NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_001202.6(BMP4):c.*88C>T
|
rs74054236
|
0.04584
|
NM_001202.6(BMP4):c.-146T>C
|
rs73267467
|
0.01302
|
NM_001202.6(BMP4):c.370+28G>A
|
rs72680532
|
0.00883
|
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)
|
rs201156596
|
0.00425
|
NM_001202.6(BMP4):c.*28A>T
|
rs185647938
|
0.00213
|
NM_001202.6(BMP4):c.228T>A (p.Ser76Arg)
|
rs114957446
|
0.00211
|
NM_001202.6(BMP4):c.76T>C (p.Leu26=)
|
rs74486266
|
0.00205
|
NM_001202.6(BMP4):c.*148A>T
|
rs76335800
|
0.00184
|
NM_003352.8(SUMO1):c.*776A>T
|
rs72923015
|
0.00156
|
NM_001202.6(BMP4):c.860G>A (p.Arg287His)
|
rs121912768
|
0.00082
|
NM_003352.8(SUMO1):c.*884A>G
|
rs555380378
|
0.00070
|
NM_003352.8(SUMO1):c.-32T>G
|
rs182338962
|
0.00062
|
NM_001202.6(BMP4):c.345C>T (p.Asn115=)
|
rs143687498
|
0.00050
|
NM_001202.6(BMP4):c.-155G>A
|
rs540859284
|
0.00044
|
NM_001202.6(BMP4):c.*143A>T
|
rs750395429
|
0.00042
|
NM_138281.3(DLX4):c.204C>T (p.Ser68=)
|
rs200579401
|
0.00041
|
NM_003352.8(SUMO1):c.*944G>C
|
rs537401465
|
0.00028
|
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)
|
rs140920120
|
0.00026
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
NM_001202.6(BMP4):c.*251C>T
|
rs573118445
|
0.00021
|
NM_003352.8(SUMO1):c.*475A>G
|
rs754482827
|
0.00020
|
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)
|
rs121912767
|
0.00018
|
NM_001202.6(BMP4):c.*131A>T
|
rs76149166
|
0.00015
|
NM_001202.6(BMP4):c.362A>G (p.His121Arg)
|
rs376960358
|
0.00015
|
NM_001202.6(BMP4):c.673A>G (p.Thr225Ala)
|
rs144556455
|
0.00014
|
NM_001202.6(BMP4):c.394A>G (p.Thr132Ala)
|
rs199935719
|
0.00012
|
NM_001202.6(BMP4):c.668G>A (p.Arg223His)
|
rs766285160
|
0.00012
|
NM_001202.6(BMP4):c.806G>A (p.Arg269Gln)
|
rs534215890
|
0.00009
|
NM_001202.6(BMP4):c.-329T>C
|
rs956749737
|
0.00008
|
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)
|
rs182373336
|
0.00008
|
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg)
|
rs373924774
|
0.00007
|
NM_001202.6(BMP4):c.-251C>G
|
rs1023300708
|
0.00005
|
NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser)
|
rs546306238
|
0.00004
|
NM_001202.6(BMP4):c.252G>A (p.Arg84=)
|
rs781435238
|
0.00004
|
NM_001202.6(BMP4):c.305C>T (p.Thr102Ile)
|
rs371239780
|
0.00004
|
NM_001202.6(BMP4):c.485G>A (p.Arg162Gln)
|
rs770493925
|
0.00004
|
NM_001202.6(BMP4):c.677G>A (p.Arg226Gln)
|
rs538330477
|
0.00004
|
NM_001202.6(BMP4):c.751C>T (p.His251Tyr)
|
rs200671094
|
0.00004
|
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)
|
rs370847935
|
0.00004
|
NM_003352.8(SUMO1):c.-83A>G
|
rs535659845
|
0.00004
|
NM_003352.8(SUMO1):c.88-8C>T
|
rs778978037
|
0.00004
|
NM_001202.6(BMP4):c.*272A>G
|
rs568281464
|
0.00003
|
NM_001202.6(BMP4):c.-342G>A
|
rs778139957
|
0.00003
|
NM_001202.6(BMP4):c.450C>T (p.Asn150=)
|
rs767216159
|
0.00003
|
NM_001202.6(BMP4):c.475C>T (p.Arg159Trp)
|
rs774455359
|
0.00003
|
NM_001202.6(BMP4):c.753T>C (p.His251=)
|
rs1460775726
|
0.00003
|
NM_001202.6(BMP4):c.93G>C (p.Gly31=)
|
rs375563326
|
0.00003
|
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)
|
rs104893854
|
0.00003
|
NM_003352.8(SUMO1):c.*545G>T
|
rs747664973
|
0.00003
|
NM_001202.6(BMP4):c.1032A>G (p.Pro344=)
|
rs1191198347
|
0.00002
|
NM_001202.6(BMP4):c.1223G>A (p.Arg408His)
|
rs750868626
|
0.00002
|
NM_001202.6(BMP4):c.935C>T (p.Ser312Leu)
|
