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.1747C>T (p.Arg583Cys)
|
rs17221854
|
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.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)
|
rs120074183
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
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.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.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.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
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_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
|
|
|
NC_000011.10:g.2276821_2491742del
|
|
|
NC_000011.9:g.(?_2683186)_(2683314_?)del
|
|
|
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
|
|
|
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.1032+5G>A
|
rs397508071
|
|
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.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
|
|
|
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.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
|
|
|
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs)
|
rs2133758591
|
|
NM_000218.3(KCNQ1):c.1251+1G>A
|
rs1589968661
|
|
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.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.1480dup (p.Glu494fs)
|
rs878854349
|
|
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs)
|
rs1846542419
|
|
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)
|
rs199472791
|
|
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs)
|
rs1554920580
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
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.1703G>C (p.Gly568Ala)
|
rs199472806
|
|
NM_000218.3(KCNQ1):c.1733-1G>C
|
rs878854348
|
|
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.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.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])
|
rs397508107
|
|
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.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
|
|
|
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)
|
rs878854347
|
|
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.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
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.557G>A (p.Gly186Asp)
|
rs794728568
|
|
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.567dup (p.Arg190fs)
|
rs397508117
|
|
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.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.608T>C (p.Leu203Pro)
|
rs199472823
|
|
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)
|
rs199473457
|
|
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)
|
rs794728512
|
|
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)
|
rs199472712
|
|
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.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.788del (p.Ile263fs)
|
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
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.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.921+1G>A
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.922-1G>C
|
rs387906290
|
|
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.946G>A (p.Gly316Arg)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)
|
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys)
|
rs199473108
|
|
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)
|
rs1573214371
|
|
NM_001743.6(CALM2):c.287A>T (p.Asp96Val)
|
rs730882254
|
|
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
|
rs398124647
|
|
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)
|
rs398124647
|
|
NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)
|
rs2103823638
|
|
NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)
|
rs2103823612
|
|
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)
|
rs1687164164
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)
|
rs1060502608
|
|
NM_005184.4(CALM3):c.286G>C (p.Asp96His)
|
rs1060502607
|
|
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu)
|
rs35617141
|
|
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)
|
rs1599759598
|
|