NM_000020.3(ACVRL1):c.*1246T>C
|
rs706819
|
0.71921
|
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=)
|
rs314359
|
0.56302
|
NM_000020.3(ACVRL1):c.314-35A>G
|
rs2071219
|
0.46706
|
NM_000020.3(ACVRL1):c.313+11C>T
|
rs2071218
|
0.45979
|
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=)
|
rs2230585
|
0.32365
|
NM_000020.3(ACVRL1):c.1378-248T>G
|
rs2656315
|
0.32172
|
NM_000020.3(ACVRL1):c.1378-405A>G
|
rs813471
|
0.31751
|
NM_000020.3(ACVRL1):c.1377+45T>C
|
rs706815
|
0.31560
|
NM_000020.3(ACVRL1):c.1377+65A>G
|
rs706816
|
0.31557
|
NM_000020.3(ACVRL1):c.*560T>C
|
rs706818
|
0.31441
|
NM_001114753.3(ENG):c.1687-117G>A
|
rs1330684
|
0.28944
|
NM_001114753.3(ENG):c.207G>A (p.Leu69=)
|
rs11545664
|
0.14184
|
NM_000020.3(ACVRL1):c.*1926T>C
|
rs2293094
|
0.13660
|
NM_000020.3(ACVRL1):c.1378-699C>T
|
rs74094825
|
0.13248
|
NM_000020.3(ACVRL1):c.*869C>T
|
rs113690319
|
0.12912
|
NM_000020.3(ACVRL1):c.*913C>T
|
rs75074181
|
0.12876
|
NM_000020.3(ACVRL1):c.*2398G>A
|
rs2293092
|
0.11085
|
NM_004444.5(EPHB4):c.1422+3A>G
|
rs3857809
|
0.08906
|
NM_000020.3(ACVRL1):c.-5-227C>G
|
rs2277381
|
0.08706
|
NM_000020.3(ACVRL1):c.1378-155T>G
|
rs2277383
|
0.08548
|
NM_000020.3(ACVRL1):c.*2380C>G
|
rs2293093
|
0.08542
|
NM_000020.3(ACVRL1):c.625+164T>C
|
rs77709482
|
0.07925
|
NM_000020.3(ACVRL1):c.-5-33C>T
|
rs2277382
|
0.07716
|
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
|
rs3739817
|
0.06792
|
NM_001114753.3(ENG):c.219+25G>T
|
rs7847860
|
0.06245
|
NM_000020.3(ACVRL1):c.*1021T>C
|
rs697631
|
0.05250
|
NM_000020.3(ACVRL1):c.*949C>T
|
rs810052
|
0.05244
|
NM_000020.3(ACVRL1):c.1378-339T>G
|
rs74094826
|
0.05144
|
NM_000020.3(ACVRL1):c.1377+326G>T
|
rs11609817
|
0.04840
|
NM_000020.3(ACVRL1):c.1378-217A>G
|
rs772003
|
0.04704
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_000020.3(ACVRL1):c.747G>A (p.Val249=)
|
rs1058563
|
0.04166
|
NM_000020.3(ACVRL1):c.61+22A>G
|
rs706812
|
0.03730
|
NM_002890.3(RASA1):c.1777-14T>A
|
rs36000817
|
0.03681
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_000020.3(ACVRL1):c.*2313G>A
|
rs61914025
|
0.02816
|
NM_002890.3(RASA1):c.1777-16A>T
|
rs75512926
|
0.02314
|
NM_000020.3(ACVRL1):c.626-53C>T
|
rs111245531
|
0.02158
|
NM_000020.3(ACVRL1):c.*862G>A
|
rs116256992
|
0.02136
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_000020.3(ACVRL1):c.1378-30T>C
|
rs142910573
|
0.02009
|
NM_000020.3(ACVRL1):c.*58G>A
|
rs182368657
|
0.01817
|
NM_000020.3(ACVRL1):c.314-65G>C
|
rs113559681
|
0.01773
|
NM_000020.3(ACVRL1):c.*1560A>C
|
rs80260084
|
0.01740
|
NM_000020.3(ACVRL1):c.*2422A>G
|
rs706820
|
0.01556
|
NM_000020.3(ACVRL1):c.*1776C>T
|
rs78150616
|
0.01548
|
NM_000020.3(ACVRL1):c.1377+636C>T
|
rs706817
|
0.01525
|
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)
|
rs77341011
|
0.01461
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_000020.3(ACVRL1):c.-46C>G
|
rs190953189
|
0.01297
|
NM_000020.3(ACVRL1):c.1378-216C>T
|
rs111710113
|
0.01212
|
NM_000020.3(ACVRL1):c.*935G>C
|
rs116740271
|
0.01206
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_002890.3(RASA1):c.1777-15_1777-14insA
|
rs202147617
|
0.00998
|
NM_000020.3(ACVRL1):c.1378-556C>T
|
rs78740726
|
0.00969
|
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)
|
rs61734313
|
0.00959
|
NM_000020.3(ACVRL1):c.1246+19C>T
|
rs185343653
|
0.00959
|
NM_000020.3(ACVRL1):c.1246+9C>T
|
rs115378744
|
0.00958
|
NM_000020.3(ACVRL1):c.*1041G>T
|
rs199949661
|
0.00887
