
rs62208003
|
|
NM_172107.4(KCNQ2):c.1763+16G>T
|
|
|
NM_172107.4(KCNQ2):c.1763+17C>A
|
rs548507063
|
|
NM_172107.4(KCNQ2):c.1763+2C>G
|
|
|
NM_172107.4(KCNQ2):c.1763+3A>G
|
rs1601566237
|
|
NM_172107.4(KCNQ2):c.1763+4A>G
|
rs2145541064
|
|
NM_172107.4(KCNQ2):c.1763+5G>C
|
|
|
NM_172107.4(KCNQ2):c.1764-11G>C
|
|
|
NM_172107.4(KCNQ2):c.1764-18G>A
|
rs2145497913
|
|
NM_172107.4(KCNQ2):c.1764-18G>T
|
|
|
NM_172107.4(KCNQ2):c.1764-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1764-20G>A
|
|
|
NM_172107.4(KCNQ2):c.1764-2A>G
|
rs118192238
|
|
NM_172107.4(KCNQ2):c.1764-5G>A
|
|
|
NM_172107.4(KCNQ2):c.1764-6C>A
|
rs118192239
|
|
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser)
|
rs118192237
|
|
NM_172107.4(KCNQ2):c.176C>T (p.Ala59Val)
|
|
|
NM_172107.4(KCNQ2):c.1771C>T (p.Gln591Ter)
|
|
|
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met)
|
rs201868078
|
|
NM_172107.4(KCNQ2):c.1782G>A (p.Gly594=)
|
|
|
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)
|
rs1555851550
|
|
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala)
|
rs2145497630
|
|
NM_172107.4(KCNQ2):c.1789C>G (p.Pro597Ala)
|
|
|
NM_172107.4(KCNQ2):c.1794G>A (p.Ala598=)
|
rs779158152
|
|
NM_172107.4(KCNQ2):c.1794G>T (p.Ala598=)
|
rs779158152
|
|
NM_172107.4(KCNQ2):c.179G>A (p.Gly60Asp)
|
|
|
NM_172107.4(KCNQ2):c.1800G>C (p.Thr600=)
|
rs587780368
|
|
NM_172107.4(KCNQ2):c.1806G>A (p.Lys602=)
|
rs2145497393
|
|
NM_172107.4(KCNQ2):c.1812C>T (p.Arg604=)
|
rs2145497312
|
|
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile)
|
rs751334184
|
|
NM_172107.4(KCNQ2):c.1815C>G (p.Thr605=)
|
|
|
NM_172107.4(KCNQ2):c.1819G>T (p.Gly607Cys)
|
|
|
NM_172107.4(KCNQ2):c.1821C>T (p.Gly607=)
|
|
|
NM_172107.4(KCNQ2):c.1823C>A (p.Pro608Gln)
|
rs140217688
|
|
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
|
|
|
NM_172107.4(KCNQ2):c.1827C>G (p.Ala609=)
|
|
|
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1828G>C (p.Glu610Gln)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1830G>C (p.Glu610Asp)
|
rs2145497049
|
|
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys)
|
rs1180808546
|
|
NM_172107.4(KCNQ2):c.1843G>A (p.Glu615Lys)
|
rs1489723565
|
|
NM_172107.4(KCNQ2):c.1849C>T (p.Pro617Ser)
|
|
|
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs)
|
rs1555851445
|
|
NM_172107.4(KCNQ2):c.1862G>T (p.Gly621Val)
|
rs2145496805
|
|
NM_172107.4(KCNQ2):c.1865G>C (p.Arg622Pro)
|
|
|
NM_172107.4(KCNQ2):c.1866G>A (p.Arg622=)
|
|
|
NM_172107.4(KCNQ2):c.1866G>C (p.Arg622=)
|
rs1060503976
|
|
NM_172107.4(KCNQ2):c.1868T>C (p.Leu623Pro)
|
rs2145496730
|
|
NM_172107.4(KCNQ2):c.1869C>A (p.Leu623=)
|
|
|
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=)
|
rs774516728
|
|
NM_172107.4(KCNQ2):c.186G>A (p.Ala62=)
|
|
|
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg)
|
rs771211103
|
|
NM_172107.4(KCNQ2):c.1870G>T (p.Gly624Trp)
|
rs771211103
|
|
NM_172107.4(KCNQ2):c.1872del (p.Lys625fs)
|
rs1568864658
|
|
NM_172107.4(KCNQ2):c.1873A>T (p.Lys625Ter)
|
|
|
NM_172107.4(KCNQ2):c.1887+10G>A
|
rs1422499897
|
|
NM_172107.4(KCNQ2):c.1887+10G>T
|
rs1422499897
|
|
NM_172107.4(KCNQ2):c.1887+15G>A
|
rs769833989
|
|
NM_172107.4(KCNQ2):c.1887+16C>A
|
rs369329706
|
|
NM_172107.4(KCNQ2):c.1887+16C>T
|
rs369329706
|
|
NM_172107.4(KCNQ2):c.1887+18G>A
|
rs750270667
|
|
NM_172107.4(KCNQ2):c.1887+1G>T
|
rs796052670
|
|
NM_172107.4(KCNQ2):c.1887+2del
|
|
|
NM_172107.4(KCNQ2):c.1887+9G>A
|
rs1292936188
|
|
NM_172107.4(KCNQ2):c.1887G>A (p.Gln629=)
|
rs2145496561
|
|
NM_172107.4(KCNQ2):c.1888-16G>A
|
|
|
NM_172107.4(KCNQ2):c.1888-1G>A
|
rs2079980924
|
|
NM_172107.4(KCNQ2):c.1896C>T (p.Ser632=)
|
|
|
NM_172107.4(KCNQ2):c.18C>T (p.Arg6=)
|
|
|
NM_172107.4(KCNQ2):c.1902G>A (p.Glu634=)
|
|
|
NM_172107.4(KCNQ2):c.1903AAG[1] (p.Lys636del)
|
rs2079980257
|
|
NM_172107.4(KCNQ2):c.1909C>T (p.Leu637=)
|
rs1057521568
|
|
NM_172107.4(KCNQ2):c.1910T>C (p.Leu637Pro)
|
|
|
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg)
|
rs118192240
|
|
NM_172107.4(KCNQ2):c.1918del (p.Leu640fs)
|
|
|
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro)
|
rs1568862485
|
|
NM_172107.4(KCNQ2):c.1923G>A (p.Val641=)
|
rs2145489065
|
|
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
|
rs1021032210
|
|
NM_172107.4(KCNQ2):c.192C>T (p.Ala64=)
|
|
|
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)
|
rs118192241
|
|
NM_172107.4(KCNQ2):c.1933A>G (p.Met645Val)
|
|
|
NM_172107.4(KCNQ2):c.1934T>C (p.Met645Thr)
|
|
|
NM_172107.4(KCNQ2):c.1935dup (p.Gln646fs)
|
|
|
NM_172107.4(KCNQ2):c.1946G>A (p.Gly649Asp)
|
rs200124638
|
|
NM_172107.4(KCNQ2):c.1950C>T (p.Ile650=)
|
rs772067813
|
|
NM_172107.4(KCNQ2):c.1951C>T (p.Pro651Ser)
|
|
|
NM_172107.4(KCNQ2):c.1952C>G (p.Pro651Arg)
|
|
|
NM_172107.4(KCNQ2):c.1953C>A (p.Pro651=)
|
rs2145488702
|
|
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.1955dup (p.Thr653fs)
|
|
|
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs)
|
rs118192242
|
|
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs)
|
rs1601545088
|
|
NM_172107.4(KCNQ2):c.1957A>C (p.Thr653Pro)
|
|
|
NM_172107.4(KCNQ2):c.1958C>G (p.Thr653Arg)
|
|
|
NM_172107.4(KCNQ2):c.195G>A (p.Gly65=)
|
|
|
NM_172107.4(KCNQ2):c.195G>C (p.Gly65=)
|
|
|
NM_172107.4(KCNQ2):c.195G>T (p.Gly65=)
|
rs2082235561
|
|
NM_172107.4(KCNQ2):c.195_196del (p.Lys66fs)
|
rs2145921462
|
|
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
|
|
|
NM_172107.4(KCNQ2):c.1961A>T (p.Glu654Val)
|
|
|
NM_172107.4(KCNQ2):c.1962G>C (p.Glu654Asp)
|
|
|
NM_172107.4(KCNQ2):c.1963A>G (p.Thr655Ala)
|
|
|
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
|
|
|
NM_172107.4(KCNQ2):c.1966del (p.Glu656fs)
|
rs2145488506
|
|
NM_172107.4(KCNQ2):c.1968G>C (p.Glu656Asp)
|
rs1245262343
|
|
NM_172107.4(KCNQ2):c.196A>T (p.Lys66Ter)
|
|
|
NM_172107.4(KCNQ2):c.1978G>A (p.Gly660Arg)
|
|
|
NM_172107.4(KCNQ2):c.197del (p.Lys66fs)
|
rs2082235501
|
|
NM_172107.4(KCNQ2):c.1981G>A (p.Ala661Thr)
|
|
|
NM_172107.4(KCNQ2):c.1983C>T (p.Ala661=)
|
|
|
NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly)
|
rs758747437
|
|
NM_172107.4(KCNQ2):c.1997C>A (p.Pro666Gln)
|
