NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg)
|
rs863224645
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_001005242.3(PKP2):c.1557-1G>C
|
rs78897684
|
0.00003
|
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)
|
rs751288871
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_001927.4(DES):c.226del (p.Thr76fs)
|
rs1399282762
|
0.00003
|
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
|
rs539821357
|
0.00003
|
NM_004415.4(DSP):c.4855del (p.Leu1619fs)
|
rs1231490307
|
0.00003
|
NM_004415.4(DSP):c.6310del (p.Thr2104fs)
|
rs730880092
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)
|
rs145476705
|
0.00003
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)
|
rs1365923535
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter)
|
rs794729150
|
0.00002
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
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_001289808.2(CRYAB):c.34C>T (p.Arg12Cys)
|
rs375933774
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)
|
rs200117742
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.253dup (p.Asp85fs)
|
rs1247360325
|
0.00001
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)
|
rs1460246415
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)
|
rs772898391
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)
|
rs746944448
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.770del (p.Asp257fs)
|
rs2071264706
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1610del (p.Glu537fs)
|
rs762060817
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter)
|
rs1322871046
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.752del (p.Thr251fs)
|
rs886042749
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)
|
rs397515890
|
0.00001
|
NM_000256.3(MYBPC3):c.1223+1G>A
|
rs730880639
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.2012_2013insGG (p.Pro672fs)
|
rs2095886347
|
0.00001
|
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs)
|
rs774521272
|
0.00001
|
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)
|
rs1163861044
|
0.00001
|
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln)
|
rs397515964
|
0.00001
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.2865del (p.Val956fs)
|
rs2095880935
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
|
rs397516008
|
0.00001
|
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)
|
rs397516010
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)
|
rs193922383
|
0.00001
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)
|
rs397516049
|
0.00001
|
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter)
|
rs771929829
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)
|
rs727504239
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)
|
rs121913634
|
0.00001
|
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)
|
rs758891557
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)
|
rs45451303
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)
|
rs397516202
|
0.00001
|
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp)
|
rs730880793
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)
|
rs727505294
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)
|
rs397516256
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)
|
rs121913633
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)
|
rs1768838504
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000363.5(TNNI3):c.146dup (p.Lys50fs)
|
rs1162696593
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)
|
rs397516357
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000371.4(TTR):c.118G>A (p.Val40Ile)
|
rs121918093
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)
|
rs958191819
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu)
|
rs774193307
|
0.00001
|
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)
|
rs754912778
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_001005242.3(PKP2):c.1671del (p.Asp557fs)
|
rs794729129
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter)
|
rs1158333072
|
0.00001
|
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)
|
rs762753884
|
0.00001
|
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter)
|
rs763303290
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)
|
rs730880194
|
0.00001
|
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs)
|
rs1848940003
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)
|
rs776874142
|
0.00001
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)
|
rs779948923
|
0.00001
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)
|
rs751746401
|
0.00001
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)
|
rs794729265
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)
|
rs1057522256
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
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_001289808.2(CRYAB):c.2T>C (p.Met1Thr)
|
rs577253222
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)
|
rs61726467
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
|
rs1273708097
|
0.00001
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
NM_001927.4(DES):c.369del (p.Ile123fs)
|
rs747289875
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)
|
rs794728086
|
0.00001
|
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs)
|
rs773328409
|
0.00001
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_001943.5(DSG2):c.690+1G>A
|
rs750176752
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
NM_002230.4(JUP):c.343C>T (p.Arg115Ter)
|
rs782203227
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)
|
rs1453920894
|
0.00001
|
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)
|
rs770066171
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter)
|
rs863224716
|
0.00001
|
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)
|
rs902082118
|
0.00001
|
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)
|
rs1216811263
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)
|
rs778851652
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter)
|
rs1267435790
|
0.00001
|
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)
|
rs369482721
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)
|
rs773668457
|
0.00001
|
NM_004453.4(ETFDH):c.1285+1G>A
|
rs767046886
|
0.00001
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)
|
rs1174882036
|
0.00001
|
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)
|
rs187248590
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
|
rs199899494
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)
|
rs397515459
|
0.00001
|
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)
|
rs1468290898
|
0.00001
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter)
|
rs963715928
|
0.00001
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)
|
rs199476412
|
0.00001
|
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter)
|
rs200106758
|
0.00001
|
NM_144573.4(NEXN):c.1302del (p.Ile435fs)
|
rs747902604
|
0.00001
|
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter)
|
rs771262904
|
0.00001
|
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter)
|
rs533331740
|
0.00001
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
NC_000001.10:g.(?_116269603)_(116269753_?)del
|
|
|
NC_000002.11:g.(?_219135239)_(220290732_?)del
|
|
|
NC_000002.11:g.(?_220283185)_(220290712_?)del
|
|
|
NC_000002.11:g.(?_26414109)_(26415303_?)del
|
|
|
NC_000002.11:g.(?_26414109)_(26462021_?)del
|
|
|
NC_000002.11:g.(?_26414119)_(26462031_?)del
|
|
|
NC_000002.11:g.(?_26416426)_(26418121_?)del
|
|
|
NC_000002.11:g.(?_26416436)_(26418111_?)del
|
|
|
NC_000002.11:g.(?_26467378)_(26467464_?)del
|
|
|
NC_000002.12:g.(?_219418453)_(219426000_?)del
|
|
|
NC_000002.12:g.(?_26236845)_(26239153_?)del
|
|
|
NC_000002.12:g.26201318_26201321del
|
|
|
NC_000004.11:g.(?_159593534)_(159629689_?)del
|
|
|
NC_000004.11:g.(?_159606119)_(159616730_?)del
|
|
|
NC_000004.11:g.(?_159611480)_(159620302_?)del
|
|
|
NC_000004.11:g.(?_159616098)_(159618829_?)del
|
|
|
NC_000004.11:g.(?_52890123)_(52904425_?)del
|
|
|
NC_000004.11:g.(?_52894124)_(52896039_?)del
|
|
|
NC_000004.11:g.(?_52899577)_(52899826_?)del
|
|
|
NC_000004.12:g.(?_52023947)_(52038269_?)del
|
|
|
NC_000004.12:g.(?_52033421)_(52033650_?)del
|
|
|
NC_000004.12:g.(?_52038207)_(52038279_?)del
|
|
|
NC_000005.10:g.(?_156329567)_(156344687_?)del
|
|
|
NC_000005.10:g.(?_156757561)_(156759410_?)del
|
|
|
NC_000005.10:g.(?_177135084)_(177295479_?)del
|
|
|
NC_000005.10:g.(?_177135094)_(177295469_?)del
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
NC_000005.9:g.(?_155338082)_(156186411_?)del
|
|
|
NC_000005.9:g.(?_155756587)_(156074566_?)del
|
|
|
NC_000005.9:g.(?_155756587)_(156184735_?)del
|
|
|
NC_000005.9:g.(?_155935601)_(156074556_?)del
|
|
|
NC_000005.9:g.(?_156074454)_(156074566_?)del
|
|
|
NC_000005.9:g.(?_156184572)_(156184735_?)del
|
|
|
NC_000006.11:g.(?_118880085)_(118880243_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)del
|
|
|
NC_000006.11:g.(?_133782232)_(133783922_?)del
|
|
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
NC_000006.11:g.(?_7542149)_(7542338_?)del
|
|
|
NC_000006.11:g.(?_7542149)_(7586111_?)del
|
|
|
NC_000006.11:g.(?_7565582)_(7569583_?)del
|
|
|
NC_000006.11:g.(?_7567563)_(7584301_?)del
|
|
|
NC_000006.11:g.(?_7582855)_(7586131_?)del
|
|
|
NC_000006.11:g.(?_7582865)_(7586121_?)del
|
|
|
NC_000006.11:g.(?_7583161)_(7587903_?)del
|
|
|
NC_000006.12:g.(?_118548061)_(118559090_?)del
|
|
|
NC_000006.12:g.(?_133525015)_(133528805_?)del
|
|
|
NC_000006.12:g.(?_152122416)_(153426916_?)del
|
|
|
NC_000006.12:g.(?_7541896)_(7585898_?)del
|
|
|
NC_000006.12:g.(?_7541906)_(7585888_?)del
|
|
|
NC_000006.12:g.(?_7570417)_(7585898_?)del
|
|
|
NC_000006.12:g.(?_7570427)_(7585888_?)del
|
|
|
NC_000006.12:g.123503896TCTGT[1]
|
|
|
NC_000007.13:g.(?_128469483)_(128500328_?)del
|
|
|
NC_000007.13:g.(?_128470682)_(128498587_?)del
|
|
|
NC_000007.13:g.(?_128470692)_(128498577_?)del
|
|
|
NC_000007.13:g.(?_128475360)_(128478877_?)del
|
|
|
NC_000007.13:g.(?_128480619)_(128486474_?)del
|
|
|
NC_000007.13:g.(?_128487731)_(128488142_?)del
|
|
|
NC_000007.14:g.(?_128830618)_(128858543_?)del
|
|
|
NC_000007.14:g.(?_128848551)_(128848992_?)del
|
|
|
NC_000007.14:g.128837160del
|
|
|
NC_000007.14:g.128854417_128854448del
|
|
|
NC_000009.12:g.(?_124481358)_(124505411_?)del
|
|
|
NC_000010.10:g.(?_121411178)_(121437012_?)del
|
|
|
NC_000010.10:g.(?_121411188)_(121411387_?)del
|
|
|
NC_000010.10:g.(?_121435956)_(121436794_?)del
|
|
|
NC_000010.10:g.(?_69918233)_(69926433_?)del
|
|
|
NC_000010.10:g.(?_69961566)_(69961771_?)del
|
|
|
NC_000010.11:g.(?_119676454)_(119677500_?)del
|
|
|
NC_000011.10:g.(?_2883979)_(2885755_?)del
|
|
|
NC_000011.10:g.(?_47331845)_(47336011_?)del
|
|
|
NC_000011.10:g.(?_47331851)_(47348561_?)del
|
|
|
NC_000011.10:g.(?_47331851)_(47352667_?)del
|
|
|
NC_000011.10:g.(?_47332546)_(47334030_?)del
|
|
|
NC_000011.10:g.(?_47335857)_(47338759_?)del
|
|
|
NC_000011.10:g.(?_47347406)_(47352667_?)del
|
|
|
NC_000011.10:g.(?_47348566)_(47351515_?)del
|
|
|
NC_000011.10:g.(?_47349774)_(47351505_?)del
|
|
|
NC_000011.10:g.47335210del
|
rs2142853045
|
|
NC_000011.10:g.47336007_47336016del
|
|
|
NC_000011.10:g.47336012del
|
|
|
NC_000011.10:g.47350113del
|
rs771005018
|
|
NC_000011.9:g.(?_111779478)_(111782458_?)del
|
|
|
NC_000011.9:g.(?_111779488)_(111780026_?)del
|
|
|
NC_000011.9:g.(?_111779488)_(111782448_?)del
|
|
|
NC_000011.9:g.(?_2905228)_(2906725_?)del
|
|
|
NC_000011.9:g.(?_46880514)_(47470726_?)del
|
|
|
NC_000011.9:g.(?_47353422)_(47356780_?)del
|
|
|
NC_000011.9:g.(?_47353958)_(47355505_?)del
|
|
|
NC_000011.9:g.(?_47353958)_47355505del
|
|
|
NC_000011.9:g.(?_47357408)_(47360250_?)del
|
|
|
NC_000011.9:g.(?_47357408)_(47374198_?)del
|
|
|
NC_000011.9:g.(?_47357416)_(47360310_?)del
|
|
|
NC_000011.9:g.(?_47360865)_(47369466_?)del
|
|
|
NC_000011.9:g.(?_47363401)_47367757del
|
|
|
NC_000011.9:g.(?_47364109)_(47374198_?)del
|
|
|
NC_000011.9:g.(?_47364119)_(47374208_?)del
|
|
|
NC_000011.9:g.(?_47371305)_(47374198_?)del
|
|
|
NC_000012.11:g.(?_32945338)_(32977116_?)del
|
|
|
NC_000012.11:g.(?_32945348)_(32949242_?)del
|
|
|
NC_000012.11:g.(?_32945358)_(32949252_?)del
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|
|
NC_000012.11:g.(?_32949023)_(32955510_?)del
|
|
|
NC_000012.11:g.(?_32949033)_(32955500_?)del
|
|
|
NC_000012.11:g.(?_33003680)_(33003927_?)del
|
|
|
NC_000012.11:g.(?_33003694)_(33003913_?)del
|
|
|
NC_000012.11:g.(?_33021841)_(33022016_?)del
|
|
|
NC_000012.11:g.(?_33021841)_(33031986_?)del
|
|
|
NC_000012.11:g.(?_33021851)_(33031976_?)del
|
|
|
NC_000012.11:g.(?_33030760)_(33031986_?)del
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|
|
NC_000012.11:g.(?_33030760)_(33049665_?)del
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|
NC_000012.12:g.(?_110910819)_(110911175_?)del
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|
|
NC_000012.12:g.(?_32792404)_(32896751_?)del
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|
|
NC_000012.12:g.(?_32792414)_(32896741_?)del
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|
NC_000012.12:g.(?_32802383)_(32802576_?)del
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|
NC_000012.12:g.(?_32824025)_(32824182_?)del
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|
NC_000012.12:g.(?_32824035)_(32824172_?)del
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|
NC_000012.12:g.(?_32850756)_(32850983_?)del
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|
NC_000012.12:g.(?_32868917)_(32869072_?)del
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|
NC_000012.12:g.(?_32877836)_(32879042_?)del
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|
NC_000012.12:g.(?_32877836)_(32896741_?)del
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|
NC_000012.12:g.(?_32877846)_(32879032_?)del
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|
NC_000013.10:g.(?_23755215)_(23853627_?)del
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|
|
NC_000013.10:g.(?_23808730)_(23808871_?)del
|
|
|
NC_000013.10:g.(?_23824749)_(23853637_?)del
|
|
|
NC_000013.10:g.(?_23898487)_(24463459_?)del
|
|
|
NC_000013.10:g.(?_23898497)_(23898690_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23203899_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23411249_?)del
|
|
|
NC_000013.11:g.(?_23093196)_(23411259_?)del
|
|
|
NC_000013.11:g.(?_23203675)_(23279498_?)del
|
|
|
NC_000013.11:g.(?_23203685)_(23203899_?)del
|
|
|
NC_000013.11:g.(?_23320627)_(23320770_?)del
|
|
|
NC_000015.10:g.(?_38253166)_(39021201_?)del
|
|
|
NC_000015.10:g.(?_38253180)_(38351670_?)del
|
|
|
NC_000015.10:g.(?_38253186)_(38253227_?)del
|
|
|
NC_000015.10:g.(?_38299363)_(38324819_?)del
|
|
|
NC_000015.10:g.(?_38299373)_(38357249_?)del
|
|
|
NC_000015.10:g.(?_76311340)_(76311398_?)del
|
|
|
NC_000015.9:g.(?_38545367)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38643865_?)del
|
|
|
NC_000015.9:g.(?_38591568)_(38643870_?)del
|
|
|
NC_000015.9:g.(?_38614422)_(38617030_?)del
|
|
|
NC_000015.9:g.(?_76508890)_(76603739_?)del
|
|
|
NC_000015.9:g.(?_76580177)_(76585051_?)del
|
|
|
NC_000017.10:g.(?_48243138)_(48245027_?)del
|
|
|
NC_000017.10:g.(?_48243138)_48245027del
|
|
|
NC_000017.10:g.(?_48243336)_(48246625_?)del
|
|
|
NC_000017.10:g.(?_48243336)_(48253303_?)del
|
|
|
NC_000017.10:g.(?_6589506)_(7128436_?)del
|
|
|
NC_000017.10:g.(?_7123304)_(8193254_?)del
|
|
|
NC_000017.10:g.(?_7124120)_(7128078_?)del
|
|
|
NC_000017.10:g.(?_7126433)_(7126544_?)del
|
|
|
NC_000017.10:g.(?_78082486)_(78087175_?)del
|
|
|
NC_000017.10:g.(?_78084516)_(78084834_?)del
|
|
|
NC_000017.10:g.(?_78085283)_(78092476_?)del
|
|
|
NC_000017.10:g.(?_78090757)_(78092614_?)del
|
|
|
NC_000017.10:g.(?_78091652)_78092189del
|
|
|
NC_000017.10:g.(?_78091972)_(78092176_?)del
|
|
|
NC_000017.11:g.(?_41771637)_(41771864_?)del
|
|
|
NC_000017.11:g.(?_80104542)_(80105914_?)del
|
|
|
NC_000017.11:g.(?_80108677)_(80113386_?)del
|
|
|
NC_000017.11:g.(?_80109935)_(80113376_?)del
|
|
|
NC_000017.11:g.(?_80118183)_(80118367_?)del
|
|
|
NC_000017.11:g.(?_80118193)_(80118357_?)del
|
|
|
NC_000018.10:g.(?_31070706)_(31070870_?)del
|
|
|
NC_000018.10:g.(?_31092081)_(31101991_?)del
|
|
|
NC_000018.9:g.(?_28654629)_(28673626_?)dup
|
|
|
NC_000018.9:g.(?_28673522)_(28673606_?)del
|
|
|
NC_000018.9:g.(?_28681846)_(28681934_?)del
|
|
|
NC_000018.9:g.(?_29115213)_(29126706_?)del
|
|
|
NC_000018.9:g.(?_29115223)_(29118951_?)del
|
|
|
NC_000019.9:g.(?_51727962)_(51890697_?)del
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152990712)_(153650075_?)del
|
|
|
NC_000023.10:g.(?_153607393)_(153608624_?)del
|
|
|
NC_000023.10:g.(?_153607825)_(153609577_?)del
|
|
|
NC_000023.10:g.(?_153607835)_(153609567_?)del
|
|
|
NC_000023.10:g.(?_153609093)_(153609182_?)del
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.3(ACADVL):c.625del
|
rs2071251239
|
|
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)
|
rs1567565643
|
|
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)
|
rs2142960989
|
|
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)
|
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)
|
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
|
rs1443151475
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs)
|
rs2142982040
|
|
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)
|
rs1567566228
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)
|
rs781467053
|
|
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs)
|
rs2142982293
|
|
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)
|
rs1057517281
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs)
|
rs2142982389
|
|
NM_000018.4(ACADVL):c.1155del (p.Met386fs)
|
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1182+1G>T
|
|
|
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)
|
rs2071337130
|
|
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)
|
rs1597533847
|
|
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
|
|
|
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
|
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)
|
rs2142984544
|
|
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)
|
rs1555528737
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1269+1del
|
rs2071340733
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
NM_000018.4(ACADVL):c.128del (p.Gly43fs)
|
rs2071123075
|
|
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
|
|
|
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
|
rs1597534677
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala)
|
rs533055438
|
|
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1332+2T>C
|
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)
|
|
|
NM_000018.4(ACADVL):c.1389del (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)
|
rs2071356603
|
|
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)
|
|
|
NM_000018.4(ACADVL):c.1455dup (p.Gly486fs)
|
|
|
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)
|
rs1567560601
|
|
NM_000018.4(ACADVL):c.1475dup (p.Asn493fs)
|
|
|
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)
|
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)
|
rs1214222702
|
|
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)
|
|
|
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)
|
rs2142987900
|
|
NM_000018.4(ACADVL):c.1605+1G>A
|
|
|
NM_000018.4(ACADVL):c.1605+1G>C
|
rs2142988018
|
|
NM_000018.4(ACADVL):c.1605+1G>T
|
rs2142988018
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
|
|
|
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)
|
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
NM_000018.4(ACADVL):c.1636del (p.Val546fs)
|
|
|
NM_000018.4(ACADVL):c.1640del (p.Val547fs)
|
|
|
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)
|
|
|
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)
|
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
NM_000018.4(ACADVL):c.1736del (p.Val579fs)
|
|
|
NM_000018.4(ACADVL):c.1738del (p.Val580fs)
|
|
|
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs)
|
rs2142990005
|
|
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)
|
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)
|
rs2071404265
|
|
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)
|
|
|
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)
|
|
|
NM_000018.4(ACADVL):c.1838_1841dup (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1857dup (p.Ala620fs)
|
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs)
|
rs2071413180
|
|
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)
|
rs2142964399
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.277+2T>C
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.294G>T (p.Gln98His)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)
|
rs2071168842
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.303del (p.Glu104fs)
|
rs2142967119
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
NM_000018.4(ACADVL):c.313_316del (p.Leu105fs)
|
|
|
NM_000018.4(ACADVL):c.320del (p.Glu107fs)
|
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
|
rs750653177
|
|
NM_000018.4(ACADVL):c.342+1G>C
|
rs780020193
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.388del (p.Glu130fs)
|
rs2142969054
|
|
