ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Invitae

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 844
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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)

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