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_172107.4(KCNQ2):c.1998G>T (p.Pro666=)
|
rs777059029
|
|
NM_172107.4(KCNQ2):c.1999_2377del (p.Ala667fs)
|
|
|
NM_172107.4(KCNQ2):c.199C>G (p.Pro67Ala)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)
|
rs118192185
|
|
NM_172107.4(KCNQ2):c.1A>T (p.Met1Leu)
|
|
|
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)
|
rs774306858
|
|
NM_172107.4(KCNQ2):c.2007dup (p.Tyr670fs)
|
|
|
NM_172107.4(KCNQ2):c.2010C>T (p.Tyr670=)
|
|
|
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs)
|
rs118192243
|
|
NM_172107.4(KCNQ2):c.201C>T (p.Pro67=)
|
|
|
NM_172107.4(KCNQ2):c.2020G>C (p.Glu674Gln)
|
|
|
NM_172107.4(KCNQ2):c.2023G>A (p.Asp675Asn)
|
|
|
NM_172107.4(KCNQ2):c.2025C>T (p.Asp675=)
|
|
|
NM_172107.4(KCNQ2):c.2029C>A (p.Arg677=)
|
|
|
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro)
|
rs1326189284
|
|
NM_172107.4(KCNQ2):c.2032G>A (p.Glu678Lys)
|
rs2079974270
|
|
NM_172107.4(KCNQ2):c.2032del (p.Glu678fs)
|
rs2145487908
|
|
NM_172107.4(KCNQ2):c.2036A>G (p.His679Arg)
|
|
|
NM_172107.4(KCNQ2):c.2036_2052del (p.His679fs)
|
|
|
NM_172107.4(KCNQ2):c.2037T>C (p.His679=)
|
rs1162099839
|
|
NM_172107.4(KCNQ2):c.2037T>G (p.His679Gln)
|
|
|
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn)
|
rs1380546879
|
|
NM_172107.4(KCNQ2):c.2045_2046insT (p.Arg682fs)
|
|
|
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
|
|
|
NM_172107.4(KCNQ2):c.204C>G (p.Pro68=)
|
rs750320231
|
|
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.2057T>C (p.Ile686Thr)
|
|
|
NM_172107.4(KCNQ2):c.2061C>T (p.Val687=)
|
rs543412828
|
|
NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=)
|
rs1266457198
|
|
NM_172107.4(KCNQ2):c.2067C>A (p.Ile689=)
|
|
|
NM_172107.4(KCNQ2):c.2068del (p.Val690fs)
|
rs2079972258
|
|
NM_172107.4(KCNQ2):c.2077del (p.Ser693fs)
|
|
|
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)
|
rs2079971597
|
|
NM_172107.4(KCNQ2):c.2082C>G (p.Ser694Arg)
|
|
|
NM_172107.4(KCNQ2):c.2090G>A (p.Gly697Asp)
|
rs1398433237
|
|
NM_172107.4(KCNQ2):c.2094GAA[1] (p.Lys699del)
|
rs777593960
|
|
NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu)
|
rs1426709866
|
|
NM_172107.4(KCNQ2):c.2100C>A (p.Asn700Lys)
|
|
|
NM_172107.4(KCNQ2):c.2100C>T (p.Asn700=)
|
|
|
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)
|
rs758334927
|
|
NM_172107.4(KCNQ2):c.2103C>G (p.Phe701Leu)
|
rs554863606
|
|
NM_172107.4(KCNQ2):c.2109G>T (p.Ala703=)
|
|
|
NM_172107.4(KCNQ2):c.2111C>T (p.Pro704Leu)
|
|
|
NM_172107.4(KCNQ2):c.2115G>C (p.Pro705=)
|
|
|
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
|
|
|
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=)
|
rs1269199299
|
|
NM_172107.4(KCNQ2):c.2123C>A (p.Pro708His)
|
rs1360560623
|
|
NM_172107.4(KCNQ2):c.2124C>G (p.Pro708=)
|
|
|
NM_172107.4(KCNQ2):c.2126C>T (p.Pro709Leu)
|
rs2079968880
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172107.4(KCNQ2):c.2127T>G (p.Pro709=)
|
|
|
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)
|
rs118192244
|
|
NM_172107.4(KCNQ2):c.2132A>C (p.Gln711Pro)
|
rs2145486666
|
|
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu)
|
rs750333438
|
|
NM_172107.4(KCNQ2):c.2144C>T (p.Ser715Phe)
|
|
|
NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile)
|
rs864321711
|
|
NM_172107.4(KCNQ2):c.2154G>A (p.Trp718Ter)
|
|
|
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
|
|
|
NM_172107.4(KCNQ2):c.2157G>A (p.Gln719=)
|
|
|
NM_172107.4(KCNQ2):c.2159_2173del (p.Pro720_Pro724del)
|
|
|
NM_172107.4(KCNQ2):c.2162A>G (p.Gln721Arg)
|
|
|
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn)
|
rs980574000
|
|
NM_172107.4(KCNQ2):c.216dup (p.Phe73fs)
|
rs2145921332
|
|
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs)
|
rs1060500603
|
|
NM_172107.4(KCNQ2):c.2174G>A (p.Arg725His)
|
rs775271635
|
|
NM_172107.4(KCNQ2):c.2174G>T (p.Arg725Leu)
|
|
|
NM_172107.4(KCNQ2):c.2181C>T (p.Gly727=)
|
rs1025748805
|
|
NM_172107.4(KCNQ2):c.2185G>A (p.Gly729Ser)
|
|
|
NM_172107.4(KCNQ2):c.2196del (p.Val733fs)
|
|
|
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)
|
rs756563523
|
|
NM_172107.4(KCNQ2):c.2198T>C (p.Val733Ala)
|
|
|
NM_172107.4(KCNQ2):c.219C>A (p.Phe73Leu)
|
|
|
NM_172107.4(KCNQ2):c.2203G>A (p.Asp735Asn)
|
rs1333247951
|
|
NM_172107.4(KCNQ2):c.2203G>T (p.Asp735Tyr)
|
|
|
NM_172107.4(KCNQ2):c.2204A>G (p.Asp735Gly)
|
|
|
NM_172107.4(KCNQ2):c.2204del (p.Asp735fs)
|
rs2145486022
|
|
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
|
rs751657917
|
|
NM_172107.4(KCNQ2):c.2216T>A (p.Leu739Gln)
|
rs2079965385
|
|
NM_172107.4(KCNQ2):c.2217G>C (p.Leu739=)
|
rs1555850719
|
|
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys)
|
rs2079965070
|
|
NM_172107.4(KCNQ2):c.2226C>T (p.Ile742=)
|
|
|
NM_172107.4(KCNQ2):c.2229G>T (p.Pro743=)
|
rs1481212168
|
|
NM_172107.4(KCNQ2):c.2231C>T (p.Pro744Leu)
|
|
|
NM_172107.4(KCNQ2):c.2232G>T (p.Pro744=)
|
|
|
NM_172107.4(KCNQ2):c.2237C>T (p.Pro746Leu)
|
|
|
NM_172107.4(KCNQ2):c.223del (p.Arg75fs)
|
rs2145921283
|
|
NM_172107.4(KCNQ2):c.2241C>G (p.Ala747=)
|
|
|
NM_172107.4(KCNQ2):c.2242del (p.His748fs)
|
|
|
NM_172107.4(KCNQ2):c.2243A>C (p.His748Pro)
|
|
|
NM_172107.4(KCNQ2):c.2244C>G (p.His748Gln)
|
|
|
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.2247G>A (p.Glu749=)
|
|
|
NM_172107.4(KCNQ2):c.2248C>T (p.Arg750Trp)
|
rs759060719
|
|
NM_172107.4(KCNQ2):c.2251T>G (p.Ser751Ala)
|
|
|
NM_172107.4(KCNQ2):c.225C>T (p.Arg75=)
|
|
|
NM_172107.4(KCNQ2):c.2260G>C (p.Ala754Pro)
|
|
|
NM_172107.4(KCNQ2):c.2268C>T (p.Gly756=)
|
|
|
NM_172107.4(KCNQ2):c.2271G>A (p.Gly757=)
|
|
|
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del)
|
rs2079961255
|
|
NM_172107.4(KCNQ2):c.2274C>T (p.Gly758=)
|
rs1028898942
|
|
NM_172107.4(KCNQ2):c.2276dup (p.Asn759fs)
|
rs2079962041
|
|
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs)
|
rs1555850590
|
|
NM_172107.4(KCNQ2):c.227dup (p.Leu77fs)
|
|
|
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)
|
rs587780366
|
|
NM_172107.4(KCNQ2):c.2285G>A (p.Ser762Asn)
|
|
|
NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup)
|
rs2079961029
|
|
NM_172107.4(KCNQ2):c.2287A>G (p.Met763Val)
