NM_000020.3(ACVRL1):c.314-35A>G
|
rs2071219
|
0.46706
|
NM_000020.3(ACVRL1):c.313+11C>T
|
rs2071218
|
0.45979
|
NM_001114753.3(ENG):c.207G>A (p.Leu69=)
|
rs11545664
|
0.14184
|
NM_000020.3(ACVRL1):c.1378-155T>G
|
rs2277383
|
0.08548
|
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
|
rs3739817
|
0.06792
|
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_002890.3(RASA1):c.1777-14T>A
|
rs36000817
|
0.03681
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_002890.3(RASA1):c.1777-16A>T
|
rs75512926
|
0.02314
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
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.1378-216C>T
|
rs111710113
|
0.01212
|
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.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_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
NM_000020.3(ACVRL1):c.772+24C>T
|
rs151169686
|
0.00421
|
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.1777-16del
|
rs747412034
|
0.00322
|
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_001114753.3(ENG):c.225G>A (p.Pro75=)
|
rs116146060
|
0.00091
|
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=)
|
rs140970131
|
0.00090
|
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe)
|
rs76038779
|
0.00088
|
NM_001114753.3(ENG):c.1419C>T (p.Ser473=)
|
rs561818608
|
0.00087
|
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_001114753.3(ENG):c.1455G>A (p.Glu485=)
|
rs150456852
|
0.00046
|
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=)
|
rs139008591
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
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.329C>T (p.Ser110Leu)
|
rs143872998
|
0.00041
|
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
|
rs147005473
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_016204.4(GDF2):c.34C>T (p.Leu12=)
|
rs61758973
|
0.00040
|
NM_002890.3(RASA1):c.1935-3T>C
|
rs201249348
|
0.00039
|
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
|
rs145635235
|
0.00038
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_000020.3(ACVRL1):c.666C>T (p.His222=)
|
rs377194545
|
0.00034
|
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)
|
rs141330288
|
0.00034
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
NM_002890.3(RASA1):c.1777-13T>A
|
rs757898803
|
0.00034
|
NM_002890.3(RASA1):c.2926-8C>T
|
rs369251473
|
0.00032
|
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_002890.3(RASA1):c.2487+13T>A
|
rs372369767
|
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_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
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_001114753.3(ENG):c.1095C>T (p.Asp365=)
|
rs142803546
|
0.00026
|
NM_001114753.3(ENG):c.1312-12G>A
|
rs201684408
|
0.00026
|
NM_002890.3(RASA1):c.2766A>T (p.Pro922=)
|
rs137898246
|
0.00025
|
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro)
|
rs145201086
|
0.00025
|
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.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
|
rs151296940
|
0.00024
|
NM_001114753.3(ENG):c.-120G>T
|
rs565259710
|
0.00022
|
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
|
rs375679140
|
0.00021
|
NM_001114753.3(ENG):c.1742-13C>T
|
rs373611252
|
0.00021
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)
|
rs139568056
|
0.00021
|
NM_001114753.3(ENG):c.-70C>T
|
rs562538400
|
0.00020
|
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)
|
rs199542304
|
0.00019
|
NM_001114753.3(ENG):c.1686+6T>G
|
rs369766351
|
0.00019
|
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
|
rs369456364
|
0.00019
|
NM_001114753.3(ENG):c.954G>A (p.Pro318=)
|
rs149590262
|
0.00019
|
NM_001114753.3(ENG):c.1134+9A>T
|
rs200780733
|
0.00018
|
NM_002890.3(RASA1):c.1041A>G (p.Glu347=)
|
rs765138678
|
0.00018
|
NM_016204.4(GDF2):c.315G>A (p.Ala105=)
|
rs145198623
|
0.00018
|
NM_001114753.3(ENG):c.-188G>A
|
rs961480381
|
0.00017
|
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)
|
rs141764916
|
0.00016
|
NM_001114753.3(ENG):c.291G>C (p.Leu97=)
|
rs376641299
|
0.00016
|
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.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn)
|
rs192308897
|
0.00015
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys)
|
rs151119180
|
0.00014
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
|
rs372453075
|
0.00013
|
NM_002890.3(RASA1):c.1254-4A>T
|
rs369061989
|
0.00013
|
NM_001114753.3(ENG):c.306C>T (p.Asn102=)
|
rs148098047
|
0.00012
|
NM_001114753.3(ENG):c.360+91C>T
|
rs371908386
|
0.00012
|
NM_001114753.3(ENG):c.726C>T (p.Cys242=)
|
rs545465750
|
0.00012
|
NM_002890.3(RASA1):c.1332+8T>C
|
rs376637789
|
0.00012
|
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser)
|
rs775315018
|
0.00012
|
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)
|
rs139380315
|
0.00011
|
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)
|
rs56379428
|
0.00011
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
NM_002890.3(RASA1):c.1102+12T>C
|
rs555470550
|
0.00011
|
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)
|
rs113316011
|
0.00011
|
NM_016204.4(GDF2):c.244A>G (p.Arg82Gly)
|
rs559902146
|
0.00011
|
NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr)
|
rs746715195
|
0.00010
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val)
|
rs140786299
|
0.00010
|
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val)
|
rs377550978
|
0.00010
|
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)
|
rs180821007
|
0.00010
|
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=)
|
rs147021958
|
0.00009
|
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)
|
rs141653630
|
0.00009
|
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)
|
rs753792569
|
0.00009
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg)
|
rs150829904
|
0.00009
|
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_002890.3(RASA1):c.1494G>A (p.Glu498=)
|
rs200197533
|
0.00009
|
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)
|
rs138785106
|
0.00009
|
NM_002890.3(RASA1):c.2925+12G>C
|
rs369502267
|
0.00009
|
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)
|
rs371413736
|
0.00009
|
NM_016204.4(GDF2):c.711C>T (p.Cys237=)
|
rs146775536
|
0.00009
|
NM_016204.4(GDF2):c.774C>T (p.Ser258=)
|
rs202125220
|
0.00009
|
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
|
rs200838331
|
0.00009
|
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=)
|
rs774167132
|
0.00008
|
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr)
|
rs761463410
|
0.00008
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001114753.3(ENG):c.1135-7G>A
|
rs201359896
|
0.00008
|
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr)
|
rs766272638
|
0.00008
|
NM_001114753.3(ENG):c.1852+21C>G
|
rs147188969
|
0.00008
|
NM_001114753.3(ENG):c.634G>A (p.Val212Met)
|
rs370652082
|
0.00008
|
NM_001114753.3(ENG):c.690-4G>A
|
rs762621671
|
0.00008
|
NM_002890.3(RASA1):c.2488-20T>G
|
rs369400038
|
0.00008
|
NM_002890.3(RASA1):c.319G>C (p.Val107Leu)
|
rs138308013
|
0.00008
|
NM_002890.3(RASA1):c.346C>G (p.Leu116Val)
|
rs149246093
|
0.00008
|
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met)
|
rs782198119
|
0.00008
|
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
|
rs367957332
|
0.00008
|
NM_016204.4(GDF2):c.903G>A (p.Glu301=)
|
rs199937159
|
0.00008
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
NM_001114753.3(ENG):c.1712G>A (p.Arg571His)
|
rs138799379
|
0.00007
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
NM_001114753.3(ENG):c.690-17C>T
|
rs199525659
|
0.00007
|
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg)
|
rs777805156
|
0.00007
|
NM_016204.4(GDF2):c.847G>A (p.Val283Met)
|
rs138904328
|
0.00007
|
NM_016204.4(GDF2):c.933G>A (p.Gly311=)
|
rs375969347
|
0.00007
|
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp)
|
rs373133784
|
0.00006
|
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=)
|
rs141429164
|
0.00006
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_000020.3(ACVRL1):c.759C>T (p.His253=)
|
rs374020751
|
0.00006
|
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=)
|
rs200320649
|
0.00006
|
NM_001114753.3(ENG):c.-76C>T
|
rs943786398
|
0.00006
|
NM_001114753.3(ENG):c.1446C>T (p.Ser482=)
|
rs143945873
|
0.00006
|
NM_001114753.3(ENG):c.1695T>C (p.His565=)
|
rs750637713
|
0.00006
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
NM_001114753.3(ENG):c.360C>T (p.Tyr120=)
|
rs121918402
|
0.00006
|
NM_002890.3(RASA1):c.1408G>A (p.Ala470Thr)
|
rs144748261
|
0.00006
|
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly)
|
rs199894378
|
0.00006
|
NM_002890.3(RASA1):c.1968A>T (p.Ile656=)
|
rs370819852
|
0.00006
|
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)
|
rs149297860
|
0.00006
|
NM_002890.3(RASA1):c.396C>T (p.Gly132=)
|
rs898128418
|
0.00006
|
NM_016204.4(GDF2):c.654C>T (p.Asp218=)
|
rs782545137
|
0.00006
|
NM_016204.4(GDF2):c.861G>C (p.Leu287=)
|
rs1189713032
|
0.00006
|
NM_016204.4(GDF2):c.901G>A (p.Glu301Lys)
|
rs41314469
|
0.00006
|
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=)
