ClinVar Miner

List of variants in gene KCNQ2

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Gene type:
ClinVar version:
Total variants: 779
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HGVS dbSNP
GRCh37/hg19 20q13.33(chr20:62045767-62055866)x1
GRCh37/hg19 20q13.33(chr20:62051174-62078598)x1
GRCh37/hg19 20q13.33(chr20:62075098-62119121)x4
KCNQ2, 1-BP DEL, 1846T
KCNQ2, 10-BP DEL/1-BP INS, NT761
NC_000020.10:g.(?_62037977)_(62103836_?)del
NC_000020.10:g.(?_62044803)_(62045546_?)del
NC_000020.10:g.(?_62059700)_(62065276_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)del
NC_000020.11:g.(?_63413450)_(63415126_?)del
NC_000020.11:g.63413761_63413762del
NC_000020.11:g.63419886dup
NC_000020.11:g.63442536G>A
NC_000020.11:g.63442560_63442562del
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.297delG (p.Phe100Serfs) rs886041611
NM_172107.2(KCNQ2):c.314_316delCCT (p.Ser105del) rs118192191
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_172107.2:c.1067T>C
NM_172107.2:c.1075A>G
NM_172107.2:c.1076C>A
NM_172107.2:c.1259C>T
NM_172107.2:c.128C>T
NM_172107.2:c.1573T>A
NM_172107.2:c.1687G>A
NM_172107.2:c.1742G>A
NM_172107.2:c.1940G>A
NM_172107.2:c.1955C>G
NM_172107.2:c.2072G>A
NM_172107.2:c.2299C>T
NM_172107.2:c.2329C>T
NM_172107.2:c.2465C>T
NM_172107.2:c.2T>A
NM_172107.2:c.319C>T
NM_172107.2:c.583T>C
NM_172107.2:c.593G>A
NM_172107.2:c.601C>T
NM_172107.2:c.998G>A
NM_172107.3(KCNQ2):c.(?_-177)_690+?del
NM_172107.3(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.3(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.3(KCNQ2):c.1076C>A (p.Thr359Lys) rs118192219
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.3(KCNQ2):c.1248-?_*(455_?)del
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC rs1555854857
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC rs1555854856
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC rs1555854855
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC rs1555854852
NM_172107.3(KCNQ2):c.1324C>T (p.Arg442Cys) rs1354411692
NM_172107.3(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.3(KCNQ2):c.1526-3dup rs974502886
NM_172107.3(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.1764-?_*(455_?)del
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1872del (p.Lys625Argfs) rs1568864658
NM_172107.3(KCNQ2):c.1888del (p.Val630Serfs) rs796052668
NM_172107.3(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552
NM_172107.3(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
NM_172107.3(KCNQ2):c.2029C>T (p.Arg677Trp)
NM_172107.3(KCNQ2):c.2072G>A (p.Arg691His) rs773194884
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr)
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.3(KCNQ2):c.2279G>A (p.Arg760His) rs758530960
NM_172107.3(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361
NM_172107.3(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.3(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661
NM_172107.3(KCNQ2):c.2504C>T (p.Ala835Val)
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.3(KCNQ2):c.387+18del rs1064794936
NM_172107.3(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.812G>A (p.Gly271Asp)
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
NM_172107.4(KCNQ2):c.*110G>A rs141692577
NM_172107.4(KCNQ2):c.*248C>T rs6122440
NM_172107.4(KCNQ2):c.*295C>T rs34690549
NM_172107.4(KCNQ2):c.*412C>T rs886056920
NM_172107.4(KCNQ2):c.*413G>A rs886056919
NM_172107.4(KCNQ2):c.*421C>T rs578175518
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.-107G>A rs886056923
NM_172107.4(KCNQ2):c.-11C>T rs182089624
NM_172107.4(KCNQ2):c.-150C>A rs554261385
NM_172107.4(KCNQ2):c.-15C>A rs796052611
NM_172107.4(KCNQ2):c.-169G>T rs886056924
NM_172107.4(KCNQ2):c.-30C>T rs1386824941
NM_172107.4(KCNQ2):c.-32A>G rs796052610
NM_172107.4(KCNQ2):c.-42G>A rs577705653
NM_172107.4(KCNQ2):c.-42G>T rs577705653
NM_172107.4(KCNQ2):c.-46C>G rs572005014
NM_172107.4(KCNQ2):c.-83G>T rs886056922
NM_172107.4(KCNQ2):c.-88G>T rs185287315
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala)
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.1009G>A (p.Ala337Thr) rs796052642
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>G (p.Leu339Arg) rs118192217
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met) rs752073942
NM_172107.4(KCNQ2):c.1023+17C>G rs1057522826
NM_172107.4(KCNQ2):c.1023+19C>T rs761878820
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699
NM_172107.4(KCNQ2):c.1024-164G>A
NM_172107.4(KCNQ2):c.1024-19C>T rs752162043
NM_172107.4(KCNQ2):c.1024-204C>T
NM_172107.4(KCNQ2):c.1024-2A>G rs1057516104
NM_172107.4(KCNQ2):c.1024-6C>G rs796052608
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1049A>T (p.Asn350Ile) rs772800738
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.1053C>T (p.Leu351=) rs1030017847