rs778093557
|
0.00002
|
NM_003352.8(SUMO1):c.-94G>A
|
rs554078545
|
0.00002
|
NM_001202.6(BMP4):c.*31T>A
|
rs374037026
|
0.00001
|
NM_001202.6(BMP4):c.1179A>G (p.Val393=)
|
rs1375945940
|
0.00001
|
NM_001202.6(BMP4):c.118G>A (p.Gly40Ser)
|
rs749083527
|
0.00001
|
NM_001202.6(BMP4):c.17G>A (p.Arg6Gln)
|
rs377379589
|
0.00001
|
NM_001202.6(BMP4):c.215A>G (p.Gln72Arg)
|
rs771047931
|
0.00001
|
NM_001202.6(BMP4):c.224A>G (p.Lys75Arg)
|
rs777501416
|
0.00001
|
NM_001202.6(BMP4):c.315G>A (p.Glu105=)
|
rs774069849
|
0.00001
|
NM_001202.6(BMP4):c.348C>T (p.Thr116=)
|
rs909451835
|
0.00001
|
NM_001202.6(BMP4):c.351G>A (p.Val117=)
|
rs967937256
|
0.00001
|
NM_001202.6(BMP4):c.357C>T (p.Ser119=)
|
rs757681410
|
0.00001
|
NM_001202.6(BMP4):c.481T>C (p.Phe161Leu)
|
rs749431429
|
0.00001
|
NM_001202.6(BMP4):c.624T>C (p.Asn208=)
|
rs770637496
|
0.00001
|
NM_002448.3(MSX1):c.251A>T (p.Glu84Val)
|
rs28928890
|
0.00001
|
NM_003352.8(SUMO1):c.*724A>G
|
rs886055457
|
0.00001
|
NM_003352.8(SUMO1):c.*814G>A
|
rs753364030
|
0.00001
|
46,XX,t(2;8)(q33.1;q24.3)
|
|
|
NC_000014.8:g.(?_54416336)_54418690del
|
|
|
NC_000014.8:g.(?_54416750)_(55369403_?)del
|
|
|
NM_001202.6(BMP4):c.*149G>A
|
rs74495140
|
|
NM_001202.6(BMP4):c.*254A>T
|
rs1895269405
|
|
NM_001202.6(BMP4):c.*35C>G
|
rs886050540
|
|
NM_001202.6(BMP4):c.-7-159T>G
|
rs35107139
|
|
NM_001202.6(BMP4):c.-7-163C>G
|
rs10130587
|
|
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val)
|
rs121912766
|
|
NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)
|
|
|
NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)
|
|
|
NM_001202.6(BMP4):c.1209G>A (p.Glu403=)
|
|
|
NM_001202.6(BMP4):c.123C>T (p.His41=)
|
|
|
NM_001202.6(BMP4):c.153T>G (p.His51Gln)
|
rs950786038
|
|
NM_001202.6(BMP4):c.159C>T (p.Leu53=)
|
rs1337409637
|
|
NM_001202.6(BMP4):c.163C>T (p.Arg55Trp)
|
|
|
NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)
|
|
|
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)
|
|
|
NM_001202.6(BMP4):c.171C>G (p.Phe57Leu)
|
|
|
NM_001202.6(BMP4):c.180A>G (p.Thr60=)
|
|
|
NM_001202.6(BMP4):c.184C>G (p.Leu62Val)
|
rs2140238102
|
|
NM_001202.6(BMP4):c.200T>A (p.Leu67Gln)
|
rs2140238068
|
|
NM_001202.6(BMP4):c.205_214del (p.Arg69fs)
|
rs2140238013
|
|
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
|
|
|
NM_001202.6(BMP4):c.220A>G (p.Ser74Gly)
|
rs1006741808
|
|
NM_001202.6(BMP4):c.231C>T (p.Ala77=)
|
|
|
NM_001202.6(BMP4):c.240G>T (p.Pro80=)
|
rs747861439
|
|
NM_001202.6(BMP4):c.250C>T (p.Arg84Trp)
|
|
|
NM_001202.6(BMP4):c.251G>A (p.Arg84Gln)
|
|
|
NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)
|
|
|
NM_001202.6(BMP4):c.280G>A (p.Glu94Lys)
|
|
|
NM_001202.6(BMP4):c.288A>G (p.Glu96=)
|
rs886050541
|
|
NM_001202.6(BMP4):c.291G>A (p.Glu97=)
|
rs1426072881
|
|
NM_001202.6(BMP4):c.293A>G (p.Gln98Arg)
|
|
|
NM_001202.6(BMP4):c.295A>G (p.Ile99Val)
|
rs1417794324
|
|
NM_001202.6(BMP4):c.348C>G (p.Thr116=)
|
|
|
NM_001202.6(BMP4):c.361C>T (p.His121Tyr)
|
rs754308298
|
|
NM_001202.6(BMP4):c.370+12C>T
|
rs368426865
|
|
NM_001202.6(BMP4):c.370+160C>T
|
rs2071047
|
|
NM_001202.6(BMP4):c.370+19T>C
|
|
|
NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)
|
|
|
NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)
|
|
|
NM_001202.6(BMP4):c.416G>A (p.Arg139His)
|
|
|
NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)