|
rs147885255
|
0.00005
|
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)
|
rs781586192
|
0.00005
|
NM_001114753.3(ENG):c.-126G>A
|
rs940261789
|
0.00005
|
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro)
|
rs150293362
|
0.00005
|
NM_001114753.3(ENG):c.1273-4G>A
|
rs373308042
|
0.00005
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001114753.3(ENG):c.1632C>T (p.Thr544=)
|
rs117510900
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
|
rs200960408
|
0.00005
|
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
|
rs773156160
|
0.00005
|
NM_001114753.3(ENG):c.689+17G>A
|
rs773103359
|
0.00005
|
NM_002890.3(RASA1):c.1722A>G (p.Ala574=)
|
rs200157130
|
0.00005
|
NM_002890.3(RASA1):c.1935-16C>T
|
rs780047662
|
0.00005
|
NM_002890.3(RASA1):c.2259C>T (p.Ala753=)
|
rs552498036
|
0.00005
|
NM_002890.3(RASA1):c.259A>T (p.Thr87Ser)
|
rs147942393
|
0.00005
|
NM_002890.3(RASA1):c.404C>G (p.Pro135Arg)
|
rs770426834
|
0.00005
|
NM_016204.4(GDF2):c.203G>A (p.Arg68His)
|
rs200330818
|
0.00005
|
NM_016204.4(GDF2):c.231G>A (p.Ser77=)
|
rs782105568
|
0.00005
|
NM_000020.3(ACVRL1):c.526-11C>T
|
rs573934792
|
0.00004
|
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)
|
rs373062714
|
0.00004
|
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=)
|
rs149508813
|
0.00004
|
NM_000020.3(ACVRL1):c.840C>T (p.His280=)
|
rs146188863
|
0.00004
|
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
|
rs145300204
|
0.00004
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys)
|
rs747481834
|
0.00004
|
NM_001114753.3(ENG):c.1134+92G>A
|
rs1194091413
|
0.00004
|
NM_001114753.3(ENG):c.1312-13C>T
|
rs770902350
|
0.00004
|
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
NM_001114753.3(ENG):c.1437G>A (p.Val479=)
|
rs754600063
|
0.00004
|
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala)
|
rs375965489
|
0.00004
|
NM_001114753.3(ENG):c.1686+18C>T
|
rs767620198
|
0.00004
|
NM_001114753.3(ENG):c.1686+19G>A
|
rs201163068
|
0.00004
|
NM_001114753.3(ENG):c.1742-15G>A
|
rs201678228
|
0.00004
|
NM_001114753.3(ENG):c.1761C>T (p.Leu587=)
|
rs546872552
|
0.00004
|
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
|
rs747344646
|
0.00004
|
NM_001114753.3(ENG):c.220-16C>T
|
rs748668677
|
0.00004
|
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
|
rs546637270
|
0.00004
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
|
rs755116051
|
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_001114753.3(ENG):c.747C>T (p.Ala249=)
|
rs557060922
|
0.00004
|
NM_001114753.3(ENG):c.817-27_817-26del
|
rs761699139
|
0.00004
|
NM_001114753.3(ENG):c.817-8A>G
|
rs753576292
|
0.00004
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
NM_002890.3(RASA1):c.1017+13C>T
|
rs779299337
|
0.00004
|
NM_002890.3(RASA1):c.1350C>G (p.Leu450=)
|
rs780071686
|
0.00004
|
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser)
|
rs529871259
|
0.00004
|
NM_002890.3(RASA1):c.1373A>C (p.Glu458Ala)
|
rs772447424
|
0.00004
|
NM_002890.3(RASA1):c.1735C>T (p.Arg579Trp)
|
rs770599456
|
0.00004
|
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys)
|
rs370631681
|
0.00004
|
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
|
rs759711265
|
0.00004
|
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
|
rs745960407
|
0.00004
|
NM_002890.3(RASA1):c.2266C>T (p.Leu756=)
|
rs776305383
|
0.00004
|
NM_002890.3(RASA1):c.2337C>T (p.Ser779=)
|
rs758662266
|
0.00004
|
NM_002890.3(RASA1):c.2608T>C (p.Leu870=)
|
rs372498033
|
0.00004
|
NM_002890.3(RASA1):c.3120T>C (p.Tyr1040=)
|
rs538998012
|
0.00004
|
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe)
|
rs200883284
|
0.00004
|
NM_002890.3(RASA1):c.467G>T (p.Gly156Val)
|
rs373892264
|
0.00004
|
NM_002890.3(RASA1):c.474T>C (p.Ser158=)
|
rs148256526
|
0.00004
|
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr)
|
rs182498192
|
0.00004
|
NM_002890.3(RASA1):c.89A>G (p.Tyr30Cys)
|
rs376663338
|
0.00004
|
NM_016204.4(GDF2):c.478G>A (p.Val160Met)
|
rs144705412
|
0.00004
|
NM_016204.4(GDF2):c.716C>T (p.Thr239Met)
|
rs782560993
|
0.00004
|
NM_016204.4(GDF2):c.73C>T (p.Leu25=)
|
rs200760960
|
0.00004
|
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys)
|
rs782092613
|
0.00004
|
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=)
|
rs150140878
|
0.00003
|
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
|
rs1231598304
|
0.00003
|
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)
|
rs767764795
|
0.00003
|
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln)
|
rs200459424
|
0.00003
|
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=)
|
rs376417482
|
0.00003
|
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr)
|
rs754813319
|
0.00003
|
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=)
|
rs542810348
|
0.00003
|
NM_001114753.3(ENG):c.1020G>A (p.Pro340=)
|
rs773748110
|
0.00003
|
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys)
|
rs138190783
|
0.00003
|
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
|
rs548690138
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.1299A>G (p.Ser433=)
|
rs762387524
|
0.00003
|
NM_001114753.3(ENG):c.1323C>T (p.His441=)
|
rs751203937
|
0.00003
|
NM_001114753.3(ENG):c.1671C>T (p.Thr557=)
|
rs369135742
|
0.00003
|
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg)
|
rs373230507
|
0.00003
|
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala)
|
rs1472137141
|
0.00003
|
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
|
rs1413416433
|
0.00003
|
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)
|
rs750115837
|
0.00003
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
NM_001114753.3(ENG):c.45C>G (p.Ala15=)
|
rs768137759
|
0.00003
|
NM_001114753.3(ENG):c.524-13C>T
|
rs756926952
|
0.00003
|
NM_001114753.3(ENG):c.524-14G>A
|
rs371420421
|
0.00003
|
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)
|
rs780987528
|
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.674C>T (p.Pro225Leu)
|
rs781715616
|
0.00003
|
NM_001114753.3(ENG):c.690-5C>T
|
rs374628465
|
0.00003
|
NM_001114753.3(ENG):c.69T>C (p.Ser23=)
|
rs202048202
|
0.00003
|
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
|
rs1370586541
|
0.00003
|
NM_001114753.3(ENG):c.900G>A (p.Leu300=)
|
rs140155568
|
0.00003
|
NM_001114753.3(ENG):c.999G>A (p.Arg333=)
|
rs371174838
|
0.00003
|
NM_002890.3(RASA1):c.1018-18T>C
|
rs534160838
|
0.00003
|
NM_002890.3(RASA1):c.105G>T (p.Arg35=)
|
rs780829562
|
0.00003
|
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln)
|
rs755634472
|
0.00003
|
NM_002890.3(RASA1):c.1332+20T>C
|
rs374993077
|
0.00003
|
NM_002890.3(RASA1):c.1593T>C (p.His531=)
|
rs368416407
|
0.00003
|
NM_002890.3(RASA1):c.1777-12T>A
|
rs933452101
|
0.00003
|
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu)
|
rs763915835
|
0.00003
|
NM_002890.3(RASA1):c.2344+4T>C
|
rs919731021
|
0.00003
|
NM_002890.3(RASA1):c.2648A>G (p.His883Arg)
|
rs372559312
|
0.00003
|
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn)
|
rs767789983
|
0.00003
|
NM_002890.3(RASA1):c.2794T>C (p.Leu932=)
|
rs199733745
|
0.00003
|
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=)
|
rs3747704
|
0.00003
|
NM_002890.3(RASA1):c.48C>A (p.Ala16=)
|
rs566022333
|
0.00003
|
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
|
rs986802785
|
0.00003
|
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
|
rs145354256
|
0.00003
|
NM_016204.4(GDF2):c.1008C>T (p.Phe336=)
|
rs1041318325
|
0.00003
|
NM_016204.4(GDF2):c.1110G>A (p.Pro370=)
|
rs534378338
|
0.00003
|
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
|
rs556004917
|
0.00003
|
NM_016204.4(GDF2):c.717G>A (p.Thr239=)
|
rs781821989
|
0.00003
|
NM_016204.4(GDF2):c.732C>T (p.Val244=)
|
rs145385373
|
0.00003
|
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter)
|
rs1555208696
|
0.00003
|
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=)
|
rs750157791
|
0.00002
|
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)
|
rs781770577
|
0.00002
|
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=)
|
rs755557465
|
0.00002
|
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg)
|
rs1439294840
|
0.00002
|
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
|
rs556168617
|
0.00002
|
NM_000020.3(ACVRL1):c.429C>T (p.Val143=)
|
rs762047618
|
0.00002
|
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
|
rs778058646
|
0.00002
|
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro)
|
rs1371249289
|
0.00002
|
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn)
|
rs369436815
|
0.00002
|
NM_000020.3(ACVRL1):c.61+7A>T
|
rs200221603
|
0.00002
|
NM_000020.3(ACVRL1):c.813G>T (p.Thr271=)
|
rs543884349
|
0.00002
|
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=)
|
rs779758131
|
0.00002
|
NM_001114753.3(ENG):c.-59C>T
|
rs1003149967
|
0.00002
|
NM_001114753.3(ENG):c.1135C>G (p.His379Asp)
|
rs771599199
|
0.00002
|
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met)
|
rs199764615
|
0.00002
|
NM_001114753.3(ENG):c.1155G>A (p.Thr385=)
|
rs770249062
|
0.00002
|
NM_001114753.3(ENG):c.1217G>A (p.Arg406His)
|
rs149065210
|
0.00002