|
|
|
NM_172107.4(KCNQ2):c.2295C>T (p.Phe765=)
|
|
|
NM_172107.4(KCNQ2):c.2296del (p.Leu766fs)
|
rs1057518668
|
|
NM_172107.4(KCNQ2):c.2299C>G (p.Arg767Gly)
|
|
|
NM_172107.4(KCNQ2):c.229C>T (p.Leu77=)
|
|
|
NM_172107.4(KCNQ2):c.2305G>T (p.Glu769Ter)
|
rs2145484794
|
|
NM_172107.4(KCNQ2):c.2309A>G (p.Asp770Gly)
|
|
|
NM_172107.4(KCNQ2):c.2313C>G (p.Thr771=)
|
rs1402873637
|
|
NM_172107.4(KCNQ2):c.2313C>T (p.Thr771=)
|
|
|
NM_172107.4(KCNQ2):c.2314_2315inv (p.Pro772Gly)
|
|
|
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs)
|
rs2079959227
|
|
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)
|
rs1555850512
|
|
NM_172107.4(KCNQ2):c.2321_2322delinsAT (p.Cys774Tyr)
|
rs2079958591
|
|
NM_172107.4(KCNQ2):c.2322C>T (p.Cys774=)
|
|
|
NM_172107.4(KCNQ2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs)
|
rs1601542702
|
|
NM_172107.4(KCNQ2):c.2328C>T (p.Pro776=)
|
rs1601542678
|
|
NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter)
|
rs867848081
|
|
NM_172107.4(KCNQ2):c.232del (p.Gln78fs)
|
rs118192189
|
|
NM_172107.4(KCNQ2):c.2330C>T (p.Pro777Leu)
|
|
|
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
|
|
|
NM_172107.4(KCNQ2):c.2331C>G (p.Pro777=)
|
|
|
NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)
|
|
|
NM_172107.4(KCNQ2):c.2333A>T (p.Glu778Val)
|
|
|
NM_172107.4(KCNQ2):c.2333del (p.Glu778fs)
|
|
|
NM_172107.4(KCNQ2):c.2339del (p.Asn780fs)
|
rs2145484269
|
|
NM_172107.4(KCNQ2):c.2341dup (p.Leu781fs)
|
rs529943494
|
|
NM_172107.4(KCNQ2):c.2346G>A (p.Arg782=)
|
rs1297956699
|
|
NM_172107.4(KCNQ2):c.2348A>G (p.Asp783Gly)
|
|
|
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu)
|
rs781121496
|
|
NM_172107.4(KCNQ2):c.2357C>T (p.Thr786Met)
|
rs754872408
|
|
NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=)
|
|
|
NM_172107.4(KCNQ2):c.2361_2364del (p.Ile788fs)
|
|
|
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs)
|
rs1601542417
|
|
NM_172107.4(KCNQ2):c.236A>G (p.Asn79Ser)
|
|
|
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
|
|
|
NM_172107.4(KCNQ2):c.2370C>T (p.Ile790=)
|
rs762324514
|
|
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)
|
rs377227909
|
|
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)
|
rs1555850403
|
|
NM_172107.4(KCNQ2):c.2381A>G (p.Asp794Gly)
|
|
|
NM_172107.4(KCNQ2):c.2388G>A (p.Glu796=)
|
|
|
NM_172107.4(KCNQ2):c.2389G>A (p.Glu797Lys)
|
|
|
NM_172107.4(KCNQ2):c.2399del (p.Arg800fs)
|
|
|
NM_172107.4(KCNQ2):c.239T>C (p.Phe80Ser)
|
rs2082234077
|
|
NM_172107.4(KCNQ2):c.2400T>C (p.Arg800=)
|
rs2079953374
|
|
NM_172107.4(KCNQ2):c.2403C>G (p.Ser801=)
|
|
|
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)
|
rs796052659
|
|
NM_172107.4(KCNQ2):c.2418del (p.Ser806fs)
|
rs2145483403
|
|
NM_172107.4(KCNQ2):c.2424C>T (p.Ser808=)
|
rs2145483351
|
|
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
|
|
|
NM_172107.4(KCNQ2):c.2425del (p.Gln809fs)
|
rs1057518662
|
|
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro)
|
rs2145921196
|
|
NM_172107.4(KCNQ2):c.2433G>A (p.Lys811=)
|
|
|
NM_172107.4(KCNQ2):c.2435A>C (p.Glu812Ala)
|
|
|
NM_172107.4(KCNQ2):c.2439C>A (p.Asn813Lys)
|
|
|
NM_172107.4(KCNQ2):c.243C>G (p.Leu81=)
|
rs2145921188
|
|
NM_172107.4(KCNQ2):c.2440C>T (p.Leu814=)
|
|
|
NM_172107.4(KCNQ2):c.2446G>T (p.Ala816Ser)
|
rs796052660
|
|
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn)
|
rs1600885336
|
|
NM_172107.4(KCNQ2):c.2470G>A (p.Val824Met)
|
rs750108040
|
|
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly)
|
rs1568858969
|
|
NM_172107.4(KCNQ2):c.2474C>T (p.Ala825Val)
|
|
|
NM_172107.4(KCNQ2):c.2475G>A (p.Ala825=)
|
rs1479290036
|
|
NM_172107.4(KCNQ2):c.2479T>C (p.Cys827Arg)
|
rs2145482847
|
|
NM_172107.4(KCNQ2):c.2480G>T (p.Cys827Phe)
|
rs2145482824
|
|
NM_172107.4(KCNQ2):c.2481T>C (p.Cys827=)
|
|
|
NM_172107.4(KCNQ2):c.2483C>T (p.Ala828Val)
|
|
|
NM_172107.4(KCNQ2):c.2486_2487del (p.Lys829fs)
|
rs2079949302
|
|
NM_172107.4(KCNQ2):c.2490C>G (p.Val830=)
|
rs761275840
|
|
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.2505G>A (p.Ala835=)
|
rs764615246
|
|
NM_172107.4(KCNQ2):c.2505G>C (p.Ala835=)
|
rs764615246
|
|
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
|
|
|
NM_172107.4(KCNQ2):c.2516C>A (p.Ser839Ter)
|
rs2079948012
|
|
NM_172107.4(KCNQ2):c.2524G>C (p.Asp842His)
|
|
|
NM_172107.4(KCNQ2):c.252G>A (p.Val84=)
|
|
|
NM_172107.4(KCNQ2):c.2531A>G (p.Asp844Gly)
|
|
|
NM_172107.4(KCNQ2):c.2533del (p.Leu845fs)
|
rs2145482327
|
|
NM_172107.4(KCNQ2):c.2536T>G (p.Cys846Gly)
|
rs2079947062
|
|
NM_172107.4(KCNQ2):c.2536_2565del (p.Cys846_Ser855del)
|
rs2079945316
|
|
NM_172107.4(KCNQ2):c.2543del (p.Pro848fs)
|
|
|
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
|
|
|
NM_172107.4(KCNQ2):c.254T>A (p.Leu85Gln)
|
|
|
NM_172107.4(KCNQ2):c.254T>C (p.Leu85Pro)
|
rs2082233689
|
|
NM_172107.4(KCNQ2):c.2551C>A (p.Pro851Thr)
|
|
|
NM_172107.4(KCNQ2):c.2555dup (p.Pro853fs)
|
|
|
NM_172107.4(KCNQ2):c.255G>C (p.Leu85=)
|
rs2145921111
|
|
NM_172107.4(KCNQ2):c.2561G>A (p.Arg854His)
|
|
|
NM_172107.4(KCNQ2):c.2561G>T (p.Arg854Leu)
|
rs1238249590
|
|
NM_172107.4(KCNQ2):c.2566G>T (p.Ala856Ser)
|
rs1280612355
|
|
NM_172107.4(KCNQ2):c.2568C>T (p.Ala856=)
|
|
|
NM_172107.4(KCNQ2):c.2568_2574del (p.Thr857fs)
|
rs2145481803
|
|
NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile)
|
|
|
NM_172107.4(KCNQ2):c.2572G>C (p.Gly858Arg)
|
|
|
NM_172107.4(KCNQ2):c.2575G>A (p.Glu859Lys)
|
|
|
NM_172107.4(KCNQ2):c.2577G>A (p.Glu859=)
|
rs1601541438
|
|
NM_172107.4(KCNQ2):c.2578G>C (p.Gly860Arg)
|
|
|
NM_172107.4(KCNQ2):c.257A>G (p.Glu86Gly)
|
|
|
NM_172107.4(KCNQ2):c.2583C>G (p.Pro861=)
|
|
|
NM_172107.4(KCNQ2):c.258G>A (p.Glu86=)
|
|
|
NM_172107.4(KCNQ2):c.258_259delinsAA (p.Glu86_Arg87=)
|
rs2145921082
|
|
NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)
|
|
|
NM_172107.4(KCNQ2):c.2594T>G (p.Val865Gly)
|
|
|
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)
|
rs118192245
|
|
NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)
|
|
|
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)
|
rs1555850151
|
|
NM_172107.4(KCNQ2):c.259C>T (p.Arg87Trp)