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)
|
|
|
NM_000018.4(ACADVL):c.410del (p.Lys137fs)
|
|
|
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)
|
rs2071185757
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)
|
rs2142969655
|
|
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs)
|
rs2142969858
|
|
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)
|
rs371910495
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.483_484del (p.Arg162fs)
|
|
|
NM_000018.4(ACADVL):c.488dup (p.Leu163fs)
|
rs2142974010
|
|
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
|
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.532del (p.Leu178fs)
|
|
|
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)
|
|
|
NM_000018.4(ACADVL):c.545dup (p.Ser183fs)
|
|
|
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
|
rs1597525249
|
|
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)
|
rs2071231356
|
|
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)
|
rs1258134795
|
|
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
|
|
|
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)
|
|
|
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)
|
rs2071233789
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
NM_000018.4(ACADVL):c.609del (p.Lys204fs)
|
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.621_622+9del
|
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)
|
rs2142976575
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs)
|
rs2142976616
|
|
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)
|
rs1186576451
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.659_672del (p.Ser220fs)
|
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)
|
rs398123091
|
|
NM_000018.4(ACADVL):c.686_726del (p.Arg229fs)
|
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)
|
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)
|
|
|
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)
|
rs2071258420
|
|
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)
|
rs141167669
|
|
NM_000018.4(ACADVL):c.753-1G>A
|
|
|
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)
|
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.776_777insA (p.Phe259fs)
|
|
|
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
|
rs2071266269
|
|
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)
|
|
|
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
|
rs1567564499
|
|
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del)
|
rs1555528367
|
|
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.869del (p.Gly290fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.877del (p.His293fs)
|
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
NM_000018.4(ACADVL):c.904del (p.Ile302fs)
|
|
|
NM_000018.4(ACADVL):c.907_908del (p.Lys303fs)
|
|
|
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)
|
rs2071288883
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
|
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
|
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)
|
|
|
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)
|
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.105del (p.Phe36fs)
|
rs2144493323
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)
|
rs2144494148
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
|
|
|
NM_000023.4(SGCA):c.225del (p.Trp75fs)
|
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)
|
rs1598265248
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)
|
rs2144494297
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.250dup (p.His84fs)
|
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
NM_000023.4(SGCA):c.26dup (p.Leu10fs)
|
rs1904771410
|
|
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)
|
rs138945081
|
|
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)
|
rs137852621
|
|
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)
|
rs1567739735
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.364C>G (p.Leu122Val)
|
rs1567739857
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.408del (p.Glu137fs)
|
rs1905103030
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488del (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.585-2A>C
|
rs1555568965
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
|
|
|
NM_000023.4(SGCA):c.658_659del (p.Ala220fs)
|
rs1905167458
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)
|
rs2144493135
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.770del (p.Pro257fs)
|
rs886043962
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)
|
rs2144500924
|
|
NM_000023.4(SGCA):c.862del (p.Val288fs)
|
rs2144501024
|
|
NM_000023.4(SGCA):c.86dup (p.His29fs)
|
rs1904986620
|
|
NM_000023.4(SGCA):c.904del (p.Leu302fs)
|
rs2144501172
|
|
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)
|
rs760989961
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)
|
rs1017592342
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
NM_000126.4(ETFA):c.177del (p.Lys59fs)
|
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.285del (p.Ile96fs)
|
rs2039775781
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
|
|
|
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
|
|
|
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
|
|
|
NM_000126.4(ETFA):c.427dup (p.Thr143fs)
|
rs2039717357
|
|
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)
|
rs1047426224
|
|
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
|
|
|
NM_000126.4(ETFA):c.478del (p.Asp160fs)
|
rs2039705645
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
|
|
|
NM_000126.4(ETFA):c.560del (p.Lys187fs)
|
|
|
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
|
|
|
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
|
|
|
NM_000126.4(ETFA):c.624del (p.Arg209fs)
|
rs1596218695
|
|
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)
|
rs754050501
|
|
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)
|
rs757409121
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_000152.5(GAA):c.-32-385_143del
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
|
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
NM_000152.5(GAA):c.1082dup (p.Phe362fs)
|
rs2143854537
|
|
NM_000152.5(GAA):c.1091del (p.Pro364fs)
|
rs2143854659
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1192del (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1198del (p.Val400fs)
|
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
|
rs2039157751
|
|
NM_000152.5(GAA):c.1241del (p.Phe414fs)
|
|
|
NM_000152.5(GAA):c.1274del (p.Pro425fs)
|
|
|
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
|
|
|
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
|
|
|
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs)
|
rs2143858151
|
|
NM_000152.5(GAA):c.1308del (p.Arg437fs)
|
rs2143858305
|
|
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
|
|
|
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
|
rs2143865725
|
|
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
|
rs2039190879
|
|
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
|
|
|
NM_000152.5(GAA):c.1356del (p.Ser454fs)
|
rs2039191420
|
|
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
|
|
|
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
|
|
|
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
|
|
|
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)
|
rs2143866239
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs)
|
rs2143866321
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.1396del (p.Val466fs)
|
rs1273392818
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
|
|
|
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
|
rs2039195145
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437+2T>C
|
rs1598580407
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
|
|
|
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
|
rs2143871845
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
|
rs2039213824
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
|
rs1555598609
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1519dup (p.His507fs)
|
rs2039216097
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
|
rs2143874124
|
|
NM_000152.5(GAA):c.1559del (p.Asn520fs)
|
rs2143874154
|
|
NM_000152.5(GAA):c.1560del (p.Asn520fs)
|
|
|
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
|
|
|
NM_000152.5(GAA):c.1561del (p.Glu521fs)
|
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.156_157del (p.His53fs)
|
|
|
NM_000152.5(GAA):c.1575dup (p.Ile526fs)
|
rs2143874398
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)
|
rs1598582021
|
|
NM_000152.5(GAA):c.1587del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1589del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1637-2A>G
|
rs2143882034
|
|
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
|
|
|
NM_000152.5(GAA):c.1650del (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
|
|
|
NM_000152.5(GAA):c.1654del (p.Leu552fs)
|
rs2039246615
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs)
|
rs2143882664
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
|
rs2143883054
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1754+2T>A
|
|
|
NM_000152.5(GAA):c.1754+2T>C
|
|
|
NM_000152.5(GAA):c.1755-1G>A
|
rs2039261208
|
|
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
|
rs2039261436
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)
|
rs796161389
|
|
NM_000152.5(GAA):c.1846dup (p.Asp616fs)
|
rs1249187013
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1937del (p.Val646fs)
|
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
|
|
|
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
|
rs2143892473
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
|
rs2143892654
|
|
NM_000152.5(GAA):c.1987del (p.Gln663fs)
|
rs2143892615
|
|
NM_000152.5(GAA):c.199del (p.Asp67fs)
|
rs2143825870
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+1G>C
|
rs1057516928
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
|
rs2039287628
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
|
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)
|
rs150728610
|
|
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2173del (p.Arg725fs)
|
rs2039292320
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
|
rs760063214
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs)
|
rs2143920189
|
|
NM_000152.5(GAA):c.2314del (p.Trp772fs)
|
|
|
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
|
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.242del (p.Gln81fs)
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)
|
rs749584846
|
|
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs)
|
rs2143926009
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
|
|
|
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
|
|
|
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)
|
rs2143930800
|
|
NM_000152.5(GAA):c.2646+1G>A
|
rs2143931061
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2646+2T>G
|
|
|
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
|
|
|
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
|
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)
|
rs1057516189
|
|
NM_000152.5(GAA):c.2707_2709del (p.Lys903del)
|
rs121907939
|
|
NM_000152.5(GAA):c.2734del (p.Ala912fs)
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)
|
rs1432841878
|
|
NM_000152.5(GAA):c.309C>A (p.Cys103Ter)
|
rs373307393
|
|
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)
|
rs373307393
|
|
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
|
rs2039038743
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
|
rs1011631903
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)
|
rs886043112
|
|
NM_000152.5(GAA):c.456_457dup (p.Thr153fs)
|
rs2143829023
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
|
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.528_529del (p.Asn177fs)
|
rs2143829649
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.547-1G>C
|
rs2143833579
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
|
|
|
NM_000152.5(GAA):c.587del (p.Glu196fs)
|
|
|
NM_000152.5(GAA):c.639del (p.Ser214fs)
|
rs2143834462
|
|
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
|
rs201286896
|
|
NM_000152.5(GAA):c.658dup (p.Val220fs)
|
rs2143834640
|
|
NM_000152.5(GAA):c.683dup (p.Arg229fs)
|
rs2143834983
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>T
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
|
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
|
|
|
NM_000152.5(GAA):c.759del (p.Ser254fs)
|
rs2039117815
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.856del (p.Thr286fs)
|
|
|
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
NM_000152.5(GAA):c.930del (p.Phe311fs)
|
|
|
NM_000152.5(GAA):c.955+1G>A
|
rs1403691329
|
|
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
|
|
|
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
|
|
NM_000182.5(HADHA):c.1070del (p.Pro357fs)
|
rs1670051013
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
|
|
|
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter)
|
rs2147762267
|
|
NM_000182.5(HADHA):c.1209del (p.Val404fs)
|
|
|
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
|
|
|
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
|
|
|
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1319dup (p.Ala441fs)
|
rs2147759662
|
|
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
|
|
|
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs)
|
rs2147753741
|
|
NM_000182.5(HADHA):c.1523del (p.Leu508fs)
|
rs754145990
|
|
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
|
rs137852769
|
|
NM_000182.5(HADHA):c.1540del (p.Thr514fs)
|
rs1478391725
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
NM_000182.5(HADHA):c.1554del (p.Asp520fs)
|
rs2147753630
|
|
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.1620+1del
|
rs2147753555
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1654dup (p.Ala552fs)
|
rs2147753069
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000182.5(HADHA):c.1690-17_1690-2del
|
rs1669581856
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
|
|
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter)
|
rs757671025
|
|
NM_000182.5(HADHA):c.2000+1G>A
|
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
|
|
|
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
|
|
|
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter)
|
rs2147749450
|
|
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
|
|
|
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
|
|
|
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)
|
rs774114061
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
|
|
|
NM_000182.5(HADHA):c.238del (p.Trp80fs)
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.294del (p.Phe98fs)
|
rs2147784383
|
|
NM_000182.5(HADHA):c.310dup (p.Ile104fs)
|
rs1670773680
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.352_353del (p.Gln118fs)
|
rs1670695370
|
|
NM_000182.5(HADHA):c.387_388del (p.Lys129fs)
|
rs780350631
|
|
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.612dup (p.Arg205Ter)
|
rs1574623071
|
|
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
|
|
|
NM_000182.5(HADHA):c.676+1G>A
|
rs1670587668
|
|
NM_000182.5(HADHA):c.690del (p.Lys230fs)
|
rs2147769993
|
|
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)
|
rs1456890163
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
|
|
|
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
|
|
|
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
|
|
|
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
|
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)
|
rs760108586
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)
|
rs1351510337
|
|
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2137501542
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
|
|
|
NM_000231.3(SGCG):c.241_297+1169del
|
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.298-1G>A
|
rs79500874
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.361del (p.Glu121fs)
|
rs1879928532
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.524_527del (p.Phe175fs)
|
rs2137644682
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.528_534del (p.His177fs)
|
|
|
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)
|
rs1011397929
|
|
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer)
|
rs1180551378
|
|
NM_000231.3(SGCG):c.549dup (p.Val184fs)
|
rs2137644772
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs)
|
rs2137528211
|
|
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter)
|
rs1325816562
|
|
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)
|
rs376410504
|
|
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer)
|
rs2137528297
|
|
NM_000231.3(SGCG):c.699_702del (p.Met234fs)
|
rs2137528349
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs)
|
rs1883154291
|
|
NM_000231.3(SGCG):c.735del (p.Lys246fs)
|
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.775_776del (p.Gln259fs)
|
rs2137534154
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.824_827del (p.Ser275fs)
|
rs1361450354
|
|
NM_000231.3(SGCG):c.82del (p.Ile28fs)
|
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)
|
rs1196026821
|
|
NM_000231.3(SGCG):c.89del (p.Gly30fs)
|
|
|
NM_000232.5(SGCB):c.-10_13del (p.Met1fs)
|
rs2109380910
|
|
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
|
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)
|
rs2109380938
|
|
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
|
|
|
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter)
|
rs1737305761
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.255dup (p.Ile86fs)
|
rs2109372084
|
|
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter)
|
rs2109372060
|
|
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)
|
rs1448040082
|
|
NM_000232.5(SGCB):c.2T>C (p.Met1Thr)
|
rs1737457235
|
|
NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.32dup (p.Gln12fs)
|
rs796065319
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.373dup (p.Ser125fs)
|
rs2109371877
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.37del (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.433del (p.Val145fs)
|
|
|
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
|
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.494del (p.Asp165fs)
|
|
|
NM_000232.5(SGCB):c.539dup (p.Ser181fs)
|
rs1737176330
|
|
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
|
|
|
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
|
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000232.5(SGCB):c.558_568del (p.His187fs)
|
|
|
NM_000232.5(SGCB):c.567dup (p.His190fs)
|
rs1263020044
|
|
NM_000232.5(SGCB):c.579dup (p.Gly194fs)
|
rs2109370922
|
|
NM_000232.5(SGCB):c.583dup (p.Val195fs)
|
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.621+1G>A
|
rs1264362642
|
|
NM_000232.5(SGCB):c.622-1G>T
|
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
|
|
|
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
|
|
|
NM_000232.5(SGCB):c.735_736del (p.Asn246fs)
|
rs2109369924
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)
|
rs1553940687
|
|
NM_000232.5(SGCB):c.85dup (p.Arg29fs)
|
rs2109376054
|
|
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)
|
rs573916965
|
|
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)
|
rs730880631
|
|
NM_000256.3(MYBPC3):c.1020del (p.Gln339_Tyr340insTer)
|
|
|
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)
|
rs730880686
|
|
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)
|
rs730880336
|
|
NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs)
|
rs2142864164
|
|
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
|
|
|
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs)
|
rs730880723
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090+1G>C
|
|
|
NM_000256.3(MYBPC3):c.1090+1G>T
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1091-?_2308+?del
|
|
|
NM_000256.3(MYBPC3):c.1096C>T (p.Gln366Ter)
|
|
|
NM_000256.3(MYBPC3):c.1116dup (p.Tyr373fs)
|
|
|
NM_000256.3(MYBPC3):c.1119C>G (p.Tyr373Ter)
|
rs2095891411
|
|
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)
|
rs730880635
|
|
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs)
|
rs2095891398
|
|
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs)
|
rs2142869736
|
|
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)
|
rs869025465
|
|
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)
|
rs730880724
|
|
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs)
|
rs1565628486
|
|
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter)
|
rs1233894123
|
|
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)
|
rs2142862199
|
|
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)
|
rs727504329
|
|
NM_000256.3(MYBPC3):c.1223+1G>T
|
rs730880639
|
|
NM_000256.3(MYBPC3):c.1223+2T>C
|
rs730880641
|
|
NM_000256.3(MYBPC3):c.1223+2T>G
|
rs730880641
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.124_127del (p.Trp42fs)
|
rs730880659
|
|
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs)
|
rs2142861729
|
|
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)
|
rs397515895
|
|
