NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
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.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1252-1G>C
|
rs1848628661
|
0.00001
|
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)
|
rs574321120
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)
|
rs1337409061
|
0.00001
|
NM_000218.3(KCNQ1):c.386+16231G>A
|
rs1490391959
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
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.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)
|
rs368011737
|
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.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)
|
rs74462309
|
0.00001
|
NC_000011.10:g.(?_2587560)_(2587702_?)del
|
|
|
NC_000011.9:g.(?_2549138)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)dup
|
|
|
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)
|
rs199472758
|
|
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
|
|
|
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu)
|
rs2133750942
|
|
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
|
|
|
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1032+1_1129-1del
|
|
|
NM_000218.3(KCNQ1):c.1032+2T>C
|
rs1848538318
|
|
NM_000218.3(KCNQ1):c.1032+5G>A
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
|
rs1800171
|
|
NM_000218.3(KCNQ1):c.1033-2A>C
|
rs794728523
|
|
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)
|
rs199472764
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)
|
rs794728524
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
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.1100A>G (p.Gln367Arg)
|
rs2133754743
|
|
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)
|
rs775362401
|
|
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)
|
rs199473412
|
|
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu)
|
rs1848577150
|
|
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)
|
|
|
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
|
|
|
NM_000218.3(KCNQ1):c.1128+2T>A
|
rs2133754863
|
|
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
|
|
|
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs)
|
rs1848613169
|
|
NM_000218.3(KCNQ1):c.1252-2A>C
|
rs771458482
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs)
|
rs1848629484
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)
|
rs794728530
|
|
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)
|
rs1564886349
|
|
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)
|
rs17215500
|
|
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
|
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
|
|
|
NM_000218.3(KCNQ1):c.1591-1G>A
|
rs1590081328
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1685+2T>G
|
rs1590081467
|
|
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)
|
rs199472802
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686-9T>C
|
rs1846716158
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly)
|
rs1554920808
|
|
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.1702G>C (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1732+1G>A
|
rs1846719993
|
|
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)
|
rs794728576
|
|
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.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1794+1G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+2_1794+5del
|
rs1846743506
|
|
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)
|
rs147445322
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.248del (p.Pro83fs)
|
|
|
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)
|
rs1554958092
|
|
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
|
|
|
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
|
rs199473448
|
|
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr)
|
rs886037906
|
|
NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser)
|
rs886037906
|
|
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)
|
rs120074191
|
|
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
|
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn)
|
rs794728578
|
|
NM_000218.3(KCNQ1):c.386+1G>T
|
rs2133560406
|
|
NM_000218.3(KCNQ1):c.386+2T>G
|
|
|
NM_000218.3(KCNQ1):c.387-1G>C
|
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.425del (p.Leu142fs)
|
rs794728566
|
|
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro)
|
rs1589931156
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
|
|
|
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)
|
rs199472693
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs)
|
|
|
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.535G>C (p.Gly179Arg)
|
|
|
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)
|
rs199473661
|
|
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer)
|
rs1848319796
|
|
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)
|
rs199473442
|
|
NM_000218.3(KCNQ1):c.603_604+9del
|
rs794728580
|
|
NM_000218.3(KCNQ1):c.605-1G>A
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.605-1G>C
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.605-2A>G
|
rs2133728692
|
|
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met)
|
rs199473455
|
|
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp)
|
rs199473456
|
|
NM_000218.3(KCNQ1):c.683+1G>A
|
rs1589957233
|
|
NM_000218.3(KCNQ1):c.683+2T>G
|
rs796052166
|
|
NM_000218.3(KCNQ1):c.684-2A>C
|
rs1564820729
|
|
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe)
|
rs199956744
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)
|
rs1589957756
|
|
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)
|
rs199472713
|
|
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
|
|
|
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)
|
rs199473459
|
|
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)
|
rs2133730742
|
|
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.780+1G>A
|
rs1564820836
|
|
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)
|
rs199472722
|
|
NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln)
|
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn)
|
rs199472724
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)
|
|
|
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
|
|
|
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.826del (p.Ser276fs)
|
rs786204778
|
|
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)
|
rs199472730
|
|
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)
|
rs199473462
|
|
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
|
|
|
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro)
|
rs199472733
|
|
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro)
|
rs1060500627
|
|
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly)
|
rs199473463
|
|
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)
|
rs199472734
|
|
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)
|
rs199472738
|
|
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)
|
rs199472740
|
|
NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)
|
|
|
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
|
|
|
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
|
|
|
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)
|
rs199472745
|
|
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)
|
rs199472746
|
|
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser)
|
rs1554894445
|
|
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)
|
rs199472748
|
|
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn)
|
rs1554894448
|
|
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His)
|
rs1554894448
|
|
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.946G>T (p.Gly316Trp)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
|
|
|
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
|
|
|
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu)
|
rs199473470
|
|
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_001406838.1(KCNQ1):c.478-12807del
|
rs1848316236
|
|