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_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
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_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000218.3(KCNQ1):c.1239del (p.Lys414fs)
|
rs778786253
|
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_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
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.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.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
|
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
|
rs74315446
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
|
rs794728403
|
0.00001
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)
|
rs199473378
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_033337.3(CAV3):c.6_7del (p.Met2fs)
|
rs1060502318
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NC_000003.12:g.(?_8733867)_(8745877_?)del
|
|
|
NC_000005.10:g.(?_173232273)_(173245300_?)del
|
|
|
NC_000005.10:g.(?_173232549)_(173245300_?)del
|
|
|
NC_000005.9:g.(?_172089144)_(172774583_?)del
|
|
|
NC_000005.9:g.(?_172657631)_(172661899_?)del
|
|
|
NC_000005.9:g.(?_172659748)_(172666091_?)del
|
|
|
NC_000007.13:g.(?_150066801)_(150759750_?)del
|
|
|
NC_000007.13:g.(?_150642433)_(151573725_?)del
|
|
|
NC_000007.13:g.(?_150642443)_(150645641_?)del
|
|
|
NC_000007.13:g.(?_150642443)_(151385353_?)del
|
|
|
NC_000007.13:g.(?_150642447)_(150656830_?)del
|
|
|
NC_000007.13:g.(?_150642453)_(150649961_?)del
|
|
|
NC_000007.13:g.(?_150642453)_(150675001_?)del
|
|
|
NC_000007.13:g.(?_150644406)_(150644976_?)del
|
|
|
NC_000007.13:g.(?_150653066)_(150655041_?)del
|
|
|
NC_000007.13:g.(?_150654359)_(150657201_?)del
|
|
|
NC_000007.13:g.(?_150654369)_(150656834_?)del
|
|
|
NC_000007.14:g.(?_150944956)_(150959736_?)del
|
|
|
NC_000007.14:g.(?_150944956)_(150978314_?)del
|
|
|
NC_000007.14:g.(?_150955988)_(150958464_?)del
|
|
|
NC_000007.14:g.(?_150957281)_(150977923_?)del
|
|
|
NC_000007.14:g.(?_150959552)_(150959756_?)del
|
|
|
NC_000007.14:g.(?_150959562)_(150959746_?)del
|
|
|
NC_000007.14:g.(?_150974691)_(150977933_?)del
|
|
|
NC_000008.10:g.(?_11565822)_(11566457_?)del
|
|
|
NC_000008.11:g.(?_11703278)_(11758495_?)del
|
|
|
NC_000008.11:g.(?_11703278)_(11759996_?)del
|
|
|
NC_000010.10:g.(?_72183370)_(72201347_?)del
|
|
|
NC_000011.10:g.(?_2527908)_(2528038_?)del
|
|
|
NC_000011.10:g.(?_2527918)_(2848935_?)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_000011.9:g.(?_2466329)_(2466734_?)del
|
|
|
NC_000011.9:g.(?_2466329)_(2869233_?)del
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)del
|
|
|
NC_000011.9:g.(?_2591848)_(2592643_?)del
|
|
|
NC_000011.9:g.(?_2591848)_(2683321_?)del
|
|
|
NC_000011.9:g.(?_2604665)_(2610084_?)del
|
|
|
NC_000011.9:g.(?_2606422)_(2608942_?)del
|
|
|
NC_000011.9:g.(?_2683171)_(2683331_?)del
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)del
|
|
|
NC_000011.9:g.(?_2797170)_(2798282_?)del
|
|
|
NC_000011.9:g.(?_2799186)_(2799287_?)del
|
|
|
NC_000012.11:g.(?_116418535)_(116420428_?)del
|
|
|
NC_000012.11:g.(?_116534454)_(116549337_?)del
|
|
|
NC_000012.12:g.(?_115961246)_(116096772_?)del
|
|
|
NC_000018.10:g.(?_22168362)_(22172289_?)del
|
|
|
NC_000021.8:g.(?_35821543)_(35821932_?)del
|
|
|
NC_000023.10:g.(?_135067662)_(136652229_?)del
|
|
|
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.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.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.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.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.1233del (p.Lys411fs)
|
rs1848613641
|
|
NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000218.3(KCNQ1):c.1251+1G>A
|
rs1589968661
|
|
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs)
|
rs1554895166
|
|
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.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.1394-1G>C
|
rs775537394
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
|
NM_000218.3(KCNQ1):c.1394-2A>G
|
rs2133855926
|
|
NM_000218.3(KCNQ1):c.1446del (p.Asn483fs)
|
rs794728558
|
|
NM_000218.3(KCNQ1):c.1476del (p.Glu494fs)
|
|
|
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
|
rs397508090
|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs)
|
|
|
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.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.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.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
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.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.1710del (p.Ser571fs)
|
rs397508099
|
|
NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter)
|
rs2133990821
|
|
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.1771C>T (p.Arg591Cys)
|
rs199473483
|
|
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)
|
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.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.302T>A (p.Leu101Ter)
|
rs2133560140
|
|
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)
|
rs199472679
|
|
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.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.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.524_534del (p.Leu175fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter)
|
rs794728547
|
|
NM_000218.3(KCNQ1):c.554_575del (p.Val185fs)
|
|
|
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.605-2A>G