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) rs1057516108
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.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val) rs1057516109
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.106del (p.Arg36fs)
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe) rs1057516110
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys)
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.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter) rs1085307463
NM_172107.4(KCNQ2):c.1098G>A (p.Thr366=) rs758961686
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg) rs765394232
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs)
NM_172107.4(KCNQ2):c.1118+11C>T rs138176417
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1118+53A>G rs780492963
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1118+8C>T rs754114486
NM_172107.4(KCNQ2):c.1119-19G>A rs1428713160
NM_172107.4(KCNQ2):c.1119-4A>G rs749744963
NM_172107.4(KCNQ2):c.1119-8C>G rs1057523550
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) rs1057516113
NM_172107.4(KCNQ2):c.1136A>T (p.Tyr379Phe) rs752773828
NM_172107.4(KCNQ2):c.1137C>T (p.Tyr379=) rs781144303
NM_172107.4(KCNQ2):c.1148+117C>T
NM_172107.4(KCNQ2):c.1148+2T>G rs118192221
NM_172107.4(KCNQ2):c.1149-20C>T rs754997316
NM_172107.4(KCNQ2):c.1149-3C>T rs1555860723
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497
NM_172107.4(KCNQ2):c.1164G>A (p.Leu388=) rs757288108
NM_172107.4(KCNQ2):c.1172T>C (p.Leu391Pro) rs796052646
NM_172107.4(KCNQ2):c.1178del (p.Leu393fs) rs1555860693
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1193_1194AG[1] (p.Lys398_Ser399insTer) rs1057516114
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs) rs587780365
NM_172107.4(KCNQ2):c.1198A>G (p.Lys400Glu) rs796052647
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=) rs756007198
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter) rs1064794001
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=) rs752280961
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp) rs1060500601
NM_172107.4(KCNQ2):c.1217+215C>T
NM_172107.4(KCNQ2):c.1217+298C>T
NM_172107.4(KCNQ2):c.1217+2T>G rs118192223
NM_172107.4(KCNQ2):c.1218-12dup
NM_172107.4(KCNQ2):c.1218-180G>A
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1224C>T (p.Asp408=) rs1060503977
NM_172107.4(KCNQ2):c.1228_1230CCG[1] (p.Pro411del) rs1060499544
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=) rs757596960
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg) rs1270343938
NM_172107.4(KCNQ2):c.1239G>A (p.Pro413=) rs372146620
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.4(KCNQ2):c.1247+113C>T
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1247+304C>T
NM_172107.4(KCNQ2):c.1247+9C>T rs1057523283
NM_172107.4(KCNQ2):c.1248-4C>G rs772465626
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg) rs139164500
NM_172107.4(KCNQ2):c.126C>A (p.Ile42=) rs1555881817
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=) rs781056597
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe)
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser) rs118192224
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=)
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His) rs758074713
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn) rs776223064
NM_172107.4(KCNQ2):c.1301+15G>A rs571128290
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247
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.1302-18_1302-17insCTGTCTGA rs1555854852
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC rs1555854853
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTT rs1555854853
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT rs1555854850
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1302-20_1302-19insCTGTCTGC rs796052609
NM_172107.4(KCNQ2):c.1302-275_1302-274insT
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1329C>G (p.Val443=) rs934839370
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=) rs1316650494
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.1357_1373del (p.Lys453fs) rs1555854643
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116
NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) rs878855236
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) rs1057516117
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs)
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.4(KCNQ2):c.1467C>T (p.Arg489=) rs767486470
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys) rs759338332
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val)
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286
NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro) rs1057516118
