NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
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.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)
|
rs764164607
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
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_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)
|
rs182913453
|
0.00004
|
NM_004453.4(ETFDH):c.406-1G>A
|
rs750189181
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)
|
rs119458971
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)
|
rs1429464723
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
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.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
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.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
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.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)
|
rs751556332
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
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_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.911-1G>A
|
rs958678700
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004453.4(ETFDH):c.176-2A>T
|
rs1485038306
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NC_012920.1:m.5782_13922del8141
|
|
|
NC_012920.1:m.5794_14876del9083
|
|
|
NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)
|
|
|
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_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
|
|
|
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)
|
|
|
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)
|
rs748450834
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
NM_000018.4(ACADVL):c.1333-2A>T
|
rs1057517280
|
|
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)
|
rs766742117
|
|
NM_000018.4(ACADVL):c.139-1G>A
|
|
|
NM_000018.4(ACADVL):c.139-1G>T
|
rs1597518019
|
|
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)
|
rs1555528937
|
|
NM_000018.4(ACADVL):c.1678+1G>T
|
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
|
|
|
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
|
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)
|
|
|
NM_000018.4(ACADVL):c.277+2T>A
|
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
|
|
|
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
|
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
NM_000018.4(ACADVL):c.477+1G>C
|
rs2142969951
|
|
NM_000018.4(ACADVL):c.479_486del
|
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
|
|
|
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
|
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
NM_000018.4(ACADVL):c.604del (p.Leu202fs)
|
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
|
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.879-2_879-1del
|
|
|
NM_000018.4(ACADVL):c.90del (p.Gln30fs)
|
|
|
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)
|
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
|
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.157+2T>G
|
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
|
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.37+3A>T
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.386-1G>A
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
|
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
|
|
|
NM_000023.4(SGCA):c.71del (p.Gln24fs)
|
|
|
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.762del (p.Pro255fs)
|
|
|
NM_000023.4(SGCA):c.794del (p.Gly265fs)
|
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
|
|
|
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
|
|
|
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
|
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.226del (p.Val76fs)
|
|
|
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
|
|
|
NM_000126.4(ETFA):c.266del (p.Pro89fs)
|
|
|
NM_000126.4(ETFA):c.268+1G>C
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)
|
|
|
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
|
|
|
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
|
|
|
NM_000126.4(ETFA):c.451+1G>A
|
|
|
NM_000126.4(ETFA):c.452-2A>G
|
rs2141531787
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.516del (p.Phe173fs)
|
|
|
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
|
|
|
NM_000126.4(ETFA):c.664+2dup
|
|
|
NM_000126.4(ETFA):c.665-1G>A
|
|
|
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
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.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000182.5(HADHA):c.1221-2A>G
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)
|
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.181-1G>A
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)
|
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)
|
|
|
NM_000182.5(HADHA):c.2077del (p.Ile693fs)
|
|
|
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)
|
|
|
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)
|
|
|
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)
|
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
|
|
|
NM_000182.5(HADHA):c.67+1G>A
|
|
|
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
|
|
|
NM_000182.5(HADHA):c.919-1G>A
|
|
|
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
|
|
|
NM_000182.5(HADHA):c.976-2A>G
|
|
|
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)
|
|
|
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)
|
rs1555234810
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.298-2A>C
|
rs1555240119
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.386-2A>C
|
rs886042757
|
|
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.578+1G>C
|
rs1555245353
|
|
NM_000231.3(SGCG):c.579-1G>A
|
|
|
NM_000231.3(SGCG):c.579-1G>C
|
|
|
NM_000231.3(SGCG):c.580_584del
|
|
|
NM_000231.3(SGCG):c.758dup (p.Pro254fs)
|
|
|
NM_000231.3(SGCG):c.796del (p.Val266fs)
|
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)
|
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
|
|
|
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
|
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
|
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.374del (p.Ser125fs)
|
|
|
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
|
|
|
NM_000232.5(SGCB):c.429+2dup
|
|
|
NM_000232.5(SGCB):c.430-2A>G
|
|
|
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
|
|
|
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
|
|
|
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
|
|
|
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro)
|
rs886044156
|
|
NM_000232.5(SGCB):c.621+2T>C
|
|
|
NM_000232.5(SGCB):c.703dup (p.Met235fs)
|
|
|
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)
|
rs730880677
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
