NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_000218.3(KCNQ1):c.1239del (p.Lys414fs)
|
rs778786253
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)
|
rs120074183
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.1590+1G>A
|
rs767921776
|
0.00001
|
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)
|
rs199472793
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)
|
rs199472821
|
0.00001
|
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)
|
rs199472678
|
0.00001
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)
|
rs199473399
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly)
|
rs794728569
|
0.00001
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
|
rs199472713
|
0.00001
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
KCNQ1, IVS1
|
|
|
NC_000011.10:g.(?_2527908)_(2528038_?)del
|
|
|
NC_000011.10:g.(?_2570608)_(2573006_?)del
|
|
|
NC_000011.10:g.(?_2570628)_(2572986_?)del
|
|
|
NC_000011.10:g.(?_2583415)_(2588874_?)del
|
|
|
NC_000011.10:g.(?_2583425)_(2583555_?)del
|
|
|
NC_000011.10:g.(?_2583425)_(2588864_?)del
|
|
|
NC_000011.10:g.(?_2583435)_(2583545_?)del
|
|
|
NC_000011.10:g.(?_2585212)_(2587692_?)del
|
|
|
NC_000011.10:g.(?_2775954)_(2777038_?)del
|
|
|
NC_000011.10:g.(?_2775960)_(2777032_?)del
|
|
|
NC_000011.10:g.2276821_2491742del
|
|
|
NC_000011.9:g.(?_2466329)_(2466734_?)del
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)del
|
|
|
NC_000011.9:g.(?_2591848)_(2592643_?)del
|
|
|
NC_000011.9:g.(?_2604665)_(2610084_?)del
|
|
|
NC_000011.9:g.(?_2606422)_(2608942_?)del
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)del
|
|
|
NC_000011.9:g.(?_2797170)_(2798282_?)del
|
|
|
NC_000011.9:g.(?_2799186)_(2799287_?)del
|
|
|
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
|
|
|
NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs)
|
|
|
NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs)
|
rs794728581
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del)
|
rs397508069
|
|
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)
|
rs199472762
|
|
NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)
|
|
|
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1032+1G>C
|
|
|
NM_000218.3(KCNQ1):c.1032+1G>T
|
|
|
NM_000218.3(KCNQ1):c.1032+2T>C
|
rs1848538318
|
|
NM_000218.3(KCNQ1):c.1032+5G>A
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1033-1_1117dup
|
|
|
NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg)
|
rs199473471
|
|
NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg)
|
rs199473471
|
|
NM_000218.3(KCNQ1):c.1038del (p.Gly348fs)
|
|
|
NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter)
|
rs1554894743
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
|
|
|
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)
|
rs794728571
|
|
NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp)
|
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
NM_000218.3(KCNQ1):c.1122del (p.Ile375fs)
|
|
|
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1129-4_1151del
|
|
|
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)
|
rs199472768
|
|
NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp)
|
rs199472770
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs)
|
rs2133758146
|
|
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)
|
rs1554958045
|
|
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)
|
rs1060500629
|
|
NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs)
|
rs2133758295
|
|
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)
|
rs397508082
|
|
NM_000218.3(KCNQ1):c.1207del (p.His403fs)
|
rs1848612978
|
|
NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs)
|
rs2133758446
|
|
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
|
|
|
NM_000218.3(KCNQ1):c.1233del (p.Lys411fs)
|
rs1848613641
|
|
NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs)
|
rs2133758591
|
|
NM_000218.3(KCNQ1):c.1251+1G>A
|
rs1589968661
|
|
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs)
|
rs1554895166
|
|
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs)
|
|
|
NM_000218.3(KCNQ1):c.1325del (p.His442fs)
|
rs1135401944
|
|
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs)
|
rs1848631690
|
|
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs)
|
rs2133760795
|
|
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)
|
rs794728527
|
|
NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs)
|
|
|
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs)
|
rs1554919471
|
|
NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter)
|
rs397508096
|
|
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)
|
rs397508096
|
|
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs)
|
rs1846542419
|
|
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)
|
rs17215500
|
|
NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs)
|
|
|
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)
|
rs199472790
|
|
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)
|
rs199472791
|
|
NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs)
|
|
|
NM_000218.3(KCNQ1):c.1591-1G>A
|
rs1590081328
|
|
NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter)
|
rs1381293874
|
|
NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)
|
rs138551008
|
|
NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs)
|
rs2133559667
|
|
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs)
|
rs1554920580
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)
|
rs397515637
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs)
|
rs794728563
|
|
NM_000218.3(KCNQ1):c.1660del (p.Val554fs)
|
rs794728561
|
|
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)
|
rs199472801
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1685+2T>C
|
rs1590081467
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)
|
rs199472806
|
|
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs)
|
rs397508099
|
|
NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter)
|
rs2133990821
|
|
NM_000218.3(KCNQ1):c.1732+5del
|
rs1554920833
|
|
NM_000218.3(KCNQ1):c.1733-1G>C
|
rs878854348
|
|
NM_000218.3(KCNQ1):c.1733-2A>G
|
rs2133992122
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)
|
rs199473483
|
|
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer)
|
rs765169367
|
|
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)
|
rs2133992401
|
|
NM_000218.3(KCNQ1):c.1795-2A>G
|
rs867564993
|
|
NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter)
|
rs794728540
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs)
|
rs2134097007