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.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=) rs780293757
NM_172107.4(KCNQ2):c.1508C>G (p.Ser503Ter) rs1131691734
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636
NM_172107.4(KCNQ2):c.1525+12C>T rs767442522
NM_172107.4(KCNQ2):c.1525+199A>G
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1526-107C>T
NM_172107.4(KCNQ2):c.1526-163G>A
NM_172107.4(KCNQ2):c.1526-2dup
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
NM_172107.4(KCNQ2):c.1526-6C>T rs763503121
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.4(KCNQ2):c.1539del (p.Gly514fs) rs1064794686
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg) rs772669887
NM_172107.4(KCNQ2):c.1541G>A (p.Gly514Glu) rs1358495877
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) rs1555854036
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr)
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val) rs1555854018
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685
NM_172107.4(KCNQ2):c.1604dup (p.Leu536fs) rs886041608
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.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val) rs796052648
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1631+141C>T
NM_172107.4(KCNQ2):c.1631+18C>T rs773276077
NM_172107.4(KCNQ2):c.1631+19C>T rs770084619
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1631+5G>A rs1178354607
NM_172107.4(KCNQ2):c.1631+8C>T rs1406473226
NM_172107.4(KCNQ2):c.1631G>A (p.Cys544Tyr) rs1057518492
NM_172107.4(KCNQ2):c.1632-12dup rs745393879
NM_172107.4(KCNQ2):c.1632-18C>A rs368910668
NM_172107.4(KCNQ2):c.1632-1G>A rs118192233
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln) rs760984494
NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr) rs1555853613
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg)
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)
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu) rs118192234
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu) rs1555853593
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn)
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs) rs118192231
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs)
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1686C>A (p.Tyr562Ter) rs1057520773
NM_172107.4(KCNQ2):c.1687G>T (p.Asp563Tyr) rs796052653
NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu) rs35450031
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1698C>T (p.Asp566=) rs768228902
NM_172107.4(KCNQ2):c.1700T>A (p.Val567Asp) rs1131691518
NM_172107.4(KCNQ2):c.1709del (p.Gln570fs) rs1555853549
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1733T>C (p.Met578Thr) rs1555853524
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236
NM_172107.4(KCNQ2):c.1742G>T (p.Arg581Leu) rs118192235
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1763+17C>A rs548507063
NM_172107.4(KCNQ2):c.1763+20G>A rs774318503
NM_172107.4(KCNQ2):c.1763+3A>G
NM_172107.4(KCNQ2):c.1764-133A>G
NM_172107.4(KCNQ2):c.1764-1G>C rs796052649
NM_172107.4(KCNQ2):c.1764-283C>T
NM_172107.4(KCNQ2):c.1764-294C>T
NM_172107.4(KCNQ2):c.1764-2A>G rs118192238
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.4(KCNQ2):c.1776C>T (p.Ile592=) rs201868078
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met) rs1203090297
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=) rs587780368
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile) rs751334184
NM_172107.4(KCNQ2):c.1816A>T (p.Lys606Ter) rs1555851516
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs) rs1555851513
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) rs1555851445
NM_172107.4(KCNQ2):c.185C>G (p.Ala62Gly) rs796052612
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) rs796052612
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187
NM_172107.4(KCNQ2):c.1866G>C (p.Arg622=) rs1060503976
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg) rs771211103
NM_172107.4(KCNQ2):c.1887+150T>C
NM_172107.4(KCNQ2):c.1887+16C>A rs369329706
NM_172107.4(KCNQ2):c.1887+16C>T rs369329706
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896
NM_172107.4(KCNQ2):c.1887+1G>T rs796052670
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008
NM_172107.4(KCNQ2):c.1888-138C>G
NM_172107.4(KCNQ2):c.1888-195C>G
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971
NM_172107.4(KCNQ2):c.1888-82C>G
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr)
NM_172107.4(KCNQ2):c.1909C>T (p.Leu637=) rs1057521568
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser) rs780110473
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.1914C>T (p.Asp638=) rs367845107
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro) rs1568862485
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.1930dup (p.Tyr644fs) rs796052666
NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg) rs766755499
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp)
NM_172107.4(KCNQ2):c.1950C>T (p.Ile650=) rs772067813
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=) rs749070370
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.1998G>A (p.Pro666=) rs777059029
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val) rs563291132
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)
NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=) rs542053755
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) rs118192243
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro) rs1326189284
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser) rs577281854
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met) rs373902907
NM_172107.4(KCNQ2):c.2076C>T (p.Ser692=) rs1568861472
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr) rs769558746
NM_172107.4(KCNQ2):c.2085del (p.Thr696fs) rs1131691658
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu)
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs) rs1555850868
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=) rs754279476
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=) rs1269199299
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile) rs864321711
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn) rs980574000
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)
NM_172107.4(KCNQ2):c.2172G>A (p.Pro724=)
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2208C>T (p.His736=) rs566020693
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
NM_172107.4(KCNQ2):c.2217G>C (p.Leu739=) rs1555850719
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
NM_172107.4(KCNQ2):c.2229G>A (p.Pro743=) rs1481212168
NM_172107.4(KCNQ2):c.222C>G (p.Tyr74Ter) rs796052613
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=) rs547655324
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2259C>T (p.Ser753=) rs749802787
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2296del (p.Leu766fs) rs1057518668
NM_172107.4(KCNQ2):c.22G>T (p.Gly8Cys) rs769045070
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs) rs1555850512
NM_172107.4(KCNQ2):c.2321G>T (p.Cys774Phe) rs762596565
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs)
NM_172107.4(KCNQ2):c.232del (p.Gln78fs) rs118192189
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) rs903555499
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475
NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=) rs745990385
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs)
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=) rs749958721
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) rs1555850403
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981
NM_172107.4(KCNQ2):c.2401del (p.Ser801fs) rs1064793852
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu) rs796052659
NM_172107.4(KCNQ2):c.240C>T (p.Phe80=) rs961712229
NM_172107.4(KCNQ2):c.2425del (p.Gln809fs) rs1057518662
NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr) rs796052660
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn)
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr) rs751425807
NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=) rs779798310
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=) rs758071891
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=) rs199621855
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu) rs377633507
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=) rs1568858578
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762
NM_172107.4(KCNQ2):c.2555del (p.Pro852fs) rs1064793317
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu) rs796052662
NM_172107.4(KCNQ2):c.2594_2598TGGGC[3] (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs) rs118192245
NM_172107.4(KCNQ2):c.2600_2604GGGCC[3] (p.Arg871fs) rs118192246
NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro) rs774595024
NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=) rs572267938
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp) rs1392647178
NM_172107.4(KCNQ2):c.274dup (p.Ala92fs) rs886041890
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.4(KCNQ2):c.286dup (p.His96fs) rs1085307905
NM_172107.4(KCNQ2):c.287A>C (p.His96Pro) rs868055567
NM_172107.4(KCNQ2):c.288C>T (p.His96=) rs370799364
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879
NM_172107.4(KCNQ2):c.294C>G (p.Tyr98Ter) rs796052614
NM_172107.4(KCNQ2):c.296+1G>A rs118192190
NM_172107.4(KCNQ2):c.297-10C>G
NM_172107.4(KCNQ2):c.297-15G>A rs775049542
NM_172107.4(KCNQ2):c.297-18C>T rs370109710
NM_172107.4(KCNQ2):c.297-19G>A rs755735309
NM_172107.4(KCNQ2):c.297-297A>G
NM_172107.4(KCNQ2):c.297-2A>G rs796052615