|
NM_001114753.3(ENG):c.1311+6A>G
|
rs1060501416
|
0.00002
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln)
|
rs199629212
|
0.00002
|
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
|
rs765564489
|
0.00002
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00002
|
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
|
rs757511675
|
0.00002
|
NM_001114753.3(ENG):c.1758C>T (p.Gly586=)
|
rs150566847
|
0.00002
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
|
rs1449770420
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001114753.3(ENG):c.393G>A (p.Pro131=)
|
rs760121099
|
0.00002
|
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln)
|
rs756980265
|
0.00002
|
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)
|
rs767850408
|
0.00002
|
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala)
|
rs764472279
|
0.00002
|
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp)
|
rs971190119
|
0.00002
|
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
|
rs772467926
|
0.00002
|
NM_001114753.3(ENG):c.708G>A (p.Val236=)
|
rs780260845
|
0.00002
|
NM_001114753.3(ENG):c.722G>A (p.Ser241Asn)
|
rs1060501411
|
0.00002
|
NM_001114753.3(ENG):c.733G>A (p.Gly245Arg)
|
rs762569294
|
0.00002
|
NM_001114753.3(ENG):c.741C>T (p.Leu247=)
|
rs201457707
|
0.00002
|
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
|
rs759102482
|
0.00002
|
NM_001114753.3(ENG):c.774C>T (p.Tyr258=)
|
rs537154767
|
0.00002
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
NM_001114753.3(ENG):c.816+14A>G
|
rs774964688
|
0.00002
|
NM_001114753.3(ENG):c.990C>T (p.Cys330=)
|
rs369202854
|
0.00002
|
NM_002890.3(RASA1):c.1049+16T>C
|
rs1353303200
|
0.00002
|
NM_002890.3(RASA1):c.1103T>G (p.Val368Gly)
|
rs1038459573
|
0.00002
|
NM_002890.3(RASA1):c.1152C>T (p.Gly384=)
|
rs144668841
|
0.00002
|
NM_002890.3(RASA1):c.1368C>T (p.Gly456=)
|
rs774547215
|
0.00002
|
NM_002890.3(RASA1):c.1575T>C (p.Cys525=)
|
rs758578004
|
0.00002
|
NM_002890.3(RASA1):c.1736G>A (p.Arg579Gln)
|
rs377099473
|
0.00002
|
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)
|
rs749218158
|
0.00002
|
NM_002890.3(RASA1):c.1911A>G (p.Val637=)
|
rs370957991
|
0.00002
|
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
|
rs758288921
|
0.00002
|
NM_002890.3(RASA1):c.2221T>G (p.Leu741Val)
|
rs200416306
|
0.00002
|
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)
|
rs373098580
|
0.00002
|
NM_002890.3(RASA1):c.2301G>A (p.Ser767=)
|
rs751475441
|
0.00002
|
NM_002890.3(RASA1):c.2328A>G (p.Arg776=)
|
rs748472598
|
0.00002
|
NM_002890.3(RASA1):c.2345-11T>C
|
rs750436800
|
0.00002
|
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr)
|
rs778245184
|
0.00002
|
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)
|
rs755788420
|
0.00002
|
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg)
|
rs553059467
|
0.00002
|
NM_002890.3(RASA1):c.2759-18T>G
|
rs371458251
|
0.00002
|
NM_002890.3(RASA1):c.2761T>G (p.Ser921Ala)
|
rs775945854
|
0.00002
|
NM_002890.3(RASA1):c.39G>T (p.Pro13=)
|
rs969604375
|
0.00002
|
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser)
|
rs765405975
|
0.00002
|
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro)
|
rs780636400
|
0.00002
|
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys)
|
rs200949838
|
0.00002
|
NM_002890.3(RASA1):c.62G>A (p.Gly21Asp)
|
rs1436547254
|
0.00002
|
NM_002890.3(RASA1):c.68C>G (p.Ala23Gly)
|
rs760944130
|
0.00002
|
NM_002890.3(RASA1):c.810C>T (p.Tyr270=)
|
rs748164164
|
0.00002
|
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
|
rs753769946
|
0.00002
|
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
|
rs374823017
|
0.00002
|
NM_002890.3(RASA1):c.899+10A>G
|
rs545348240
|
0.00002
|
NM_016204.4(GDF2):c.1254C>T (p.Tyr418=)
|
rs782759852
|
0.00002
|
NM_016204.4(GDF2):c.326T>C (p.Val109Ala)
|
rs782118500
|
0.00002
|
NM_016204.4(GDF2):c.619G>T (p.Val207Leu)
|
rs148262680
|
0.00002
|
NM_016204.4(GDF2):c.627C>T (p.Ser209=)
|
rs374479283
|
0.00002
|
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
|
rs371005117
|
0.00001
|
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser)
|
rs749510030
|
0.00001
|
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=)
|
rs779118678
|
0.00001
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
NM_000020.3(ACVRL1):c.120T>C (p.His40=)
|
rs745507845
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=)
|
rs1219639551
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000020.3(ACVRL1):c.18C>G (p.Pro6=)
|
rs778246850
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000020.3(ACVRL1):c.246C>T (p.Thr82=)
|
rs754476526
|
0.00001
|
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=)
|
rs776283937
|
0.00001
|
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
|
rs777206350
|
0.00001
|
NM_000020.3(ACVRL1):c.525+10T>C
|
rs555706400
|
0.00001
|
NM_000020.3(ACVRL1):c.526-10G>A
|
rs771469803
|
0.00001
|
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)
|
rs999380946
|
0.00001
|
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln)
|
rs1018788708
|
0.00001
|
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=)
|
rs911791104
|
0.00001
|
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=)
|
rs1332822854
|
0.00001
|
NM_000020.3(ACVRL1):c.846C>T (p.His282=)
|
rs574165873
|
0.00001
|
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)
|
rs139486404
|
0.00001
|
NM_000020.3(ACVRL1):c.90G>A (p.Pro30=)
|
rs373401329
|
0.00001
|
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=)
|
rs1359095143
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.-91C>T
|
rs1478547011
|
0.00001
|
NM_001114753.3(ENG):c.-99C>T
|
rs1488678420
|
0.00001
|
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
|
rs1416672742
|
0.00001
|
NM_001114753.3(ENG):c.1008C>T (p.Thr336=)
|
rs766675335
|
0.00001
|
NM_001114753.3(ENG):c.1014C>T (p.Pro338=)
|
rs1057522787
|
0.00001
|
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu)
|
rs1356571461
|
0.00001
|
NM_001114753.3(ENG):c.1056G>A (p.Pro352=)
|
rs769530262
|
0.00001
|
NM_001114753.3(ENG):c.1071C>T (p.Ser357=)
|
rs1305112426
|
0.00001
|
NM_001114753.3(ENG):c.108C>T (p.Gly36=)
|
rs748898883
|
0.00001
|
NM_001114753.3(ENG):c.1092C>T (p.Ala364=)
|
rs375427398
|
0.00001
|
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly)
|
rs932659087
|
0.00001
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
|
rs1315317848
|
0.00001
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val)
|
rs369997021
|
0.00001
|
NM_001114753.3(ENG):c.1275G>A (p.Ala425=)
|
rs963830488
|
0.00001
|
NM_001114753.3(ENG):c.1293G>A (p.Ser431=)
|
rs774036076
|
0.00001
|
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
|
rs763594769
|
0.00001
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001114753.3(ENG):c.1312-10C>T
|
rs1830401278
|
0.00001
|
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)
|
rs755962839
|
0.00001
|
NM_001114753.3(ENG):c.1314A>G (p.Lys438=)
|
rs750412250
|
0.00001
|
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val)
|
rs375171647
|
0.00001
|
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile)
|
rs777564305
|
0.00001
|
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
|
rs748457491
|
0.00001
|
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln)
|
rs370554511
|
0.00001
|
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu)
|
rs367753784
|
0.00001
|
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg)
|
rs756263325
|
0.00001
|
NM_001114753.3(ENG):c.1428+18C>A
|
rs1399497751
|
0.00001
|
NM_001114753.3(ENG):c.1428+5C>G
|
rs1564452925
|
0.00001
|
NM_001114753.3(ENG):c.1429-5T>C
|
rs777525174
|
0.00001
|
NM_001114753.3(ENG):c.1429-9C>T
|
rs370836025
|
0.00001
|
NM_001114753.3(ENG):c.1480C>G (p.His494Asp)
|
rs775718026
|
0.00001
|
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp)
|
rs201517535
|
0.00001
|
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)
|
rs189572386
|
0.00001
|
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)
|
rs745316066
|
0.00001
|
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn)
|
rs780884220
|
0.00001
|
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
|
rs923794879
|
0.00001
|
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
|
rs570296266
|
0.00001
|
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
|
rs1425275422
|
0.00001
|
NM_001114753.3(ENG):c.1687-7C>T
|
rs756527693
|
0.00001
|
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly)
|
rs1428529909
|
0.00001
|
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)
|
rs781201877
|
0.00001
|
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
|
rs759341808
|
0.00001
|
NM_001114753.3(ENG):c.1742-10C>T
|
rs761244549
|
0.00001
|
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
|
rs200080694
|
0.00001
|
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
|
rs756003321
|
0.00001
|
NM_001114753.3(ENG):c.1782C>T (p.Gly594=)
|
rs1390519046
|
0.00001
|
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)
|
rs201031046
|
0.00001
|
NM_001114753.3(ENG):c.1852+11C>T
|
rs1830300469
|
0.00001
|