|
rs2133728692
|
|
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.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.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.730C>T (p.Gln244Ter)
|
rs1554893091
|
|
NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter)
|
rs1060500628
|
|
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.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.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.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.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.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.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
|
|
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
|
|
|
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)
|
rs1131691762
|
|
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)
|
rs199473354
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)
|
rs2123460074
|
|
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)
|
rs1555843953
|
|
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)
|
rs1555843898
|
|
NM_000219.6(KCNE1):c.230del (p.Pro77fs)
|
rs2123457833
|
|
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)
|
rs1244688796
|
|
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del)
|
rs794728438
|
|
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)
|
rs863224478
|
|
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)
|
rs1801410644
|
|
NM_000238.4(KCNH2):c.100del (p.Ala34fs)
|
rs794728506
|
|
NM_000238.4(KCNH2):c.1027del (p.Leu343fs)
|
rs1801409660
|
|
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)
|
rs794728364
|
|
NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs)
|
rs1801406108
|
|
NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs)
|
rs1554427317
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1129-1G>A
|
rs794728478
|
|
NM_000238.4(KCNH2):c.1129-2A>G
|
rs794728365
|
|
NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs)
|
rs1563161565
|
|
NM_000238.4(KCNH2):c.1181del (p.Arg394fs)
|
|
|
NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter)
|
rs794728366
|
|
NM_000238.4(KCNH2):c.1197del (p.Ile400fs)
|
rs1801232040
|
|
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)
|
|
|
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)
|
rs199472895
|
|
NM_000238.4(KCNH2):c.1285del (p.Ala429fs)
|
rs794728498
|
|
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)
|
rs199472836
|
|
NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs)
|
rs2116971722
|
|
NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs)
|
|
|
NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs)
|
|
|
NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter)
|
rs201268831
|
|
NM_000238.4(KCNH2):c.1335dup (p.Gly446fs)
|
rs1554426219
|
|
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)
|
rs1563160541
|
|
NM_000238.4(KCNH2):c.1379del (p.Asp460fs)
|
rs1584856544
|
|
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs)
|
rs2116969765
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)
|
rs1584883377
|
|
NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter)
|
rs878853771
|
|
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)
|
rs199472912
|
|
NM_000238.4(KCNH2):c.1513del (p.Ala505fs)
|
rs1064793832
|
|
NM_000238.4(KCNH2):c.154del (p.Cys52fs)
|
rs794728508
|
|
NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter)
|
rs754921704
|
|
NM_000238.4(KCNH2):c.1578del (p.Ala527fs)
|
rs1801183828
|
|
NM_000238.4(KCNH2):c.1580del (p.Ala527fs)
|
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.1624del (p.Tyr542fs)
|
|
|
NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter)
|
|
|
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs)
|
rs2116963916
|
|
NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)
|
rs199472918
|
|
NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs)
|
|
|
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter)
|
rs1801175648
|
|
NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter)
|
rs199473517
|
|
NM_000238.4(KCNH2):c.1695del (p.Cys566fs)
|
rs1060500661
|
|
NM_000238.4(KCNH2):c.1701del (p.Trp568fs)
|
rs794728440
|
|
NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter)
|
|
|
NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs)
|
rs2116962569
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1720_1945+102del
|
|
|
NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter)
|
|
|
NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter)
|
rs794728483
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs)
|
rs1801170310
|
|
NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys)
|
rs199473430
|
|
NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs)
|
|
|
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys)
|
rs28928904
|
|
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)
|
rs28928904
|
|
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)
|
rs199472934
|
|
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)
|
rs199472936
|
|
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)
|
rs199473522
|
|
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn)
|
rs199472941
|
|
NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del)
|
rs2116960605
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)
|
rs199472947
|
|
NM_000238.4(KCNH2):c.1877del (p.Gly626fs)
|
|
|
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu)
|