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.300_302CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.4(KCNQ2):c.311T>C (p.Phe104Ser) rs1064796940
NM_172107.4(KCNQ2):c.31T>C (p.Tyr11His) rs1270851643
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.321C>T (p.Leu107=) rs757187562
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met) rs749164961
NM_172107.4(KCNQ2):c.325_328CTGT[1] (p.Ser110fs) rs1064796151
NM_172107.4(KCNQ2):c.331_332GT[1] (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.338_339delinsAT (p.Ser113Tyr) rs1555874555
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile) rs1057516077
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del) rs118192192
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=)
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly) rs118192193
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=) rs1568944870
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.385C>T (p.Leu129=) rs1381622639
NM_172107.4(KCNQ2):c.387+10G>A
NM_172107.4(KCNQ2):c.387+13G>T rs1340593322
NM_172107.4(KCNQ2):c.387+1G>T rs118192195
NM_172107.4(KCNQ2):c.387+24G>T
NM_172107.4(KCNQ2):c.387+9C>T rs751969586
NM_172107.4(KCNQ2):c.388-1_389del rs118192196
NM_172107.4(KCNQ2):c.388-26G>T
NM_172107.4(KCNQ2):c.388-271A>G
NM_172107.4(KCNQ2):c.388-285T>G
NM_172107.4(KCNQ2):c.388-296_388-295dup
NM_172107.4(KCNQ2):c.388-298G>C
NM_172107.4(KCNQ2):c.388-303G>C
NM_172107.4(KCNQ2):c.388-319del
NM_172107.4(KCNQ2):c.388-325A>T
NM_172107.4(KCNQ2):c.388-3C>T rs1555874020
NM_172107.4(KCNQ2):c.388-51C>T
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu)
NM_172107.4(KCNQ2):c.402C>T (p.Ile134=) rs140712277
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=)
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met) rs773083197
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=) rs780770793
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg) rs1555873982
NM_172107.4(KCNQ2):c.439G>C (p.Ala147Pro) rs1568941739
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp) rs1057516078
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
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.479G>C (p.Arg160Pro) rs1057518323
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122
NM_172107.4(KCNQ2):c.505T>C (p.Cys169Arg) rs1555873939
NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe) rs1064793392
NM_172107.4(KCNQ2):c.514+4A>T rs1555873930
NM_172107.4(KCNQ2):c.515-15A>G rs778229459
NM_172107.4(KCNQ2):c.515-76C>T
NM_172107.4(KCNQ2):c.515-9G>A rs755243604
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.518dup (p.Met174fs) rs1555873813
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu) rs1057516082
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=) rs764119402
NM_172107.4(KCNQ2):c.554C>T (p.Ala185Val) rs1131691529
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val) rs1057516083
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile) rs745564113
NM_172107.4(KCNQ2):c.578C>A (p.Ala193Asp) rs796052619
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.592_594delinsA (p.Arg198fs) rs1057516084
NM_172107.4(KCNQ2):c.599T>C (p.Leu200Pro) rs796052622
NM_172107.4(KCNQ2):c.603C>A (p.Arg201=) rs1057524529
NM_172107.4(KCNQ2):c.607C>T (p.Leu203=) rs1057522309
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.611A>G (p.Gln204Arg) rs796052624
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
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.624del (p.Met208fs) rs886039485
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=)
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.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.635A>T (p.Asp212Val) rs118192202
NM_172107.4(KCNQ2):c.636C>A (p.Asp212Glu) rs796052627
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)
NM_172107.4(KCNQ2):c.641G>C (p.Arg214Pro) rs1057518555
NM_172107.4(KCNQ2):c.642G>A (p.Arg214=) rs778319589
NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg) rs1057516088
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) rs1057516090
NM_172107.4(KCNQ2):c.654G>A (p.Trp218Ter) rs1555873683
NM_172107.4(KCNQ2):c.657G>C (p.Lys219Asn) rs770290221
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs) rs118192187
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=) rs1472366685
NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) rs1555873656
NM_172107.4(KCNQ2):c.690+3G>A rs540295078
NM_172107.4(KCNQ2):c.690+9C>T rs369881492
NM_172107.4(KCNQ2):c.691-13G>A rs547887704
NM_172107.4(KCNQ2):c.691-5C>T rs886056921
NM_172107.4(KCNQ2):c.691G>C (p.Glu231Gln) rs1064794063
NM_172107.4(KCNQ2):c.692A>G (p.Glu231Gly) rs796052629
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.698_699insACC (p.Thr234_Ala235insPro) rs794729197
NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro) rs1057516091
