NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)
|
rs765887545
|
0.00001
|
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs)
|
rs1560082927
|
0.00001
|
NC_000002.12:g.202369396_202377723del
|
|
|
NC_000002.12:g.202373247_202381017del
|
|
|
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)
|
rs1592224412
|
|
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter)
|
rs1592222308
|
|
NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)
|
|
|
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)
|
rs1085307163
|
|
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro)
|
rs1085307289
|
|
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)
|
rs1085307290
|
|
NM_001204.7(BMPR2):c.1128+2T>G
|
rs1574493841
|
|
NM_001204.7(BMPR2):c.1169del (p.Gly390fs)
|
|
|
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter)
|
rs1085307315
|
|
NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg)
|
rs1085307316
|
|
NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter)
|
rs1574494632
|
|
NM_001204.7(BMPR2):c.1245_1246dup (p.Ile416fs)
|
rs1553509997
|
|
NM_001204.7(BMPR2):c.1355_1356dup (p.Val453fs)
|
rs1574500018
|
|
NM_001204.7(BMPR2):c.1371dup (p.Gln458fs)
|
rs1085307340
|
|
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)
|
rs1060502576
|
|
NM_001204.7(BMPR2):c.1413+1G>A
|
rs1085307349
|
|
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)
|
rs1085307352
|
|
NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter)
|
rs1574505253
|
|
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly)
|
rs137852745
|
|
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.156_157del (p.Ser52_His53insTer)
|
rs1085307169
|
|
NM_001204.7(BMPR2):c.1644del (p.Ser549fs)
|
|
|
NM_001204.7(BMPR2):c.186dup (p.Gly63fs)
|
rs863223423
|
|
NM_001204.7(BMPR2):c.189dup (p.Ser64Ter)
|
|
|
NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs)
|
rs1574506729
|
|
NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs)
|
rs1574506732
|
|
NM_001204.7(BMPR2):c.19del (p.Arg7fs)
|
rs1574415785
|
|
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)
|
rs1085307177
|
|
NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter)
|
rs1574506790
|
|
NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs)
|
rs1574506799
|
|
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp)
|
rs1085307180
|
|
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter)
|
rs1574506914
|
|
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)
|
rs137852742
|
|
NM_001204.7(BMPR2):c.2245dup (p.Gln749fs)
|
rs1574506976
|
|
NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs)
|
rs1574507076
|
|
NM_001204.7(BMPR2):c.2426dup (p.Ala810fs)
|
rs1574507124
|
|
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter)
|
rs1085307184
|
|
NM_001204.7(BMPR2):c.247+1G>A
|
rs1085307188
|
|
NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter)
|
rs1574507215
|
|
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)
|
rs1085307197
|
|
NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter)
|
|
|
NM_001204.7(BMPR2):c.2533del (p.Glu845fs)
|
rs1574507268
|
|
NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter)
|
rs1574507276
|
|
NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer)
|
rs1574507290
|
|
NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs)
|
rs1574507331
|
|
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)
|
rs137852748
|
|
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)
|
rs137852741
|
|
NM_001204.7(BMPR2):c.26_41del (p.Trp9fs)
|
rs1574415799
|
|
NM_001204.7(BMPR2):c.274del (p.Gln92fs)
|
rs1574464060
|
|
NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)
|
rs1085307149
|
|
NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg)
|
rs1085307203
|
|
NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly)
|
rs1085307203
|
|
NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter)
|
rs749485755
|
|
NM_001204.7(BMPR2):c.314del (p.Pro105fs)
|
rs1574464121
|
|
NM_001204.7(BMPR2):c.344dup (p.Cys116fs)
|
rs1574464150
|
|
NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg)
|
rs1574464160
|
|
NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly)
|
rs1085307214
|
|
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)
|
rs137852750
|
|
NM_001204.7(BMPR2):c.371dup (p.Asn124fs)
|
rs1085307222
|
|
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)
|
rs863223426
|
|
NM_001204.7(BMPR2):c.399del (p.Pro134fs)
|
rs1085307223
|
|
NM_001204.7(BMPR2):c.408_412del (p.Pro138fs)
|
rs1085307225
|
|
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)
|
rs869025366
|
|
NM_001204.7(BMPR2):c.449dup (p.Ile151fs)
|
rs1085307234
|
|
NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter)
|
rs1574485996
|
|
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)
|
rs1085307154
|
|
NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs)
|
rs1574486497
|
|
NM_001204.7(BMPR2):c.612del (p.Lys204fs)
|
rs1085307246
|
|
NM_001204.7(BMPR2):c.619dup (p.Glu207fs)
|
rs1574486566
|
|
NM_001204.7(BMPR2):c.621+1G>A
|
rs1553508321
|
|
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.657del (p.Gly220fs)
|
rs1574488314
|
|
NM_001204.7(BMPR2):c.683del (p.Ala228fs)
|
rs1574488346
|
|
NM_001204.7(BMPR2):c.687_693del (p.Lys230fs)
|
rs1574488353
|
|
NM_001204.7(BMPR2):c.691del (p.Val231fs)
|
rs1574488357
|
|
NM_001204.7(BMPR2):c.761_762del (p.His254fs)
|
rs1574488412
|
|
NM_001204.7(BMPR2):c.77-3572_418+119del
|
|
|
NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter)
|
rs1414031345
|
|
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs)
|
rs1085307261
|
|
NM_001204.7(BMPR2):c.823dup (p.Tyr275fs)
|
rs1574488484
|
|
NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter)
|
rs1574488490
|
|
NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter)
|
rs863223419
|
|
NM_001204.7(BMPR2):c.852_852+1insA
|
rs1574488501
|
|
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter)
|
rs576091247
|
|
NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs)
|
rs1574462520
|
|
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)
|
rs1060502581
|
|
NM_001204.7(BMPR2):c.967+4del
|
rs1085307278
|
|
NM_001204.7(BMPR2):c.968-1G>T
|
rs1085307282
|
|
NM_001204.7(BMPR2):c.978del (p.Lys326fs)
|
|
|
NM_001204.7(BMPR2):c.992A>G (p.His331Arg)
|
rs1085307285
|
|
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)
|
rs137852751
|
|
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs)
|
rs746602775
|
|
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter)
|
rs200914446
|
|
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter)
|
rs2129277991
|
|
Single allele
|
|
|