|
|
|
NM_172107.4(KCNQ2):c.25G>A (p.Gly9Ser)
|
|
|
NM_172107.4(KCNQ2):c.2603C>G (p.Ala868Gly)
|
|
|
NM_172107.4(KCNQ2):c.2605G>A (p.Gly869Arg)
|
|
|
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)
|
rs118192246
|
|
NM_172107.4(KCNQ2):c.2607G>C (p.Gly869=)
|
|
|
NM_172107.4(KCNQ2):c.2607G>T (p.Gly869=)
|
|
|
NM_172107.4(KCNQ2):c.2607del (p.Arg871fs)
|
|
|
NM_172107.4(KCNQ2):c.2608C>T (p.Pro870Ser)
|
|
|
NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys)
|
rs2079942562
|
|
NM_172107.4(KCNQ2):c.2616G>A (p.Lys872=)
|
|
|
NM_172107.4(KCNQ2):c.2616G>C (p.Lys872Asn)
|
|
|
NM_172107.4(KCNQ2):c.263C>A (p.Pro88Gln)
|
rs2145921050
|
|
NM_172107.4(KCNQ2):c.266G>C (p.Arg89Pro)
|
|
|
NM_172107.4(KCNQ2):c.266G>T (p.Arg89Leu)
|
|
|
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
|
|
|
NM_172107.4(KCNQ2):c.271T>G (p.Trp91Gly)
|
|
|
NM_172107.4(KCNQ2):c.272G>A (p.Trp91Ter)
|
|
|
NM_172107.4(KCNQ2):c.273G>A (p.Trp91Ter)
|
rs2082233410
|
|
NM_172107.4(KCNQ2):c.275C>A (p.Ala92Glu)
|
|
|
NM_172107.4(KCNQ2):c.27C>T (p.Gly9=)
|
rs368031411
|
|
NM_172107.4(KCNQ2):c.280A>G (p.Ile94Val)
|
|
|
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter)
|
rs1555881741
|
|
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)
|
rs2082232988
|
|
NM_172107.4(KCNQ2):c.286C>T (p.His96Tyr)
|
rs2082232988
|
|
NM_172107.4(KCNQ2):c.288C>T (p.His96=)
|
rs370799364
|
|
NM_172107.4(KCNQ2):c.296+11G>A
|
|
|
NM_172107.4(KCNQ2):c.296+15G>C
|
|
|
NM_172107.4(KCNQ2):c.296+1G>A
|
rs118192190
|
|
NM_172107.4(KCNQ2):c.296+20C>T
|
|
|
NM_172107.4(KCNQ2):c.296+2T>C
|
|
|
NM_172107.4(KCNQ2):c.296+3G>A
|
|
|
NM_172107.4(KCNQ2):c.296+4_296+7del
|
|
|
NM_172107.4(KCNQ2):c.296+5G>A
|
rs2145920846
|
|
NM_172107.4(KCNQ2):c.296+5G>C
|
|
|
NM_172107.4(KCNQ2):c.297-10C>T
|
|
|
NM_172107.4(KCNQ2):c.297-13T>A
|
|
|
NM_172107.4(KCNQ2):c.297-15G>A
|
rs775049542
|
|
NM_172107.4(KCNQ2):c.297-16C>A
|
|
|
NM_172107.4(KCNQ2):c.297-17G>A
|
|
|
NM_172107.4(KCNQ2):c.297-17G>C
|
rs375745899
|
|
NM_172107.4(KCNQ2):c.297-1G>C
|
rs2081442293
|
|
NM_172107.4(KCNQ2):c.297-20C>T
|
|
|
NM_172107.4(KCNQ2):c.297-2A>G
|
rs796052615
|
|
NM_172107.4(KCNQ2):c.297-3C>G
|
|
|
NM_172107.4(KCNQ2):c.297-3del
|
rs2145790004
|
|
NM_172107.4(KCNQ2):c.297-6C>T
|
|
|
NM_172107.4(KCNQ2):c.297-7C>T
|
|
|
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del)
|
rs1064795435
|
|
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His)
|
rs2081442073
|
|
NM_172107.4(KCNQ2):c.303C>T (p.Leu101=)
|
rs145415996
|
|
NM_172107.4(KCNQ2):c.306G>C (p.Leu102=)
|
rs1188736335
|
|
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile)
|
rs1555874588
|
|
NM_172107.4(KCNQ2):c.308T>A (p.Val103Asp)
|
rs2145789820
|
|
NM_172107.4(KCNQ2):c.309T>C (p.Val103=)
|
rs1600796985
|
|
NM_172107.4(KCNQ2):c.312C>T (p.Phe104=)
|
|
|
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del)
|
rs118192191
|
|
NM_172107.4(KCNQ2):c.315del (p.Cys106fs)
|
|
|
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly)
|
rs2145789722
|
|
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)
|
rs864321712
|
|
NM_172107.4(KCNQ2):c.31T>C (p.Tyr11His)
|
rs1270851643
|
|
NM_172107.4(KCNQ2):c.329_332del (p.Ser110fs)
|
rs1064796151
|
|
NM_172107.4(KCNQ2):c.329_334del (p.Ser110_Val111del)
|
|
|
NM_172107.4(KCNQ2):c.330del (p.Val111fs)
|
|
|
NM_172107.4(KCNQ2):c.330dup (p.Val111fs)
|
|
|
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs)
|
rs796052663
|
|
NM_172107.4(KCNQ2):c.336T>G (p.Phe112Leu)
|
rs2081440418
|
|
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe)
|
rs796052616
|
|
NM_172107.4(KCNQ2):c.339C>T (p.Ser113=)
|
|
|
NM_172107.4(KCNQ2):c.33C>A (p.Tyr11Ter)
|
rs2082240394
|
|
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)
|
rs1057516076
|
|
NM_172107.4(KCNQ2):c.341C>G (p.Thr114Ser)
|
rs1057516077
|
|
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile)
|
rs1057516077
|
|
NM_172107.4(KCNQ2):c.345C>T (p.Ile115=)
|
|
|
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del)
|
rs118192192
|
|
NM_172107.4(KCNQ2):c.347A>G (p.Lys116Arg)
|
|
|
NM_172107.4(KCNQ2):c.351G>A (p.Glu117=)
|
|
|
NM_172107.4(KCNQ2):c.353A>G (p.Tyr118Cys)
|
|
|
NM_172107.4(KCNQ2):c.354T>G (p.Tyr118Ter)
|
rs2145789339
|
|
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly)
|
rs118192193
|
|
NM_172107.4(KCNQ2):c.363_372del (p.Ser121fs)
|
rs2145789182
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.366G>A (p.Ser122=)
|
|
|
NM_172107.4(KCNQ2):c.367del (p.Glu123fs)
|
rs2145789218
|
|
NM_172107.4(KCNQ2):c.36C>G (p.Pro12=)
|
|
|
NM_172107.4(KCNQ2):c.36C>T (p.Pro12=)
|
|
|
NM_172107.4(KCNQ2):c.372G>A (p.Gly124=)
|
|
|
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)
|
rs1568944870
|
|
NM_172107.4(KCNQ2):c.378C>T (p.Leu126=)
|
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.381C>T (p.Tyr127=)
|
|
|
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)
|
rs1381622639
|
|
NM_172107.4(KCNQ2):c.387+19C>T
|
|
|
NM_172107.4(KCNQ2):c.387+1G>A
|
|
|
NM_172107.4(KCNQ2):c.387+1G>T
|
rs118192195
|
|
NM_172107.4(KCNQ2):c.387+2T>C
|
rs2145789008
|
|
NM_172107.4(KCNQ2):c.387+5G>A
|
rs2081437856
|
|
NM_172107.4(KCNQ2):c.387+9C>G
|
|
|
NM_172107.4(KCNQ2):c.388-1G>A
|
rs6089914
|
|
NM_172107.4(KCNQ2):c.388-1_389del
|
rs118192196
|
|
NM_172107.4(KCNQ2):c.388-2A>G
|
rs2145779858
|
|
NM_172107.4(KCNQ2):c.388-3C>T
|
rs1555874020
|
|
NM_172107.4(KCNQ2):c.388-6C>T
|
rs1271943231
|
|
NM_172107.4(KCNQ2):c.388-8C>T
|
|
|
NM_172107.4(KCNQ2):c.388-9C>G
|
rs371784719
|
|
NM_172107.4(KCNQ2):c.388-9C>T
|
rs371784719
|
|
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys)
|
rs864321710
|
|
NM_172107.4(KCNQ2):c.392T>C (p.Ile131Thr)
|
rs2145779784
|
|
NM_172107.4(KCNQ2):c.393C>T (p.Ile131=)
|
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.397A>G (p.Thr133Ala)
|
|
|
NM_172107.4(KCNQ2):c.39C>T (p.Gly13=)
|
|
|
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile)
|
rs866273848
|
|
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val)
|
rs2081381281
|
|
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn)
|
rs2145779680
|
|
NM_172107.4(KCNQ2):c.403G>A (p.Val135Met)
