NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00264
|
NM_172107.4(KCNQ2):c.1763+47G>C
|
rs77658489
|
0.00237
|
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)
|
rs117067974
|
0.00220
|
NM_172107.4(KCNQ2):c.*4G>A
|
rs1801508
|
0.00207
|
NM_172107.4(KCNQ2):c.297-12282C>T
|
rs547793052
|
0.00175
|
NM_172107.4(KCNQ2):c.*5930C>T
|
rs527410863
|
0.00152
|
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=)
|
rs200395340
|
0.00105
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
NM_172107.4(KCNQ2):c.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.1253G>T (p.Gly418Val)
|
rs201750561
|
0.00035
|
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)
|
rs200909197
|
0.00034
|
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.1832C>T (p.Ala611Val)
|
rs199644682
|
0.00015
|
NM_172107.4(KCNQ2):c.2385C>T (p.His795=)
|
rs143016981
|
0.00015
|
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=)
|
rs376713245
|
0.00012
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)
|
rs141951341
|
0.00010
|
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=)
|
rs764525788
|
0.00010
|
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=)
|
rs749958721
|
0.00009
|
NM_172107.4(KCNQ2):c.1764-6C>T
|
rs118192239
|
0.00006
|
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=)
|
rs374526673
|
0.00006
|
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)
|
rs756609768
|
0.00006
|
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=)
|
rs201556105
|
0.00006
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu)
|
rs553337046
|
0.00004
|
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=)
|
rs370777198
|
0.00004
|
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=)
|
rs147453497
|
0.00003
|
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)
|
rs781778855
|
0.00003
|
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro)
|
rs200251507
|
0.00003
|
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=)
|
rs766273173
|
0.00003
|
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=)
|
rs200224824
|
0.00003
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_172107.4(KCNQ2):c.1526-4C>T
|
rs1396502704
|
0.00002
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val)
|
rs1131691879
|
0.00002
|
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=)
|
rs764119402
|
0.00002
|
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)
|
rs752579642
|
0.00001
|
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=)
|
rs951436020
|
0.00001
|
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His)
|
rs1064797286
|
0.00001
|
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=)
|
rs780293757
|
0.00001
|
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=)
|
rs750635636
|
0.00001
|
NM_172107.4(KCNQ2):c.1929C>T (p.Ile643=)
|
rs760044575
|
0.00001
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met)
|
rs373902907
|
0.00001
|
NM_172107.4(KCNQ2):c.2071C>T (p.Arg691Cys)
|
rs1223286018
|
0.00001
|
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=)
|
rs777993694
|
0.00001
|
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=)
|
rs765186960
|
0.00001
|
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
|
rs748400155
|
0.00001
|
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)
|
rs745508762
|
0.00001
|
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=)
|
rs772452810
|
0.00001
|
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)
|
rs915805727
|
0.00001
|
GRCh37/hg19 20q13.33(chr20:62037997-62103816)x1
|
|
|
GRCh37/hg19 20q13.33(chr20:62055530-62065256)x3
|
|
|
GRCh37/hg19 20q13.33(chr20:62103521-62103816)x1
|
|
|
NM_172107.4(KCNQ2):c.*5904C>G
|
|
|
NM_172107.4(KCNQ2):c.*5915C>T
|
|
|
NM_172107.4(KCNQ2):c.*5949G>A
|
|
|
NM_172107.4(KCNQ2):c.*5965A>G
|
|
|
NM_172107.4(KCNQ2):c.1014C>T (p.Gly338=)
|
|
|
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met)
|
rs752073942
|
|
NM_172107.4(KCNQ2):c.1023+94G>T
|
|
|
NM_172107.4(KCNQ2):c.1045A>G (p.Thr349Ala)
|
rs2145680256
|
|
NM_172107.4(KCNQ2):c.1078T>G (p.Trp360Gly)
|
|
|
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys)
|
rs794727935
|
|
NM_172107.4(KCNQ2):c.1104del (p.Val369fs)
|
rs2080902419
|
|
NM_172107.4(KCNQ2):c.1118+3A>G
|
rs1057516112
|
|
NM_172107.4(KCNQ2):c.1118+69C>A
|
rs142571798
|
|
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser)
|
rs1260593444
|
|
NM_172107.4(KCNQ2):c.1137C>A (p.Tyr379Ter)
|
|
|
NM_172107.4(KCNQ2):c.1141dup (p.Ala381fs)
|
rs2080781132
|
|
NM_172107.4(KCNQ2):c.1149-6_1149-5dup
|
rs992228422
|
|
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn)
|
rs1057519123
|
|
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
|
|
|
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
|
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1248-75G>A
|
|
|
NM_172107.4(KCNQ2):c.1368del (p.Ser457fs)
|
rs2145556956
|
|
NM_172107.4(KCNQ2):c.1464C>G (p.Asp488Glu)
|
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
NM_172107.4(KCNQ2):c.153C>G (p.Gly51=)
|
rs2145921682
|
|
NM_172107.4(KCNQ2):c.1583_1584del (p.Val528fs)
|
rs2080211640
|
|
NM_172107.4(KCNQ2):c.1632-11C>G
|
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)
|
rs267607198
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1695G>A (p.Met565Ile)
|
rs2080188612
|
|
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile)
|
rs748571840
|
|
NM_172107.4(KCNQ2):c.1763+1592G>A
|
|
|
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
|
|
|
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
|
|
|
NM_172107.4(KCNQ2):c.1848C>T (p.Asp616=)
|
|
|
NM_172107.4(KCNQ2):c.1851del (p.Ser618fs)
|
rs1601548976
|
|
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=)
|
rs774516728
|
|
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
|
rs1021032210
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.1964C>A (p.Thr655Asn)
|
rs1459962137
|
|
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
|
|
|
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)
|
rs118192185
|
|
NM_172107.4(KCNQ2):c.2090G>T (p.Gly697Val)
|
|
|
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)
|
rs756563523
|
|
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.2281G>A (p.Ala761Thr)
|
rs587780366
|
|
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.2403del (p.Phe802fs)
|
rs2145483535
|
|
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu)
|
rs1202025157
|
|
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=)
|
rs2145482676
|
|
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
|
|
|
NM_172107.4(KCNQ2):c.2583C>A (p.Pro861=)
|
rs1601541414
|
|
NM_172107.4(KCNQ2):c.2618G>A (p.Ter873=)
|
|
|
NM_172107.4(KCNQ2):c.297-12232G>A
|
|
|
NM_172107.4(KCNQ2):c.297-12263G>A
|
|
|
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro)
|
rs1555874569
|
|
NM_172107.4(KCNQ2):c.379T>G (p.Tyr127Asp)
|
|
|
NM_172107.4(KCNQ2):c.388-1G>C
|
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.498A>G (p.Lys166=)
|
rs2145778834
|
|
NM_172107.4(KCNQ2):c.508G>C (p.Val170Leu)
|
rs2145778732
|
|
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr)
|
rs1555873790
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro)
|
rs1064797285
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.649_650del (p.Thr217fs)
|
rs2081359429
|
|
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr)
|
rs2081192615
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu)
|
rs2081190344
|
|
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
|
|
|
NM_172107.4(KCNQ2):c.768G>A (p.Gly256=)
|
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro)
|
rs1057519227
|
|
NM_172107.4(KCNQ2):c.816+1G>A
|
rs1057519124
|
|
NM_172107.4(KCNQ2):c.816+1G>T
|
rs1057519124
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.854C>T (p.Pro285Leu)
|
rs1057516097
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
|
|
|
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)
|
rs1057516103
|
|