NM_000256.3(MYBPC3):c.1277_1298del (p.Cys426fs)
|
|
|
NM_000256.3(MYBPC3):c.1278C>A (p.Cys426Ter)
|
rs746770543
|
|
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)
|
rs1432810664
|
|
NM_000256.3(MYBPC3):c.1310del (p.Val437fs)
|
rs397515896
|
|
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs)
|
rs1595846475
|
|
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs)
|
rs727505152
|
|
NM_000256.3(MYBPC3):c.1351+1G>A
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln)
|
rs786204338
|
|
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter)
|
rs786204338
|
|
NM_000256.3(MYBPC3):c.1353del (p.Glu451fs)
|
rs2142861512
|
|
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1359del (p.Val454fs)
|
rs863225271
|
|
NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs)
|
rs2142861454
|
|
NM_000256.3(MYBPC3):c.1364del (p.Leu455fs)
|
|
|
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)
|
rs786204339
|
|
NM_000256.3(MYBPC3):c.1378_1379dup (p.Leu460fs)
|
|
|
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)
|
rs730880538
|
|
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp)
|
rs1595846365
|
|
NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter)
|
rs1415753419
|
|
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs)
|
rs1565628062
|
|
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
|
rs1595846344
|
|
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs)
|
rs876657703
|
|
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter)
|
rs730880541
|
|
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)
|
rs730880542
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1458-1G>T
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1460_1624+67del
|
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs)
|
rs1555122188
|
|
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)
|
rs730880544
|
|
NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter)
|
rs730880545
|
|
NM_000256.3(MYBPC3):c.1569del (p.His524fs)
|
rs2095889902
|
|
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs)
|
rs1555122156
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs)
|
rs730880640
|
|
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)
|
rs2142860830
|
|
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs)
|
rs2095889815
|
|
NM_000256.3(MYBPC3):c.1624+1G>A
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+1G>C
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+1G>T
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter)
|
rs121909374
|
|
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)
|
rs727504248
|
|
NM_000256.3(MYBPC3):c.162del (p.Lys54fs)
|
rs864622224
|
|
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs)
|
rs878853831
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter)
|
rs1565627615
|
|
NM_000256.3(MYBPC3):c.165C>G (p.Tyr55Ter)
|
|
|
NM_000256.3(MYBPC3):c.1666del (p.Val556fs)
|
|
|
NM_000256.3(MYBPC3):c.1699G>T (p.Glu567Ter)
|
|
|
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)
|
rs727503197
|
|
NM_000256.3(MYBPC3):c.1724del (p.Gly575fs)
|
|
|
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs)
|
rs1565627536
|
|
NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter)
|
rs2095889156
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs)
|
rs730880646
|
|
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs)
|
rs1595845888
|
|
NM_000256.3(MYBPC3):c.1775dup (p.Ser593fs)
|
|
|
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs)
|
rs730880713
|
|
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter)
|
rs1410935154
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.1790+1G>C
|
|
|
NM_000256.3(MYBPC3):c.1792delG
|
rs730880647
|
|
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)
|
rs397515926
|
|
NM_000256.3(MYBPC3):c.1808_1821del (p.Ile603fs)
|
|
|
NM_000256.3(MYBPC3):c.1816_1842del (p.Val606_Tyr614del)
|
rs1595845565
|
|
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs)
|
rs2142859359
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.182del (p.Gly61fs)
|
rs730880663
|
|
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter)
|
rs730880555
|
|
NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs)
|
rs2142859289
|
|
NM_000256.3(MYBPC3):c.1842del (p.Asp613_Tyr614insTer)
|
|
|
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)
|
rs397515932
|
|
NM_000256.3(MYBPC3):c.1895del (p.Met632fs)
|
rs397515934
|
|
NM_000256.3(MYBPC3):c.1897+1G>A
|
rs397515935
|
|
NM_000256.3(MYBPC3):c.1898-1G>A
|
rs730880558
|
|
NM_000256.3(MYBPC3):c.1900del (p.Val634fs)
|
rs2142859074
|
|
NM_000256.3(MYBPC3):c.1903A>T (p.Lys635Ter)
|
rs2142859071
|
|
NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs)
|
rs2095887873
|
|
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)
|
rs727504293
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
|
|
|
NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter)
|
rs936188645
|
|
NM_000256.3(MYBPC3):c.1960dup (p.Arg654fs)
|
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs)
|
rs1565626409
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
NM_000256.3(MYBPC3):c.2047del (p.Trp683fs)
|
|
|
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)
|
rs397515942
|
|
NM_000256.3(MYBPC3):c.2063del (p.Thr688fs)
|
|
|
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)
|
rs863224483
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer)
|
rs2142857362
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs)
|
rs397515948
|
|
NM_000256.3(MYBPC3):c.2130del (p.Glu710fs)
|
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000256.3(MYBPC3):c.2149-2del
|
rs1555121488
|
|
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)
|
rs730880362
|
|
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter)
|
rs730880696
|
|
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)
|
rs397515954
|
|
NM_000256.3(MYBPC3):c.218del (p.Pro73fs)
|
|
|
NM_000256.3(MYBPC3):c.2195del (p.Asp732fs)
|
|
|
NM_000256.3(MYBPC3):c.221C>TT
|
rs1555123743
|
|
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs)
|
rs730880650
|
|
NM_000256.3(MYBPC3):c.2230_2233del (p.Glu744fs)
|
|
|
NM_000256.3(MYBPC3):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC (p.Gly747fs)
|
rs2095884984
|
|
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys)
|
rs1060501474
|
|
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs)
|
rs730880651
|
|
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)
|
rs1060501478
|
|
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
|
|
|
NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)
|
rs1565625777
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2308+1G>T
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs)
|
rs1057518030
|
|
NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs)
|
rs1057518030
|
|
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)
|
rs863225106
|
|
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)
|
rs863225112
|
|
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs)
|
rs1565625473
|
|
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter)
|
rs730880698
|
|
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer)
|
rs730880664
|
|
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)
|
rs730880714
|
|
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter)
|
rs727504864
|
|
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)
|
rs730880341
|
|
NM_000256.3(MYBPC3):c.2413+1G>A
|
rs1595843828
|
|
NM_000256.3(MYBPC3):c.2416dup (p.Tyr806fs)
|
|
|
NM_000256.3(MYBPC3):c.2436_2437delinsTT (p.Lys812_Lys813delinsAsnTer)
|
|
|
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs)
|
rs1595843758
|
|
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)
|
rs1419032418
|
|
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)
|
rs397515965
|
|
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)
|
rs730880652
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2460del (p.Arg820_Leu821insTer)
|
|
|
NM_000256.3(MYBPC3):c.2469del (p.Phe823fs)
|
|
|
NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter)
|
rs2142855351
|
|
NM_000256.3(MYBPC3):c.25+1G>A
|
rs113709679
|
|
NM_000256.3(MYBPC3):c.25+1G>C
|
|
|
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
|
|
|
NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs)
|
rs2095883508
|
|
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)
|
rs730880653
|
|
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter)
|
rs397515969
|
|
NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs)
|
rs1219930764
|
|
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)
|
rs397515970
|
|
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter)
|
rs373792537
|
|
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)
|
rs373792537
|
|
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)
|
rs1595843640
|
|
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs)
|
rs2095900581
|
|
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)
|
rs730880654
|
|
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)
|
rs397515973
|
|
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2545_2550delinsTCAT (p.Val849fs)
|
|
|
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)
|
rs863225105
|
|
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)
|
rs397515975
|
|
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)
|
rs727503186
|
|
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs)
|
rs397515977
|
|
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs)
|
rs2095883336
|
|
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs)
|
rs1555121172
|
|
NM_000256.3(MYBPC3):c.256del (p.Ser86fs)
|
|
|
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs)
|
rs1060501481
|
|
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs)
|
rs1595843549
|
|
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs)
|
rs2142855105
|
|
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs)
|
rs1064792936
|
|
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
|
|
|
NM_000256.3(MYBPC3):c.2604_2607del (p.Pro870fs)
|
|
|
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)
|
rs730880655
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
|
|
|
NM_000256.3(MYBPC3):c.2645_2646del (p.Val881_Ser882insTer)
|
|
|
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs)
|
rs1555120937
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)
|
rs730880657
|
|
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter)
|
rs1555120920
|
|
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter)
|
rs886038822
|
|
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
|
|
|
NM_000256.3(MYBPC3):c.2738-2A>G
|
|
|
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs)
|
rs730880660
|
|
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)
|
rs727504349
|
|
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter)
|
rs730880576
|
|
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs)
|
rs1057517766
|
|
NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter)
|
rs367729718
|
|
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer)
|
rs2142853009
|
|
NM_000256.3(MYBPC3):c.2770_2857dup (p.Gly953fs)
|
|
|
NM_000256.3(MYBPC3):c.2774_2775del (p.Glu925fs)
|
|
|
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)
|
rs727504265
|
|
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)
|
rs876657705
|
|
NM_000256.3(MYBPC3):c.2801dup (p.Pro935fs)
|
|
|
NM_000256.3(MYBPC3):c.2812del (p.Ala938fs)
|
rs2142852944
|
|
NM_000256.3(MYBPC3):c.2825_2826delinsAA (p.Phe942Ter)
|
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs)
|
rs786204352
|
|
NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs)
|
rs2142852868
|
|
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)
|
rs1565624090
|
|
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)
|
rs727503182
|
|
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)
|
rs730880578
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
NM_000256.3(MYBPC3):c.2905+2T>A
|
rs2095880858
|
|
NM_000256.3(MYBPC3):c.2905+2T>C
|
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter)
|
rs868819340
|
|
NM_000256.3(MYBPC3):c.2936_2939del (p.Leu979fs)
|
|
|
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs)
|
rs397515995
|
|
NM_000256.3(MYBPC3):c.2948_2951del (p.Ile983fs)
|
|
|
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter)
|
rs1555120651
|
|
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)
|
rs727504423
|
|
NM_000256.3(MYBPC3):c.2980del (p.Leu994fs)
|
rs2142851880
|
|
NM_000256.3(MYBPC3):c.2981del (p.Leu994fs)
|
|
|
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
|
|
|
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)
|
rs11570112
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)
|
rs1565631430
|
|
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
|
rs2095879705
|
|
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)
|
rs730880586
|
|
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs)
|
rs397515997
|
|
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs)
|
rs1555123633
|
|
NM_000256.3(MYBPC3):c.3079G>AA
|
rs730880666
|
|
NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs)
|
rs2095899755
|
|
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)
|
rs1060501475
|
|
NM_000256.3(MYBPC3):c.310del (p.Leu104fs)
|
rs1565631428
|
|
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
|
rs1064793202
|
|
NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs)
|
rs2142851443
|
|
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
|
|
|
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)
|
rs573821685
|
|
NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter)
|
rs573821685
|
|
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
|
|
|
NM_000256.3(MYBPC3):c.313del (p.Ala105fs)
|
rs1565631424
|
|
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)
|
rs869025461
|
|
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs)
|
rs727503174
|
|
NM_000256.3(MYBPC3):c.317del (p.Pro106fs)
|
rs1555123629
|
|
NM_000256.3(MYBPC3):c.318del (p.Ala107fs)
|
rs2142868794
|
|
NM_000256.3(MYBPC3):c.3190+1del
|
rs2142851321
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3211del (p.Asp1071fs)
|
|
|
NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs)
|
rs2142851045
|
|
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)
|
rs730880668
|
|
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs)
|
rs1555120529
|
|
NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs)
|
rs2142850980
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)
|
rs866966651
|
|
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
|
|
|
NM_000256.3(MYBPC3):c.324del (p.Ala109fs)
|
rs730880721
|
|
NM_000256.3(MYBPC3):c.3258G>A (p.Trp1086Ter)
|
rs1595841552
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)
|
rs397516013
|
|
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)
|
rs767039057
|
|
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)
|
rs397516014
|
|
NM_000256.3(MYBPC3):c.329del (p.Pro110fs)
|
|
|
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)
|
rs863225113
|
|
NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs)
|
rs2142850807
|
|
NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs)
|
rs2142850741
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)
|
rs2142850736
|
|
NM_000256.3(MYBPC3):c.3330+1G>T
|
rs1298025872
|
|
NM_000256.3(MYBPC3):c.3330+2T>C
|
rs387906397
|
|
NM_000256.3(MYBPC3):c.3330+5G>A
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)
|
rs730880337
|
|
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)
|
rs727504276
|
|
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000256.3(MYBPC3):c.3359dup (p.Arg1121fs)
|
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3382_3388del (p.Glu1128fs)
|
|
|
NM_000256.3(MYBPC3):c.3402del (p.Tyr1135fs)
|
|
|
NM_000256.3(MYBPC3):c.3408C>G (p.Tyr1136Ter)
|
rs193922383
|
|
NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter)
|
rs2142850286
|
|
NM_000256.3(MYBPC3):c.3440_3441del (p.Gly1146_Phe1147insTer)
|
|
|
NM_000256.3(MYBPC3):c.3466G>T (p.Glu1156Ter)
|
|
|
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
|
|
|
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)
|
rs730880720
|
|
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs)
|
rs730880675
|
|
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs)
|
rs397516019
|
|
NM_000256.3(MYBPC3):c.3490+1G>A
|
rs397516020
|
|
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)
|
rs397516023
|
|
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs)
|
rs876657706
|
|
NM_000256.3(MYBPC3):c.3523dup (p.Leu1175fs)
|
|
|
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)
|
rs730880699
|
|
NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs)
|
rs2095878299
|
|
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs)
|
rs1595841063
|
|
NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter)
|
rs761545914
|
|
NM_000256.3(MYBPC3):c.3595_3596del (p.Met1199fs)
|
|
|
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)
|
rs727504271
|
|
NM_000256.3(MYBPC3):c.3600_3609dup (p.Val1204fs)
|
|
|
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)
|
rs1060501484
|
|
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
NM_000256.3(MYBPC3):c.3627+2T>G
|
rs1299079662
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.362del (p.Pro121fs)
|
rs397516032
|
|
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)
|
rs730880597
|
|
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)
|
rs863225107
|
|
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)
|
rs730880598
|
|
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)
|
rs1060501480
|
|
NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs)
|
rs2142849434
|
|
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
|
|
|
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs)
|
rs2142849399
|
|
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
|
|
|
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)
|
rs1064796231
|
|
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)
|
rs730880600
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer)
|
rs1057517767
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del)
|
rs730880676
|
|
NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs)
|
rs2142849315
|
|
NM_000256.3(MYBPC3):c.3748del (p.Ile1250fs)
|
|
|
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs)
|
rs2095877711
|
|
NM_000256.3(MYBPC3):c.3752dup (p.Tyr1251Ter)
|
|
|
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter)
|
rs397516039
|
|
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs)
|
rs2095877685
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.3779del (p.Gly1260fs)
|
|
|
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)
|
rs1595840648
|
|
NM_000256.3(MYBPC3):c.395dup (p.Ser133fs)
|
|
|
NM_000256.3(MYBPC3):c.401_405del (p.Pro134fs)
|
|
|
NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter)
|
rs2142868665
|
|
NM_000256.3(MYBPC3):c.405del (p.Ser137fs)
|
rs1555123597
|
|
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs)
|
rs1555123597
|
|
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter)
|
rs730880703
|
|
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter)
|
rs730880704
|
|
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)
|
rs397516047
|
|
NM_000256.3(MYBPC3):c.440del (p.Pro147fs)
|
rs1595849931
|
|
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)
|
rs730880677
|
|
NM_000256.3(MYBPC3):c.451del (p.Asp151fs)
|
|
|
NM_000256.3(MYBPC3):c.453del (p.Asp151fs)
|
rs730880679
|
|
NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs)
|
rs730880680
|
|
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)
|
rs397516052
|
|
NM_000256.3(MYBPC3):c.462del (p.Ile154fs)
|
|
|
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs)
|
rs730880366
|
|
NM_000256.3(MYBPC3):c.480del (p.Pro161fs)
|
rs1555123496
|
|
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
|
rs730880618
|
|
NM_000256.3(MYBPC3):c.506-1G>A
|
rs397516056
|
|
NM_000256.3(MYBPC3):c.506-2A>C
|
rs397516057
|
|
NM_000256.3(MYBPC3):c.506-3_506dup
|
rs1555123438
|
|
NM_000256.3(MYBPC3):c.514dup (p.Ile172fs)
|
rs2142867855
|
|
NM_000256.3(MYBPC3):c.529del (p.Arg177fs)
|
|
|
NM_000256.3(MYBPC3):c.533del (p.Val178fs)
|
rs727503217
|
|
NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs)
|
rs2142867804
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
|
rs375607980
|
|
NM_000256.3(MYBPC3):c.554del (p.Lys185fs)
|
rs2095898569
|
|
NM_000256.3(MYBPC3):c.565del (p.Val189fs)
|
rs2142867765
|
|
NM_000256.3(MYBPC3):c.568_569del (p.Lys190fs)
|
rs2095898532
|
|
NM_000256.3(MYBPC3):c.569del (p.Lys190fs)
|
|
|
NM_000256.3(MYBPC3):c.573G>A (p.Trp191Ter)
|
|
|
NM_000256.3(MYBPC3):c.586del (p.Trp196fs)
|
rs730880681
|
|
NM_000256.3(MYBPC3):c.603del (p.Ser201fs)
|
|
|
NM_000256.3(MYBPC3):c.611_618delinsT (p.Gly204fs)
|
|
|
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)
|
rs397516061
|
|
NM_000256.3(MYBPC3):c.619dup (p.Leu207fs)
|
|
|
NM_000256.3(MYBPC3):c.623_626dup (p.His210fs)
|
|
|
NM_000256.3(MYBPC3):c.627_637del (p.His210fs)
|
rs1555123389
|
|
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg)
|
rs397516062
|
|
NM_000256.3(MYBPC3):c.653del (p.Lys218fs)
|
|
|