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys)
|
rs1346184000
|
0.00001
|
NM_001114753.3(ENG):c.185T>A (p.Leu62His)
|
rs1060501424
|
0.00001
|
NM_001114753.3(ENG):c.208G>A (p.Glu70Lys)
|
rs1179814153
|
0.00001
|
NM_001114753.3(ENG):c.219+12dup
|
rs1448024285
|
0.00001
|
NM_001114753.3(ENG):c.219+19G>T
|
rs1348683648
|
0.00001
|
NM_001114753.3(ENG):c.219+3G>A
|
rs1419279746
|
0.00001
|
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
|
rs532649202
|
0.00001
|
NM_001114753.3(ENG):c.28G>A (p.Val10Ile)
|
rs1829096799
|
0.00001
|
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly)
|
rs757343854
|
0.00001
|
NM_001114753.3(ENG):c.344C>T (p.Pro115Leu)
|
rs146987480
|
0.00001
|
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
|
rs772534014
|
0.00001
|
NM_001114753.3(ENG):c.361-5C>T
|
rs766201542
|
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.470C>T (p.Thr157Ile)
|
rs1388404555
|
0.00001
|
NM_001114753.3(ENG):c.48C>G (p.Ser16Arg)
|
rs540893029
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001114753.3(ENG):c.524-6C>T
|
rs1203177428
|
0.00001
|
NM_001114753.3(ENG):c.534_536del (p.Leu179del)
|
rs1285249384
|
0.00001
|
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe)
|
rs375025857
|
0.00001
|
NM_001114753.3(ENG):c.575G>A (p.Arg192His)
|
rs1029569378
|
0.00001
|
NM_001114753.3(ENG):c.576C>T (p.Arg192=)
|
rs1482783820
|
0.00001
|
NM_001114753.3(ENG):c.579G>A (p.Thr193=)
|
rs769703434
|
0.00001
|
NM_001114753.3(ENG):c.582C>T (p.Leu194=)
|
rs140663846
|
0.00001
|
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
|
rs770898485
|
0.00001
|
NM_001114753.3(ENG):c.594G>A (p.Pro198=)
|
rs568278048
|
0.00001
|
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
|
rs762209698
|
0.00001
|
NM_001114753.3(ENG):c.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
NM_001114753.3(ENG):c.636G>C (p.Val212=)
|
rs759493966
|
0.00001
|
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
|
rs1435676276
|
0.00001
|
NM_001114753.3(ENG):c.67+7G>A
|
rs1455679426
|
0.00001
|
NM_001114753.3(ENG):c.675G>A (p.Pro225=)
|
rs757608428
|
0.00001
|
NM_001114753.3(ENG):c.68-17G>A
|
rs570198729
|
0.00001
|
NM_001114753.3(ENG):c.68-18C>T
|
rs372807542
|
0.00001
|
NM_001114753.3(ENG):c.68-9C>G
|
rs200772068
|
0.00001
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
0.00001
|
NM_001114753.3(ENG):c.684G>A (p.Ser228=)
|
rs368752783
|
0.00001
|
NM_001114753.3(ENG):c.689+12G>A
|
rs759600714
|
0.00001
|
NM_001114753.3(ENG):c.690-16G>C
|
rs375559067
|
0.00001
|
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr)
|
rs769339049
|
0.00001
|
NM_001114753.3(ENG):c.698C>T (p.Thr233Met)
|
rs139767471
|
0.00001
|
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
|
rs1361480439
|
0.00001
|
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe)
|
rs377377549
|
0.00001
|
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
|
rs780493782
|
0.00001
|
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
|
rs368800416
|
0.00001
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
|
rs763763510
|
0.00001
|
NM_001114753.3(ENG):c.816+6T>C
|
rs759191907
|
0.00001
|
NM_001114753.3(ENG):c.817-5A>G
|
rs765777426
|
0.00001
|
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
|
rs121918400
|
0.00001
|
NM_001114753.3(ENG):c.839A>G (p.Lys280Arg)
|
rs774709924
|
0.00001
|
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
|
rs764640510
|
0.00001
|
NM_001114753.3(ENG):c.863G>A (p.Arg288His)
|
rs770328302
|
0.00001
|
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)
|
rs753429934
|
0.00001
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_001114753.3(ENG):c.975T>G (p.Leu325=)
|
rs776872127
|
0.00001
|
NM_002890.3(RASA1):c.100T>C (p.Cys34Arg)
|
rs757010847
|
0.00001
|
NM_002890.3(RASA1):c.1010A>T (p.Glu337Val)
|
rs1396751378
|
0.00001
|
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
|
rs759265277
|
0.00001
|
NM_002890.3(RASA1):c.1035A>G (p.Pro345=)
|
rs188475610
|
0.00001
|
NM_002890.3(RASA1):c.1067T>C (p.Ile356Thr)
|
rs1459576919
|
0.00001
|
NM_002890.3(RASA1):c.1073A>G (p.Lys358Arg)
|
rs913909238
|
0.00001
|
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
|
rs746551717
|
0.00001
|
NM_002890.3(RASA1):c.1102+9A>G
|
rs942850053
|
0.00001
|
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)
|
rs780044015
|
0.00001
|
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser)
|
rs1179465272
|
0.00001
|
NM_002890.3(RASA1):c.1126G>A (p.Val376Met)
|
rs749102561
|
0.00001
|
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)
|
rs772125504
|
0.00001
|
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
|
rs770469001
|
0.00001
|
NM_002890.3(RASA1):c.1239C>T (p.Gly413=)
|
rs752030661
|
0.00001
|
NM_002890.3(RASA1):c.124C>T (p.Leu42=)
|
rs1753672813
|
0.00001
|
NM_002890.3(RASA1):c.1253+19G>T
|
rs374702293
|
0.00001
|
NM_002890.3(RASA1):c.1253+8A>G
|
rs757811116
|
0.00001
|
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
|
rs569976773
|
0.00001
|
NM_002890.3(RASA1):c.1290G>A (p.Gln430=)
|
rs765869491
|
0.00001
|
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=)
|
rs778801311
|
0.00001
|
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=)
|
rs747987480
|
0.00001
|
NM_002890.3(RASA1):c.1320T>C (p.Pro440=)
|
rs758200534
|
0.00001
|
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser)
|
rs532587037
|
0.00001
|
NM_002890.3(RASA1):c.1346T>C (p.Val449Ala)
|
rs1178664330
|
0.00001
|
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe)
|
rs757166432
|
0.00001
|
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=)
|
rs761191995
|
0.00001
|
NM_002890.3(RASA1):c.1423A>G (p.Ile475Val)
|
rs757154079
|
0.00001
|
NM_002890.3(RASA1):c.1453+6T>C
|
rs1352575365
|
0.00001
|
NM_002890.3(RASA1):c.1454-6A>C
|
rs1041546774
|
0.00001
|
NM_002890.3(RASA1):c.1454-7T>A
|
rs1173346145
|
0.00001
|
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys)
|
rs1580178685
|
0.00001
|
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
|
rs1027587049
|
0.00001
|
NM_002890.3(RASA1):c.1587C>T (p.Val529=)
|
rs747313927
|
0.00001
|
NM_002890.3(RASA1):c.1605T>C (p.Phe535=)
|
rs1459643901
|
0.00001
|
NM_002890.3(RASA1):c.1644T>C (p.Phe548=)
|
rs749876769
|
0.00001
|
NM_002890.3(RASA1):c.1698+20A>G
|
rs764032034
|
0.00001
|
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile)
|
rs779770765
|
0.00001
|
NM_002890.3(RASA1):c.17C>T (p.Ala6Val)
|
rs1010729751
|
0.00001
|
NM_002890.3(RASA1):c.1809C>T (p.Ala603=)
|
rs746619669
|
0.00001
|
NM_002890.3(RASA1):c.1842A>G (p.Pro614=)
|
rs376280581
|
0.00001
|
NM_002890.3(RASA1):c.1938T>C (p.Asp646=)
|
rs549861815
|
0.00001
|
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
|
rs1206604314
|
0.00001
|
NM_002890.3(RASA1):c.2012-11T>A
|
rs774133026
|
0.00001
|
NM_002890.3(RASA1):c.2073G>A (p.Leu691=)
|
rs767007141
|
0.00001
|
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
|
rs202220195
|
0.00001
|
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val)
|
rs972697183
|
0.00001
|
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
|
rs749550641
|
0.00001
|
NM_002890.3(RASA1):c.2185-7A>G
|
rs1159798476
|
0.00001
|
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)
|
rs1204340475
|
0.00001
|
NM_002890.3(RASA1):c.2256G>A (p.Leu752=)
|
rs1388677749
|
0.00001
|
NM_002890.3(RASA1):c.2307G>A (p.Leu769=)
|
rs780065565
|
0.00001
|
NM_002890.3(RASA1):c.2316A>G (p.Thr772=)
|
rs755166023
|
0.00001
|
NM_002890.3(RASA1):c.2333dup (p.Ser779fs)
|
rs1347210621
|
0.00001
|
NM_002890.3(RASA1):c.2345-6del
|
rs747443446
|
0.00001
|
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter)
|
rs1463885690
|
0.00001
|
NM_002890.3(RASA1):c.2487+20A>G
|
rs185067003
|
0.00001
|
NM_002890.3(RASA1):c.248G>C (p.Gly83Ala)
|
rs755788420
|
0.00001
|
NM_002890.3(RASA1):c.249A>T (p.Gly83=)
|
rs1015107894
|
0.00001
|
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
|
rs771835302
|
0.00001
|
NM_002890.3(RASA1):c.2586T>C (p.Ala862=)
|
rs773083852
|
0.00001
|
NM_002890.3(RASA1):c.258G>C (p.Leu86=)
|
rs781199990
|
0.00001
|
NM_002890.3(RASA1):c.2603+3A>G
|
rs763113460
|
0.00001
|
NM_002890.3(RASA1):c.2604-19G>A
|
rs1487801274
|
0.00001
|
NM_002890.3(RASA1):c.261_262del (p.Gly89fs)
|
rs1384480619
|
0.00001
|
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=)
|
rs759595320
|
0.00001
|
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr)
|
rs878854571
|
0.00001
|
NM_002890.3(RASA1):c.2691-6A>T
|
rs745758645
|
0.00001
|
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser)
|
rs765747521
|
0.00001
|
NM_002890.3(RASA1):c.2751C>T (p.Ile917=)
|
rs1761888219
|
0.00001
|
NM_002890.3(RASA1):c.2759-13A>G
|
rs1761990605
|
0.00001
|
NM_002890.3(RASA1):c.2848-4T>C
|
rs778704112
|
0.00001
|
NM_002890.3(RASA1):c.2897G>A (p.Arg966His)
|
rs757298110
|
0.00001
|
NM_002890.3(RASA1):c.2913A>G (p.Leu971=)
|
rs997491956
|
0.00001
|
NM_002890.3(RASA1):c.2925+20G>C
|
rs1290076478
|
0.00001
|
NM_002890.3(RASA1):c.2926-14C>T
|
rs886060843
|
0.00001
|
NM_002890.3(RASA1):c.2926-16T>A
|
rs750513068
|
0.00001
|
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu)
|
