NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser)
|
rs149067277
|
0.00031
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp)
|
rs142213379
|
0.00009
|
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys)
|
rs372115732
|
0.00008
|
NM_001321120.2(TBX4):c.1106G>A (p.Arg369His)
|
rs765868170
|
0.00006
|
NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr)
|
rs769578381
|
0.00006
|
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)
|
rs536406541
|
0.00005
|
NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys)
|
rs760996563
|
0.00004
|
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)
|
rs374694591
|
0.00004
|
NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg)
|
rs146829316
|
0.00004
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter)
|
rs759293027
|
0.00003
|
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)
|
rs773135384
|
0.00003
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)
|
rs147641113
|
0.00002
|
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)
|
rs200429513
|
0.00002
|
NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)
|
rs760185283
|
0.00002
|
NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)
|
rs199971720
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro)
|
rs141691706
|
0.00001
|
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)
|
rs863223425
|
0.00001
|
NM_001204.7(BMPR2):c.853-2A>G
|
rs863223424
|
0.00001
|
NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu)
|
rs61739275
|
0.00001
|
NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg)
|
rs577394793
|
0.00001
|
NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys)
|
rs765739860
|
0.00001
|
NM_001321120.2(TBX4):c.1426A>C (p.Asn476His)
|
rs1181682853
|
0.00001
|
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)
|
rs774711057
|
0.00001
|
NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln)
|
rs746247653
|
0.00001
|
NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser)
|
rs917982090
|
0.00001
|
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs)
|
rs1560082927
|
0.00001
|
NM_001753.5(CAV1):c.238A>G (p.Ser80Gly)
|
rs369884333
|
0.00001
|
NM_006035.4(CDC42BPB):c.424G>A (p.Ala142Thr)
|
rs1198710710
|
0.00001
|
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)
|
rs146583835
|
|
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
|
rs1427473572
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)
|
rs2144958410
|
|
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)
|
rs2144833336
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)
|
rs886037946
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)
|
rs2144649756
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)
|
rs2144629622
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)
|
rs2145245595
|
|
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)
|
rs137852744
|
|
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)
|
rs1085307301
|
|
NM_001204.7(BMPR2):c.1128+1G>A
|
rs863223420
|
|
NM_001204.7(BMPR2):c.1128+1G>C
|
rs863223420
|
|
NM_001204.7(BMPR2):c.1154C>G (p.Pro385Arg)
|
rs2106019955
|
|
NM_001204.7(BMPR2):c.1175T>A (p.Val392Glu)
|
rs1085307309
|
|
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
|
|
|
NM_001204.7(BMPR2):c.1276+1G>A
|
rs767070218
|
|
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe)
|
rs1347010932
|
|
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter)
|
rs1085307346
|
|
NM_001204.7(BMPR2):c.1413+1G>A
|
rs1085307349
|
|
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)
|
rs1085307355
|
|
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val)
|
rs1085307358
|
|
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)
|
rs137852746
|
|
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)
|
rs137852749
|
|
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter)
|
rs1085307360
|
|
NM_001204.7(BMPR2):c.1492G>A (p.Glu498Lys)
|
rs757981921
|
|
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)
|
rs1060502583
|
|
NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter)
|
rs2106042229
|
|
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter)
|
rs886039219
|
|
NM_001204.7(BMPR2):c.1744A>T (p.Lys582Ter)
|
rs2105711272
|
|
NM_001204.7(BMPR2):c.1748dup (p.Asn583fs)
|
rs772920507
|
|
NM_001204.7(BMPR2):c.1939_1940del (p.Gln647fs)
|
rs2105711563
|
|
NM_001204.7(BMPR2):c.1958del (p.Pro653fs)
|
rs2105711575
|
|
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)
|
rs1085307177
|
|
NM_001204.7(BMPR2):c.2073dup (p.Gln692fs)
|
rs2105711699
|
|
NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys)
|
rs1553503208
|
|
