NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00025
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00019
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00002
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
0.00002
|
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)
|
rs1060500663
|
0.00002
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1820_1128+1821del
|
rs1064794494
|
0.00001
|
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)
|
rs199472899
|
0.00001
|
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)
|
rs199472902
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)
|
rs199472931
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)
|
rs758751607
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)
|
rs12720441
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)
|
rs794728449
|
0.00001
|
GRCh37/hg19 7q36.1(chr7:150642453-150656824)x1
|
|
|
NC_000007.13:g.(?_150644396)_(150649961_?)dup
|
|
|
NC_000007.13:g.(?_150644460)_(150650773_?)dup
|
|
|
NC_000007.14:g.150952854dup
|
rs2486051757
|
|
NM_000238.3:c.(2692+1_2693-1)_(3330+1_3331-1)del
|
|
|
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)
|
rs1801410644
|
|
NM_000238.4(KCNH2):c.1048del (p.Ala350fs)
|
rs1064793523
|
|
NM_000238.4(KCNH2):c.1093del (p.Glu365fs)
|
rs2486081047
|
|
NM_000238.4(KCNH2):c.1102del (p.His368fs)
|
rs1584863723
|
|
NM_000238.4(KCNH2):c.1128+1G>A
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1128+1G>C
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC
|
rs2116997026
|
|
NM_000238.4(KCNH2):c.1129-831_3109dup
|
|
|
NM_000238.4(KCNH2):c.1132dup (p.Leu378fs)
|
rs794728432
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer)
|
rs2486051098
|
|
NM_000238.4(KCNH2):c.119C>T (p.Ala40Val)
|
rs794728407
|
|
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg)
|
rs199473506
|
|
NM_000238.4(KCNH2):c.1219A>G (p.Lys407Glu)
|
|
|
NM_000238.4(KCNH2):c.121G>C (p.Val41Leu)
|
rs199472835
|
|
NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter)
|
|
|
NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter)
|
|
|
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)
|
rs199472893
|
|
NM_000238.4(KCNH2):c.124A>T (p.Ile42Phe)
|
rs1801940339
|
|
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)
|
rs199472894
|
|
NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp)
|
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro)
|
rs794728368
|
|
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp)
|
rs2116971776
|
|
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.131G>A (p.Cys44Tyr)
|
rs199473489
|
|
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)
|
rs1563160541
|
|
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)
|
rs794728409
|
|
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)
|
rs869025448
|
|
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
|
rs794728369
|
|
NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro)
|
rs794728369
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)
|
rs199472906
|
|
NM_000238.4(KCNH2):c.1423_1425del (p.Tyr475del)
|
rs794728437
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)
|
rs1801214475
|
|
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)
|
rs199472840
|
|
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)
|
rs199472911
|
|
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)
|
rs794728370
|
|
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)
|
rs199472912
|
|
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu)
|
rs794728372
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1558-1G>C
|
rs2116964889
|
|
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln)
|
rs199473515
|
|
NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro)
|
|
|
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)
|
rs1801182500
|
|
NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)
|
rs199472843
|
|
NM_000238.4(KCNH2):c.1610G>A (p.Arg537Gln)
|
rs794728373
|
|
NM_000238.4(KCNH2):c.161A>C (p.Tyr54Ser)
|
|
|
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
|
rs2486039696
|
|
NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter)
|
rs1554430962
|
|
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg)
|
rs2486039255
|
|
NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr)
|
rs1057517866
|
|
NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp)
|
|
|
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)
|
rs199472919
|
|
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)
|
rs199472845
|
|
NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu)
|
rs199472845
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1686C>G (p.His562Gln)
|
rs1057520477
|
|
NM_000238.4(KCNH2):c.1689G>C (p.Trp563Cys)
|
rs199473517
|
|
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)
|
rs199472924
|
|
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro)
|
rs199473518
|
|
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly)
|
rs794728482
|
|
NM_000238.4(KCNH2):c.1694C>T (p.Ala565Val)
|
rs794728482
|
|
NM_000238.4(KCNH2):c.1701del (p.Trp568fs)
|
rs794728440
|
|
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)
|
rs199472926
|
|
NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser)
|
rs1727086844
|
|
NM_000238.4(KCNH2):c.170C>T (p.Ala57Val)
|
rs794728493
|
|
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val)
|
rs199472928
|
|
NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala)
|
rs199473423
|
|
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)
|
rs199473423
|
|
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)
|
rs199473413
|
|
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His)
|
rs786205588
|
|
NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)
|
rs199472847
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)
|
