NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)
|
rs2303995
|
0.02242
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)
|
rs138852641
|
0.00007
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00002
|
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)
|
rs886039239
|
0.00001
|
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)
|
rs1204519015
|
0.00001
|
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly)
|
rs118192248
|
0.00001
|
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)
|
rs118192236
|
0.00001
|
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)
|
rs12481082
|
0.00001
|
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter)
|
rs74315392
|
0.00001
|
NC_000020.11:g.(?_63413450)_(63415126_?)del
|
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val)
|
rs2130128165
|
|
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr)
|
rs2130121430
|
|
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)
|
rs1554626549
|
|
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)
|
rs1825159081
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln)
|
rs1826712021
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe)
|
rs2130134022
|
|
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys)
|
rs118192247
|
|
NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser)
|
rs1064794632
|
|
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg)
|
rs118192249
|
|
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val)
|
rs118192250
|
|
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)
|
rs1586800133
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)
|
rs1162306056
|
|
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu)
|
rs1162306056
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_172107.2(KCNQ2):c.(?_-177)_690+?del
|
|
|
NM_172107.2(KCNQ2):c.1119-?_*382del
|
|
|
NM_172107.2(KCNQ2):c.1248-?_(*455_?)del
|
|
|
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.1016T>G (p.Leu339Arg)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
|
rs1057516105
|
|
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.1054T>C (p.Ser352Pro)
|
rs1057516108
|
|
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)
|
rs118192218
|
|
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)
|
rs1057516110
|
|
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys)
|
rs1057516111
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
NM_172107.4(KCNQ2):c.1118+3A>G
|
rs1057516112
|
|
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)
|
rs1057516113
|
|
NM_172107.4(KCNQ2):c.1148+2T>G
|
rs118192221
|
|
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)
|
rs118192222
|
|
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer)
|
rs1057516114
|
|
NM_172107.4(KCNQ2):c.1217+2T>G
|
rs118192223
|
|
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)
|
rs1060499544
|
|
NM_172107.4(KCNQ2):c.1247+1G>A
|
rs1057516115
|
|
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)
|
rs118192224
|
|
NM_172107.4(KCNQ2):c.1302-1G>C
|
rs118192225
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs)
|
rs1057516117
|
|
NM_172107.4(KCNQ2):c.1525+1G>A
|
rs118192228
|
|
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs)
|
rs1555854036
|
|
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter)
|
rs1555853983
|
|
NM_172107.4(KCNQ2):c.1631+1G>A
|
rs1057516121
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)
|
rs267607198
|
|
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)
|
rs118192231
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1764-2A>G
|
rs118192238
|
|
NM_172107.4(KCNQ2):c.1764-6C>A
|
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.1783C>T (p.Arg595Trp)
|
rs1555851550
|
|
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs)
|
rs1555851445
|
|
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg)
|
rs118192240
|
|
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)
|
rs118192241
|
|
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs)
|
rs118192242
|
|
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)
|
rs118192185
|
|
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs)
|
rs118192243
|
|
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs)
|
rs118192188
|
|
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)
|
rs118192244
|
|
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)
|
rs1555850512
|
|
NM_172107.4(KCNQ2):c.232del (p.Gln78fs)
|
rs118192189
|
|
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)
|
rs118192245
|
|
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)
|
rs1555850151
|
|
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)
|
rs118192246
|
|
NM_172107.4(KCNQ2):c.296+1G>A
|
rs118192190
|
|
NM_172107.4(KCNQ2):c.297-2A>G
|
rs796052615
|
|
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del)
|
rs118192191
|
|
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs)
|
rs796052663
|
|
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)
|
rs1057516076
|
|
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del)
|
rs118192192
|
|
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.387+1G>T
|
rs118192195
|
|
NM_172107.4(KCNQ2):c.388-1_389del
|
rs118192196
|
|
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp)
|
rs1057516078
|
|
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.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.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)
|
rs118192201
|
|
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)
|
rs118192202
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
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.65_68del (p.Val22fs)
|
rs118192187
|
|
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)
|
rs118192204
|
|
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser)
|
rs118192207
|
|
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs)
|
rs118192210
|
|
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)
|
rs28939683
|
|
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)
|
rs397514582
|
|
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly)
|
rs118192211
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)
|
rs74315390
|
|
NM_172107.4(KCNQ2):c.928-1G>C
|
rs1057516102
|
|
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs)
|
rs118192213
|
|
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)
|
rs118192214
|
|
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)
|
rs118192216
|
|
nsv1197577
|
|
|