rs772714180
|
0.00001
|
NM_002890.3(RASA1):c.3032C>T (p.Thr1011Met)
|
rs770325546
|
0.00001
|
NM_002890.3(RASA1):c.3049G>A (p.Gly1017Ser)
|
rs1762319822
|
0.00001
|
NM_002890.3(RASA1):c.3061-11C>T
|
rs548241728
|
0.00001
|
NM_002890.3(RASA1):c.3061-19C>T
|
rs1454542039
|
0.00001
|
NM_002890.3(RASA1):c.3064G>A (p.Val1022Ile)
|
rs373643445
|
0.00001
|
NM_002890.3(RASA1):c.3102A>G (p.Gln1034=)
|
rs1462232114
|
0.00001
|
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr)
|
rs144524710
|
0.00001
|
NM_002890.3(RASA1):c.318T>C (p.Ala106=)
|
rs1753686148
|
0.00001
|
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
|
rs748658296
|
0.00001
|
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp)
|
rs1002148193
|
0.00001
|
NM_002890.3(RASA1):c.414C>G (p.Pro138=)
|
rs762661391
|
0.00001
|
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
|
rs370782901
|
0.00001
|
NM_002890.3(RASA1):c.453G>T (p.Gly151=)
|
rs778269579
|
0.00001
|
NM_002890.3(RASA1):c.480T>C (p.Asp160=)
|
rs749028647
|
0.00001
|
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr)
|
rs761820082
|
0.00001
|
NM_002890.3(RASA1):c.519G>A (p.Leu173=)
|
rs759689538
|
0.00001
|
NM_002890.3(RASA1):c.540-19T>G
|
rs374013466
|
0.00001
|
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
|
rs139174054
|
0.00001
|
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
|
rs760186488
|
0.00001
|
NM_002890.3(RASA1):c.616A>G (p.Ile206Val)
|
rs752280214
|
0.00001
|
NM_002890.3(RASA1):c.618A>C (p.Ile206=)
|
rs763843462
|
0.00001
|
NM_002890.3(RASA1):c.692+17A>G
|
rs1757597491
|
0.00001
|
NM_002890.3(RASA1):c.78C>T (p.Gly26=)
|
rs752084710
|
0.00001
|
NM_002890.3(RASA1):c.829-7T>C
|
rs750149451
|
0.00001
|
NM_002890.3(RASA1):c.909A>G (p.Lys303=)
|
rs765093179
|
0.00001
|
NM_002890.3(RASA1):c.917T>C (p.Met306Thr)
|
rs757272694
|
0.00001
|
NM_002890.3(RASA1):c.992T>C (p.Ile331Thr)
|
rs756457101
|
0.00001
|
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val)
|
rs782452633
|
0.00001
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
NM_016204.4(GDF2):c.1068T>C (p.Cys356=)
|
rs781876898
|
0.00001
|
NM_016204.4(GDF2):c.1098C>T (p.Asp366=)
|
rs781981224
|
0.00001
|
NM_016204.4(GDF2):c.1104G>A (p.Val368=)
|
rs782031068
|
0.00001
|
NM_016204.4(GDF2):c.1125C>A (p.Ile375=)
|
rs782554928
|
0.00001
|
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys)
|
rs782137039
|
0.00001
|
NM_016204.4(GDF2):c.1266C>T (p.Ser422=)
|
rs782465391
|
0.00001
|
NM_016204.4(GDF2):c.1281G>T (p.Gly427=)
|
rs781842184
|
0.00001
|
NM_016204.4(GDF2):c.129G>T (p.Val43=)
|
rs764356554
|
0.00001
|
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
|
rs1410431494
|
0.00001
|
NM_016204.4(GDF2):c.273C>T (p.Asp91=)
|
rs781965686
|
0.00001
|
NM_016204.4(GDF2):c.286T>C (p.Tyr96His)
|
rs142466901
|
0.00001
|
NM_016204.4(GDF2):c.303G>A (p.Ser101=)
|
rs782482281
|
0.00001
|
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)
|
rs1443463485
|
0.00001
|
NM_016204.4(GDF2):c.346+19C>A
|
rs538288079
|
0.00001
|
NM_016204.4(GDF2):c.41C>G (p.Ser14Cys)
|
rs1190807654
|
0.00001
|
NM_016204.4(GDF2):c.514A>G (p.Ile172Val)
|
rs201712167
|
0.00001
|
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys)
|
rs1555208917
|
0.00001
|
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg)
|
rs1555208692
|
0.00001
|
NM_016204.4(GDF2):c.687T>C (p.Thr229=)
|
rs1555208934
|
0.00001
|
NM_016204.4(GDF2):c.714C>T (p.Asp238=)
|
rs782288867
|
0.00001
|
NM_016204.4(GDF2):c.792G>C (p.Gly264=)
|
rs781907754
|
0.00001
|
NM_016204.4(GDF2):c.825del (p.Met275fs)
|
rs1555209009
|
0.00001
|
NM_016204.4(GDF2):c.870C>T (p.Asp290=)
|
rs782675565
|
0.00001
|
NM_016204.4(GDF2):c.936G>A (p.Ser312=)
|
rs782232499
|
0.00001
|
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp)
|
rs559992144
|
0.00001
|
NM_016204.4(GDF2):c.960C>T (p.Ser320=)
|
rs782203502
|
0.00001
|
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)
|
rs782796080
|
0.00001
|
NC_000005.10:g.(?_87268432)_(87353255_?)del
|
|
|
NC_000005.10:g.(?_87268442)_(87353245_?)del
|
|
|
NC_000005.10:g.(?_87390790)_(87390893_?)del
|
|
|
NC_000005.9:g.(?_86564269)_(86564827_?)del
|
|
|
NC_000005.9:g.(?_86564269)_(86564827_?)dup
|
|
|
NC_000005.9:g.(?_86564269)_(86649072_?)dup
|
|
|
NC_000005.9:g.(?_86564269)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86564269)_(86686700_?)del
|
|
|
NC_000005.9:g.(?_86627145)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86627145)_(86672402_?)dup
|
|
|
NC_000005.9:g.(?_86633771)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86675532)_(86685364_?)dup
|
|
|
NC_000009.11:g.(?_130577951)_(130581121_?)del
|
|
|
NC_000009.11:g.(?_130577951)_(130582326_?)del
|
|
|
NC_000009.11:g.(?_130577951)_(130700109_?)del
|
|
|
NC_000009.11:g.(?_130578090)_130581774del
|
|
|
NC_000009.11:g.(?_130578190)_(130592112_?)dup
|
|
|
NC_000009.11:g.(?_130578190)_(130616640_?)dup
|
|
|
NC_000009.11:g.(?_130578196)_(130581131_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130582336_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130616761_?)dup
|
|
|
NC_000009.11:g.(?_130579418)_(130579492_?)del
|
|
|
NC_000009.11:g.(?_130586563)_(130587263_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130588971_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130592126_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130605544_?)dup
|
|
|
NC_000009.11:g.(?_130586573)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130586635)_(130592750_?)del
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)dup
|
|
|
NC_000009.11:g.(?_130605351)_(130616761_?)del
|
|
|
NC_000009.11:g.(?_130605373)_(130605524_?)dup
|
|
|
NC_000009.12:g.(?_127815012)_(127854773_?)del
|
|
|
NC_000009.12:g.(?_127815662)_(127820057_?)del
|
|
|
NC_000009.12:g.(?_127815672)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127815907)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127815917)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127819602)_(127820057_?)del
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)del
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)dup
|
|
|
NC_000009.12:g.(?_127819612)_(127829837_?)del
|
|
|
NC_000009.12:g.(?_127819616)_(127820043_?)del
|
|
|
NC_000009.12:g.(?_127819622)_(127820037_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127824994_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127829847_?)del
|
|
|
NC_000009.12:g.(?_127824284)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127824294)_(127824456_?)del
|
|
|
NC_000009.12:g.(?_127824294)_(127825367_?)dup
|
|
|
NC_000009.12:g.(?_127824294)_(127826683_?)del
|
|
|
NC_000009.12:g.(?_127825214)_(127826683_?)del
|
|
|
NC_000009.12:g.(?_127829681)_(127829833_?)del
|
|
|
NC_000009.12:g.(?_127843084)_(127843255_?)dup
|
|
|
NC_000009.12:g.(?_127843088)_(127843251_?)del
|
|
|
NC_000009.12:g.(?_127843094)_(127843245_?)del
|
|
|
NC_000009.12:g.(?_127854269)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127854279)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127854279)_(127854482_?)del
|
|
|
NC_000010.10:g.(?_48413558)_(48416713_?)del
|
|
|
NC_000010.10:g.(?_48413568)_(48416703_?)del
|
|
|
NC_000010.10:g.(?_48413568)_(48416703_?)dup
|
|
|
NC_000010.10:g.(?_48413578)_(48416693_?)del
|
|
|
NC_000012.11:g.(?_52306239)_(52314697_?)del
|
|
|
NC_000012.11:g.(?_52306259)_(52307877_?)del
|
|
|
NC_000012.11:g.(?_52306259)_(52310037_?)dup
|
|
|
NC_000012.11:g.(?_52306863)_(52310037_?)del
|
|
|
NC_000012.11:g.(?_52309800)_(52310037_?)del
|
|
|
NC_000012.11:g.(?_52314523)_(52314677_?)del
|
|
|
NC_000012.11:g.52308281_52308282insAlu
|
|
|
NC_000012.12:g.(?_51912465)_(51912545_?)del
|
|
|
NC_000012.12:g.(?_51912465)_(51920903_?)del
|
|
|
NC_000012.12:g.(?_51913079)_(51913790_?)del
|
|
|
NC_000012.12:g.(?_51913089)_(51916243_?)del
|
|
|
NC_000012.12:g.(?_51913539)_(51919135_?)del
|
|
|
NC_000012.12:g.(?_51913954)_(51919135_?)del
|
|
|
NC_000012.12:g.(?_51920691)_(51920903_?)del
|
|
|
NC_000012.12:g.(?_51920739)_(51920913_?)del
|
|
|
NC_000012.12:g.(?_51920759)_(51923361_?)del
|
|
|
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser)
|
rs1060503247
|
|
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)
|
rs1060503247
|
|
NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=)
|
|
|
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu)
|
rs1565594467
|
|
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
|
|
|
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
|
|
|
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
|
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
|
rs2139074041
|
|
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
|
rs1940812234
|
|
NM_000020.3(ACVRL1):c.1014C>T (p.Val338=)
|
rs1565594472
|
|
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter)
|
rs1940812366
|
|
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
|
|
|
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro)
|
rs762287966
|
|
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
|
rs1592224385
|
|
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro)
|
rs1592224402
|
|