|
|
|
NM_172107.4(KCNQ2):c.403G>T (p.Val135Leu)
|
rs775649577
|
|
NM_172107.4(KCNQ2):c.403GTG[1] (p.Val136del)
|
|
|
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
|
|
|
NM_172107.4(KCNQ2):c.415G>C (p.Val139Leu)
|
|
|
NM_172107.4(KCNQ2):c.418_421del (p.Glu140fs)
|
|
|
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala)
|
rs2145779552
|
|
NM_172107.4(KCNQ2):c.423C>G (p.Tyr141Ter)
|
|
|
NM_172107.4(KCNQ2):c.427G>A (p.Val143Met)
|
rs768237205
|
|
NM_172107.4(KCNQ2):c.427G>T (p.Val143Leu)
|
rs768237205
|
|
NM_172107.4(KCNQ2):c.42G>C (p.Pro14=)
|
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.432del (p.Ile145fs)
|
rs2145779418
|
|
NM_172107.4(KCNQ2):c.437G>A (p.Trp146Ter)
|
rs2145779397
|
|
NM_172107.4(KCNQ2):c.438G>A (p.Trp146Ter)
|
|
|
NM_172107.4(KCNQ2):c.439del (p.Ala147fs)
|
rs1555873981
|
|
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)
|
rs2081379814
|
|
NM_172107.4(KCNQ2):c.443C>A (p.Ala148Glu)
|
rs2145779347
|
|
NM_172107.4(KCNQ2):c.444A>C (p.Ala148=)
|
|
|
NM_172107.4(KCNQ2):c.446_459del (p.Gly149fs)
|
|
|
NM_172107.4(KCNQ2):c.447C>G (p.Gly149=)
|
|
|
NM_172107.4(KCNQ2):c.448T>C (p.Cys150Arg)
|
|
|
NM_172107.4(KCNQ2):c.449G>A (p.Cys150Tyr)
|
|
|
NM_172107.4(KCNQ2):c.450C>T (p.Cys150=)
|
|
|
NM_172107.4(KCNQ2):c.457C>A (p.Arg153=)
|
|
|
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
|
|
|
NM_172107.4(KCNQ2):c.459del (p.Tyr154fs)
|
rs2145779218
|
|
NM_172107.4(KCNQ2):c.45C>A (p.Ser15Arg)
|
|
|
NM_172107.4(KCNQ2):c.45C>T (p.Ser15=)
|
|
|
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp)
|
rs1057516078
|
|
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
|
|
|
NM_172107.4(KCNQ2):c.463C>G (p.Arg155Gly)
|
|
|
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys)
|
rs886042698
|
|
NM_172107.4(KCNQ2):c.464G>A (p.Arg155His)
|
rs779076192
|
|
NM_172107.4(KCNQ2):c.466G>A (p.Gly156Ser)
|
rs2145779171
|
|
NM_172107.4(KCNQ2):c.466G>C (p.Gly156Arg)
|
|
|
NM_172107.4(KCNQ2):c.46G>T (p.Gly16Trp)
|
rs776118228
|
|
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter)
|
rs1057516079
|
|
NM_172107.4(KCNQ2):c.473G>A (p.Arg158Lys)
|
rs2145779118
|
|
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg)
|
rs1057516080
|
|
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu)
|
rs1057516081
|
|
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)
|
rs1057516081
|
|
NM_172107.4(KCNQ2):c.477G>A (p.Gly159=)
|
|
|
NM_172107.4(KCNQ2):c.477del (p.Arg160fs)
|
rs2081378550
|
|
NM_172107.4(KCNQ2):c.479G>T (p.Arg160Leu)
|
|
|
NM_172107.4(KCNQ2):c.483C>T (p.Leu161=)
|
rs2145778932
|
|
NM_172107.4(KCNQ2):c.48G>T (p.Gly16=)
|
rs1411370333
|
|
NM_172107.4(KCNQ2):c.493C>T (p.Arg165Trp)
|
|
|
NM_172107.4(KCNQ2):c.493dup (p.Arg165fs)
|
rs2145778884
|
|
NM_172107.4(KCNQ2):c.494G>A (p.Arg165Gln)
|
|
|
NM_172107.4(KCNQ2):c.498dup (p.Pro167fs)
|
|
|
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)
|
rs2145922320
|
|
NM_172107.4(KCNQ2):c.507_514+10del
|
rs2081377258
|
|
NM_172107.4(KCNQ2):c.510G>T (p.Val170=)
|
|
|
NM_172107.4(KCNQ2):c.514+17G>T
|
|
|
NM_172107.4(KCNQ2):c.514+1G>A
|
rs2145778708
|
|
NM_172107.4(KCNQ2):c.514+2T>C
|
|
|
NM_172107.4(KCNQ2):c.514+4A>T
|
rs1555873930
|
|
NM_172107.4(KCNQ2):c.514+5G>A
|
rs2081377457
|
|
NM_172107.4(KCNQ2):c.514+8C>G
|
|
|
NM_172107.4(KCNQ2):c.514+9T>C
|
rs767715045
|
|
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
|
|
|
NM_172107.4(KCNQ2):c.515-10C>T
|
|
|
NM_172107.4(KCNQ2):c.515-11C>T
|
|
|
NM_172107.4(KCNQ2):c.515-18T>C
|
|
|
NM_172107.4(KCNQ2):c.515-19C>T
|
|
|
NM_172107.4(KCNQ2):c.515-29_515-19del
|
rs2145776444
|
|
NM_172107.4(KCNQ2):c.515-4G>C
|
rs1600786663
|
|
NM_172107.4(KCNQ2):c.515-8C>G
|
|
|
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly)
|
rs1555873823
|
|
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
|
|
|
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp)
|
rs2082239531
|
|
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu)
|
rs1057516082
|
|
NM_172107.4(KCNQ2):c.523G>T (p.Val175Leu)
|
|
|
NM_172107.4(KCNQ2):c.531C>G (p.Ile177Met)
|
|
|
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr)
|
rs1555873790
|
|
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val)
|
rs2145776110
|
|
NM_172107.4(KCNQ2):c.536C>G (p.Ser179Cys)
|
|
|
NM_172107.4(KCNQ2):c.537C>T (p.Ser179=)
|
|
|
NM_172107.4(KCNQ2):c.539T>C (p.Ile180Thr)
|
|
|
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.545T>C (p.Val182Ala)
|
|
|
NM_172107.4(KCNQ2):c.550del (p.Ala184fs)
|
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.555C>T (p.Ala185=)
|
rs182946332
|
|
NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser)
|
rs2081363570
|
|
NM_172107.4(KCNQ2):c.557G>T (p.Gly186Val)
|
|
|
NM_172107.4(KCNQ2):c.558C>G (p.Gly186=)
|
|
|
NM_172107.4(KCNQ2):c.55A>C (p.Lys19Gln)
|
|
|
NM_172107.4(KCNQ2):c.560C>T (p.Ser187Phe)
|
rs2081363375
|
|
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys)
|
rs2081363302
|
|
NM_172107.4(KCNQ2):c.562del (p.Gln188fs)
|
|
|
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
|
|
|
NM_172107.4(KCNQ2):c.564G>C (p.Gln188His)
|
|
|
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
|
|
|
NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val)
|
rs1057516083
|
|
NM_172107.4(KCNQ2):c.568A>C (p.Asn190His)
|
|
|
NM_172107.4(KCNQ2):c.569A>G (p.Asn190Ser)
|
|
|
NM_172107.4(KCNQ2):c.569A>T (p.Asn190Ile)
|
rs2145775795
|
|
NM_172107.4(KCNQ2):c.570C>A (p.Asn190Lys)
|
rs116087798
|
|
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile)
|
rs745564113
|
|
NM_172107.4(KCNQ2):c.572T>C (p.Val191Ala)
|
|
|
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)
|
rs796052619
|
|
NM_172107.4(KCNQ2):c.57G>A (p.Lys19=)
|
|
|
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)
|
rs2081362775
|
|
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)
|
rs796052620
|
|
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)
|
rs118192197
|
|
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs)
|
rs118192198
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp)
|
rs2145775614
|
|
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs)
|