NM_001204.7(BMPR2):c.2146G>T (p.Glu716Ter)
|
rs2105711807
|
|
NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter)
|
rs137852742
|
|
NM_001204.7(BMPR2):c.2202del (p.Pro735fs)
|
rs1688559190
|
|
NM_001204.7(BMPR2):c.2216del (p.Pro739fs)
|
rs1574506949
|
|
NM_001204.7(BMPR2):c.2268del (p.Ser757fs)
|
rs2105711988
|
|
NM_001204.7(BMPR2):c.2396dup (p.His800fs)
|
rs2105712163
|
|
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs)
|
rs1085307383
|
|
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)
|
rs2105712248
|
|
NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs)
|
rs2105712268
|
|
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)
|
rs1085307197
|
|
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter)
|
rs1085307198
|
|
NM_001204.7(BMPR2):c.2580del (p.Asn861fs)
|
rs1085307395
|
|
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)
|
rs137852748
|
|
NM_001204.7(BMPR2):c.2651_2652insAT (p.Asp885fs)
|
rs2105712531
|
|
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)
|
rs137852741
|
|
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter)
|
rs1085307400
|
|
NM_001204.7(BMPR2):c.2952del (p.Trp984fs)
|
rs2105716153
|
|
NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp)
|
rs2105962254
|
|
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)
|
rs1085307215
|
|
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)
|
rs1085307216
|
|
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)
|
rs137852743
|
|
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)
|
rs137852750
|
|
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)
|
rs863223426
|
|
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter)
|
rs1085307152
|
|
NM_001204.7(BMPR2):c.419-1G>T
|
rs2106002050
|
|
NM_001204.7(BMPR2):c.419-38del
|
rs10714063
|
|
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)
|
rs869025366
|
|
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter)
|
rs1085307153
|
|
NM_001204.7(BMPR2):c.529+1G>A
|
rs1553508187
|
|
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)
|
rs1574486033
|
|
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)
|
rs137852753
|
|
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)
|
rs886041324
|
|
NM_001204.7(BMPR2):c.76+1G>A
|
rs1085307155
|
|
NM_001204.7(BMPR2):c.76+2T>C
|
rs1085307156
|
|
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)
|
rs863223419
|
|
NM_001204.7(BMPR2):c.852+1G>A
|
rs1085307266
|
|
NM_001204.7(BMPR2):c.853-1G>A
|
rs1085307267
|
|
NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro)
|
rs2106008434
|
|
NM_001204.7(BMPR2):c.947A>G (p.His316Arg)
|
rs2106008443
|
|
NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn)
|
rs2106008499
|
|
NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro)
|
rs2106018078
|
|
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
|
rs751046231
|
|
NM_001321120.2(TBX4):c.-3-581G>A
|
rs947798202
|
|
NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter)
|
rs2143862882
|
|
NM_001321120.2(TBX4):c.1021+1G>A
|
rs1428934331
|
|
NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro)
|
rs2143862912
|
|
NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys)
|
rs767227688
|
|
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)
|
rs1603256040
|
|
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter)
|
rs2143870166
|
|
NM_001321120.2(TBX4):c.1077del (p.Ser360fs)
|
rs1555883805
|
|
NM_001321120.2(TBX4):c.1115del (p.Pro372fs)
|
rs754897911
|
|
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)
|
rs754897911
|
|
NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter)
|
rs1183527120
|
|
NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter)
|
rs1183527120
|
|
NM_001321120.2(TBX4):c.113dup (p.Leu39fs)
|
rs2143792404
|
|
NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs)
|
rs1603256095
|
|
NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs)
|
rs2143870712
|
|
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs)
|
rs1569046598
|
|
NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro)
|
rs2143870757
|
|
NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln)
|
rs1224135577
|
|
NM_001321120.2(TBX4):c.1354A>G (p.Met452Val)
|
rs2143871702
|
|
NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs)
|
rs2143872061
|
|
NM_001321120.2(TBX4):c.143dup (p.Pro50fs)
|
rs1414958198
|
|
NM_001321120.2(TBX4):c.1461dup (p.Pro488fs)
|
rs2143872274
|
|
NM_001321120.2(TBX4):c.146del (p.Gly49fs)
|
rs2143792571
|
|
NM_001321120.2(TBX4):c.150del (p.Ala52fs)
|
rs2143792602
|
|
NM_001321120.2(TBX4):c.153_181del (p.Val54fs)
|
rs2143792619
|
|
NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys)
