NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=)
|
rs116240595
|
0.00915
|
NM_000020.3(ACVRL1):c.*1041G>T
|
rs199949661
|
0.00887
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn)
|
rs142402214
|
0.00096
|
NM_002890.3(RASA1):c.360C>A (p.Pro120=)
|
rs137878395
|
0.00061
|
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val)
|
rs55720981
|
0.00059
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_000020.3(ACVRL1):c.-129G>A
|
rs886049607
|
0.00032
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
NM_001114753.3(ENG):c.1533G>A (p.Ala511=)
|
rs140760635
|
0.00027
|
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser)
|
rs192640017
|
0.00021
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn)
|
rs137873272
|
0.00014
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_000020.3(ACVRL1):c.*132G>A
|
rs867355962
|
0.00012
|
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)
|
rs180821007
|
0.00010
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
|
rs367991324
|
0.00009
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)
|
rs369146413
|
0.00006
|
NM_001114753.3(ENG):c.360C>T (p.Tyr120=)
|
rs121918402
|
0.00006
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_000020.3(ACVRL1):c.*1107G>T
|
rs1459562251
|
0.00003
|
NM_000020.3(ACVRL1):c.*2268G>C
|
rs929096514
|
0.00003
|
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
|
rs1231598304
|
0.00003
|
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)
|
rs750115837
|
0.00003
|
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)
|
rs780987528
|
0.00003
|
NM_016204.4(GDF2):c.732C>T (p.Val244=)
|
rs145385373
|
0.00003
|
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)
|
rs781770577
|
0.00002
|
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
|
rs778058646
|
0.00002
|
NM_001114753.3(ENG):c.1876G>A (p.Val626Met)
|
rs745843047
|
0.00002
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)
|
rs755962839
|
0.00001
|
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
|
rs759341808
|
0.00001
|
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)
|
rs201031046
|
0.00001
|
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)
|
rs768873662
|
0.00001
|
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
|
rs770290260
|
0.00001
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
0.00001
|
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)
|
rs1204340475
|
0.00001
|
NM_016204.4(GDF2):c.1281G>T (p.Gly427=)
|
rs781842184
|
0.00001
|
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)
|
rs782796080
|
0.00001
|
NM_000020.3(ACVRL1):c.*131C>T
|
rs886049610
|
|
NM_000020.3(ACVRL1):c.*205G>A
|
rs886049612
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln)
|
rs1565595070
|
|
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
|
rs56301903
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)
|
rs1940782114
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_000118.3(ENG):c.-339C>T
|
rs554349374
|
|
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
|
rs892005175
|
|
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)
|
rs760446518
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1853-14GCTCCC[3]
|
rs373296026
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.387G>A (p.Glu129=)
|
rs1588583668
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)
|
rs2131890408
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)
|
rs1064794220
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
|
rs1830569895
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)
|
rs863223718
|
|
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
|
rs764720303
|
|
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)
|
rs2112495755
|
|
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)
|
rs1060503440
|
|
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)
|
rs1060503441
|
|
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)
|
rs1554044823
|
|