rs1057516084
|
|
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.597C>A (p.Ser199Arg)
|
|
|
NM_172107.4(KCNQ2):c.598C>T (p.Leu200=)
|
rs2145775549
|
|
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)
|
|
|
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.603C>A (p.Arg201=)
|
rs1057524529
|
|
NM_172107.4(KCNQ2):c.605dup (p.Leu203fs)
|
|
|
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro)
|
rs1057516086
|
|
NM_172107.4(KCNQ2):c.60G>A (p.Leu20=)
|
|
|
NM_172107.4(KCNQ2):c.610del (p.Gln204fs)
|
rs2145775420
|
|
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His)
|
rs796052625
|
|
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)
|
rs1057516087
|
|
NM_172107.4(KCNQ2):c.615T>G (p.Ile205Met)
|
rs971211988
|
|
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.61A>G (p.Lys21Glu)
|
rs2145922229
|
|
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)
|
rs118192200
|
|
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)
|
rs118192201
|
|
NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr)
|
rs1600785769
|
|
NM_172107.4(KCNQ2):c.626T>G (p.Ile209Ser)
|
rs1600785769
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
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.630C>A (p.Arg210=)
|
rs1256399477
|
|
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val)
|
rs1057524599
|
|
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
|
|
|
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
|
|
|
NM_172107.4(KCNQ2):c.635A>C (p.Asp212Ala)
|
rs118192202
|
|
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)
|
rs118192202
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)
|
rs397514581
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)
|
rs1057518555
|
|
NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg)
|
rs1057516088
|
|
NM_172107.4(KCNQ2):c.644del (p.Gly215fs)
|
rs2145774901
|
|
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro)
|
rs1057516089
|
|
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)
|
rs1057516089
|
|
NM_172107.4(KCNQ2):c.64G>A (p.Val22Met)
|
rs2082239153
|
|
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn)
|
rs1057516090
|
|
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
|
|
|
NM_172107.4(KCNQ2):c.652T>A (p.Trp218Arg)
|
rs892572733
|
|
NM_172107.4(KCNQ2):c.652T>C (p.Trp218Arg)
|
|
|
NM_172107.4(KCNQ2):c.653G>A (p.Trp218Ter)
|
rs2145774742
|
|
NM_172107.4(KCNQ2):c.654dup (p.Lys219fs)
|
|
|
NM_172107.4(KCNQ2):c.658C>A (p.Leu220Met)
|
|
|
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs)
|
rs118192187
|
|
NM_172107.4(KCNQ2):c.660G>T (p.Leu220=)
|
|
|
NM_172107.4(KCNQ2):c.665G>A (p.Gly222Asp)
|
rs2145774681
|
|
NM_172107.4(KCNQ2):c.667T>C (p.Ser223Pro)
|
rs2081358991
|
|
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)
|
rs2145774638
|
|
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
|
|
|
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)
|
rs2145774625
|
|
NM_172107.4(KCNQ2):c.673G>T (p.Val225Phe)
|
|
|
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val)
|
rs2145774563
|
|
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
|
|
|
NM_172107.4(KCNQ2):c.682del (p.His228fs)
|
|
|
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)
|
rs118192204
|
|
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
|
|
|
NM_172107.4(KCNQ2):c.686G>T (p.Ser229Ile)
|
rs2145774465
|
|
NM_172107.4(KCNQ2):c.687del (p.Ser229fs)
|
rs1555873656
|
|
NM_172107.4(KCNQ2):c.689A>G (p.Lys230Arg)
|
|
|
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met)
|
rs2081358317
|
|
NM_172107.4(KCNQ2):c.690+10G>A
|
|
|
NM_172107.4(KCNQ2):c.690+17A>G
|
|
|
NM_172107.4(KCNQ2):c.690+19G>T
|
rs1340686189
|
|
NM_172107.4(KCNQ2):c.690+1G>A
|
rs2145774426
|
|
NM_172107.4(KCNQ2):c.690+2_690+19del
|
|
|
NM_172107.4(KCNQ2):c.690+7C>T
|
rs917571411
|
|
NM_172107.4(KCNQ2):c.690+9C>G
|
rs369881492
|
|
NM_172107.4(KCNQ2):c.690+9C>T
|
rs369881492
|
|
NM_172107.4(KCNQ2):c.691-1G>A
|
rs2145736858
|
|
NM_172107.4(KCNQ2):c.691-3C>G
|
rs768834593
|
|
NM_172107.4(KCNQ2):c.691-5C>G
|
|
|
NM_172107.4(KCNQ2):c.691-7C>T
|
|
|
NM_172107.4(KCNQ2):c.691G>A (p.Glu231Lys)
|
|
|
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.696G>A (p.Leu232=)
|
|
|
NM_172107.4(KCNQ2):c.696G>C (p.Leu232=)
|
rs2145736763
|
|
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)
|
rs1600767259
|
|
NM_172107.4(KCNQ2):c.697G>C (p.Val233Leu)
|
|
|
NM_172107.4(KCNQ2):c.698T>A (p.Val233Asp)
|
|
|
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro)
|
rs794729197
|
|
NM_172107.4(KCNQ2):c.699C>T (p.Val233=)
|
rs2145736709
|
|
NM_172107.4(KCNQ2):c.699_709del (p.Thr234fs)
|
rs2145736578
|
|
NM_172107.4(KCNQ2):c.69C>T (p.Gly23=)
|
|
|
NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro)
|
rs1057516091
|
|
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala)
|
rs1057516091
|
|
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.704C>G (p.Ala235Gly)
|
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
NM_172107.4(KCNQ2):c.705C>T (p.Ala235=)
|
rs1291672036
|
|
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg)
|
rs942541730
|
|
NM_172107.4(KCNQ2):c.714C>A (p.Ile238=)
|
rs147882199
|
|
NM_172107.4(KCNQ2):c.714C>G (p.Ile238Met)
|
|
|
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)
|
rs147882199
|
|
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
|
|
|
NM_172107.4(KCNQ2):c.715G>C (p.Gly239Arg)
|
rs1057516092
|
|
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)
|
rs796052630
|
|
NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)
|
|
|
NM_172107.4(KCNQ2):c.721_724del (p.Leu241fs)
|
rs2081191595
|
|
NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro)
|
rs2145736444
|
|
NM_172107.4(KCNQ2):c.723T>G (p.Leu241=)
|
rs777739401
|
|
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr)
|
rs2081191454
|
|
NM_172107.4(KCNQ2):c.725G>C (p.Cys242Ser)
|
|
|
NM_172107.4(KCNQ2):c.725G>T (p.Cys242Phe)
|
|
|
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
|
|
|
NM_172107.4(KCNQ2):c.733C>T (p.Leu245=)
|
|
|
NM_172107.4(KCNQ2):c.734T>C (p.Leu245Pro)
|
rs2145736248
|
|