rs199472954
|
|
NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu)
|
rs199473039
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla)
|
rs1563156461
|
|
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys)
|
rs199472968
|
|
NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del)
|
|
|
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)
|
rs199472971
|
|
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)
|
rs199472971
|
|
NM_000238.4(KCNH2):c.1945+6T>C
|
rs794728380
|
|
NM_000238.4(KCNH2):c.1946-1G>C
|
rs794728375
|
|
NM_000238.4(KCNH2):c.1946-2A>C
|
rs794728488
|
|
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
|
|
|
NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter)
|
rs1137617
|
|
NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer)
|
|
|
NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs)
|
rs2117062966
|
|
NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del)
|
rs1801134712
|
|
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)
|
rs1801136288
|
|
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)
|
rs199472978
|
|
NM_000238.4(KCNH2):c.1983del (p.Ile662fs)
|
rs1584852351
|
|
NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter)
|
rs1801935667
|
|
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter)
|
rs1554425527
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)
|
|
|
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)
|
rs794728381
|
|
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter)
|
rs1554425486
|
|
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)
|
rs199472983
|
|
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)
|
rs1064794793
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.2104del (p.Gln702fs)
|
|
|
NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter)
|
rs2116954443
|
|
NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter)
|
rs2116954409
|
|
NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs)
|
rs2116954362
|
|
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)
|
rs886039183
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.2156dup (p.Phe720fs)
|
|
|
NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer)
|
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs)
|
|
|
NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del)
|
rs1554425226
|
|
NM_000238.4(KCNH2):c.220_233del (p.Thr74fs)
|
rs2117062748
|
|
NM_000238.4(KCNH2):c.2218dup (p.Cys740fs)
|
rs1554425284
|
|
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)
|
rs1389503709
|
|
NM_000238.4(KCNH2):c.221_251del (p.Thr74fs)
|
rs1554430908
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.2257del (p.Ala753fs)
|
rs1584850710
|
|
NM_000238.4(KCNH2):c.2285_2286del (p.His762fs)
|
rs1801088980
|
|
NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs)
|
|
|
NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs)
|
|
|
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)
|
rs199472995
|
|
NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs)
|
rs1584883087
|
|
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs)
|
rs1060500662
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter)
|
rs1801032151
|
|
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs)
|
rs1554424849
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.2470del (p.Ala824fs)
|
rs1064793434
|
|
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)
|
rs199473005
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs)
|
|
|
NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer)
|
rs2116940397
|
|
NM_000238.4(KCNH2):c.2555del (p.Phe852fs)
|
rs2116940243
|
|
NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter)
|
rs2116940231
|
|
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs)
|
rs1584847173
|
|
NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter)
|
rs1554424688
|
|
NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs)
|
rs1801008727
|
|
NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs)
|
|
|
NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs)
|
rs1801007403
|
|
NM_000238.4(KCNH2):c.2657dup (p.Arg887fs)
|
rs1554424671
|
|
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
|
rs1131692183
|
|
NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs)
|
rs2116937619
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs)
|
rs2116937449
|
|
NM_000238.4(KCNH2):c.2684del (p.Thr895fs)
|
rs2116937500
|
|
NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)
|
|
|
NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs)
|
rs1584846819
|
|
NM_000238.4(KCNH2):c.2698dup (p.Glu900fs)
|
|
|
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)
|
rs794728449
|
|
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
|
|
|
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2743del (p.Ala915fs)
|
rs2116933842
|
|
NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs)
|
|
|
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)
|
rs1584845263
|
|
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
|
|
|
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs)
|
rs1554424390
|
|
NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs)
|
rs1800970116
|
|
NM_000238.4(KCNH2):c.2775del (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2777del (p.Pro926fs)
|
rs794728456
|
|
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter)
|
rs794728399
|
|
NM_000238.4(KCNH2):c.2785del (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs)
|
|
|
NM_000238.4(KCNH2):c.2857del (p.Leu953fs)