NM_000256.3(MYBPC3):c.655-1G>A
|
rs397516067
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs)
|
rs1060501479
|
|
NM_000256.3(MYBPC3):c.660del (p.Leu221fs)
|
|
|
NM_000256.3(MYBPC3):c.669del (p.Glu223fs)
|
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.681del (p.Asp228fs)
|
rs2095896870
|
|
NM_000256.3(MYBPC3):c.688C>T (p.Gln230Ter)
|
|
|
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs)
|
rs2142866256
|
|
NM_000256.3(MYBPC3):c.743_746del (p.Asp248fs)
|
|
|
NM_000256.3(MYBPC3):c.772+1G>A
|
rs397516072
|
|
NM_000256.3(MYBPC3):c.772G>T (p.Glu258Ter)
|
|
|
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter)
|
rs373730381
|
|
NM_000256.3(MYBPC3):c.803dup (p.Ser269fs)
|
|
|
NM_000256.3(MYBPC3):c.821+1G>C
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.821+1G>T
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.821+2T>A
|
rs397516076
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000256.3(MYBPC3):c.887_891del (p.Ser296fs)
|
rs2142865197
|
|
NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter)
|
rs2142865199
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000256.3(MYBPC3):c.906-1G>A
|
rs587776700
|
|
NM_000256.3(MYBPC3):c.906-1G>C
|
rs587776700
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs)
|
rs730880678
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter)
|
rs2142864321
|
|
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)
|
rs727503211
|
|
NM_000256.3(MYBPC3):c.989del (p.Pro330fs)
|
|
|
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)
|
rs745811346
|
|
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter)
|
rs727503209
|
|
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)
|
rs367947846
|
|
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)
|
rs367947846
|
|
NM_000257.3(MYH7):c.4522_4524del
|
rs397516220
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1049A>G (p.Tyr350Cys)
|
rs876661150
|
|
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)
|
rs730880864
|
|
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp)
|
rs2138677416
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe)
|
rs1555338378
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1216G>A (p.Val406Met)
|
rs1422611896
|
|
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)
|
rs730880159
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)
|
rs397516110
|
|
NM_000257.4(MYH7):c.1544T>G (p.Met515Arg)
|
rs863224900
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)
|
rs1060501443
|
|
NM_000257.4(MYH7):c.1711G>C (p.Gly571Arg)
|
rs730880879
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe)
|
rs1131691685
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2012G>A (p.Arg671His)
|
rs730880883
|
|
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)
|
rs397516128
|
|
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser)
|
rs730880732
|
|
NM_000257.4(MYH7):c.2092G>A (p.Val698Met)
|
rs1057518560
|
|
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)
|
rs863225101
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2135G>A (p.Arg712His)
|
rs1224554825
|
|
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)
|
rs121913638
|
|
NM_000257.4(MYH7):c.2146G>C (p.Gly716Arg)
|
rs121913638
|
|
NM_000257.4(MYH7):c.2150A>G (p.Asp717Gly)
|
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)
|
rs121913630
|
|
NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)
|
rs727504299
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu)
|
rs1057520814
|
|
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu)
|
rs121913643
|
|
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly)
|
rs121913634
|
|
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn)
|
rs886039185
|
|
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg)
|
rs730880736
|
|
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe)
|
rs1222361739
|
|
NM_000257.4(MYH7):c.2411T>C (p.Leu804Pro)
|
rs1555337794
|
|
NM_000257.4(MYH7):c.2459C>A (p.Ala820Asp)
|
rs730880741
|
|
NM_000257.4(MYH7):c.2464A>G (p.Met822Val)
|
rs730880742
|
|
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg)
|
rs1566531657
|
|
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)
|
rs730880746
|
|
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)
|
rs397516153
|
|
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys)
|
rs730880748
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met)
|
rs758891557
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro)
|
rs1555337701
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2632G>C (p.Val878Leu)
|
rs730880751
|
|
NM_000257.4(MYH7):c.2632G>T (p.Val878Leu)
|
rs730880751
|
|
NM_000257.4(MYH7):c.2707G>C (p.Glu903Gln)
|
rs730880756
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro)
|
rs397516165
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)
|
rs397516170
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)
|
rs397516172
|
|
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys)
|
rs1131691514
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3577C>A (p.Arg1193Ser)
|
rs886039090
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn)
|
rs730880781
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu)
|
rs730880787
|
|
NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys)
|
rs1316692489
|
|
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys)
|
rs727503245
|
|
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)
|
rs727504703
|
|
NM_000257.4(MYH7):c.415G>C (p.Val139Leu)
|
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)
|
rs730880800
|
|
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)
|
rs1246272841
|
|
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)
|
rs397516212
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)
|
rs121913647
|
|
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)
|
|
|
NM_000257.4(MYH7):c.4790T>C (p.Leu1597Pro)
|
rs2138642164
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)
|
rs587779393
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys)
|
rs730880916
|
|
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)
|
rs267606909
|
|
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)
|
rs397516241
|
|
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val)
|
rs727504385
|
|
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del)
|
rs730880935
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro)
|
rs1595070747
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.5769del (p.Ser1924fs)
|
rs1892066954
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr)
|
rs1057517773
|
|
NM_000257.4(MYH7):c.677C>T (p.Ala226Val)
|
rs876657887
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.732+1G>C
|
rs730880850
|
|
NM_000257.4(MYH7):c.732+1G>T
|
rs730880850
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000257.4(MYH7):c.732+2T>G
|
rs1555338658
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.746G>C (p.Arg249Pro)
|
|
|
NM_000257.4(MYH7):c.761C>A (p.Ala254Glu)
|
rs878853842
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)
|
rs730880856
|
|
NM_000258.3(MYL3):c.445A>G (p.Met149Val)
|
rs104893748
|
|
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
|
rs199474707
|
|
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
|
|
|
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
|
|
|
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)
|
rs758700138
|
|
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)
|
rs1760626889
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
|
|
|
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)
|
rs2113389536
|
|
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
|
|
|
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
|
|
|
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
|
|
|
NM_000337.6(SGCD):c.657del (p.Thr220fs)
|
rs1369919728
|
|
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)
|
rs886043031
|
|
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs)
|
rs1554094947
|
|
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)
|
rs121909296
|
|
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
|
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000363.5(TNNI3):c.187C>T (p.Arg63Ter)
|
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)
|
rs730881069
|
|
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)
|
rs104894724
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.509G>C (p.Arg170Pro)
|
|
|
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)
|
rs397516351
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000363.5(TNNI3):c.549G>T (p.Lys183Asn)
|
rs2085710902
|
|
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)
|
rs727503499
|
|
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)
|
rs730881091
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)
|
rs267607128
|
|
NM_000371.4(TTR):c.112G>A (p.Asp38Asn)
|
rs1567945632
|
|
NM_000371.4(TTR):c.113A>G (p.Asp38Gly)
|
rs121918098
|
|
NM_000371.4(TTR):c.114T>A (p.Asp38Glu)
|
rs779619795
|
|
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
|
rs11541795
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.148G>T (p.Val50Leu)
|
|
|
NM_000371.4(TTR):c.149T>C (p.Val50Ala)
|
rs79977247
|
|
NM_000371.4(TTR):c.149T>G (p.Val50Gly)
|
rs79977247
|
|
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)
|
rs121918068
|
|
NM_000371.4(TTR):c.160A>G (p.Arg54Gly)
|
rs1598844184
|
|
NM_000371.4(TTR):c.161G>C (p.Arg54Thr)
|
rs1598844187
|
|
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
|
|
|
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)
|
rs1567945684
|
|
NM_000371.4(TTR):c.166G>C (p.Ala56Pro)
|
rs121918077
|
|
NM_000371.4(TTR):c.167C>A (p.Ala56Asp)
|
rs2073494094
|
|
NM_000371.4(TTR):c.172G>C (p.Asp58His)
|
rs2073494217
|
|
NM_000371.4(TTR):c.173A>C (p.Asp58Ala)
|
rs1598844213
|
|
NM_000371.4(TTR):c.173A>T (p.Asp58Val)
|
rs1598844213
|
|
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)
|
rs113625622
|
|
NM_000371.4(TTR):c.182G>T (p.Trp61Leu)
|
rs1567945702
|
|
NM_000371.4(TTR):c.186G>C (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)
|
rs104894665
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)
|
rs121918090
|
|
NM_000371.4(TTR):c.206C>T (p.Thr69Ile)
|
rs1555631387
|
|
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000371.4(TTR):c.223C>A (p.Leu75Met)
|
rs2073510448
|
|
NM_000371.4(TTR):c.224T>G (p.Leu75Arg)
|
rs121918079
|
|
NM_000371.4(TTR):c.229G>A (p.Gly77Arg)
|
rs1598845111
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.236C>A (p.Thr79Lys)
|
rs730881163
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
rs2073510805
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.277A>G (p.Ile93Val)
|
rs1598845164
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
|
|
|
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)
|
rs121918072
|
|
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)
|
rs121918072
|
|
NM_000371.4(TTR):c.323A>G (p.His108Arg)
|
rs2073511411
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.327G>T (p.Glu109Asp)
|
rs876661395
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000371.4(TTR):c.381T>G (p.Ile127Met)
|
rs751430411
|
|
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)
|
rs267607159
|
|
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)
|
rs121918075
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000371.4(TTR):c.425T>C (p.Val142Ala)
|
rs2144414426
|
|
NM_000371.4(TTR):c.94C>G (p.Leu32Val)
|
rs2144406525
|
|
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)
|
rs121918094
|
|
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)
|
rs587782965
|
|
NM_000432.4(MYL2):c.403-1G>A
|
|
|
NM_000432.4(MYL2):c.403-1G>T
|
rs199474813
|
|
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
|
rs199474814
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
|
|
|
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter)
|
rs1396519956
|
|
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)
|
rs794729124
|
|
NM_001005242.3(PKP2):c.1127del (p.Phe376fs)
|
rs2137919527
|
|
NM_001005242.3(PKP2):c.1170+1G>A
|
rs786204392
|
|
NM_001005242.3(PKP2):c.1170+1G>C
|
|
|
NM_001005242.3(PKP2):c.1170+1G>T
|
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)
|
rs786204393
|
|
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1217_1379-790inv
|
|
|
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
|
|
|
NM_001005242.3(PKP2):c.1252del (p.Ala418fs)
|
rs1555145509
|
|
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)
|
rs1956690062
|
|
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
|
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)
|
rs397516993
|
|
NM_001005242.3(PKP2):c.1378+1G>A
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1378+1G>C
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1379-1992C>T
|
rs2137837678
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
|
|
|
NM_001005242.3(PKP2):c.1379-2091A>T
|
|
|
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter)
|
rs2137831087
|
|
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
|
|
|
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs)
|
rs794729125
|
|
NM_001005242.3(PKP2):c.1410del (p.Lys470fs)
|
rs1565586958
|
|
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)
|
rs1565586921
|
|
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
|
|
|
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)
|
rs794729126
|
|
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)
|
rs930283260
|
|
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)
|
rs397517001
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
|
|
|
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
|
|
|
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs)
|
rs1318070848
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005242.3(PKP2):c.152_153del (p.Val51fs)
|
rs1957127435
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)
|
rs1064796069
|
|
NM_001005242.3(PKP2):c.1557-2A>G
|
rs1555143143
|
|
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs)
|
rs1555143134
|
|
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs)
|
rs2137783366
|
|
NM_001005242.3(PKP2):c.1625del (p.Leu542fs)
|
rs1060501182
|
|
NM_001005242.3(PKP2):c.1667del (p.Asp556fs)
|
rs794729128
|
|
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
|
|
|
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
|
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe)
|
rs1060501186
|
|
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
|
|
|
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter)
|
rs1956391770
|
|
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
|
|
|
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
|
|
|
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter)
|
rs2137777670
|
|
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
|
|
|
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter)
|
rs1957126844
|
|
NM_001005242.3(PKP2):c.1769del (p.Asn590fs)
|
rs1064793231
|
|
NM_001005242.3(PKP2):c.1771del (p.Arg591fs)
|
rs1555142984
|
|
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
|
|
|
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)
|
rs397517013
|
|
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs)
|
rs1956378850
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
|
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
|
|
|
NM_001005242.3(PKP2):c.190dup (p.Leu64fs)
|
rs762288961
|
|
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs)
|
rs1064792929
|
|
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
|
|
|
NM_001005242.3(PKP2):c.1968del (p.Ala657fs)
|
rs1956374971
|
|
NM_001005242.3(PKP2):c.198del (p.Lys67fs)
|
rs1555149952
|
|
NM_001005242.3(PKP2):c.2013+2T>C
|
|
|
NM_001005242.3(PKP2):c.2014-1_2014del
|
|
|
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter)
|
rs1325285497
|
|
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter)
|
rs1956192249
|
|
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)
|
rs1956192035
|
|
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs)
|
rs878854710
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)
|
rs1592729525
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
NM_001005242.3(PKP2):c.218dup (p.Asn74fs)
|
rs1257456477
|
|
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)
|
rs397517022
|
|
NM_001005242.3(PKP2):c.224-1639_274del
|
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
NM_001005242.3(PKP2):c.2276del (p.Ile759fs)
|
rs1956120988
|
|
NM_001005242.3(PKP2):c.2282del (p.Asn761fs)
|
rs1956120794
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
|
|
|
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
|
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
|
|
|
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs)
|
rs2137698036
|
|
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)
|
rs1353074803
|
|
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)
|
rs2137953226
|
|
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)
|
rs786204388
|
|
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs)
|
rs794729120
|
|
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)
|
rs763639737
|
|
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs)
|
rs2137952811
|
|
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
|
|
|
NM_001005242.3(PKP2):c.329dup (p.Met110fs)
|
rs2137952495
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
|
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
|
|
|
NM_001005242.3(PKP2):c.379dup (p.Thr127fs)
|
rs2137950985
|
|
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
|
rs794729132
|
|
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
|
|
|
NM_001005242.3(PKP2):c.464dup (p.Ser155fs)
|
rs2137950376
|
|
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs)
|
rs2137950267
|
|
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter)
|
rs1565599473
|
|
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter)
|
rs794729103
|
|
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
|
|
|
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter)
|
rs532048791
|
|
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)
|
rs532048791
|
|
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
|
|
|
NM_001005242.3(PKP2):c.623del (p.Thr208fs)
|
rs794729122
|
|
NM_001005242.3(PKP2):c.654_655del (p.His218fs)
|
rs1591828796
|
|
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
|
|
|
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter)
|
rs886041322
|
|
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
|
|
|
NM_001005242.3(PKP2):c.68del (p.Gly23fs)
|
rs1555149975
|
|
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
|
|
|
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs)
|
rs2137948074
|
|
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)
|
rs727504430
|
|
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)
|
rs1425855043
|
|
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
|
|
|
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
|
|
|
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
|
|
|
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
|
|
|
NM_001005242.3(PKP2):c.929_951dup (p.His318fs)
|
rs1064792927
|
|
NM_001005242.3(PKP2):c.951del (p.His318fs)
|
rs1555148048
|
|
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
|
|
|
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)
|
rs2137946218
|
|
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
|
|
|
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs)
|
rs2137946195
|
|
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)
|
rs1555148035
|
|
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)
|
rs1373300155
|
|
NM_001005242.3(PKP2):c.987del (p.Ser329fs)
|
rs1432861552
|
|
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)
|
rs199476306
|
|
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
|
rs104894504
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)
|
rs104894502
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)
|
rs730881141
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
|
|
|
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)
|
rs794728704
|
|
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)
|
rs794728777
|
|
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)
|
rs1226397753
|
|
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)
|
rs794728778
|
|
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)
|
rs1064794210
|
|
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)
|
rs1553454821
|
|
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
|
|
|
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)
|
rs794728781
|
|
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)
|
rs2149353116
|
|
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)
|
rs794728783
|
|
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
|
|
|
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)
|
rs771994461
|
|
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)
|
rs761834154
|
|
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)
|
rs1234449785
|
|
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr)
|
rs2149353940
|
|
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)
|
rs794728786
|
|