NM_172107.4(KCNQ2):c.737C>T (p.Ala246Val)
|
|
|
NM_172107.4(KCNQ2):c.737_748del (p.Ala246_Leu249del)
|
|
|
NM_172107.4(KCNQ2):c.738C>T (p.Ala246=)
|
rs2145736209
|
|
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
|
|
|
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.743_751del (p.Phe248_Val250del)
|
|
|
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)
|
rs2081190512
|
|
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)
|
rs2081190344
|
|
NM_172107.4(KCNQ2):c.749T>C (p.Val250Ala)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.750G>A (p.Val250=)
|
|
|
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter)
|
rs2145735982
|
|
NM_172107.4(KCNQ2):c.756G>T (p.Leu252Phe)
|
rs2081190032
|
|
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala)
|
rs794727739
|
|
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly)
|
rs794727739
|
|
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)
|
rs2081189736
|
|
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
|
|
|
NM_172107.4(KCNQ2):c.765G>T (p.Lys255Asn)
|
|
|
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)
|
rs1057518500
|
|
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
|
|
|
NM_172107.4(KCNQ2):c.767G>T (p.Gly256Val)
|
rs1371722284
|
|
NM_172107.4(KCNQ2):c.769G>C (p.Glu257Gln)
|
|
|
NM_172107.4(KCNQ2):c.771G>A (p.Glu257=)
|
|
|
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser)
|
rs118192207
|
|
NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)
|
|
|
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)
|
rs770187706
|
|
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)
|
rs777257591
|
|
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr)
|
rs777257591
|
|
NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly)
|
rs1057518489
|
|
NM_172107.4(KCNQ2):c.777C>A (p.Asp259Glu)
|
rs2081188808
|
|
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)
|
rs1555871832
|
|
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs)
|
rs1568932480
|
|
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.783_787dup (p.Thr263fs)
|
rs1600766500
|
|
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)
|
rs2081188385
|
|
NM_172107.4(KCNQ2):c.787A>T (p.Thr263Ser)
|
|
|
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile)
|
rs1568932462
|
|
NM_172107.4(KCNQ2):c.791A>T (p.Tyr264Phe)
|
|
|
NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter)
|
rs143399744
|
|
NM_172107.4(KCNQ2):c.792C>G (p.Tyr264Ter)
|
rs143399744
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.793G>C (p.Ala265Pro)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.794_795insATCC (p.Asp266fs)
|
rs2081187965
|
|
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
|
|
|
NM_172107.4(KCNQ2):c.796G>C (p.Asp266His)
|
|
|
NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly)
|
rs2081187692
|
|
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
|
|
|
NM_172107.4(KCNQ2):c.798T>C (p.Asp266=)
|
|
|
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)
|
rs2145735332
|
|
NM_172107.4(KCNQ2):c.799G>T (p.Ala267Ser)
|
|
|
NM_172107.4(KCNQ2):c.7del (p.Gln3fs)
|
|
|
NM_172107.4(KCNQ2):c.800C>T (p.Ala267Val)
|
rs2081187554
|
|
NM_172107.4(KCNQ2):c.801A>G (p.Ala267=)
|
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
NM_172107.4(KCNQ2):c.803T>C (p.Leu268Pro)
|
rs864321708
|
|
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser)
|
rs796052633
|
|
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys)
|
rs2081187047
|
|
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.813C>T (p.Gly271=)
|
rs1600766224
|
|
NM_172107.4(KCNQ2):c.814C>A (p.Leu272Met)
|
rs2145735086
|
|
NM_172107.4(KCNQ2):c.816+20G>A
|
rs1178908886
|
|
NM_172107.4(KCNQ2):c.816+2T>A
|
rs2081186625
|
|
NM_172107.4(KCNQ2):c.816+2T>C
|
|
|
NM_172107.4(KCNQ2):c.816+2T>G
|
|
|
NM_172107.4(KCNQ2):c.816+5G>A
|
rs2145735039
|
|
NM_172107.4(KCNQ2):c.817-10G>A
|
rs375363057
|
|
NM_172107.4(KCNQ2):c.817-12G>T
|
rs2081104441
|
|
NM_172107.4(KCNQ2):c.817-17A>G
|
|
|
NM_172107.4(KCNQ2):c.817-18G>A
|
rs1430967332
|
|
NM_172107.4(KCNQ2):c.817-1G>A
|
rs2145719805
|
|
NM_172107.4(KCNQ2):c.817-2A>G
|
|
|
NM_172107.4(KCNQ2):c.817-3C>T
|
rs2081103894
|
|
NM_172107.4(KCNQ2):c.817-7C>T
|
|
|
NM_172107.4(KCNQ2):c.820A>T (p.Thr274Ser)
|
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.822G>T (p.Thr274=)
|
|
|
NM_172107.4(KCNQ2):c.825G>A (p.Leu275=)
|
|
|
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
|
|
|
NM_172107.4(KCNQ2):c.827C>A (p.Thr276Asn)
|
rs1057516095
|
|
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile)
|
rs1057516095
|
|
NM_172107.4(KCNQ2):c.828C>T (p.Thr276=)
|
|
|
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
|
|
|
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
|
rs1600755607
|
|
NM_172107.4(KCNQ2):c.830C>G (p.Thr277Ser)
|
|
|
NM_172107.4(KCNQ2):c.832A>G (p.Ile278Val)
|
|
|
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe)
|
rs780872303
|
|
NM_172107.4(KCNQ2):c.832_845dup (p.Asp282fs)
|
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.834T>A (p.Ile278=)
|
|
|
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met)
|
rs1272165811
|
|
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
|
|
|
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)
|
rs1057516096
|
|
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)
|
rs2145719551
|
|
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
|
|
|
NM_172107.4(KCNQ2):c.837C>G (p.Gly279=)
|
|
|
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)
|
rs2081102604
|
|
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.841G>C (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.845del (p.Asp282fs)
|
rs1568927747
|
|
NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu)
|
|
|
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)
|
rs1600755429
|
|
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs)
|
rs118192210
|
|
NM_172107.4(KCNQ2):c.848del (p.Lys283fs)
|
rs1555870506
|
|
NM_172107.4(KCNQ2):c.849G>A (p.Lys283=)
|
rs1055291761
|
|
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)
|
|
|
NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp)