|
rs794728503
|
|
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)
|
rs794728462
|
|
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
|
|
|
NM_000238.4(KCNH2):c.2900dup (p.Pro968fs)
|
rs786204101
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter)
|
rs761585108
|
|
NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs)
|
|
|
NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs)
|
rs2116931753
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
NM_000238.4(KCNH2):c.2960del (p.Leu987fs)
|
rs1800955789
|
|
NM_000238.4(KCNH2):c.2966-2_2967dup
|
rs794728464
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)
|
rs121912509
|
|
NM_000238.4(KCNH2):c.3007del (p.Asp1003fs)
|
rs1800946921
|
|
NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs)
|
rs1800946921
|
|
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs)
|
rs794728504
|
|
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
|
|
|
NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)
|
rs1057520558
|
|
NM_000238.4(KCNH2):c.3039del (p.Arg1014fs)
|
rs2116929916
|
|
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)
|
rs864622174
|
|
NM_000238.4(KCNH2):c.307+1del
|
rs2117062104
|
|
NM_000238.4(KCNH2):c.307_307+1delinsTT
|
rs1554430850
|
|
NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs)
|
rs2116929283
|
|
NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs)
|
rs2116928923
|
|
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)
|
rs1554424085
|
|
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)
|
rs1554424091
|
|
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)
|
rs1554424070
|
|
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs)
|
rs1554424083
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs)
|
rs1554424063
|
|
NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs)
|
|
|
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)
|
rs864622309
|
|
NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs)
|
rs1554424079
|
|
NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs)
|
rs2116928723
|
|
NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs)
|
|
|
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
NM_000238.4(KCNH2):c.3099del (p.Arg1035fs)
|
rs1057517743
|
|
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
|
|
|
NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs)
|
|
|
NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs)
|
rs1554424062
|
|
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs)
|
rs2116928626
|
|
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)
|
rs794728468
|
|
NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs)
|
rs794728468
|
|
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs)
|
rs2116928557
|
|
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs)
|
rs794728470
|
|
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs)
|
rs1800936242
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs)
|
rs1584842021
|
|
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs)
|
|
|
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)
|
rs1554423871
|
|
NM_000238.4(KCNH2):c.3194_3330+68del
|
|
|
NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)
|
rs794728416
|
|
NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)
|
rs1584841841
|
|
NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs)
|
|
|
NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs)
|
rs794728473
|
|
NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs)
|
rs1064795855
|
|
NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs)
|
|
|
NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs)
|
|
|
NM_000238.4(KCNH2):c.3458dup (p.His1153fs)
|
rs2116917246
|
|
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg)
|
rs199472862
|
|
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs)
|
rs794728489
|
|
NM_000238.4(KCNH2):c.3G>A (p.Met1Ile)
|
rs2117072816
|
|
NM_000238.4(KCNH2):c.402del (p.Lys135fs)
|
rs1060500670
|
|
NM_000238.4(KCNH2):c.422dup (p.Ala142fs)
|
rs2117011733
|
|
NM_000238.4(KCNH2):c.453del (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.453dup (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter)
|
rs1554428173
|
|
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
|
|
|
NM_000238.4(KCNH2):c.464del (p.Leu155fs)
|
rs2117011246
|
|
NM_000238.4(KCNH2):c.46del (p.Asp16fs)
|
rs1584885912
|
|
NM_000238.4(KCNH2):c.470del (p.Pro157fs)
|
rs1554428170
|
|
NM_000238.4(KCNH2):c.486del (p.Phe163fs)
|
|
|
NM_000238.4(KCNH2):c.507dup (p.Leu170fs)
|
rs1801462423
|
|
NM_000238.4(KCNH2):c.512_536del (p.Leu171fs)
|
rs1554427943
|
|
NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)
|
|
|
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)
|
rs1554427931
|
|
NM_000238.4(KCNH2):c.544_556del (p.Ser182fs)
|
rs2117006599
|
|
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)
|
rs1057517742
|
|
NM_000238.4(KCNH2):c.548_560del (p.Gly183fs)
|
|
|
NM_000238.4(KCNH2):c.553_560del (p.Ala185fs)
|
|
|
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)
|
rs794728420
|
|
NM_000238.4(KCNH2):c.572del (p.Pro191fs)
|
rs794728423
|
|
NM_000238.4(KCNH2):c.659del (p.Asn220fs)
|
|
|
NM_000238.4(KCNH2):c.668_671del (p.Ala223fs)
|
|
|
NM_000238.4(KCNH2):c.669del (p.Leu225fs)
|
rs2117005326
|
|
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)
|
rs1554431441
|
|
NM_000238.4(KCNH2):c.678del (p.Ala228fs)
|
rs794728496
|
|
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)