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
|
rs1226848374
|
|
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)
|
rs1592224412
|
|
NM_000020.3(ACVRL1):c.1030_1048+18del
|
rs1940812948
|
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter)
|
rs368437392
|
|
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=)
|
rs368437392
|
|
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg)
|
rs1060503239
|
|
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)
|
rs1592224431
|
|
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
|
|
|
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)
|
rs1565594524
|
|
NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser)
|
|
|
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
|
rs1940813707
|
|
NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)
|
|
|
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
|
|
|
NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)
|
|
|
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=)
|
rs750685021
|
|
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=)
|
rs750685021
|
|
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
|
|
|
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr)
|
rs1940813954
|
|
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs)
|
rs1565594536
|
|
NM_000020.3(ACVRL1):c.1043_1048+1dup
|
rs1940814079
|
|
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
|
|
|
NM_000020.3(ACVRL1):c.1044_1048+4dup
|
|
|
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)
|
rs765895870
|
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1048+2T>C
|
|
|
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
|
rs1940814416
|
|
NM_000020.3(ACVRL1):c.1048+55_1048+58del
|
rs575587274
|
|
NM_000020.3(ACVRL1):c.1048+5G>A
|
|
|
NM_000020.3(ACVRL1):c.1048+7C>T
|
|
|
NM_000020.3(ACVRL1):c.1048+8G>A
|
|
|
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
|
|
|
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)
|
rs1565594547
|
|
NM_000020.3(ACVRL1):c.1049-16G>A
|
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1049-1G>T
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1049-9C>T
|
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
|
|
|
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs)
|
rs1940830552
|
|
NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=)
|
rs764080716
|
|
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
|
rs2139075900
|
|
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)
|
rs2139064443
|
|
NM_000020.3(ACVRL1):c.1110G>A (p.Val370=)
|
|
|
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
|
rs1940832594
|
|
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)
|
rs1565594920
|
|
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro)
|
rs1060503248
|
|
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)
|
rs1555153277
|
|
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr)
|
rs1565594969
|
|
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
|
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
|
|
|
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
|
rs1940833669
|
|
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
|
|
|
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
|
|
|
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
|
|
|
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
|
|
|
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)
|
rs1085307417
|
|
NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=)
|
|
|
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter)
|
rs148057374
|
|
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
|
rs1940834530
|
|
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
|
rs2139064475
|
|
NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=)
|
|
|
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del)
|
rs1940835452
|
|
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln)
|
rs1565595070
|
|
NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)
|
|
|
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
|
rs1592225036
|
|
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn)
|
rs1940836783
|
|
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)
|
rs1592225044
|
|
NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)
|
|
|
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
|
|
|
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter)
|
rs1940837338
|
|
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
|
|
|
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
|
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
|
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
|
|
|
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)
|
rs1555153354
|
|
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs)
|
rs2139077020
|
|
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)
|
rs1060503235
|
|
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)
|
rs2139077046
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly)
|
rs2139064528
|
|
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly)
|
rs1565595121
|
|
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
|
rs1565595129
|
|
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
|
|
|
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)
|
rs1184716348
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1231_1246+4dup
|
rs1940838178
|
|
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)
|
rs121909284
|
|
NM_000020.3(ACVRL1):c.1246+11A>G
|
|
|
NM_000020.3(ACVRL1):c.1246+16A>C
|
|
|
NM_000020.3(ACVRL1):c.1246+1G>A
|
rs1565595176
|
|
NM_000020.3(ACVRL1):c.1246+2T>C
|
rs1555153382
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1247-13T>G
|
|
|
NM_000020.3(ACVRL1):c.1247-1G>C
|
rs2139083899
|
|
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del)
|
rs2139064546
|
|
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs)
|
rs1555153796
|
|
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)
|
rs753480401
|
|
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
|
|
|
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
|
|
|
NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=)
|
|
|
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
|
rs1940906429
|
|
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
|
|
|
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=)
|
rs191763644
|
|
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
|
rs771606504
|
|
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
|
rs2139084154
|
|
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
|
rs1940731395
|
|
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs)
|
rs2139064592
|
|
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly)
|
rs1060503238
|
|
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)
|
rs1555153828
|
|
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
|
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)
|
rs2139064649
|
|
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)
|
rs1565596498
|
|
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=)
|
rs1592226875
|
|
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs)
|
rs1555153830
|
|
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)
|
rs1085307421
|
|
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala)
|
rs2139084277
|
|
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
|
|
|
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
|
|
|
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs)
|
rs1565596508
|
|
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs)
|
rs1940908116
|
|
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)
|
rs1064794217
|
|
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter)
|
rs2139084336
|
|
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser)
|
rs1940908457
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs)
|
rs1940908396
|
|
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
|
|
|
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)
|
rs1555153848
|
|
NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=)
|
|
|
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1377+20T>G
|
|
|
NM_000020.3(ACVRL1):c.1377+2T>G
|
rs1555153854
|
|
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1378-11C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-131C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-1G>A
|
rs1060503237
|
|
NM_000020.3(ACVRL1):c.1378-216C>G
|
rs111710113
|
|
NM_000020.3(ACVRL1):c.1378-2A>G
|
rs2139089146
|
|
NM_000020.3(ACVRL1):c.1378-4C>G
|
|
|
NM_000020.3(ACVRL1):c.1378-69C>T
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs)
|
rs2139089160
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
|
|
|
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)
|
rs1555152455
|
|
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
|
|
|
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=)
|
rs760773605
|
|
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
|
rs760773605
|
|
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
|