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_000020.3(ACVRL1):c.62-69G>T
|
rs114852790
|
0.00802
|
NM_001114753.3(ENG):c.1932C>T (p.Ile644=)
|
rs181330955
|
0.00609
|
NM_000020.3(ACVRL1):c.*423C>T
|
rs114741844
|
0.00592
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
NM_000020.3(ACVRL1):c.1378-711C>T
|
rs116778422
|
0.00492
|
NM_000020.3(ACVRL1):c.*499T>G
|
rs572632343
|
0.00446
|
NM_000020.3(ACVRL1):c.772+24C>T
|
rs151169686
|
0.00421
|
NM_000020.3(ACVRL1):c.*992A>G
|
rs567585207
|
0.00409
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_000020.3(ACVRL1):c.*2281G>T
|
rs114323941
|
0.00374
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_002890.3(RASA1):c.304G>T (p.Val102Leu)
|
rs115606026
|
0.00315
|
NM_001114753.3(ENG):c.1452C>T (p.Ser484=)
|
rs115450389
|
0.00311
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)
|
rs146525982
|
0.00278
|
NM_002890.3(RASA1):c.829-12T>A
|
rs187379673
|
0.00276
|
NM_002890.3(RASA1):c.1102+10T>C
|
rs150779406
|
0.00268
|
NM_002890.3(RASA1):c.2691-11C>T
|
rs149730288
|
0.00264
|
NM_002890.3(RASA1):c.1371G>A (p.Lys457=)
|
rs140707293
|
0.00208
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.732C>T (p.Pro244=)
|
rs112262663
|
0.00124
|
NM_002890.3(RASA1):c.384C>T (p.Leu128=)
|
rs34385096
|
0.00121
|
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp)
|
rs146100407
|
0.00117
|
NM_001114753.3(ENG):c.180C>A (p.Ala60=)
|
rs146188464
|
0.00117
|
NM_001114753.3(ENG):c.524-12G>A
|
rs142841129
|
0.00116
|
NM_001114753.3(ENG):c.524-15C>T
|
rs201463582
|
0.00114
|
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
|
rs144456901
|
0.00113
|
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn)
|
rs184201084
|
0.00096
|
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn)
|
rs142402214
|
0.00096
|
NM_000020.3(ACVRL1):c.1378-115T>A
|
rs568821415
|
0.00091
|
NM_001114753.3(ENG):c.225G>A (p.Pro75=)
|
rs116146060
|
0.00091
|
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=)
|
rs140970131
|
0.00090
|
NM_001114753.3(ENG):c.1419C>T (p.Ser473=)
|
rs561818608
|
0.00087
|
NM_002890.3(RASA1):c.*164A>G
|
rs112969290
|
0.00085
|
NM_016204.4(GDF2):c.346+10C>T
|
rs117345807
|
0.00081
|
NM_001114753.3(ENG):c.-186G>A
|
rs569618819
|
0.00080
|
NM_001114753.3(ENG):c.-54C>A
|
rs2296702
|
0.00080
|
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala)
|
rs201393380
|
0.00080
|
NM_000020.3(ACVRL1):c.313+40G>C
|
rs376033978
|
0.00078
|
NM_016204.4(GDF2):c.1017C>T (p.Ile339=)
|
rs148730910
|
0.00078
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001114753.3(ENG):c.234G>A (p.Leu78=)
|
rs115675061
|
0.00076
|
NM_001114753.3(ENG):c.816+12G>A
|
rs115316938
|
0.00076
|
NM_001114753.3(ENG):c.-158C>T
|
rs41470844
|
0.00075
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp)
|
rs201502793
|
0.00073
|
NM_002890.3(RASA1):c.1394G>A (p.Arg465His)
|
rs181630831
|
0.00071
|
NM_002890.3(RASA1):c.1103-17C>T
|
rs200562377
|
0.00066
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_002890.3(RASA1):c.360C>A (p.Pro120=)
|
rs137878395
|
0.00061
|
NM_000020.3(ACVRL1):c.1247-15A>G
|
rs186868158
|
0.00056
|
NM_001114753.3(ENG):c.159C>T (p.Cys53=)
|
rs148475405
|
0.00056
|
NM_001114753.3(ENG):c.1407G>A (p.Pro469=)
|
rs41302657
|
0.00048
|
NM_002890.3(RASA1):c.*1001T>C
|
rs536593719
|
0.00048
|
NM_001114753.3(ENG):c.1455G>A (p.Glu485=)
|
rs150456852
|
0.00046
|
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=)
|
rs139008591
|
0.00045
|