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
|
|
|
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)
|
rs1558405653
|
|
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
|
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)
|
rs121918605
|
|
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His)
|
rs2149354441
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)
|
rs876661386
|
|
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)
|
rs2149388042
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)
|
rs2149388137
|
|
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)
|
rs794728802
|
|
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)
|
rs794728804
|
|
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
|
|
|
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)
|
rs1291829047
|
|
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)
|
rs1558481148
|
|
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)
|
rs1553339086
|
|
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)
|
rs2102926494
|
|
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)
|
rs2102947297
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)
|
rs794728832
|
|
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
|
|
|
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
|
|
|
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)
|
rs1060500142
|
|
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)
|
rs794728706
|
|
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)
|
rs1558698334
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
|
|
|
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)
|
rs397516539
|
|
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)
|
rs1701129738
|
|
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
|
rs794728740
|
|
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)
|
rs794728708
|
|
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
|
|
|
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)
|
rs760237464
|
|
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)
|
rs760237464
|
|
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
|
|
|
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
|
|
|
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)
|
rs1558103974
|
|
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
|
rs121918597
|
|
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)
|
rs1060500156
|
|
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)
|
rs2148724390
|
|
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)
|
rs794728746
|
|
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)
|
rs794728747
|
|
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)
|
rs121918603
|
|
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)
|
rs121918601
|
|
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)
|
rs794728753
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
|
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)
|
rs2148739141
|
|
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)
|
rs2148789775
|
|
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)
|
rs1682561583
|
|
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)
|
rs727502886
|
|
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
|
|
|
NM_001122630.2(CDKN1C):c.132del (p.Glu45fs)
|
rs2133786067
|
|
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter)
|
rs1848974871
|
|
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs)
|
rs1554938197
|
|
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
|
|
|
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
|
|
|
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs)
|
rs1554938194
|
|
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs)
|
rs2133785873
|
|
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)
|
rs483352970
|
|
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
|
|
|
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs)
|
rs2133785723
|
|
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter)
|
rs2133785734
|
|
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter)
|
rs1379762772
|
|
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter)
|
rs2133785693
|
|
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs)
|
rs2133785682
|
|
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
|
|
|
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter)
|
rs2133785530
|
|
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
|
|
|
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs)
|
rs1848966851
|
|
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs)
|
rs1848965153
|
|
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
|
|
|
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter)
|
rs1220263188
|
|
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
|
|
|
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs)
|
rs1554938087
|
|
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs)
|
rs1590150660
|
|
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)
|
rs1564930265
|
|
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
|
|
|
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
|
|
|
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs)
|
rs2133784715
|
|
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs)
|
rs2133784748
|
|
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
|
|
|
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs)
|
rs1848953740
|
|
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
|
|
|
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs)
|
rs2133784672
|
|
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
|
|
|
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
|
|
|
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
|
|
|
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
|
|
|
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs)
|
rs1848931980
|
|
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs)
|
rs1554937847
|
|
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs)
|
rs2133783249
|
|
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter)
|
rs759365577
|
|
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)
|
rs1848930692
|
|
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
|
|
|
NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs)
|
rs2133786397
|
|
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs)
|
rs1564929584
|
|
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
|
|
|
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter)
|
rs1564929520
|
|
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter)
|
rs483352988
|
|
NM_001122630.2(CDKN1C):c.661del (p.Gln221fs)
|
|
|
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
|
|
|
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter)
|
rs1564929426
|
|
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter)
|
rs1848979151
|
|
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)
|
rs483352991
|
|
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter)
|
rs483352993
|
|
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)
|
rs104894200
|
|
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs)
|
rs1554937726
|
|
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
|
|
|
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
|
|
|
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs)
|
rs2133782023
|
|
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs)
|
rs2133782104
|
|
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs)
|
rs1848978708
|
|
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)
|
rs387907225
|
|
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
|
|
|
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)
|
rs318240750
|
|
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs)
|
rs2133780268
|
|
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)
|
rs267606716
|
|
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
|
|
|
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
|
|
|
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
|
|
|
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)
|
rs1564930723
|
|
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)
|
rs1848977725
|
|
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs)
|
rs2133786225
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)
|
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
NM_001232.4(CASQ2):c.1014+1G>A
|
rs1654250819
|
|
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)
|
rs1553191909
|
|
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
|
|
|
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
|
|
|
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)
|
rs756636650
|
|
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
|
|
|
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
|
|
|
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
|
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
|
|
|
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)
|
rs786205106
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
|
|
|
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
|
|
|
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)
|
rs1648034747
|
|
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)
|
rs375598471
|
|
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
|
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
NM_001232.4(CASQ2):c.737+1G>A
|
|
|
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
|
|
|
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
|
|
|
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
|
|
|
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)
|
rs1471576368
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
|
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)
|
rs767023791
|
|
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)
|
rs878854281
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs)
|
rs2154134687
|
|
NM_001267550.2(TTN):c.103749del (p.Lys34583fs)
|
rs1689787372
|
|
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)
|
rs2154134221
|
|
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
|
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
|
rs922408768
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.15496+1G>A
|
rs397517481
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)
|
rs1373610867
|
|
NM_001267550.2(TTN):c.35756del (p.Pro11919fs)
|
rs1241310204
|
|
NM_001267550.2(TTN):c.40409-2A>C
|
rs1560046529
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.41118del (p.Phe13706fs)
|
rs878854305
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
|
rs2154209202
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
|
rs1576402791
|
|
NM_001267550.2(TTN):c.51436+1G>T
|
rs761807131
|
|
NM_001267550.2(TTN):c.51436+2T>C
|
|
|
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)
|
rs794729323
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54190+1G>T
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
|
rs72646837
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.59926+1G>C
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
|
rs769345390
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.64397-2del
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.66769+2T>A
|
rs1060500483
|
|
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)
|
rs1200988060
|
|
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)
|
rs1403485272
|
|
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)
|
rs2154174801
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
|
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)
|
rs1553612386
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)
|
rs1553603394
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)
|
rs878854335
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
|
|
NM_001267550.2(TTN):c.77646del (p.Ile25883fs)
|
rs2154167034
|
|
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs)
|
rs869312117
|
|
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs)
|
rs794729346
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
|
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
|
rs72648222
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs)
|
rs2154159327
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86821+1G>A
|
rs1702741860
|
|
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)
|
rs794729356
|
|
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)
|
rs1060500586
|
|
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
|
|
|
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs)
|
rs2154153413
|
|
NM_001267550.2(TTN):c.88594+1G>T
|
rs794727467
|
|
NM_001267550.2(TTN):c.89197+2T>G
|
rs1575536935
|
|
NM_001267550.2(TTN):c.93088del (p.Arg31030fs)
|
rs2154147488
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)
|
rs1553520967
|
|
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
|
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
|
|
|
NM_001267550.2(TTN):c.97492+1G>A
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>T
|
rs727505319
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
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_001289808.2(CRYAB):c.145del (p.Leu49fs)
|
rs1965456387
|
|
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter)
|
rs1965414571
|
|
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter)
|
rs1965461881
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter)
|
rs745495679
|
|
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)
|
rs2128932126
|
|
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
|
|
|
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)
|
rs2128934390
|
|
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
|
|
|
NM_001458.5(FLNC):c.1111dup (p.Ala371fs)
|
rs2128934407
|
|
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
|
|
|
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
|
|
|
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
|
|
|
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
|
rs2128934432
|
|
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
|
|
|
NM_001458.5(FLNC):c.123del (p.Phe42fs)
|
|
|
NM_001458.5(FLNC):c.1260del (p.Arg421fs)
|
rs2128934500
|
|
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
|
|
|
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
|
|
|
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
|
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
NM_001458.5(FLNC):c.1463del (p.Gly488fs)
|
rs2128934867
|
|
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
|
rs2128932142
|
|
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)
|
rs1562988883
|
|
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs)
|
rs2128934883
|
|
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
|
|
|
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)
|
rs1554398092
|
|
NM_001458.5(FLNC):c.156dup (p.Val53fs)
|
rs2128932148
|
|
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
|
|
|
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
|
|
|
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)
|
rs199976790
|
|
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter)
|
rs376975967
|
|
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
|
rs2128935054
|
|
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter)
|
rs2128935124
|
|
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
|
|
|
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
|
|
|
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
|
rs2128932161
|
|
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
|
|
|
NM_001458.5(FLNC):c.1844dup (p.Ile616fs)
|
rs1808318504
|
|
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
|
|
|
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)
|
rs1585156327
|
|
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
|
|
|
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter)
|
rs2128935258
|
|
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
|
rs1808320936
|
|
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
|
rs757352623
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs)
|
rs1585156450
|
|
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
|
rs2128935287
|
|
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs)
|
rs2128935347
|
|
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)
|
rs1446694237
|
|
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
|
rs1808334682
|
|
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
|
|
|
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)
|
rs1808336992
|
|
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
|
|
|
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
|
|
|
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
|
|
|
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
|
rs1374893890
|
|
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer)
|
rs2128935670
|
|
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
|
|
|
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
|
|
|
NM_001458.5(FLNC):c.2389+1G>T
|
|
|
NM_001458.5(FLNC):c.2389+2T>C
|
rs112903432
|
|
NM_001458.5(FLNC):c.2390-10_2406del
|
rs1554398674
|
|
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
|
rs776269505
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
rs1389742580
|
|
NM_001458.5(FLNC):c.2507del (p.Pro836fs)
|
rs1808400111
|
|
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
|
rs1808400430
|
|
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
|
rs1367760687
|
|
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
|
rs1808416556
|
|
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
|
rs2128935921
|
|
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter)
|
rs771092335
|
|
NM_001458.5(FLNC):c.261del (p.Pro88fs)
|
rs2128932217
|
|
NM_001458.5(FLNC):c.273del (p.Phe92fs)
|
|
|
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer)
|
rs2128936006
|
|
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs)
|
rs2128936013
|
|
NM_001458.5(FLNC):c.2787del (p.Val930fs)
|
|
|
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
|
|
|
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs)
|
rs2128936072
|
|
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)
|
rs769390195
|
|
NM_001458.5(FLNC):c.2846del (p.Asp949fs)
|
rs2128936089
|
|
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
|
|
|
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
|
rs1401551498
|
|
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
|
rs2128936107
|
|
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
|
|
|
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
|
|
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
|
|
|
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
|
rs769865678
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
|
|
|
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
|
|
|
NM_001458.5(FLNC):c.3019del (p.Ser1007fs)
|
rs2128936173
|
|
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
|
rs2128936189
|
|
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter)
|
rs761978559
|
|
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
|
|
|
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
|
|
|
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
|
|
|
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
|
|
|
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
|
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs)
|
rs2128936346
|
|
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs)
|
rs2128936386
|
|
NM_001458.5(FLNC):c.338del (p.Lys113fs)
|
|
|
NM_001458.5(FLNC):c.3415del (p.His1139fs)
|
rs1808489575
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
|
rs1808505973
|
|
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
NM_001458.5(FLNC):c.3699del (p.Val1235fs)
|
rs1808508148
|
|
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
|
rs2128936516
|
|
NM_001458.5(FLNC):c.3711del (p.Lys1237fs)
|
rs2128936518
|
|
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
|
|
|
NM_001458.5(FLNC):c.3854del (p.Gly1285fs)
|
rs1808550611
|
|
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
|
|
|
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
|
|
|
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
|
|
|
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs)
|
rs1808555459
|
|
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
|
|
|
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
|
|
|
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
|
|
|
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
|
|
|
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
|
|
|
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
|
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
NM_001458.5(FLNC):c.4127+1G>T
|
rs1346981294
|
|
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
|
|
|
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
|
|
|
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
|
|
|
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
|
rs756985550
|
|
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
|
|
|
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)
|
rs1562998858
|
|