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
|
|
|
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)
|
rs1940955180
|
|
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr)
|
rs1555154137
|
|
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)
|
rs1301762186
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
|
|
|
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter)
|
rs1940955656
|
|
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter)
|
rs1940955656
|
|
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
|
|
|
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
|
rs1940955941
|
|
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
|
rs1940955941
|
|
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)
|
rs1592228303
|
|
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg)
|
rs2139064757
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro)
|
rs1085307426
|
|
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
|
|
|
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
|
|
|
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
|
rs267606632
|
|
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
|
|
|
NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)
|
|
|
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
|
|
|
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
|
|
|
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
|
|
|
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg)
|
rs1565597471
|
|
NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=)
|
rs121909288
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
|
rs1940959530
|
|
NM_000020.3(ACVRL1):c.145del (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)
|
|
|
NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=)
|
rs1286842082
|
|
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile)
|
rs1940959903
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)
|
|
|
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)
|
rs1555152468
|
|
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)
|
rs1555152468
|
|
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=)
|
rs745390732
|
|
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
|
|
|
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)
|
rs2139064874
|
|
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)
|
rs863223409
|
|
NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)
|
|
|
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
|
|
|
NM_000020.3(ACVRL1):c.183del (p.Arg61fs)
|
rs1060503246
|
|
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)
|
rs1592221728
|
|
NM_000020.3(ACVRL1):c.190del (p.Gln64fs)
|
rs1060503241
|
|
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
|
|
|
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter)
|
rs1427299751
|
|
NM_000020.3(ACVRL1):c.193del (p.Glu65fs)
|
rs2139065161
|
|
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
|
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
|
|
|
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)
|
rs56080682
|
|
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter)
|
rs750720985
|
|
NM_000020.3(ACVRL1):c.223del (p.Glu75fs)
|
rs2139065347
|
|
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp)
|
rs1221689111
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
|
|
NM_000020.3(ACVRL1):c.237del (p.Arg80fs)
|
rs1592221830
|
|
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)
|
rs1592221830
|
|
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
|
|
|
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys)
|
rs1940738967
|
|
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp)
|
rs1430932447
|
|
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
|
rs1940739692
|
|
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)
|
rs775754117
|
|
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)
|
rs1060503234
|
|
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)
|
rs1592221930
|
|
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
|
|
|
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
|
|
|
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
|
|
|
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
|
|
|
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser)
|
rs1085307406
|
|
NM_000020.3(ACVRL1):c.303_313+2del
|
|
|
NM_000020.3(ACVRL1):c.306G>T (p.Val102=)
|
|
|
NM_000020.3(ACVRL1):c.313+1G>A
|
rs1555152548
|
|
NM_000020.3(ACVRL1):c.313+1G>C
|
|
|
NM_000020.3(ACVRL1):c.313+1G>T
|
rs1555152548
|
|
NM_000020.3(ACVRL1):c.313+7C>G
|
rs374171506
|
|
NM_000020.3(ACVRL1):c.314-12C>A
|
rs1226569087
|
|
NM_000020.3(ACVRL1):c.314-13C>T
|
|
|
NM_000020.3(ACVRL1):c.314-16T>C
|
|
|
NM_000020.3(ACVRL1):c.314-19C>T
|
|
|
NM_000020.3(ACVRL1):c.314-9C>T
|
|
|
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
|
|
|
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter)
|
rs143872998
|
|
NM_000020.3(ACVRL1):c.336del (p.Gln112fs)
|
rs1940750523
|
|
NM_000020.3(ACVRL1):c.339G>A (p.Pro113=)
|
|
|
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
|
|
|
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs)
|
rs2139067065
|
|
NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln)
|
|
|
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro)
|
rs762756031
|
|
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
|
rs56301903
|
|
NM_000020.3(ACVRL1):c.372C>T (p.Gly124=)
|
rs55758365
|
|
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=)
|
rs148975811
|
|
NM_000020.3(ACVRL1):c.375del (p.Val126fs)
|
rs1940751760
|
|
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
|
|
|
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs)
|
rs2139067187
|
|
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=)
|
rs2139067291
|
|
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)
|
rs863223416
|
|
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
|
rs2139067412
|
|
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=)
|
rs2139067433
|
|
NM_000020.3(ACVRL1):c.41dup (p.Met15fs)
|
rs1060503236
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
|
|
|
NM_000020.3(ACVRL1):c.462C>T (p.His154=)
|
rs1188042599
|
|
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.469C>T (p.Leu157=)
|
|
|
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
|
rs1940756257
|
|
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
|
|
|
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
|
|
|
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
|
|
|
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
|
|
|
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs)
|
rs2139067828
|
|
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs)
|
rs2139062776
|
|
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs)
|
rs1940757414
|
|
NM_000020.3(ACVRL1):c.525+14_525+21del
|
|
|
NM_000020.3(ACVRL1):c.525+1G>A
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.525+1G>C
|
|
|
NM_000020.3(ACVRL1):c.525+1G>T
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.525+1del
|
rs1060503249
|
|
NM_000020.3(ACVRL1):c.525+2T>C
|
rs2139067969
|
|
NM_000020.3(ACVRL1):c.525+3A>G
|
|
|
NM_000020.3(ACVRL1):c.525+7G>A
|
|
|
NM_000020.3(ACVRL1):c.526-13T>A
|
|
|
NM_000020.3(ACVRL1):c.526-1G>A
|
rs1565593274
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
|
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs)
|
rs1555152771
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.549C>A (p.Thr183=)
|
rs2139068700
|
|
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)
|
rs1288729113
|
|
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=)
|
rs1404977364
|
|
NM_000020.3(ACVRL1):c.573del (p.Phe192fs)
|
rs1555152786
|
|
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=)
|
rs201207660
|
|
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
|
|
|
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
|
|
|
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
|
|
|
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)
|
rs1555152345
|
|
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala)
|
rs886043123
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.61+14G>A
|
|
|
NM_000020.3(ACVRL1):c.61+1G>A
|
|
|
NM_000020.3(ACVRL1):c.61+1G>T
|
|
|
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del)
|
rs1060503250
|
|
NM_000020.3(ACVRL1):c.615G>A (p.Val205=)
|
rs1940766632
|
|
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
|
|
|
NM_000020.3(ACVRL1):c.62-9G>A
|
|
|
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter)
|
rs1940766819
|
|
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)
|
rs1060503240
|
|
NM_000020.3(ACVRL1):c.625+10G>A
|
rs1592223042
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
NM_000020.3(ACVRL1):c.625+1G>T
|
rs1940767034
|
|
NM_000020.3(ACVRL1):c.625+1del
|
rs1555152815
|
|
NM_000020.3(ACVRL1):c.625+20G>A
|
|
|
NM_000020.3(ACVRL1):c.625+2T>C
|
rs1592223028
|
|
NM_000020.3(ACVRL1):c.625+3G>C
|
|
|
NM_000020.3(ACVRL1):c.625+4del
|
|
|
NM_000020.3(ACVRL1):c.625+5G>T
|
rs2139069022
|
|
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