NM_001114753.3(ENG):c.1233C>T (p.Ser411=)
|
rs137870512
|
0.00043
|
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)
|
rs145752649
|
0.00043
|
NM_001114753.3(ENG):c.687C>T (p.Ala229=)
|
rs376919650
|
0.00042
|
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
|
rs147005473
|
0.00040
|
NM_016204.4(GDF2):c.34C>T (p.Leu12=)
|
rs61758973
|
0.00040
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)
|
rs146206499
|
0.00031
|
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)
|
rs149664056
|
0.00031
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
NM_002890.3(RASA1):c.2286C>T (p.His762=)
|
rs373059169
|
0.00030
|
NM_016204.4(GDF2):c.615G>A (p.Leu205=)
|
rs141350776
|
0.00029
|
NM_001114753.3(ENG):c.-63C>T
|
rs886063476
|
0.00028
|
NM_001114753.3(ENG):c.1533G>A (p.Ala511=)
|
rs140760635
|
0.00027
|
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=)
|
rs187902433
|
0.00024
|
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=)
|
rs55802125
|
0.00024
|
NM_001114753.3(ENG):c.1742-13C>T
|
rs373611252
|
0.00021
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys)
|
rs752195587
|
0.00016
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
|
rs372453075
|
0.00013
|
NM_001114753.3(ENG):c.360+91C>T
|
rs371908386
|
0.00012
|
NM_002890.3(RASA1):c.1332+8T>C
|
rs376637789
|
0.00012
|
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)
|
rs56379428
|
0.00011
|
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)
|
rs180821007
|
0.00010
|
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg)
|
rs150829904
|
0.00009
|
NM_002890.3(RASA1):c.1494G>A (p.Glu498=)
|
rs200197533
|
0.00009
|
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=)
|
rs774167132
|
0.00008
|
NM_001114753.3(ENG):c.1135-7G>A
|
rs201359896
|
0.00008
|
NM_001114753.3(ENG):c.634G>A (p.Val212Met)
|
rs370652082
|
0.00008
|
NM_001114753.3(ENG):c.690-59C>A
|
rs369047677
|
0.00008
|
NM_000020.3(ACVRL1):c.759C>T (p.His253=)
|
rs374020751
|
0.00006
|
NM_001114753.3(ENG):c.1695T>C (p.His565=)
|
rs750637713
|
0.00006
|
NM_002890.3(RASA1):c.1968A>T (p.Ile656=)
|
rs370819852
|
0.00006
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001114753.3(ENG):c.689+17G>A
|
rs773103359
|
0.00005
|
NM_002890.3(RASA1):c.2259C>T (p.Ala753=)
|
rs552498036
|
0.00005
|
NM_000020.3(ACVRL1):c.526-11C>T
|
rs573934792
|
0.00004
|
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys)
|
rs747481834
|
0.00004
|
NM_001114753.3(ENG):c.1686+19G>A
|
rs201163068
|
0.00004
|
NM_001114753.3(ENG):c.1761C>T (p.Leu587=)
|
rs546872552
|
0.00004
|
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr)
|
rs761827492
|
0.00004
|
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn)
|
rs775160533
|
0.00004
|
NM_016204.4(GDF2):c.73C>T (p.Leu25=)
|
rs200760960
|
0.00004
|
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=)
|
rs150140878
|
0.00003
|
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
|
rs548690138
|
0.00003
|
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu)
|
rs777633247
|
0.00003
|
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
|
rs763087751
|
0.00003
|
NM_001114753.3(ENG):c.69T>C (p.Ser23=)
|
rs202048202
|
0.00003
|
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=)
|
rs3747704
|
0.00003
|
NM_000020.3(ACVRL1):c.61+7A>T
|
rs200221603
|
0.00002
|
NM_001114753.3(ENG):c.1217G>A (p.Arg406His)
|
rs149065210
|
0.00002
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)
|
rs373098580
|
0.00002
|