|
rs730880116
|
|
NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter)
|
|
|
NM_000238.4(KCNH2):c.707_708del (p.Gly236fs)
|
rs1801449253
|
|
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs)
|
rs794728425
|
|
NM_000238.4(KCNH2):c.757dup (p.Ala253fs)
|
|
|
NM_000238.4(KCNH2):c.767dup (p.Asn257fs)
|
|
|
NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs)
|
|
|
NM_000238.4(KCNH2):c.774_780del (p.Asp259fs)
|
rs1801444435
|
|
NM_000238.4(KCNH2):c.805del (p.Arg269fs)
|
rs2117003707
|
|
NM_000238.4(KCNH2):c.809_821del (p.Thr270fs)
|
rs2117003430
|
|
NM_000238.4(KCNH2):c.812_813del (p.Arg271fs)
|
rs1801442718
|
|
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)
|
rs552583527
|
|
NM_000238.4(KCNH2):c.81dup (p.Lys28Ter)
|
rs794728475
|
|
NM_000238.4(KCNH2):c.826del (p.Cys276fs)
|
rs794728422
|
|
NM_000238.4(KCNH2):c.835del (p.Val279fs)
|
|
|
NM_000238.4(KCNH2):c.84del (p.Lys28fs)
|
rs1584883517
|
|
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs)
|
rs794728427
|
|
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.885del (p.Leu296fs)
|
rs794728429
|
|
NM_000238.4(KCNH2):c.893del (p.Pro298fs)
|
rs1563169382
|
|
NM_000238.4(KCNH2):c.904del (p.His302fs)
|
rs1801437299
|
|
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs)
|
rs1554427596
|
|
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs)
|
rs2116998812
|
|
NM_000238.4(KCNH2):c.978del (p.Tyr327fs)
|
|
|
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
|
|
|
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg)
|
rs786205776
|
|
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
|
rs786205748
|
|
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)
|
rs2153440081
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)
|
rs587777437
|
|
NM_000891.3(KCNJ2):c.-217+1029_422del
|
|
|
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)
|
rs1567823248
|
|
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)
|
rs786205811
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
|
|
|
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)
|
rs199473372
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)
|
rs199473654
|
|
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)
|
rs104894584
|
|
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)
|
rs199473655
|
|
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)
|
rs199473383
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)
|
rs1060500053
|
|
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)
|
rs1555603974
|
|
NM_000891.3(KCNJ2):c.721del (p.Glu241fs)
|
rs2074388917
|
|
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)
|
rs199473388
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs587782933
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn)
|
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)
|
rs730881106
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>C
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>T
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter)
|
rs368489876
|
|
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter)
|
rs2130068999
|
|
NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)
|
|
|
NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)
|
rs1453901762
|
|
NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter)
|
rs1799991762
|
|
NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter)
|
rs1799991762
|
|
NM_001308093.3(GATA4):c.655_656del (p.Val219fs)
|
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
|
NM_001308093.3(GATA4):c.854G>A (p.Arg285His)
|
rs2130313276
|
|
NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)
|
|
|
NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)
|
|
|
NM_001492.6(GDF1):c.523_586dup (p.Ala196fs)
|
rs1601143502
|
|
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_003413.3(ZIC3):c.(?_-1)_(*1_?)del
|
|
|
NM_003413.4(ZIC3):c.109_112del (p.Leu37fs)
|
|
|
NM_003413.4(ZIC3):c.1103del (p.Arg368fs)
|
rs2124185586
|
|
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter)
|
rs1569345504
|
|
NM_003413.4(ZIC3):c.463G>T (p.Glu155Ter)
|
|
|
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs)
|
rs1556029841
|
|
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs)
|
rs1931360759
|
|
NM_003413.4(ZIC3):c.535dup (p.Val179fs)
|
rs1569345723
|
|
NM_003413.4(ZIC3):c.571del (p.Glu191fs)
|
rs1602742808
|
|
NM_003413.4(ZIC3):c.727_740del (p.Met243fs)
|
|
|
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter)
|
rs1203069392
|
|
NM_003413.4(ZIC3):c.810del (p.Thr271fs)
|
rs2124184171
|
|
NM_003413.4(ZIC3):c.860_864del (p.Val287fs)
|
rs2124184204
|
|
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met)
|
rs122462165
|
|
NM_003413.4(ZIC3):c.976A>T (p.Lys326Ter)
|
|
|
NM_004387.3(NKX2-5):c.-229_*465del
|
|
|
NM_004387.3(NKX2-5):c.-229_334del
|
rs1581111034
|
|
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs)
|
rs1561621507
|
|
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs)
|
rs1761438700
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
|
|
|
NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
|
NM_004387.4(NKX2-5):c.230del (p.Pro77fs)
|
rs2113906167
|
|
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs)
|
rs1761434175
|
|
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs)
|
rs2113906022
|
|
NM_004387.4(NKX2-5):c.270del (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
|
|
|
NM_004387.4(NKX2-5):c.281del (p.Pro94fs)
|
rs2113905914
|
|
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