|
rs2143872706
|
|
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)
|
rs28936696
|
|
NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)
|
rs2143792797
|
|
NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs)
|
rs2143792897
|
|
NM_001321120.2(TBX4):c.210dup (p.Leu71fs)
|
rs2143795994
|
|
NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg)
|
rs2143796152
|
|
NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter)
|
rs2143796161
|
|
NM_001321120.2(TBX4):c.251del (p.Gly84fs)
|
rs1603248606
|
|
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys)
|
rs2143820885
|
|
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)
|
rs2143820895
|
|
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg)
|
rs1555882009
|
|
NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)
|
rs1555882009
|
|
NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)
|
rs2143820920
|
|
NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu)
|
rs2143820942
|
|
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)
|
rs2143821059
|
|
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)
|
rs2143821228
|
|
NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser)
|
rs2143821238
|
|
NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser)
|
rs2143821275
|
|
NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)
|
rs1603248167
|
|
NM_001321120.2(TBX4):c.432G>T (p.Met144Ile)
|
rs777426077
|
|
NM_001321120.2(TBX4):c.500_502del (p.Ser167del)
|
rs2143825874
|
|
NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1])
|
rs2143825901
|
|
NM_001321120.2(TBX4):c.524_527del (p.Asn175fs)
|
rs2143825923
|
|
NM_001321120.2(TBX4):c.529C>T (p.His177Tyr)
|
rs2143825981
|
|
NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser)
|
rs2143826017
|
|
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)
|
rs1555882291
|
|
NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs)
|
rs2143856709
|
|
NM_001321120.2(TBX4):c.569A>C (p.His190Pro)
|
rs2143856758
|
|
NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)
|
rs2143856765
|
|
NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter)
|
rs1209188502
|
|
NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)
|
rs747369610
|
|
NM_001321120.2(TBX4):c.664del (p.Thr222fs)
|
rs2143857127
|
|
NM_001321120.2(TBX4):c.670_672del (p.Phe224del)
|
rs1555883338
|
|
NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr)
|
rs2143857179
|
|
NM_001321120.2(TBX4):c.702+1G>A
|
rs1555883342
|
|
NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr)
|
rs2143860870
|
|
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp)
|
rs2143860927
|
|
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)
|
rs1555883469
|
|
NM_001321120.2(TBX4):c.789del (p.Ser264fs)
|
rs2143861174
|
|
NM_001321120.2(TBX4):c.792-1G>C
|
rs1603255224
|
|
NM_001321120.2(TBX4):c.847dup (p.Gln283fs)
|
rs766300906
|
|
NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter)
|
rs2143862349
|
|
NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)
|
rs2060654004
|
|
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter)
|
rs202061937
|
|
NM_001321120.2(TBX4):c.972del (p.Thr326fs)
|
rs1603255327
|
|
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr)
|
rs150233337
|
|
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)
|
rs2108829926
|
|
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met)
|
rs1489314131
|
|
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs)
|
rs746602775
|
|
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter)
|
rs200914446
|
|
NM_001697.3(ATP5PO):c.87+3A>G
|
rs1987287870
|
|
NM_004329.3(BMPR1A):c.1128del (p.Cys377fs)
|
rs2133593822
|
|
NM_004329.3(BMPR1A):c.1141dup (p.Leu381fs)
|
rs2133593957
|
|
NM_004329.3(BMPR1A):c.1172C>A (p.Thr391Lys)
|
rs1589292560
|
|
NM_004329.3(BMPR1A):c.117del (p.Asp40fs)
|
rs2133394844
|
|
NM_004329.3(BMPR1A):c.118dup (p.Asp40fs)
|
rs2133394924
|
|
NM_004329.3(BMPR1A):c.1191_1192del (p.Leu398fs)
|
rs2133606112
|
|
NM_004329.3(BMPR1A):c.1197del (p.Asn399fs)
|
rs2133606200
|
|
NM_004329.3(BMPR1A):c.1233_1236dup (p.Leu413fs)
|
rs2133606816
|
|
NM_004329.3(BMPR1A):c.1250_1253del (p.Leu417fs)
|
rs2133607230
|
|
NM_004329.3(BMPR1A):c.137dup (p.Asn46fs)
|
rs2133395223
|
|
NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro)
|
rs1554891611
|
|
NM_004329.3(BMPR1A):c.1468G>A (p.Asp490Asn)
|
rs2133622472
|
|
NM_004329.3(BMPR1A):c.1549del (p.Ile517fs)
|
rs2133625142
|
|
NM_004329.3(BMPR1A):c.165dup (p.Pro57fs)
|
rs2133395676
|
|
NM_004329.3(BMPR1A):c.199dup (p.Cys67fs)
|
rs2133396260
|
|
NM_004329.3(BMPR1A):c.201T>G (p.Cys67Trp)
|
rs1843127956
|
|