rs199473426
|
|
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)
|
rs794728484
|
|
NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu)
|
rs794728484
|
|
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)
|
rs104894021
|
|
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys)
|
rs104894021
|
|
NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro)
|
|
|
NM_000238.4(KCNH2):c.176T>C (p.Val59Ala)
|
|
|
NM_000238.4(KCNH2):c.1777A>G (p.Ile593Val)
|
rs199472930
|
|
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)
|
rs199472934
|
|
NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp)
|
rs794728480
|
|
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro)
|
rs876661348
|
|
NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys)
|
|
|
NM_000238.4(KCNH2):c.1811G>T (p.Gly604Val)
|
rs199472937
|
|
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)
|
rs199472939
|
|
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)
|
rs2116960647
|
|
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)
|
rs199472942
|
|
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
|
rs794728485
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)
|
rs199472945
|
|
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe)
|
rs199472945
|
|
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)
|
rs199472946
|
|
NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del)
|
rs1554425762
|
|
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu)
|
rs796052195
|
|
NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu)
|
rs1057524595
|
|
NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly)
|
rs2116960125
|
|
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)
|
rs199472948
|
|
NM_000238.4(KCNH2):c.1865T>A (p.Leu622His)
|
rs2116960034
|
|
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)
|
rs199472950
|
|
NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu)
|
rs1563156725
|
|
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)
|
rs199472951
|
|
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser)
|
rs199472953
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)
|
rs41307295
|
|
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)
|
rs199472958
|
|
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala)
|
rs794728377
|
|
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)
|
rs199472964
|
|
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
|
rs199472965
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)
|
rs199472966
|
|
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
|
rs2486035570
|
|
NM_000238.4(KCNH2):c.1945+1G>A
|
rs794728487
|
|
NM_000238.4(KCNH2):c.1945+1G>C
|
rs794728487
|
|
NM_000238.4(KCNH2):c.1946-1G>A
|
rs794728375
|
|
NM_000238.4(KCNH2):c.1946-4_1948del
|
rs1801137678
|
|
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg)
|
rs1554425569
|
|
NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn)
|
|
|
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)
|
rs199472978
|
|
NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val)
|
rs1085307943
|
|
NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser)
|
rs1057523338
|
|
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr)
|
rs1554430943
|
|
NM_000238.4(KCNH2):c.1983del (p.Ile662fs)
|
rs1584852351
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
NM_000238.4(KCNH2):c.2013_2145+77del
|
rs2486029577
|
|
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)
|
rs199473417
|
|
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.2117_2121del (p.Ser706fs)
|
rs2486030446
|
|
NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs)
|
rs1064796584
|
|
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)
|
rs886039183
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.2146-1G>A
|
rs2116950992
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
rs2116950992
|
|
NM_000238.4(KCNH2):c.2146-2A>G
|
|
|
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA
|
rs1554425320
|
|
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)
|
rs794728411
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)
|
rs199472986
|
|
NM_000238.4(KCNH2):c.2192A>C (p.His731Pro)
|
rs794728385
|
|
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)
|
rs199473422
|
|
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)
|
rs1389503709
|
|
NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr)
|
rs794728386
|
|
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg)
|
rs1060500659
|
|
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)
|
rs199472995
|
|
NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe)
|
rs771674303
|
|
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr)
|
rs199472848
|
|
NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr)
|
rs1801085857
|
|
NM_000238.4(KCNH2):c.2351_2352inv (p.Arg784Pro)
|
|
|
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)
|
rs794728387
|
|
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)
|
rs199472997
|
|
NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met)
|
|
|
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro)
|
rs1801084514
|
|
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp)
|
rs794728389
|
|
NM_000238.4(KCNH2):c.2398+1G>T
|
rs794728391
|
|
NM_000238.4(KCNH2):c.2398+5G>A
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2398_2398+21del
|
rs2486023517
|
|
NM_000238.4(KCNH2):c.2399-108_2488del
|
rs2116940777
|
|
NM_000238.4(KCNH2):c.2399-2A>G
|
rs2486016384
|
|
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
|
rs199472999
|
|
NM_000238.4(KCNH2):c.2415del (p.Phe805fs)
|
rs1064793368
|
|
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)
|
rs199473000
|
|
NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)
|
rs1563189895
|
|
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala)
|
rs2486015845
