NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
NM_000238.4(KCNH2):c.100del (p.Ala34fs)
|
rs794728506
|
|
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)
|
rs794728364
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
NM_000238.4(KCNH2):c.1142del (p.Gly381fs)
|
rs794728497
|
|
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)
|
rs1554426244
|
|
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)
|
rs199472900
|
|
NM_000238.4(KCNH2):c.1385dup (p.Met462fs)
|
|
|
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)
|
rs1584883377
|
|
NM_000238.4(KCNH2):c.1557+1G>A
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.1620del (p.Arg541fs)
|
rs1554425955
|
|
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter)
|
rs1554430962
|
|
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs)
|
|
|
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter)
|
rs199472926
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1742del (p.Ser581fs)
|
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
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.1826A>G (p.Asp609Gly)
|
rs199472940
|
|
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.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1888del (p.Val630fs)
|
rs1554425724
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1946-2A>C
|
rs794728488
|
|
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
|
|
|
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs)
|
|
|
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)
|
rs1064794793
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.2236del (p.Ala746fs)
|
rs1554425277
|
|
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs)
|
|
|
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)
|
rs886039045
|
|
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)
|
|
|
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.2494A>T (p.Lys832Ter)
|
rs794728393
|
|
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter)
|
|
|
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs)
|
|
|
NM_000238.4(KCNH2):c.2647del (p.Arg883fs)
|
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs)
|
rs1554424620
|
|
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
|
rs1800975855
|
|
NM_000238.4(KCNH2):c.2705del (p.Pro902fs)
|
rs1563148264
|
|
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.2734_2738dup (p.Ala915fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs)
|
|
|
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs)
|
|
|
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.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs)
|
rs2116933379
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)
|
rs794728462
|
|
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
|
|
|
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)
|
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000238.4(KCNH2):c.2927del (p.Asp976fs)
|
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
NM_000238.4(KCNH2):c.307_307+1delinsTT
|
rs1554430850
|
|
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_3094del (p.Arg1032fs)
|
|
|
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)
|
rs864622309
|
|
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)
|
rs1554423871
|
|
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)
|
rs1584841841
|
|
NM_000238.4(KCNH2):c.3330+1G>A
|
rs1368439403
|
|
NM_000238.4(KCNH2):c.397del (p.Met133fs)
|
|
|
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.462G>A (p.Trp154Ter)
|
|
|
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs)
|
|
|
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)
|
rs1057517742
|
|
NM_000238.4(KCNH2):c.557dup (p.Gly187fs)
|
|
|
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)
|
rs794728420
|
|
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)
|
rs730880116
|
|
NM_000238.4(KCNH2):c.735dup (p.Gly246fs)
|
|
|
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter)
|
rs794728360
|
|
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs)
|
rs1554427697
|
|
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs)
|
rs1554427692
|
|
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs)
|
|
|
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs)
|
rs1554427596
|
|