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
|
|
|
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
|
rs2128937285
|
|
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)
|
rs1554397197
|
|
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
|
|
|
NM_001458.5(FLNC):c.4510del (p.His1504fs)
|
|
|
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
|
rs2128937364
|
|
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
|
|
|
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)
|
rs2128937368
|
|
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)
|
rs1562999443
|
|
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
NM_001458.5(FLNC):c.4682del (p.Glu1561fs)
|
rs2128937556
|
|
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
|
rs2128937575
|
|
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)
|
rs1585163755
|
|
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
|
rs2128937622
|
|
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
|
rs1808681247
|
|
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
|
|
|
NM_001458.5(FLNC):c.486dup (p.Gln163fs)
|
rs2128933653
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
rs1282619643
|
|
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
|
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter)
|
rs1808708673
|
|
NM_001458.5(FLNC):c.5165del (p.Gly1722fs)
|
rs1554400242
|
|
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
|
|
|
NM_001458.5(FLNC):c.531del (p.Ile178fs)
|
rs2128933676
|
|
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
|
rs1808758208
|
|
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
|
|
|
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
|
rs2128938104
|
|
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs)
|
rs1808778979
|
|
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)
|
rs371167779
|
|
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
|
rs1808781579
|
|
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)
|
rs1585151331
|
|
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
|
rs2128938355
|
|
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)
|
rs2128933685
|
|
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
|
rs2128938360
|
|
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs)
|
rs2128938382
|
|
NM_001458.5(FLNC):c.563del (p.Gly188fs)
|
rs2128933688
|
|
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)
|
rs1563001456
|
|
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
|
rs2128938391
|
|
NM_001458.5(FLNC):c.5669-1del
|
rs1563001548
|
|
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)
|
rs1585166614
|
|
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
|
|
|
NM_001458.5(FLNC):c.5685del (p.Val1896fs)
|
rs1808809268
|
|
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)
|
rs1554400700
|
|
NM_001458.5(FLNC):c.5704del (p.Ala1902fs)
|
rs1554400703
|
|
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
|
rs2128938455
|
|
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)
|
rs764539989
|
|
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
|
|
|
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
|
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
|
|
|
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
|
|
|
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
|
|
|
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter)
|
rs2128938768
|
|
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
|
|
|
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)
|
rs1585167678
|
|
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
|
|
|
NM_001458.5(FLNC):c.592_593del (p.Cys198fs)
|
rs2128933700
|
|
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
|
rs1808872966
|
|
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
|
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
|
|
|
NM_001458.5(FLNC):c.6071del (p.Val2024fs)
|
rs2128938894
|
|
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter)
|
rs1455396332
|
|
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
|
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
|
rs2128939085
|
|
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)
|
rs1585168573
|
|
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
|
|
|
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
|
|
|
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
|
rs1808918080
|
|
NM_001458.5(FLNC):c.6447del (p.Ile2150fs)
|
rs1563003153
|
|
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter)
|
rs2128939246
|
|
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
|
|
|
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
|
|
|
NM_001458.5(FLNC):c.658del (p.Glu220fs)
|
rs2128934070
|
|
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter)
|
rs2128939316
|
|
NM_001458.5(FLNC):c.664A>G (p.Met222Val)
|
rs2128934074
|
|
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs)
|
rs2128939337
|
|
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
|
|
|
NM_001458.5(FLNC):c.671del (p.Gln224fs)
|
rs2128934076
|
|
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)
|
rs2128939369
|
|
NM_001458.5(FLNC):c.6727+21_7065del
|
|
|
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
|
|
|
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
|
|
|
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)
|
rs1808965674
|
|
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
rs1156444972
|
|
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
|
|
|
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
rs2128939496
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
rs2128939548
|
|
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)
|
rs2128939561
|
|
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
|
|
|
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)
|
rs2128939606
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7251+1G>T
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
rs2128940107
|
|
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
|
|
|
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)
|
rs2128940130
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
|
|
|
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
|
|
|
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)
|
rs2128940259
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
rs1809085817
|
|
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
|
|
|
NM_001458.5(FLNC):c.7562-1_7612dup
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
rs1809097778
|
|
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)
|
rs1809103569
|
|
NM_001458.5(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
rs1809109008
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
NM_001458.5(FLNC):c.794del (p.Gly265fs)
|
rs2128934191
|
|
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)
|
rs2128940614
|
|
NM_001458.5(FLNC):c.801del (p.Val268fs)
|
rs2128934193
|
|
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
|
|
|
NM_001458.5(FLNC):c.804del (p.Arg269fs)
|
|
|
NM_001458.5(FLNC):c.8051del (p.Val2684fs)
|
rs1809161384
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
|
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
|
|
|
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)
|
rs1585173340
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
|
|
|
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)
|
rs1417082178
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
|
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)
|
rs1411703397
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)
|
rs1224165687
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.112del (p.Ala38fs)
|
rs2125165857
|
|
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)
|
rs1575014943
|
|
NM_001927.4(DES):c.1171del (p.Leu391fs)
|
|
|
NM_001927.4(DES):c.119dup (p.Gly41fs)
|
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)
|
rs796667045
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
|
|
|
NM_001927.4(DES):c.194dup (p.Leu66fs)
|
rs1370206753
|
|
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
|
|
|
NM_001927.4(DES):c.300dup (p.Phe101fs)
|
|
|
NM_001927.4(DES):c.309del (p.Thr104fs)
|
rs2125166200
|
|
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
|
|
|
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
|
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.394C>T (p.Gln132Ter)
|
rs1060503165
|
|
NM_001927.4(DES):c.452_459del (p.Val151fs)
|
rs2125166454
|
|
NM_001927.4(DES):c.514C>T (p.Gln172Ter)
|
rs1559352440
|
|
NM_001927.4(DES):c.525_526del (p.Val176fs)
|
rs769096434
|
|
NM_001927.4(DES):c.525_526dup (p.Val176fs)
|
|
|
NM_001927.4(DES):c.549_564del (p.Leu184fs)
|
|
|
NM_001927.4(DES):c.599T>A (p.Leu200Ter)
|
rs2125167364
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+1G>T
|
rs397516698
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
|
|
|
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
|
rs1954358233
|
|
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
|
rs959034410
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001943.4(DSG2):c.1015del
|
rs794728094
|
|
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)
|
rs1555627108
|
|
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs)
|
rs2144332585
|
|
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
|
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)
|
rs752522753
|
|
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
|
|
|
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
|
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter)
|
rs1375012922
|
|
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
|
|
|
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter)
|
rs2144346522
|
|
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
|
|
|
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer)
|
rs397516703
|
|
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
|
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.1880-2A>G
|
rs397514038
|
|
NM_001943.5(DSG2):c.2257del (p.Ala753fs)
|
rs1567933176
|
|
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
|
|
|
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs)
|
rs1252006527
|
|
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs)
|
rs794728098
|
|
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter)
|
rs200201181
|
|
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs)
|
rs2144359029
|
|
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)
|
rs1375081885
|
|
NM_001943.5(DSG2):c.2551del (p.Ile851fs)
|
rs763907170
|
|
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
|
|
|
NM_001943.5(DSG2):c.2620del (p.Thr874fs)
|
rs755243947
|
|
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)
|
rs1567934720
|
|
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)
|
rs1452179158
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)
|
rs727502990
|
|
NM_001943.5(DSG2):c.290del (p.Pro97fs)
|
|
|
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)
|
rs794728084
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
NM_001943.5(DSG2):c.2990del (p.Gly997fs)
|
rs1252426323
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.307_308del (p.Val103fs)
|
rs1555671201
|
|
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
|
|
|
NM_001943.5(DSG2):c.423del (p.Lys141fs)
|
rs2073125384
|
|
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
|
rs794728091
|
|
NM_001943.5(DSG2):c.495dup (p.Gly166fs)
|
rs781532110
|
|
NM_001943.5(DSG2):c.498del (p.Ser167fs)
|
|
|
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
|
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
NM_001943.5(DSG2):c.523+1G>C
|
rs553299589
|
|
NM_001943.5(DSG2):c.527_533del (p.Thr176fs)
|
rs2144317658
|
|
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer)
|
rs2144317934
|
|
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)
|
rs1555671331
|
|
NM_001943.5(DSG2):c.630del (p.Phe211fs)
|
|
|
NM_001943.5(DSG2):c.649dup (p.Thr217fs)
|
rs1598811394
|
|
NM_001943.5(DSG2):c.676_680del (p.Thr226fs)
|
rs2144318119
|
|
NM_001943.5(DSG2):c.745dup (p.Thr249fs)
|
rs2073148989
|
|
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
|
rs2073149649
|
|
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
|
|
|
NM_001943.5(DSG2):c.871dup (p.Thr291fs)
|
rs759944835
|
|
NM_001943.5(DSG2):c.882dup (p.Val295fs)
|
rs1187924885
|
|
NM_001943.5(DSG2):c.909del (p.Asp304fs)
|
rs2144322985
|
|
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
|
|
|
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)
|
rs2144323019
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
NM_001943.5(DSG2):c.91del (p.Thr31fs)
|
rs758282201
|
|
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
|
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
NM_001985.3(ETFB):c.362del (p.Leu121fs)
|
|
|
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
|
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer)
|
rs2123580195
|
|
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
|
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
|
|
|
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
|
|
|
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
|
|
|
NM_002230.4(JUP):c.1455_1462del (p.Val486fs)
|
rs1597801392
|
|
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter)
|
rs2143456924
|
|
NM_002230.4(JUP):c.1807del (p.Val603fs)
|
rs1597782553
|
|
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter)
|
rs2143426682
|
|
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
|
|
|
NM_002230.4(JUP):c.188del (p.Gln63fs)
|
rs1555606936
|
|
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)
|
rs113994177
|
|
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter)
|
rs2143416425
|
|
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)
|
rs2143697976
|
|
NM_002230.4(JUP):c.532_542del (p.Ala178fs)
|
rs2143683612
|
|
NM_002230.4(JUP):c.545C>A (p.Ser182Ter)
|
rs145592971
|
|
NM_002230.4(JUP):c.654del (p.Leu219fs)
|
rs2143680611
|
|
NM_002230.4(JUP):c.687del (p.Ala230fs)
|
|
|
NM_002230.4(JUP):c.781_796del (p.Lys261fs)
|
rs2143651415
|
|
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
|
|
|
NM_002230.4(JUP):c.916del (p.Ile306fs)
|
|
|
NM_002471.4(MYH6):c.1410+1G>A
|
rs1566513862
|
|
NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)
|
|
|
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
|
rs1170935238
|
|
NM_002633.3(PGM1):c.1091del (p.Asn364fs)
|
rs1557437034
|
|
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
|
|
NM_002633.3(PGM1):c.119del (p.Ile40fs)
|
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.1474del (p.Leu492fs)
|
rs1376645472
|
|
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
|
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.28_37del (p.Gln10fs)
|
rs759220275
|
|
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
|
|
|
NM_002633.3(PGM1):c.661del (p.Arg221fs)
|
rs587777405
|
|
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
|
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_002633.3(PGM1):c.929_930del (p.Val310fs)
|
rs2100988650
|
|
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
|
|
|
NM_002667.4(PLN):c.-97-?_*1344+?del
|
|
|
NM_002667.5(PLN):c.105_106del (p.Phe35fs)
|
|
|
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)
|
rs111033559
|
|
NM_002667.5(PLN):c.26_29dup (p.Ala11fs)
|
rs1779066083
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_002667.5(PLN):c.85C>T (p.Gln29Ter)
|
rs1779072006
|
|
NM_002667.5(PLN):c.95_98del (p.Phe32fs)
|
rs2114970035
|
|
NM_002667.5(PLN):c.9dup (p.Val4fs)
|
rs2114969441
|
|
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
|
|
|
NM_003140.3(SRY):c.169C>T (p.Gln57Ter)
|
rs1603308308
|
|
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
|
|
|
NM_003140.3(SRY):c.203T>C (p.Ile68Thr)
|
rs104894968
|
|
NM_003140.3(SRY):c.263C>A (p.Ser88Ter)
|
rs1556370558
|
|
NM_003140.3(SRY):c.264dup (p.Glu89fs)
|
rs1556370556
|
|
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter)
|
rs1556370548
|
|
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys)
|
rs104894973
|
|
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser)
|
rs397514616
|
|
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)
|
rs773840992
|
|
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)
|
rs1850628800
|
|
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)
|
|
|
NM_003476.5(CSRP3):c.279del (p.Gln93fs)
|
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter)
|
rs1554967541
|
|
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
|
|
|
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter)
|
rs1850523074
|
|
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs)
|
rs1336937886
|
|
NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)
|
rs779699520
|
|
NM_003673.4(TCAP):c.110+2T>C
|
|
|
NM_003673.4(TCAP):c.110+5G>A
|
rs794729178
|
|
NM_003673.4(TCAP):c.110_110+1del
|
rs786205076
|
|
NM_003673.4(TCAP):c.136_137del (p.Gln46fs)
|
rs2057249899
|
|
NM_003673.4(TCAP):c.151_154del (p.Tyr51fs)
|
|
|
NM_003673.4(TCAP):c.166C>T (p.Gln56Ter)
|
rs1435437660
|
|
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)
|
rs778568339
|
|
NM_003673.4(TCAP):c.34del (p.Glu12fs)
|
rs1555606959
|
|
NM_003673.4(TCAP):c.34dup (p.Glu12fs)
|
rs1555606959
|
|
NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer)
|
rs886044421
|
|
NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)
|
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)
|
|
|
NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)
|
rs1562498114
|
|
NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter)
|
|
|
NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)
|
|
|
NM_004100.5(EYA4):c.1472del (p.Leu491fs)
|
|
|
NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)
|
|
|
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)
|
rs1554275988
|
|
NM_004100.5(EYA4):c.1776dup (p.Gly593fs)
|
|
|
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)
|
|
|
NM_004100.5(EYA4):c.223_224del (p.Val75fs)
|
|
|
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)
|
|
|
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
|
|
|
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)
|
|
|
NM_004100.5(EYA4):c.61del (p.Val21fs)
|
|
|
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter)
|
rs1293420539
|
|
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter)
|
rs2128674457
|
|
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
|
|
|
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
|
|
|
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)
|
rs1847237761
|
|
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter)
|
rs1847238300
|
|
NM_004281.4(BAG3):c.1057del (p.Gln353fs)
|
rs2134068813
|
|
NM_004281.4(BAG3):c.1067del (p.Pro356fs)
|
rs727505109
|
|
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
|
|
|
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del)
|
rs2134068860
|
|
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)
|
rs1846844070
|
|
NM_004281.4(BAG3):c.1161dup (p.Lys388fs)
|
rs1554877765
|
|
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)
|
rs117749531
|
|
NM_004281.4(BAG3):c.1292dup (p.Val432fs)
|
rs886039182
|
|
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
|
|
|
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter)
|
rs2134069217
|
|
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter)
|
rs765426544
|
|
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter)
|
rs2134069248
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)
|
rs756020699
|
|
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
|
|
|
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)
|
rs1564767043
|
|
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
|
|
|
NM_004281.4(BAG3):c.160del (p.Val54fs)
|
|
|
NM_004281.4(BAG3):c.165del (p.Ser56fs)
|
rs2134050674
|
|
NM_004281.4(BAG3):c.206dup (p.Ser70fs)
|
rs1554876984
|
|
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
|
|
|
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)
|
rs1554876999
|
|
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)
|
rs1554877001
|
|
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
|
rs1057517945
|
|
NM_004281.4(BAG3):c.277dup (p.Tyr93fs)
|
rs1564773589
|
|
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
|
|
|
NM_004281.4(BAG3):c.329dup (p.His112fs)
|
rs1344275862
|
|
NM_004281.4(BAG3):c.331_332del (p.Phe111fs)
|
rs2134063372
|
|
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
|
|
|
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
|
|
|
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
|
|
|
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)
|
rs2134063421
|
|
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
|
|
|
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)
|
rs2134050486
|
|
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)
|
rs1847126002
|
|
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
|
|
|
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
|
|
|
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
|
|
|
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter)
|
rs1474660052
|
|
NM_004281.4(BAG3):c.488del (p.Pro163fs)
|
rs1847128695
|
|