|
|
|
NM_001202.6(BMP4):c.426T>A (p.Phe142Leu)
|
rs1895364575
|
|
NM_001202.6(BMP4):c.430C>G (p.Leu144Val)
|
|
|
NM_001202.6(BMP4):c.436A>G (p.Ser146Gly)
|
rs1819759617
|
|
NM_001202.6(BMP4):c.442C>T (p.Pro148Ser)
|
|
|
NM_001202.6(BMP4):c.451G>A (p.Glu151Lys)
|
|
|
NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)
|
|
|
NM_001202.6(BMP4):c.476G>A (p.Arg159Gln)
|
|
|
NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)
|
|
|
NM_001202.6(BMP4):c.510T>C (p.Asp170=)
|
rs747360940
|
|
NM_001202.6(BMP4):c.519G>A (p.Arg173=)
|
|
|
NM_001202.6(BMP4):c.521G>A (p.Gly174Asp)
|
|
|
NM_001202.6(BMP4):c.530G>A (p.Arg177His)
|
|
|
NM_001202.6(BMP4):c.560C>T (p.Pro187Leu)
|
|
|
NM_001202.6(BMP4):c.568G>A (p.Val190Met)
|
rs759277724
|
|
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)
|
rs387906597
|
|
NM_001202.6(BMP4):c.605C>T (p.Thr202Met)
|
|
|
NM_001202.6(BMP4):c.615C>A (p.Val205=)
|
|
|
NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)
|
|
|
NM_001202.6(BMP4):c.63G>A (p.Ala21=)
|
|
|
NM_001202.6(BMP4):c.63G>C (p.Ala21=)
|
|
|
NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)
|
|
|
NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)
|
|
|
NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)
|
|
|
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
|
|
|
NM_001202.6(BMP4):c.762T>C (p.Ile254=)
|
|
|
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)
|
|
|
NM_001202.6(BMP4):c.810C>A (p.Pro270=)
|
|
|
NM_001202.6(BMP4):c.813C>T (p.Leu271=)
|
|
|
NM_001202.6(BMP4):c.817G>C (p.Val273Leu)
|
|
|
NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)
|
|
|
NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)
|
|
|
NM_001202.6(BMP4):c.857G>A (p.Arg286Gln)
|
rs550226363
|
|
NM_001202.6(BMP4):c.859C>T (p.Arg287Cys)
|
|
|
NM_001202.6(BMP4):c.862C>T (p.Arg288Trp)
|
|
|
NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs)
|
rs1895318709
|
|
NM_001202.6(BMP4):c.89C>T (p.Thr30Met)
|
|
|
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)
|
rs770777693
|
|
NM_001202.6(BMP4):c.954C>T (p.Ser318=)
|
|
|
NM_001202.6(BMP4):c.979G>A (p.Val327Met)
|
rs1159448000
|
|
NM_001202.6(BMP4):c.979G>T (p.Val327Leu)
|
|
|
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)
|
rs28933081
|
|
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)
|
rs150284621
|
|
NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter)
|
rs2108778592
|
|
NM_003352.8(SUMO1):c.*1038C>T
|
rs1692651255
|
|
NM_003352.8(SUMO1):c.*753C>G
|
rs1035640561
|
|
NM_003352.8(SUMO1):c.-48C>T
|
rs976294034
|
|
NM_004360.5(CDH1):c.1926C>A (p.Tyr642Ter)
|
rs1961172043
|
|
NM_004360.5(CDH1):c.895G>A (p.Ala299Thr)
|
rs1960837744
|
|
NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe)
|
rs141653312
|
|
NM_006147.4(IRF6):c.1175T>G (p.Val392Gly)
|
rs1553247688
|
|
NM_006147.4(IRF6):c.273A>T (p.Arg91Ser)
|
rs1553248262
|
|
NM_006147.4(IRF6):c.362G>T (p.Gly121Val)
|
rs1553248247
|
|
NM_006147.4(IRF6):c.443A>G (p.Asp148Gly)
|
rs1553248182
|
|
NM_006147.4(IRF6):c.457T>G (p.Ser153Ala)
|
rs1553248180
|
|
NM_006147.4(IRF6):c.490C>G (p.Pro164Ala)
|
rs1033149441
|
|
NM_006147.4(IRF6):c.514C>T (p.Pro172Ser)
|
rs1553247899
|
|
NM_006147.4(IRF6):c.595G>A (p.Glu199Lys)
|
rs1553247888
|
|
NM_006147.4(IRF6):c.635G>A (p.Ser212Asn)
|
rs1553247880
|
|
NM_138281.3(DLX4):c.546del (p.Gln183fs)
|
rs869025279
|
|