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
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.710A>G (p.Tyr237Cys) rs797044935
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
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.724T>G (p.Cys242Gly) rs1555871915
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.729C>T (p.Leu243=) rs755940771
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter) rs74315392
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.741G>A (p.Ser247=) rs184792288
NM_172107.4(KCNQ2):c.743T>C (p.Phe248Ser) rs1057518068
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.4(KCNQ2):c.764A>G (p.Lys255Arg) rs1555871862
NM_172107.4(KCNQ2):c.766G>C (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.769G>T (p.Glu257Ter) rs1555871853
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser) rs118192207
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
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.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.783_787dup (p.Thr263fs)
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile) rs1568932462
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=) rs772452810
NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn) rs796052632
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=) rs143399744
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.795G>A (p.Ala265=) rs148654588
NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu) rs1057519536
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.804C>T (p.Leu268=) rs775450377
NM_172107.4(KCNQ2):c.806G>T (p.Trp269Leu) rs796052633
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.809G>A (p.Trp270Ter) rs796052634
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val) rs118192209
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.4(KCNQ2):c.816+10G>T rs201012161
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124
NM_172107.4(KCNQ2):c.816+9T>C rs772235691
NM_172107.4(KCNQ2):c.817-10G>A
NM_172107.4(KCNQ2):c.817-11C>T rs555632610
NM_172107.4(KCNQ2):c.817-20T>C rs937599567
NM_172107.4(KCNQ2):c.817-5C>T rs774780027
NM_172107.4(KCNQ2):c.818T>A (p.Ile273Asn) rs796052635
NM_172107.4(KCNQ2):c.819C>G (p.Ile273Met) rs771282785
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
NM_172107.4(KCNQ2):c.833T>A (p.Ile278Asn) rs1057523728
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys) rs1568927820
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105
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.847A>G (p.Lys283Glu)
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs) rs118192210
NM_172107.4(KCNQ2):c.848A>G (p.Lys283Arg) rs796052637
NM_172107.4(KCNQ2):c.848del (p.Lys283fs) rs1555870506
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.854C>A (p.Pro285His) rs1057516097
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn) rs727503973
NM_172107.4(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.869G>T (p.Gly290Val) rs397514582
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser)
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.875_876delinsCCT (p.Leu292fs) rs796052664
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro) rs756921902
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=) rs764404303
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.910_912TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=) rs2297385
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.921G>A (p.Leu307=)
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val) rs1057516101
NM_172107.4(KCNQ2):c.927+1G>A rs1555870346
NM_172107.4(KCNQ2):c.927+1G>C
NM_172107.4(KCNQ2):c.928-1G>C rs1057516102
NM_172107.4(KCNQ2):c.928-228G>A
NM_172107.4(KCNQ2):c.928-87G>C
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.932T>A (p.Ile311Asn) rs1131691356
NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser) rs1057518619
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs) rs118192213
NM_172107.4(KCNQ2):c.940T>C (p.Ser314Pro) rs1064795058
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709
NM_172107.4(KCNQ2):c.956A>G (p.Lys319Arg) rs1057524860
NM_172107.4(KCNQ2):c.958_993dup (p.Val320_Lys331dup) rs1568925507
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter) rs118192214
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.981_985delinsCCCGGCAGCAGG (p.Lys327fs) rs1555869796
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn) rs1555869803
NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser) rs1064796535
NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr) rs1568925523
NM_172107.4(KCNQ2):c.992del (p.Lys331fs) rs886042010
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys) rs796052640
Single allele
nsv1197577

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