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)
|
rs1589630001
|
|
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)
|
rs2134064943
|
|
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)
|
rs1564774433
|
|
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter)
|
rs2134065052
|
|
NM_004281.4(BAG3):c.607dup (p.Arg203fs)
|
rs1554877224
|
|
NM_004281.4(BAG3):c.612del (p.Tyr205fs)
|
rs2134065084
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)
|
rs121918312
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter)
|
rs2134065136
|
|
NM_004281.4(BAG3):c.654del (p.Pro219fs)
|
rs2134065158
|
|
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)
|
rs876661342
|
|
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
|
|
|
NM_004281.4(BAG3):c.727dup (p.His243fs)
|
|
|
NM_004281.4(BAG3):c.72del (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.72dup (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)
|
rs876657634
|
|
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)
|
rs1343231277
|
|
NM_004281.4(BAG3):c.751del (p.Gln251fs)
|
rs1847165958
|
|
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)
|
rs1564774668
|
|
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter)
|
rs2134065278
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
|
|
|
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter)
|
rs2134065350
|
|
NM_004281.4(BAG3):c.824del (p.Ser275fs)
|
rs2134065363
|
|
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)
|
rs1057518511
|
|
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
|
|
|
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)
|
rs2134068635
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)
|
rs1847236072
|
|
NM_004281.4(BAG3):c.969_972del (p.Lys324fs)
|
rs1589632398
|
|
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
|
|
|
NM_004281.4(BAG3):c.974del (p.Pro325fs)
|
rs1847236575
|
|
NM_004415.2(DSP):c.2131_2132del
|
rs587782927
|
|
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
|
|
|
NM_004415.4(DSP):c.1003del (p.Gln335fs)
|
rs2113671104
|
|
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs)
|
rs2113671123
|
|
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
|
|
|
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)
|
rs1249913357
|
|
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter)
|
rs2113672480
|
|
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)
|
rs778856526
|
|
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs)
|
rs2113672514
|
|
NM_004415.4(DSP):c.1119del (p.Glu374fs)
|
|
|
NM_004415.4(DSP):c.1146del (p.Phe382fs)
|
rs397516913
|
|
NM_004415.4(DSP):c.1162del (p.Thr388fs)
|
rs1554106742
|
|
NM_004415.4(DSP):c.1182del (p.Leu395fs)
|
rs1554106743
|
|
NM_004415.4(DSP):c.1186del (p.Gln396fs)
|
rs2113673178
|
|
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter)
|
rs2113673248
|
|
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
|
|
|
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
|
|
|
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)
|
rs1758912749
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
|
|
|
NM_004415.4(DSP):c.1282dup (p.Ile428fs)
|
rs1561687796
|
|
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)
|
rs761380979
|
|
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer)
|
rs2113674180
|
|
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter)
|
rs2113674300
|
|
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly)
|
rs1057518309
|
|
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
|
|
|
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)
|
rs1581802715
|
|
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
|
|
|
NM_004415.4(DSP):c.1439del (p.Asp480fs)
|
rs2113675360
|
|
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
|
|
|
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
|
|
|
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter)
|
rs1758962311
|
|
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
|
|
|
NM_004415.4(DSP):c.1582del (p.Gln528fs)
|
rs2113677263
|
|
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
|
|
|
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter)
|
rs794728114
|
|
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter)
|
rs1759011966
|
|
NM_004415.4(DSP):c.1680del (p.Arg561fs)
|
|
|
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)
|
rs606231295
|
|
NM_004415.4(DSP):c.1708del (p.Thr570fs)
|
|
|
NM_004415.4(DSP):c.1710_1711del (p.Met571fs)
|
rs2113678808
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
|
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
|
rs1581805788
|
|
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
|
|
|
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)
|
rs1554107097
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.1883del (p.Gly628fs)
|
rs1060500613
|
|
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)
|
rs1464886350
|
|
NM_004415.4(DSP):c.1941dup (p.Asp648fs)
|
rs2113679761
|
|
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
|
|
|
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter)
|
rs760214732
|
|
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter)
|
rs2113679972
|
|
NM_004415.4(DSP):c.2060del (p.Thr687fs)
|
rs2113680129
|
|
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
|
|
|
NM_004415.4(DSP):c.2086del (p.Gln696fs)
|
|
|
NM_004415.4(DSP):c.2149del (p.Gln717fs)
|
rs2113682999
|
|
NM_004415.4(DSP):c.214C>T (p.Gln72Ter)
|
rs397516923
|
|
NM_004415.4(DSP):c.2166del (p.Leu723fs)
|
|
|
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
|
|
|
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
|
|
|
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
|
|
|
NM_004415.4(DSP):c.2185dup (p.Met729fs)
|
rs2113683109
|
|
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter)
|
rs2113683217
|
|
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
|
|
|
NM_004415.4(DSP):c.2236del (p.Val746fs)
|
rs1759155407
|
|
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
|
|
|
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
|
|
|
NM_004415.4(DSP):c.2311del (p.Arg771fs)
|
|
|
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
|
rs1581809567
|
|
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)
|
rs2113684096
|
|
NM_004415.4(DSP):c.2390_2393del (p.Val797fs)
|
rs754566092
|
|
NM_004415.4(DSP):c.247_248del (p.Met83fs)
|
|
|
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)
|
rs1561693779
|
|
NM_004415.4(DSP):c.2498dup (p.Lys834fs)
|
rs1759204244
|
|
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)
|
rs768521444
|
|
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
|
|
|
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
|
|
|
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
|
|
|
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter)
|
rs2113685159
|
|
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
|
|
|
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter)
|
rs1060500618
|
|
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
|
|
|
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter)
|
rs794728118
|
|
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)
|
rs2113686447
|
|
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)
|
rs730880081
|
|
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter)
|
rs2113686466
|
|
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
|
|
|
NM_004415.4(DSP):c.2655del (p.Lys886fs)
|
rs2113686478
|
|
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
|
|
|
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer)
|
rs1759240256
|
|
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)
|
rs1561694696
|
|
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
|
|
|
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
|
|
|
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
|
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.2832del (p.Glu945fs)
|
rs2113687612
|
|
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs)
|
rs2113687617
|
|
NM_004415.4(DSP):c.2842del (p.Gln948fs)
|
|
|
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
|
|
|
NM_004415.4(DSP):c.2848del (p.Ile950fs)
|
rs397516927
|
|
NM_004415.4(DSP):c.2848dup (p.Ile950fs)
|
rs397516927
|
|
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer)
|
rs794728139
|
|
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter)
|
rs2113688859
|
|
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter)
|
rs2113688911
|
|
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
|
|
|
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
|
|
|
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
|
|
|
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs)
|
rs1554107839
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
|
|
|
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs)
|
rs1554107916
|
|
NM_004415.4(DSP):c.3045del (p.Arg1015fs)
|
rs1409693501
|
|
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
|
|
|
NM_004415.4(DSP):c.3094del (p.Thr1032fs)
|
rs2113690997
|
|
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
|
|
|
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
|
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)
|
rs397516932
|
|
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs)
|
rs778930865
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
|
|
|
NM_004415.4(DSP):c.320T>A (p.Leu107Ter)
|
rs2113657559
|
|
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
|
|
|
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)
|
rs1554108050
|
|
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter)
|
rs1759345923
|
|
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter)
|
rs1561697181
|
|
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)
|
rs1561680649
|
|
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
|
rs1581792793
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.3338del (p.Arg1113fs)
|
rs2113691528
|
|
NM_004415.4(DSP):c.3346del (p.Tyr1116fs)
|
rs2113691557
|
|
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter)
|
rs772646601
|
|
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs)
|
rs1064794616
|
|
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter)
|
rs2113691766
|
|
NM_004415.4(DSP):c.3449del (p.Lys1150fs)
|
rs2113691774
|
|
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter)
|
rs1759354150
|
|
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)
|
rs1581815654
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
NM_004415.4(DSP):c.3494dup (p.Glu1166fs)
|
rs2113691887
|
|
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
|
|
|
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)
|
rs1759357763
|
|
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
|
|
|
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter)
|
rs2113692122
|
|
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)
|
rs1759359916
|
|
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2113692133
|
|
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs)
|
rs2113692208
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs)
|
rs2113692271
|
|
NM_004415.4(DSP):c.3733del (p.Glu1245fs)
|
rs794728142
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter)
|
rs1413961070
|
|
NM_004415.4(DSP):c.3757del (p.Ile1253fs)
|
rs2113692562
|
|
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)
|
rs2113692628
|
|
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
|
rs1554108172
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
|
|
|
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)
|
rs397516933
|
|
NM_004415.4(DSP):c.384dup (p.Arg129fs)
|
|
|
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
|
|
|
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
|
|
|
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
|
|
|
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
|
|
|
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
|
|
|
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
|
|
|
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)
|
rs879255521
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
|
|
|
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
|
|
|
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
|
|
|
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs)
|
rs1759385935
|
|
NM_004415.4(DSP):c.415del (p.Gln139fs)
|
|
|
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)
|
rs140474226
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter)
|
rs774065012
|
|
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
|
|
|
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
|
|
|
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
|
|
|
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs)
|
rs2113693785
|
|
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs)
|
rs2113693861
|
|
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter)
|
rs1561698750
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer)
|
rs1759396933
|
|
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
|
|
|
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)
|
rs1236464864
|
|
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
|
|
|
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
|
rs1227662860
|
|
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter)
|
rs2113694068
|
|
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter)
|
rs2113694076
|
|
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
|
|
|
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
|
|
|
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
|
|
|
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)
|
rs2113659637
|
|
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
|
|
|
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer)
|
rs2113694449
|
|
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
|
|
|
NM_004415.4(DSP):c.465del (p.Ile156fs)
|
rs1554105911
|
|
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)
|
rs2113694673
|
|
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter)
|
rs2113694704
|
|
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs)
|
rs2113694794
|
|
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
|
|
|
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs)
|
rs2113694822
|
|
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)
|
rs1259613160
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)
|
rs1060500610
|
|
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
|
|
|
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs)
|
rs1759421816
|
|
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
|
|
|
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
|
|
|
NM_004415.4(DSP):c.4882del (p.Arg1628fs)
|
rs2113695145
|
|
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
|
|
|
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs)
|
rs1758603690
|
|
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
|
|
|
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
|
|
|
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
|
|
|
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer)
|
rs1759426108
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
NM_004415.4(DSP):c.5004dup (p.Leu1669fs)
|
rs2113695398
|
|
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
|
|
|
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter)
|
rs786205416
|
|
NM_004415.4(DSP):c.5020dup (p.Ser1674fs)
|
rs2113695431
|
|
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
|
|
|
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs)
|
rs2113695514
|
|
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
|
|
|
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
|
|
|
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
|
|
|
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
|
|
|
NM_004415.4(DSP):c.5154del (p.Met1719fs)
|
|
|
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
|
rs1581819043
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
NM_004415.4(DSP):c.522T>A (p.Cys174Ter)
|
rs144781697
|
|
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
|
rs1581794029
|
|
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
|
|
|
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)
|
rs1554108477
|
|
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
|
|
|
NM_004415.4(DSP):c.5318del (p.Leu1773fs)
|
rs2113696088
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
|
|
|
NM_004415.4(DSP):c.5389dup (p.Arg1797fs)
|
rs1759475221
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter)
|
rs2113697854
|
|
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
|
|
|
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
|
|
|
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs)
|
rs1554108610
|
|
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs)
|
rs1759478436
|
|
NM_004415.4(DSP):c.5460dup (p.Val1821fs)
|
rs1554108609
|
|
NM_004415.4(DSP):c.5462del (p.Val1821fs)
|
rs2113697914
|
|
NM_004415.4(DSP):c.5542del (p.Arg1848fs)
|
rs1759482084
|
|
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs)
|
rs1554108621
|
|
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
|
|
|
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
|
|
|
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs)
|
rs1759489185
|
|
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs)
|
rs1759489644
|
|
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs)
|
rs1487814687
|
|
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs)
|
rs1487814687
|
|
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs)
|
rs1487814687
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
|
|
|
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
|
|
|
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)
|
rs1060500607
|
|
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)
|
rs2113698710
|
|
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)
|
rs1561701401
|
|
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
|
|
|
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
|
|
|
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)
|
rs121912996
|
|
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter)
|
rs2113698797
|
|
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
|
|
|
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter)
|
rs2113698863
|
|
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer)
|
rs2113698912
|
|
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)
|
rs869025395
|
|
NM_004415.4(DSP):c.5855del (p.Glu1952fs)
|
rs1759501217
|
|
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
|
|
|
NM_004415.4(DSP):c.5887dup (p.Thr1963fs)
|
rs2113699015
|
|
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter)
|
rs2113699152
|
|
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
|
|
|
NM_004415.4(DSP):c.5987del (p.Lys1996fs)
|
rs1759510200
|
|
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
|
|
|
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
|
|
|
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs)
|
rs2113699501
|
|
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
|
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.623del (p.Gly208fs)
|
rs2113665067
|
|
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
|
|
|
NM_004415.4(DSP):c.6262del (p.Ala2088fs)
|
rs1759522381
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter)
|
rs2113699911
|
|
NM_004415.4(DSP):c.6318del (p.Val2107fs)
|
rs2113699991
|
|
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter)
|
rs2113700191
|
|
NM_004415.4(DSP):c.6393del (p.Gly2133fs)
|
rs730880093
|
|
NM_004415.4(DSP):c.6398dup (p.Val2134fs)
|
rs794728147
|
|
NM_004415.4(DSP):c.6456dup (p.Leu2153fs)
|
rs1554108854
|
|
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)
|
rs1554108859
|
|
NM_004415.4(DSP):c.646dup (p.Gln216fs)
|
rs2113665124
|
|
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs)
|
rs794728148
|
|
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
|
|
|
NM_004415.4(DSP):c.6562del (p.Glu2188fs)
|
rs2113700654
|
|
NM_004415.4(DSP):c.6583_6584del (p.His2195fs)
|
rs1561702771
|
|
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
|
|
|
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs)
|
rs2113700906
|
|
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs)
|
rs2113701020
|
|
NM_004415.4(DSP):c.6767del (p.Gly2256fs)
|
rs1759546885
|
|
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)
|
rs794728130
|
|
NM_004415.4(DSP):c.6937del (p.Glu2313fs)
|
rs794728143
|
|
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)
|
rs1554108929
|
|
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.700C>T (p.Gln234Ter)
|
rs1758740270
|
|
NM_004415.4(DSP):c.7075del (p.Ile2359fs)
|
rs1561703363
|
|
NM_004415.4(DSP):c.7082dup (p.His2363fs)
|
rs2113701589
|
|
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)
|
rs28931610
|
|
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)
|
rs387906618
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
|
|
|
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
|
rs2113701867
|
|
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter)
|
rs1194358112
|
|
NM_004415.4(DSP):c.7248del (p.Phe2416fs)
|
rs730880024
|
|
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