|
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000337.6(SGCD):c.18_37del (p.Gln6fs)
|
|
|
NM_000337.6(SGCD):c.227del (p.Gly76fs)
|
|
|
NM_000337.6(SGCD):c.4-1G>T
|
rs1554094927
|
|
NM_000337.6(SGCD):c.400del (p.Ala134fs)
|
|
|
NM_000337.6(SGCD):c.441dup (p.Leu148fs)
|
|
|
NM_000337.6(SGCD):c.699+1G>A
|
|
|
NM_000337.6(SGCD):c.717dup (p.Lys240fs)
|
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1839+2T>A
|
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
|
|
|
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)
|
rs794728785
|
|
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)
|
rs794728834
|
|
NM_001079802.2(FKTN):c.1022del (p.Pro341fs)
|
rs2133163213
|
|
NM_001079802.2(FKTN):c.1044+2T>A
|
|
|
NM_001079802.2(FKTN):c.1045-1G>T
|
|
|
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
|
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
|
|
|
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.1225_1236delinsT (p.Val409fs)
|
|
|
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)
|
rs765934383
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
|
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
|
|
|
NM_001079802.2(FKTN):c.166-1G>A
|
|
|
NM_001079802.2(FKTN):c.219del (p.Ile75fs)
|
|
|
NM_001079802.2(FKTN):c.21del (p.Asn7fs)
|
|
|
NM_001079802.2(FKTN):c.348dup (p.Tyr117fs)
|
|
|
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)
|
rs1376019203
|
|
NM_001079802.2(FKTN):c.370-1G>C
|
|
|
NM_001079802.2(FKTN):c.38T>A (p.Leu13Ter)
|
|
|
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)
|
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
NM_001079802.2(FKTN):c.515A>G (p.His172Arg)
|
|
|
NM_001079802.2(FKTN):c.530_546del (p.His177fs)
|
|
|
NM_001079802.2(FKTN):c.540del (p.Ser180fs)
|
rs1828477244
|
|
NM_001079802.2(FKTN):c.594del (p.Lys198fs)
|
|
|
NM_001079802.2(FKTN):c.608del (p.Arg203fs)
|
|
|
NM_001079802.2(FKTN):c.60dup (p.Leu21fs)
|
|
|
NM_001079802.2(FKTN):c.658del (p.Gln220fs)
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
NM_001079802.2(FKTN):c.914_925delinsTATTCCTAATA (p.Trp305fs)
|
|
|
NM_001079802.2(FKTN):c.989_991delinsTAATC (p.Asp330fs)
|
|
|
NM_001079802.2(FKTN):c.998T>G (p.Leu333Ter)
|
|
|
NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)
|
|
|
NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)
|
|
|
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)
|
rs1564664312
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001267550.2(TTN):c.10115-1G>C
|
rs2088245783
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
|
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
|
|
|
NM_001267550.2(TTN):c.86822-2A>G
|
rs773710035
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
|
|
|
NM_001267550.2(TTN):c.98989+2T>C
|
|
|
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
|
|
|
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
|
|
|
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
|
|
|
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
|
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
|
|
|
NM_001985.3(ETFB):c.208del (p.Gln70fs)
|
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
|
|
|
NM_001985.3(ETFB):c.375+1G>C
|
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)
|
rs104894677
|
|
NM_001985.3(ETFB):c.598-1del
|
rs750961823
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
|
|
|
NM_001985.3(ETFB):c.94del (p.Asp32fs)
|
|
|
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
|
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.1159_1162del (p.Thr386_Ala387insTer)
|
|
|
NM_004168.4(SDHA):c.1188_1195del (p.Lys397fs)
|
|
|
NM_004168.4(SDHA):c.1232del (p.Gly411fs)
|
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+1G>T
|
|
|
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG
|
rs1579410180
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1832del (p.Gln611fs)
|
rs1554002451
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.668dup (p.Asp223fs)
|
|
|
NM_004168.4(SDHA):c.723_730dup (p.Ile244fs)
|
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
|
|
|
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
|
|
|
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
|
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)
|
|
|
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
|
|
|
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
|
|
|
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)
|
|
|
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
|
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
|
|
|
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
|
|
|
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
|
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
|
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
|
|
|
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
|
|
|
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
|
|
|
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
|
|
|
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
|
|
|
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
|
|
|
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
|
|
|
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)
|
|
|
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
|
|
|
NM_004453.4(ETFDH):c.34+1G>A
|
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.485_487+14delinsT
|
rs796051963
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.606+1G>T
|
|
|
NM_004453.4(ETFDH):c.607-1G>A
|
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
NM_004453.4(ETFDH):c.685-1G>A
|
|
|
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
|
|
|
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
|
|
|
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_004453.4(ETFDH):c.831+1G>A
|
|
|
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
|
|
|
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)
|
|
|
NM_005138.3(SCO2):c.225G>A (p.Trp75Ter)
|
|
|
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
|
|
|
NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln)
|
|
|
NM_005138.3(SCO2):c.45_46del (p.Gln16fs)
|
|
|
NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)
|
|
|
NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)
|
|
|
NM_005138.3(SCO2):c.609_610del (p.His203fs)
|
|
|
NM_005138.3(SCO2):c.672_682del (p.Ser225fs)
|
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_020297.4(ABCC9):c.1664T>C (p.Phe555Ser)
|
rs1947296046
|
|
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)
|
rs1430105900
|
|
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
|
|
|
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
|
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)
|
rs764755556
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|