NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys)
|
rs199472885
|
0.00008
|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val)
|
rs587777907
|
0.00002
|
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.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)
|
rs121912514
|
0.00001
|
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
|
rs794728403
|
0.00001
|
NC_000007.13:g.(?_150642443)_(150645641_?)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.(?_150955988)_(150958464_?)del
|
|
|
NC_000007.14:g.(?_150957281)_(150977923_?)del
|
|
|
NC_000007.14:g.(?_150959552)_(150959756_?)del
|
|
|
NC_000007.14:g.(?_150959562)_(150959746_?)del
|
|
|
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.1102del (p.His368fs)
|
rs1584863723
|
|
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.1139del (p.Leu380fs)
|
rs1563161538
|
|
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.1229G>A (p.Trp410Ter)
|
rs199472892
|
|
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)
|
|
|
NM_000238.4(KCNH2):c.1261del (p.Thr421fs)
|
rs1554426258
|
|
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.1397A>C (p.Asp466Ala)
|
rs1584856497
|
|
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)
|
rs121912505
|
|
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs)
|
rs2116969765
|
|
NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter)
|
rs760584131
|
|
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.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1557+2T>C
|
rs1584855956
|
|
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.1582_1603del (p.Arg528fs)
|
rs2116964263
|
|
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.1672G>C (p.Ala558Pro)
|
rs121912516
|
|
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.1714G>C (p.Gly572Arg)
|
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.1786C>G (p.Pro596Ala)
|
rs863225288
|
|
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.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1819del (p.Ile607fs)
|
rs2116960827
|
|
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.1831T>C (p.Tyr611His)
|
rs199472942
|
|
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.1848C>G (p.Tyr616Ter)
|
rs1563156868
|
|
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.1909G>T (p.Glu637Ter)
|
rs199472968
|
|
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)
|
rs199472970
|
|
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.1933A>C (p.Met645Leu)
|
rs199472974
|
|
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro)
|
rs121912511
|
|
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.1967del (p.Phe656fs)
|
rs1801136696
|
|
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.2038del (p.Val680fs)
|
rs1554425498
|
|
NM_000238.4(KCNH2):c.2044del (p.Glu682fs)
|
rs1584852174
|
|
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter)
|
rs1554425486
|
|
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)
|
rs199473665
|
|
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.2104C>T (p.Gln702Ter)
|
rs794728382
|
|
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.211G>C (p.Gly71Arg)
|
rs199473420
|
|
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.232G>A (p.Ala78Thr)
|
rs199472848
|
|
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs)
|
rs1584883087
|
|
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)
|
rs886039045
|
|
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+1G>C
|
rs794728391
|
|
NM_000238.4(KCNH2):c.2398+2T>A
|
rs1563152963
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2399-28del
|
rs2116941701
|
|
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.2456del (p.Asn819fs)
|
rs794728446
|
|
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.2582A>T (p.Asn861Ile)
|
rs121912513
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
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.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.2731_2756dup (p.Ser919fs)
|
rs2116933757
|
|
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.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
|
|
|
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.2935_2939del (p.Lys979fs)
|
rs1131692327
|
|
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.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)
|
rs121912515
|
|
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.3054del (p.Thr1019fs)
|
rs1554424138
|
|
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_3102dup (p.Arg1035fs)
|
rs1584843078
|
|
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.3202C>T (p.Gln1068Ter)
|
rs1554423863
|
|
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.3277_3278del (p.Pro1093fs)
|
|
|
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.418del (p.Ser140fs)
|
rs2117011793
|
|
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.82A>G (p.Lys28Glu)
|
rs199472829
|
|
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.916G>C (p.Gly306Arg)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs)
|
rs2116998812
|
|
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val)
|
rs1801941580
|
|
NM_000238.4(KCNH2):c.978del (p.Tyr327fs)
|
|
|
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
|
|
|