|
|
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
|
rs1064793147
|
|
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)
|
rs199473005
|
|
NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)
|
rs199473005
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)
|
rs199473006
|
|
NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)
|
rs199473494
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
NM_000238.4(KCNH2):c.2593-1G>C
|
rs2486013081
|
|
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro)
|
rs199473495
|
|
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
|
rs1131692183
|
|
NM_000238.4(KCNH2):c.2676del (p.Arg893fs)
|
rs1801005389
|
|
NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs)
|
rs1584846827
|
|
NM_000238.4(KCNH2):c.2692+167_3153-109del
|
|
|
NM_000238.4(KCNH2):c.2692+1G>A
|
rs1801002279
|
|
NM_000238.4(KCNH2):c.2692+1del
|
rs2486011704
|
|
NM_000238.4(KCNH2):c.2692+2_2692+4del
|
rs1308270290
|
|
NM_000238.4(KCNH2):c.2692+5G>T
|
rs1057522921
|
|
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
|
rs1800975855
|
|
NM_000238.4(KCNH2):c.2717del (p.Ser906fs)
|
rs2486008594
|
|
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
|
rs2486008235
|
|
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)
|
rs1584845263
|
|
NM_000238.4(KCNH2):c.2764del (p.Arg922fs)
|
rs794728453
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.2775del (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs)
|
rs1584845045
|
|
NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter)
|
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.281T>G (p.Val94Gly)
|
rs199472852
|
|
NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs)
|
rs1064795287
|
|
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)
|
rs794728462
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs)
|
rs2116931511
|
|
NM_000238.4(KCNH2):c.2964del (p.Gly989fs)
|
|
|
NM_000238.4(KCNH2):c.2966-2_2967dup
|
rs794728464
|
|
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys)
|
rs199472854
|
|
NM_000238.4(KCNH2):c.2980G>A (p.Val994Met)
|
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)
|
rs794728402
|
|
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
|
rs2486005034
|
|
NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs)
|
rs2486004826
|
|
NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs)
|
rs1554424138
|
|
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)
|
rs864622174
|
|
NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs)
|
rs864622174
|
|
NM_000238.4(KCNH2):c.307+2T>A
|
rs796052196
|
|
NM_000238.4(KCNH2):c.307_307+1delinsTT
|
rs1554430850
|
|
NM_000238.4(KCNH2):c.308-2A>G
|
rs1057520598
|
|
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)
|
rs1554424091
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3095_3099dup (p.Pro1034fs)
|
rs794728467
|
|
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.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs)
|
rs1554424042
|
|
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro)
|
rs886039064
|
|
NM_000238.4(KCNH2):c.3152+1G>T
|
rs1057518151
|
|
NM_000238.4(KCNH2):c.3153-1G>C
|
rs2486001553
|
|
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs)
|
rs2486001403
|
|
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)
|
rs1554423871
|
|
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg)
|
rs199472859
|
|
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs)
|
rs1064795855
|
|
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs)
|
rs1452575772
|
|
NM_000238.4(KCNH2):c.331_337dup (p.Val113fs)
|
rs1554428238
|
|
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
|
rs1800857447
|
|
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs)
|
rs1554423346
|
|
NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe)
|
rs794728352
|
|
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)
|
rs764831888
|
|
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter)
|
rs2117011952
|
|
NM_000238.4(KCNH2):c.472+1G>A
|
rs794728477
|
|
NM_000238.4(KCNH2):c.473-2A>G
|
rs2117007319
|
|
NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter)
|
|
|
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs)
|
rs1554427936
|
|
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)
|
rs1554427931
|
|
NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs)
|
rs2117006178
|
|
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)
|
rs1554431441
|
|
NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys)
|
|
|
NM_000238.4(KCNH2):c.76+1G>A
|
rs2117072529
|
|
NM_000238.4(KCNH2):c.76+1dup
|
rs2117072537
|
|
NM_000238.4(KCNH2):c.76+2T>A
|
rs794728419
|
|
NM_000238.4(KCNH2):c.76_76+1del
|
rs1563193513
|
|
NM_000238.4(KCNH2):c.77-1G>A
|
rs794728406
|
|
NM_000238.4(KCNH2):c.77-1G>T
|
rs794728406
|
|
NM_000238.4(KCNH2):c.774dup (p.Asp259fs)
|
rs869025447
|
|
NM_000238.4(KCNH2):c.80G>A (p.Arg27His)
|
rs199472828
|
|
NM_000238.4(KCNH2):c.80del (p.Arg27fs)
|
rs2117063981
|
|
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)
|
rs552583527
|
|
NM_000238.4(KCNH2):c.832_916+11del
|
rs2486087544
|
|
NM_000238.4(KCNH2):c.842dup (p.Ala282fs)
|
rs730880374
|
|
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.893del (p.Pro298fs)
|
rs1563169382
|
|
NM_000238.4(KCNH2):c.910_916+11del
|
rs1563169296
|
|
NM_000238.4(KCNH2):c.916+1G>A
|
rs2486087618
|
|
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.917-1G>T
|
rs2486083513
|
|
NM_000238.4(KCNH2):c.917-2A>G
|
rs2116999316
|
|
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)
|
rs199472833
|
|
NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)
|
rs199472833
|
|
NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)
|
|
|
NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter)
|
rs199472886
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|