NM_001114753.3(ENG):c.108C>T (p.Gly36=)
|
rs748898883
|
0.00001
|
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly)
|
rs932659087
|
0.00001
|
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
|
rs532649202
|
0.00001
|
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala)
|
rs1564456742
|
0.00001
|
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
|
rs770290260
|
0.00001
|
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
|
rs770898485
|
0.00001
|
NM_001114753.3(ENG):c.675G>A (p.Pro225=)
|
rs757608428
|
0.00001
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
0.00001
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
|
rs569976773
|
0.00001
|
NC_000012.12:g.51907469G>C
|
rs1002184603
|
|
NM_000020.3(ACVRL1):c.*1042C>G
|
rs56683171
|
|
NM_000020.3(ACVRL1):c.*1042C>T
|
rs56683171
|
|
NM_000020.3(ACVRL1):c.1377+248_1377+251dup
|
rs200979126
|
|
NM_000020.3(ACVRL1):c.1377+249TG[18]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[23]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+745G>A
|
|
|
NM_000020.3(ACVRL1):c.1378-248del
|
rs202089535
|
|
NM_000020.3(ACVRL1):c.1378-49C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG
|
rs1344683257
|
|
NM_000020.3(ACVRL1):c.314-13C>T
|
|
|
NM_000020.3(ACVRL1):c.314-49G>C
|
rs200624173
|
|
NM_000020.3(ACVRL1):c.625+110_625+121del
|
rs1592223149
|
|
NM_000020.3(ACVRL1):c.625+110_625+130del
|
rs67833112
|
|
NM_001114753.3(ENG):c.*320G>A
|
rs41478248
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
NM_001114753.3(ENG):c.1272+20del
|
|
|
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
|
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
|
|
|
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
|
|
|
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
|
|
|
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
|
|
|
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
|
|
|
NM_001114753.3(ENG):c.1687-19CT[2]
|
rs566728279
|
|
NM_001114753.3(ENG):c.1742-16C>T
|
|
|
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
|
|
|
NM_001114753.3(ENG):c.1852+20A>G
|
|
|
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
|
|
|
NM_001114753.3(ENG):c.507C>T (p.Leu169=)
|
rs750014839
|
|
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
|
rs147792018
|
|
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
|
|
|
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
|
|
|
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
|
|
|
NM_001114753.3(ENG):c.816+20C>T
|
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001114753.3(ENG):c.933G>T (p.Val311=)
|
|
|
NM_002890.3(RASA1):c.1333-10dup
|
rs775819060
|
|
NM_002890.3(RASA1):c.1454-7del
|
rs60835976
|
|
NM_002890.3(RASA1):c.1454-7dup
|
rs60835976
|
|
NM_002890.3(RASA1):c.1454-9_1454-7del
|
|
|
NM_002890.3(RASA1):c.1777-3del
|
rs377722838
|
|
NM_002890.3(RASA1):c.1777-3dup
|
rs377722838
|
|
NM_002890.3(RASA1):c.2488-3del
|
|
|
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
|
rs137878395
|
|
NM_002890.3(RASA1):c.612T>C (p.Tyr204=)
|
rs377014568
|
|
NM_002890.3(RASA1):c.693-14dup
|
rs776195697
|
|
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=)
|
rs144173
|
|
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
|
|
|
NM_004444.5(EPHB4):c.52+14C>G
|
rs2304374
|
|
NM_005359.6(SMAD4):c.*5631AC[3]
|
rs368759758
|
|
NM_005359.6(SMAD4):c.*5691_*5693del
|
rs374306389
|
|
NM_005359.6(SMAD4):c.*5863_*5867del
|
rs78989198
|
|
NM_016204.4(GDF2):c.346+18A>G
|
|
|