|
|
|
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter)
|
rs1761430125
|
|
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
|
|
|
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
|
|
|
NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
|
|
|
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs)
|
rs1561619801
|
|
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs)
|
rs2113902216
|
|
NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
|
|
|
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs)
|
rs2113902012
|
|
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs)
|
rs2113901953
|
|
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter)
|
rs397516909
|
|
NM_004387.4(NKX2-5):c.462del (p.Glu154fs)
|
rs2113901862
|
|
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter)
|
rs1456289029
|
|
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)
|
rs104893901
|
|
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro)
|
rs797045791
|
|
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)
|
rs104893900
|
|
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
|
|
|
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
|
|
|
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
|
|
|
NM_004387.4(NKX2-5):c.585del (p.Gln196fs)
|
rs2113901553
|
|
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs)
|
rs2113901504
|
|
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs)
|
rs1554093461
|
|
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
|
|
|
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
|
|
|
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
|
|
|
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
|
|
|
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
|
|
|
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter)
|
rs773922431
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter)
|
rs758539727
|
|
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
|
|
|
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs)
|
rs2113901025
|
|
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)
|
rs1566967399
|
|
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)
|
rs727504399
|
|
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)
|
rs121912675
|
|
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)
|
rs267606629
|
|
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
|
|
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter)
|
rs2143300665
|
|
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs)
|
rs2143300954
|
|
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)
|
rs1598737972
|
|
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter)
|
rs1598737976
|
|
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
|
|
|
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
|
|
|
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
|
|
|
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter)
|
rs2033057699
|
|
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
|
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)
|
rs1595102640
|
|
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.395A>T (p.Asp132Val)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)
|
rs1085307479
|
|
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)
|
rs199744595
|
|
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs)
|
rs1565997261
|
|
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
|
|
|
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
|
rs2137386388
|
|
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
|
|
|
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
|
rs2137378964
|
|
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
|
|
|
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs)
|
rs1566005476
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
|
|
|
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
|
|
|
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter)
|
rs1565995034
|
|
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
|
rs1877685759
|
|
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
|
|
|
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
|
|
|
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
|
|
|
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
|
|
|
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter)
|
rs1029377279
|
|
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
|
|
|
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
|
|
|
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
|
rs1879953298
|
|
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)
|
rs1447874899
|
|
NM_018055.5(NODAL):c.446del (p.Gly149fs)
|
rs1589152470
|
|
NM_018055.5(NODAL):c.555del (p.Thr186fs)
|
rs772802856
|
|
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)
|
rs1899172049
|
|
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)
|
rs2141169116
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.114+2T>C
|
rs116840787
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)
|
|
|
NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)
|
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)
|
rs199476324
|
|
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)
|
rs199476324
|
|
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)
|
rs1008642
|
|
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)
|
rs1008642
|
|
NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)
|
|
|