|
|
|
NM_004415.4(DSP):c.729del (p.Glu244fs)
|
|
|
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
|
|
|
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs)
|
rs1581823931
|
|
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs)
|
rs2113702255
|
|
NM_004415.4(DSP):c.7469del (p.Tyr2490fs)
|
rs1581824066
|
|
NM_004415.4(DSP):c.7529del (p.Gly2510fs)
|
rs2113702487
|
|
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs)
|
rs1320456072
|
|
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs)
|
rs1759580297
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004415.4(DSP):c.7623del (p.Lys2542fs)
|
rs397514039
|
|
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
|
|
|
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
|
|
|
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)
|
rs763560697
|
|
NM_004415.4(DSP):c.7820del (p.Ser2607fs)
|
rs2113703361
|
|
NM_004415.4(DSP):c.7873dup (p.Thr2625fs)
|
rs794728149
|
|
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs)
|
rs1561704475
|
|
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
|
|
|
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs)
|
rs1759606062
|
|
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
|
|
|
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
|
|
|
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
|
|
|
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter)
|
rs1064793890
|
|
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
|
|
|
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
|
|
|
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
|
|
|
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs)
|
rs879254352
|
|
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
|
|
|
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
|
|
|
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
|
|
|
NM_004415.4(DSP):c.8156del (p.Pro2719fs)
|
rs1554109181
|
|
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)
|
rs879254353
|
|
NM_004415.4(DSP):c.8173del (p.Arg2725fs)
|
rs1759623444
|
|
NM_004415.4(DSP):c.8182dup (p.Glu2728fs)
|
rs1554109187
|
|
NM_004415.4(DSP):c.818dup (p.Asn274fs)
|
rs1758828554
|
|
NM_004415.4(DSP):c.827_830del (p.Ile276fs)
|
rs1758828907
|
|
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
|
|
|
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
|
|
|
NM_004415.4(DSP):c.85G>T (p.Glu29Ter)
|
rs1320349488
|
|
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)
|
rs397516973
|
|
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)
|
rs876657799
|
|
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter)
|
rs149701627
|
|
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)
|
rs149701627
|
|
NM_004415.4(DSP):c.894G>A (p.Trp298Ter)
|
rs2113669445
|
|
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
|
|
|
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)
|
rs1238227166
|
|
NM_004415.4(DSP):c.924dup (p.Gln309fs)
|
rs2113669536
|
|
NM_004415.4(DSP):c.925C>T (p.Gln309Ter)
|
rs1581799453
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004415.4(DSP):c.931del (p.Ala311fs)
|
|
|
NM_004415.4(DSP):c.939+1G>T
|
rs727504443
|
|
NM_004415.4(DSP):c.939+1del
|
rs1758835134
|
|
NM_004415.4(DSP):c.939+2T>C
|
rs2113669594
|
|
NM_004415.4(DSP):c.942dup (p.Arg315fs)
|
rs1758864039
|
|
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)
|
rs121912991
|
|
NM_004415.4(DSP):c.997del (p.Ser333fs)
|
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1062del (p.Gly355fs)
|
rs2150312280
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
|
rs1774519872
|
|
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)
|
rs1200031596
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
|
|
|
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
|
|
|
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
|
|
|
NM_004453.4(ETFDH):c.1285+2T>G
|
rs2126309523
|
|
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
|
|
|
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)
|
rs2126314844
|
|
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
|
|
|
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
|
|
|
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)
|
rs1580422708
|
|
NM_004453.4(ETFDH):c.1375del (p.His459fs)
|
rs1774610957
|
|
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter)
|
rs989125087
|
|
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)
|
rs745714733
|
|
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
|
|
|
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)
|
rs2126315337
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
|
rs1774616485
|
|
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs)
|
rs2126315444
|
|
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)
|
rs863224869
|
|
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs)
|
rs2126316172
|
|
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr)
|
rs751394068
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter)
|
rs878853006
|
|
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs)
|
rs1774633192
|
|
NM_004453.4(ETFDH):c.1623del (p.Asp541fs)
|
rs2126316669
|
|
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
|
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs)
|
rs2150304416
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs)
|
rs2126316783
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
|
|
|
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)
|
rs2126316885
|
|
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
|
|
|
NM_004453.4(ETFDH):c.1690+2T>G
|
|
|
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)
|
rs1774695889
|
|
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
|
|
|
NM_004453.4(ETFDH):c.1745del (p.Asn582fs)
|
rs1774698674
|
|
NM_004453.4(ETFDH):c.175+1del
|
rs2150304426
|
|
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)
|
rs781498366
|
|
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
|
|
|
NM_004453.4(ETFDH):c.1785del (p.Asp596fs)
|
rs2126321079
|
|
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter)
|
rs1580425904
|
|
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
|
|
|
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)
|
rs2126321296
|
|
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
|
|
|
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
|
|
|
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
|
rs1773877563
|
|
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter)
|
rs2150305196
|
|
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)
|
rs1773880008
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)
|
rs121964953
|
|
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)
|
rs796051962
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
|
|
|
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
|
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)
|
rs121964956
|
|
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
|
|
|
NM_004453.4(ETFDH):c.386del (p.Pro129fs)
|
rs2150305297
|
|
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
|
|
|
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
|
|
|
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
|
|
|
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
|
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
|
|
|
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs)
|
rs1231802914
|
|
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs)
|
rs1773954366
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
|
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
|
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)
|
rs121964955
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.71dup (p.Asn24fs)
|
rs2150304342
|
|
NM_004453.4(ETFDH):c.838del (p.Val280fs)
|
|
|
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)
|
rs755907131
|
|
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)
|
rs1774344831
|
|
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)
|
rs1169197181
|
|
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)
|
rs2150312216
|
|
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)
|
rs2150312228
|
|
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)
|
rs1555144459
|
|
NM_004572.3(PKP2):c.2146-?_2489+?del
|
|
|
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_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp)
|
rs730880460
|
|
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup)
|
rs1554884966
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)
|
rs727503094
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln)
|
rs1554034036
|
|
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
|
|
|
NM_006073.4(TRDN):c.22+1G>T
|
rs1290195833
|
|
NM_006073.4(TRDN):c.232+2T>A
|
rs1554258777
|
|
NM_006073.4(TRDN):c.232+2T>C
|
|
|
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
|
|
|
NM_006073.4(TRDN):c.334del (p.Asp112fs)
|
|
|
NM_006073.4(TRDN):c.423del (p.Glu142fs)
|
rs757805966
|
|
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
|
|
|
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)
|
rs752256846
|
|
NM_006073.4(TRDN):c.439_440del (p.Lys147fs)
|
rs2114339116
|
|
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
|
|
|
NM_006073.4(TRDN):c.483del (p.Val162fs)
|
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
|
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
|
|
|
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)
|
rs768049331
|
|
NM_006073.4(TRDN):c.568dup (p.Ile190fs)
|
rs1085307100
|
|
NM_006073.4(TRDN):c.573dup (p.Lys192fs)
|
rs1554251609
|
|
NM_006073.4(TRDN):c.618del (p.Ala208fs)
|
rs1060502114
|
|
NM_006073.4(TRDN):c.91del (p.Val31fs)
|
rs2114537918
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)
|
rs869025191
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.259G>C (p.Asp87His)
|
rs886041414
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
|
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
NM_006939.4(SOS2):c.800T>C (p.Met267Thr)
|
rs797045167
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)
|
rs1195263093
|
|
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
|
|
|
NM_014908.4(DOLK):c.3G>A (p.Met1Ile)
|
rs1564546510
|
|
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala)
|
rs2151024166
|
|
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)
|
rs121908988
|
|
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
|
|
|
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
|
|
|
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp)
|
rs1804721948
|
|
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)
|
rs267606977
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)
|
rs1808950153
|
|
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)
|
rs121908987
|
|
NM_020297.4(ABCC9):c.1266T>G (p.Asn422Lys)
|
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His)
|
rs387907227
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
|
rs387907209
|
|
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met)
|
rs2137272605
|
|
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met)
|
rs1555179320
|
|
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)
|
rs587782951
|
|
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs)
|
rs1581254366
|
|
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs)
|
rs1562205351
|
|
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs)
|
rs1763204241
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)
|
rs1554189131
|
|
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)
|
rs1562097849
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)
|
rs1064794051
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
|
rs878855075
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter)
|
rs1581411478
|
|
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
|
rs1765713589
|
|
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)
|
rs1554202205
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024422.6(DSC2):c.1023dup (p.Ile342fs)
|
rs768389941
|
|
NM_024422.6(DSC2):c.1053_1059del (p.His351fs)
|
rs1373100329
|
|
NM_024422.6(DSC2):c.110_114del (p.Leu37fs)
|
rs2144850365
|
|
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
|
|
|
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
|
|
|
NM_024422.6(DSC2):c.123del (p.Lys42fs)
|
rs1598592533
|
|
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
|
|
|
NM_024422.6(DSC2):c.133del (p.Ala45fs)
|
|
|
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs)
|
rs1987170019
|
|
NM_024422.6(DSC2):c.1486del (p.Tyr496fs)
|
rs1987161799
|
|
NM_024422.6(DSC2):c.1571del (p.Thr524fs)
|
rs2144812824
|
|
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)
|
rs878853170
|
|
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer)
|
rs2144800227
|
|
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs)
|
rs2144799555
|
|
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)
|
rs1986951516
|
|
NM_024422.6(DSC2):c.1932dup (p.Ser645fs)
|
rs1448467079
|
|
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer)
|
rs1986844120
|
|
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)
|
rs1555637555
|
|
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
|
|
|
NM_024422.6(DSC2):c.2136dup (p.Thr713fs)
|
rs2144788632
|
|
NM_024422.6(DSC2):c.2186del (p.Pro729fs)
|
rs1598572298
|
|
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)
|
rs769022411
|
|
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
|
|
|
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
|
|
|
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)
|
rs1567971476
|
|
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter)
|
rs1987624232
|
|
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter)
|
rs1555641322
|
|
NM_024422.6(DSC2):c.686del (p.Leu229fs)
|
|
|
NM_024422.6(DSC2):c.729del (p.Phe243fs)
|
rs2144833653
|
|
NM_024422.6(DSC2):c.77del (p.Ile26fs)
|
rs1555640399
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.882dup (p.Phe295fs)
|
rs1060502989
|
|
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
|
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
|
|
|
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)
|
rs1555639134
|
|
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
|
|
|
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter)
|
rs777033025
|
|
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
|
|
|
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
|
|
|
NM_032578.4(MYPN):c.1722del (p.Lys575fs)
|
rs2134168183
|
|
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter)
|
rs1226400049
|
|
NM_032578.4(MYPN):c.1910dup (p.Thr639fs)
|
rs2134169413
|
|
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter)
|
rs2134198422
|
|
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
|
|
|
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
|
|
|
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter)
|
rs2134204980
|
|
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)
|
rs756823228
|
|
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter)
|
rs755507922
|
|
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
|
|
|
NM_032578.4(MYPN):c.3057del (p.Met1020fs)
|
rs2134278222
|
|
NM_032578.4(MYPN):c.3127del (p.Ser1043fs)
|
rs1589608098
|
|
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)
|
rs1057519573
|
|
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
|
|
|
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
|
|
|
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs)
|
rs2134300034
|
|
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
|
|
|
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter)
|
rs2133994592
|
|
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)
|
|
|
NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)
|
|
|
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter)
|
rs1571150562
|
|
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
|
|
|
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter)
|
rs1557988499
|
|
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer)
|
rs2102146999
|
|
NM_144573.4(NEXN):c.1348dup (p.Ser450fs)
|
rs1553240600
|
|
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter)
|
rs767792289
|
|
NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)
|
|
|
NM_144573.4(NEXN):c.1502del (p.Arg501fs)
|
rs1425668712
|
|
NM_144573.4(NEXN):c.1536dup (p.Met513fs)
|
|
|
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)
|
rs765396527
|
|
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter)
|
rs999958582
|
|
NM_144573.4(NEXN):c.298G>T (p.Gly100Ter)
|
|
|
NM_144573.4(NEXN):c.354_357del (p.Lys119fs)
|
|
|
NM_144573.4(NEXN):c.461_464del (p.Asn154fs)
|
rs794729088
|
|
NM_144573.4(NEXN):c.676del (p.Ser226fs)
|
|
|
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
|
|
|
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter)
|
rs1002648603
|
|
NM_144573.4(NEXN):c.798del (p.Glu267fs)
|
|
|
NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
|
|
|
NM_144573.4(NEXN):c.962del (p.Arg321fs)
|
rs915318065
|
|
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)
|
rs2141016437
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
|
|
|
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
|
|
|
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)
|
rs1566876929
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)
|
rs1566876954
|
|
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
|
|
|
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
|
|
|
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)
|
rs1555392783
|
|
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
|
|
|
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)
|
rs2141016553
|
|
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
|
|
|
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
|
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
|
rs1595763928
|
|
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
|
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
|
|
|
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)
|
rs2141016685
|
|
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
|
|
|
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)
|
rs2141016692
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
|
|
|
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
|
rs1895110802
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)
|
rs727504170
|
|
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)
|
rs1566867209
|
|
NM_152594.3(SPRED1):c.272del (p.His91fs)
|
|
|
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
|
|
|
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)
|
rs1566867246
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.305del (p.Thr102fs)
|
rs2140994872
|
|
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
|
rs1595746834
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
|
|
|
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)
|
rs1555391061
|
|
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
|
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)
|
rs1895621783
|
|
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)
|
rs1566868022
|
|
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)
|
rs764823722
|
|
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
|
rs1895677481
|
|
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
|
rs1324903101
|
|
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
|
|
|
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)
|
rs2140978331
|
|
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
|
|
|
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
|
|
|
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
|
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
|
|
|
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)
|
rs2141014847
|
|
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)
|
rs368660900
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter)
|
rs1555392609
|
|
NM_152594.3(SPRED1):c.684+1G>T
|
|
|
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)
|
rs2141016007
|
|
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
|
|
|
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
|
|
|
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
|
|
|
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)
|
rs1888473716
|
|
NM_152594.3(SPRED1):c.794dup (p.Asp265fs)
|
rs2141016108
|
|
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
|
rs864622410
|
|
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
|
rs1595763557
|
|
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)
|
rs755557783
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
|
rs1595763656
|
|
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
|
rs1595763662
|
|
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
|
rs1595763659
|
|
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)
|
rs1555392759
|
|
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
|
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
|
|
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
|
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
|
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
Single allele
|
|
|