NM_004329.3(BMPR1A):c.203del (p.Pro68fs)
|
rs2133396343
|
|
NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr)
|
rs1589763471
|
|
NM_004329.3(BMPR1A):c.211del (p.Ala71fs)
|
rs2133396549
|
|
NM_004329.3(BMPR1A):c.258del (p.Ile86fs)
|
rs2133408025
|
|
NM_004329.3(BMPR1A):c.277dup (p.Glu93fs)
|
rs2133408360
|
|
NM_004329.3(BMPR1A):c.279_280del (p.Glu93fs)
|
rs2133408386
|
|
NM_004329.3(BMPR1A):c.345del (p.Ala116fs)
|
rs2133453304
|
|
NM_004329.3(BMPR1A):c.452_453del (p.Ile151fs)
|
rs2133456350
|
|
NM_004329.3(BMPR1A):c.524del (p.Cys175fs)
|
rs2133457979
|
|
NM_004329.3(BMPR1A):c.53_64del (p.Ile18_Gln22delinsLys)
|
rs2133321799
|
|
NM_004329.3(BMPR1A):c.544_545del (p.Ser182fs)
|
rs2133543741
|
|
NM_004329.3(BMPR1A):c.688A>T (p.Ile230Phe)
|
rs730881433
|
|
NM_004329.3(BMPR1A):c.689_690del (p.Ile230fs)
|
rs2133574639
|
|
NM_004329.3(BMPR1A):c.697del (p.Gln233fs)
|
rs2133574820
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
NM_004329.3(BMPR1A):c.7del (p.Gln3fs)
|
rs2133321013
|
|
NM_004329.3(BMPR1A):c.835dup (p.Gln279fs)
|
rs2133577380
|
|
NM_004329.3(BMPR1A):c.862dup (p.Ile288fs)
|
rs2133577795
|
|
NM_004329.3(BMPR1A):c.872dup (p.Ile292fs)
|
rs2133588875
|
|
NM_004329.3(BMPR1A):c.893G>A (p.Gly298Asp)
|
rs2133589292
|
|
NM_004329.3(BMPR1A):c.894_895dup (p.Thr299fs)
|
rs2133589338
|
|
NM_004329.3(BMPR1A):c.918_921del (p.Leu305_Tyr306insTer)
|
rs2133589848
|
|
NM_004329.3(BMPR1A):c.942_943insA (p.Gly315fs)
|
rs2133590212
|
|
NM_004329.3(BMPR1A):c.969dup (p.Ala324fs)
|
rs2133590855
|
|
NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe)
|
rs2133591377
|
|
NM_006035.4(CDC42BPB):c.1630dup (p.Glu544fs)
|
rs1595482918
|
|
NM_006035.4(CDC42BPB):c.2290C>T (p.Arg764Ter)
|
rs1595476797
|
|
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)
|
rs1595472764
|
|
NM_006035.4(CDC42BPB):c.2612T>C (p.Leu871Pro)
|
rs1595472756
|
|
NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp)
|
rs1595472741
|
|
NM_006035.4(CDC42BPB):c.2627G>C (p.Arg876Pro)
|
rs1595472739
|
|
NM_006035.4(CDC42BPB):c.37_50del (p.Leu13fs)
|
rs1595208914
|
|
NM_006035.4(CDC42BPB):c.3896G>A (p.Arg1299Gln)
|
rs1595450393
|
|
NM_006035.4(CDC42BPB):c.4049G>C (p.Arg1350Pro)
|
rs1595450125
|
|
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)
|
rs1595127294
|
|
NM_006035.4(CDC42BPB):c.879C>G (p.Ile293Met)
|
rs1016320330
|
|
NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu)
|
rs1230283665
|
|
NM_006295.3(VARS1):c.65C>A (p.Ala22Asp)
|
rs1268435074
|
|
NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
|
|
|
NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)
|
|
|
NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)
|
|
|
NM_017934.7(PHIP):c.1463A>T (p.Asp488Val)
|
rs2127740526
|
|
NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)
|
|
|
NM_017934.7(PHIP):c.1523dup (p.Met508fs)
|
|
|
NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
|
|
|
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg)
|
rs1562171209
|
|
NM_017934.7(PHIP):c.1654-2A>C
|
|
|
NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)
|
|
|
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
|
|
|
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs)
|
rs1562150844
|
|
NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly)
|
rs2127714980
|
|
NM_017934.7(PHIP):c.2890-2A>G
|
|
|
NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)
|
|
|
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)
|
rs1562134961
|
|
NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)
|
|
|
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
|
|
|
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
|
|
|
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)
|
rs1562127631
|
|
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)
|
rs1766794792
|
|
NM_017934.7(PHIP):c.3782+3_3782+6del
|
rs1131691771
|
|
NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)
|
|
|
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
|
|
|
NM_017934.7(PHIP):c.41-7C>A
|
|
|
NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)
|
|
|
NM_017934.7(PHIP):c.439+5G>T
|
|
|
NM_017934.7(PHIP):c.4570del (p.Ser1524fs)
|
rs1562114190
|
|
NM_017934.7(PHIP):c.4979del (p.Gly1660fs)
|
|
|
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs)
|
rs1562203136
|
|
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs)
|
rs1554210073
|
|
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu)
|
rs755604487
|
|
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)
|
|
|
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)
|
rs1085307845
|
|
NM_198565.3(NRROS):c.1222A>C (p.Asn408His)
|
rs2108643995
|
|