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs)
|
rs397508105
|
|
NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)
|
rs199473441
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.200del (p.Pro67fs)
|
rs1060500623
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter)
|
rs2133560140
|
|
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)
|
rs199472679
|
|
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)
|
rs120074191
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs)
|
|
|
NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter)
|
rs2133560305
|
|
NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs)
|
rs2133560315
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)
|
rs1554958132
|
|
NM_000218.3(KCNQ1):c.385del (p.Val129fs)
|
rs2133560394
|
|
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
|
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)
|
rs199472687
|
|
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)
|
rs199473451
|
|
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)
|
rs878854347
|
|
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)
|
rs397508110
|
|
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs)
|
rs1064795333
|
|
NM_000218.3(KCNQ1):c.477+1G>C
|
|
|
NM_000218.3(KCNQ1):c.477+2T>C
|
rs2133650175
|
|
NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs)
|
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp)
|
rs397508113
|
|
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)
|
rs179489
|
|
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)
|
rs397508114
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)
|
rs1589884185
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs)
|
rs397508115
|
|
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)
|
rs199473397
|
|
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter)
|
rs794728547
|
|
NM_000218.3(KCNQ1):c.554_575del (p.Val185fs)
|
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.562del (p.Trp188fs)
|
rs397508116
|
|
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)
|
rs530612385
|
|
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg)
|
rs104894252
|
|
NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)
|
rs397508120
|
|
NM_000218.3(KCNQ1):c.587dup (p.Pro197fs)
|
|
|
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala)
|
rs199472701
|
|
NM_000218.3(KCNQ1):c.603_604+9del
|
rs794728580
|
|
NM_000218.3(KCNQ1):c.604+2T>C
|
rs1848322089
|
|
NM_000218.3(KCNQ1):c.605-2A>G
|
rs2133728692
|
|
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)
|
rs199472823
|
|
NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)
|
rs199472705
|
|
NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs)
|
|
|
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter)
|
rs775479779
|
|
NM_000218.3(KCNQ1):c.666del (p.Phe222fs)
|
|
|
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)
|
rs199473457
|
|
NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs)
|
rs1589957697
|
|
NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter)
|
rs2133730365
|
|
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)
|
rs199472710
|
|
NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer)
|
rs1589957719
|
|
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)
|
rs794728512
|
|
NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del)
|
|
|
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro)
|
rs120074196
|
|
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)
|
rs1554893091
|
|
NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter)
|
rs1060500628
|
|
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)
|
rs1554893092
|
|
NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs)
|
rs1564820786
|
|
NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter)
|
rs1848344878
|
|
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs)
|
rs1221462654
|
|
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)
|
rs1060500626
|
|
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)
|
rs794728513
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs)
|
rs2133730716
|
|
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)
|
rs2133730742
|
|
NM_000218.3(KCNQ1):c.773A>C (p.His258Pro)
|
rs199472718
|
|
NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly)
|
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter)
|
rs1848346228
|
|
NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu)
|
rs1060500621
|
|
NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)
|
rs199472721
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.788del (p.Ile263fs)
|
|
|
NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs)
|
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser)
|
rs199472725
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del)
|
rs1848360153
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)
|
rs397508127
|
|
NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter)
|
rs1554893228
|
|
NM_000218.3(KCNQ1):c.837dup (p.Val280fs)
|
rs2133732704
|
|
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)
|
rs1064796353
|
|
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)
|
rs397508129
|
|
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)
|
rs1001293702
|
|
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)
|
rs193922365
|
|
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg)
|
rs199473466
|
|
NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg)
|
|
|
NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs)
|
rs2133733054
|
|
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)
|
rs120074181
|
|
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg)
|
rs120074181
|
|
NM_000218.3(KCNQ1):c.919del (p.Val307fs)
|
rs2133733071
|
|
NM_000218.3(KCNQ1):c.921+1G>A
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.922-1G>C
|
rs387906290
|
|
NM_000218.3(KCNQ1):c.922-2A>G
|
rs397508133
|
|
NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile)
|
rs199472743
|
|
NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del)
|
rs1564824264
|
|
NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs)
|
rs2133750610
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)
|
rs199472751
|
|
NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)
|
rs1554958043
|
|
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser)
|
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)
|
rs199473470
|
|
NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter)
|
rs794728517
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)
|
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|