|
rs864321706
|
|
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)
|
rs28939683
|
|
NM_172107.4(KCNQ2):c.852C>T (p.Tyr284=)
|
|
|
NM_172107.4(KCNQ2):c.853C>A (p.Pro285Thr)
|
|
|
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)
|
rs2081101244
|
|
NM_172107.4(KCNQ2):c.854C>A (p.Pro285His)
|
rs1057516097
|
|
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
|
|
|
NM_172107.4(KCNQ2):c.856del (p.Gln286fs)
|
rs1555870470
|
|
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs)
|
rs1555870470
|
|
NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)
|
|
|
NM_172107.4(KCNQ2):c.858G>A (p.Gln286=)
|
rs867502020
|
|
NM_172107.4(KCNQ2):c.85C>A (p.Pro29Thr)
|
|
|
NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn)
|
rs727503973
|
|
NM_172107.4(KCNQ2):c.864G>C (p.Trp288Cys)
|
rs2081100544
|
|
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)
|
rs1057516098
|
|
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
|
|
|
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)
|
rs397514582
|
|
NM_172107.4(KCNQ2):c.870C>T (p.Gly290=)
|
rs2145719067
|
|
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser)
|
rs1057519535
|
|
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
|
|
|
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)
|
rs1060500602
|
|
NM_172107.4(KCNQ2):c.876C>T (p.Leu292=)
|
rs2081100018
|
|
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe)
|
rs2081099943
|
|
NM_172107.4(KCNQ2):c.878T>C (p.Leu293Pro)
|
rs2145718961
|
|
NM_172107.4(KCNQ2):c.880G>A (p.Ala294Thr)
|
|
|
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser)
|
rs2081099858
|
|
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
|
|
|
NM_172107.4(KCNQ2):c.881C>A (p.Ala294Glu)
|
|
|
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly)
|
rs118192211
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.882G>A (p.Ala294=)
|
|
|
NM_172107.4(KCNQ2):c.883del (p.Ala295fs)
|
rs2145718887
|
|
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro)
|
rs756921902
|
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NM_172107.4(KCNQ2):c.887C>A (p.Thr296Asn)
|
rs2081099327
|
|
NM_172107.4(KCNQ2):c.891C>G (p.Phe297Leu)
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|
|
NM_172107.4(KCNQ2):c.894C>T (p.Thr298=)
|
rs2145718768
|
|
NM_172107.4(KCNQ2):c.895C>G (p.Leu299Val)
|
rs2145718755
|
|
NM_172107.4(KCNQ2):c.896T>G (p.Leu299Arg)
|
|
|
NM_172107.4(KCNQ2):c.897C>G (p.Leu299=)
|
|
|
NM_172107.4(KCNQ2):c.89_99del (p.Gly30fs)
|
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.904G>T (p.Val302Phe)
|
|
|
NM_172107.4(KCNQ2):c.908C>G (p.Ser303Cys)
|
rs2081098548
|
|
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.911T>G (p.Phe304Cys)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
|
|
|
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)
|
rs775918190
|
|
NM_172107.4(KCNQ2):c.915C>G (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>A (p.Ala306Glu)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.91G>T (p.Ala31Ser)
|
|
|
NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)
|
|
|
NM_172107.4(KCNQ2):c.920T>G (p.Leu307Arg)
|
|
|
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
|
|
|
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
|
|
|
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
|
|
|
NM_172107.4(KCNQ2):c.927+10G>A
|
|
|
NM_172107.4(KCNQ2):c.927+11C>T
|
|
|
NM_172107.4(KCNQ2):c.927+18del
|
|
|
NM_172107.4(KCNQ2):c.927+1G>A
|
rs1555870346
|
|
NM_172107.4(KCNQ2):c.927+1G>C
|
rs1555870346
|
|
NM_172107.4(KCNQ2):c.927+1G>T
|
rs1555870346
|
|
NM_172107.4(KCNQ2):c.927+2T>C
|
rs2081097112
|
|
NM_172107.4(KCNQ2):c.927+5G>A
|
|
|
NM_172107.4(KCNQ2):c.928-10T>A
|
|
|
NM_172107.4(KCNQ2):c.928-1G>C
|
rs1057516102
|
|
NM_172107.4(KCNQ2):c.928-3C>A
|
|
|
NM_172107.4(KCNQ2):c.928-6T>C
|
|
|
NM_172107.4(KCNQ2):c.928-7_933del
|
|
|
NM_172107.4(KCNQ2):c.928-8A>T
|
|
|
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)
|
rs1568925719
|
|
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe)
|
rs2145712758
|
|
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
|
|
|
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)
|
rs796052639
|
|
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs)
|
rs118192213
|
|
NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)
|
|
|
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg)
|
rs864321709
|
|
NM_172107.4(KCNQ2):c.945G>A (p.Gly315=)
|
|
|
NM_172107.4(KCNQ2):c.946T>C (p.Phe316Leu)
|
rs2145712640
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_172107.4(KCNQ2):c.950C>T (p.Ala317Val)
|
|
|
NM_172107.4(KCNQ2):c.952C>T (p.Leu318=)
|
|
|
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)
|
rs2145712576
|
|
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile)
|
rs2145712541
|
|
NM_172107.4(KCNQ2):c.958G>T (p.Val320Phe)
|
rs2145712541
|
|
NM_172107.4(KCNQ2):c.958_993dup (p.Val320_Lys331dup)
|
rs1568925507
|
|
NM_172107.4(KCNQ2):c.965A>G (p.Glu322Gly)
|
|
|
NM_172107.4(KCNQ2):c.966G>A (p.Glu322=)
|
rs2145712522
|
|
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)
|
rs118192214
|
|
NM_172107.4(KCNQ2):c.967del (p.Gln323fs)
|
rs2145712498
|
|
NM_172107.4(KCNQ2):c.96C>T (p.Pro32=)
|
rs2145921995
|
|
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr)
|
rs2145712459
|
|
NM_172107.4(KCNQ2):c.973A>C (p.Arg325=)
|
rs1057516103
|
|
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)
|
rs1057516103
|
|
NM_172107.4(KCNQ2):c.975G>A (p.Arg325=)
|
|
|
NM_172107.4(KCNQ2):c.981G>T (p.Lys327Asn)
|
rs2145712415
|
|
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn)
|
rs1555869803
|
|
NM_172107.4(KCNQ2):c.983A>G (p.His328Arg)
|
|
|
NM_172107.4(KCNQ2):c.987del (p.Phe329fs)
|
|
|
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)
|
rs1555869758
|
|
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys)
|
rs796052640
|
|
NM_172107.4(KCNQ2):c.996G>A (p.Arg332=)
|
rs2145712244
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)
|
rs118192216
|
|
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
|
|
|
NM_172107.4(KCNQ2):c.9G>A (p.Gln3=)
|
|
|