|
rs1940766958
|
|
NM_000020.3(ACVRL1):c.626-16C>T
|
|
|
NM_000020.3(ACVRL1):c.626-1G>A
|
rs2139070294
|
|
NM_000020.3(ACVRL1):c.626-2A>G
|
rs1940780382
|
|
NM_000020.3(ACVRL1):c.626-59del
|
rs864622702
|
|
NM_000020.3(ACVRL1):c.626-9G>A
|
rs1940780208
|
|
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
|
|
|
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys)
|
rs1940780439
|
|
NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)
|
|
|
NM_000020.3(ACVRL1):c.641del (p.Gly214fs)
|
rs1555152909
|
|
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
|
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup)
|
rs2139070394
|
|
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)
|
rs1592223399
|
|
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
|
|
|
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro)
|
rs779287554
|
|
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)
|
rs1592223416
|
|
NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe)
|
rs142906906
|
|
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter)
|
rs2139070482
|
|
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)
|
rs1940782114
|
|
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
|
|
|
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
|
|
|
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
|
|
|
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)
|
rs1565593639
|
|
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu)
|
rs1592223468
|
|
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
|
|
|
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
|
rs1940782891
|
|
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
NM_000020.3(ACVRL1):c.68del (p.Pro23fs)
|
rs2139064139
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs)
|
rs2139070714
|
|
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=)
|
rs762796409
|
|
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
|
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs)
|
rs1555152935
|
|
NM_000020.3(ACVRL1):c.714del (p.Trp239fs)
|
rs1940783683
|
|
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)
|
rs1940784067
|
|
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)
|
rs1592221459
|
|
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
|
rs755026232
|
|
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)
|
rs1555152955
|
|
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
|
|
|
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
|
|
|
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg)
|
rs2139070976
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
|
|
|
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
|
|
|
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
|
|
|
NM_000020.3(ACVRL1):c.772+1G>C
|
rs1940785759
|
|
NM_000020.3(ACVRL1):c.772+27G>A
|
|
|
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)
|
rs1555152966
|
|
NM_000020.3(ACVRL1):c.773-7C>T
|
|
|
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC
|
rs1555153071
|
|
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn)
|
rs2139072643
|
|
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
|
|
|
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)
|
rs2139064218
|
|
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=)
|
rs2139072722
|
|
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
|
|
|
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs)
|
rs2139072772
|
|
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)
|
rs1555153077
|
|
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys)
|
rs2139072795
|
|
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
|
|
|
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
|
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
|
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
|
|
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
|
|
|
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter)
|
rs779485996
|
|
NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)
|
|
|
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
|
|
|
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)
|
rs1940804402
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
|
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter)
|
rs542810348
|
|
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
|
rs1940804969
|
|
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
|
|
|
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
|
|
|
NM_000020.3(ACVRL1):c.86del (p.Gly29fs)
|
rs1940729491
|
|
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)
|
rs1057256890
|
|
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)
|
rs1592224087
|
|
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter)
|
rs1940805354
|
|
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
|
|
|
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg)
|
rs2139073155
|
|
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=)
|
rs776879586
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)
|
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro)
|
rs1565594220
|
|
NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)
|
|
|
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
|
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.915C>T (p.Ser305=)
|
|
|
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
|
rs1940807179
|
|
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)
|
rs1060503244
|
|
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
|
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.921A>T (p.Ala307=)
|
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)
|
rs1555153133
|
|
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)
|
rs1555153133
|
|
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=)
|
rs1592224196
|
|
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs)
|
rs1940808154
|
|
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)
|
rs565262730
|
|
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs)
|
rs2139073551
|
|
NM_000020.3(ACVRL1):c.933G>C (p.Ala311=)
|
|
|
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
|
|
|
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
|
|
|
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr)
|
rs1085307413
|
|
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)
|
rs1085307414
|
|
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter)
|
rs2139073732
|
|
NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs)
|
|
|
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
|
|
|
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
|
|
|
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn)
|
rs771877309
|
|
NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly)
|
|
|
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
|
rs1940810597
|
|
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp)
|
rs769850351
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro)
|
rs2139073840
|
|
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
|
|
|
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln)
|
rs1565594410
|
|
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)
|
rs863223412
|
|
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
|
|
|
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
|
|
|
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=)
|
rs1463725277
|
|
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser)
|
rs1166311240
|
|
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys)
|
rs2139073944
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_000118.3(ENG):c.1687delG
|
rs1564452075
|
|
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
|
rs1830345043
|
|
NM_001114753.3(ENG):c.-111G>A
|
|
|
NM_001114753.3(ENG):c.-112C>T
|
|
|
NM_001114753.3(ENG):c.-115G>A
|
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
NM_001114753.3(ENG):c.-117C>T
|
|
|
NM_001114753.3(ENG):c.-123G>A
|
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.-12C>T
|
|
|
NM_001114753.3(ENG):c.-133C>T
|
|
|
NM_001114753.3(ENG):c.-141G>T
|
|
|
NM_001114753.3(ENG):c.-154C>T
|
|
|
NM_001114753.3(ENG):c.-21A>G
|
|
|
NM_001114753.3(ENG):c.-24C>T
|
|
|
NM_001114753.3(ENG):c.-2G>T
|
|
|
NM_001114753.3(ENG):c.-58G>A
|
|
|
NM_001114753.3(ENG):c.-59C>A
|
|
|
NM_001114753.3(ENG):c.-62G>A
|
|
|
NM_001114753.3(ENG):c.-69G>A
|
|
|
NM_001114753.3(ENG):c.-70del
|
rs886063477
|
|
NM_001114753.3(ENG):c.-75G>A
|
|
|
NM_001114753.3(ENG):c.-77C>G
|
rs1829099196
|
|
NM_001114753.3(ENG):c.-78G>A
|
|
|
NM_001114753.3(ENG):c.-79C>T
|
rs1564466502
|
|
NM_001114753.3(ENG):c.-8_8del (p.Met1fs)
|
rs1588604603
|
|
NM_001114753.3(ENG):c.-90G>C
|
rs768083796
|
|
NM_001114753.3(ENG):c.-94C>G
|
|
|
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1017A>G (p.Ala339=)
|
rs2131886064
|
|
NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr)
|
|
|
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
|
rs909339898
|
|
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter)
|
rs774429348
|
|
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
|
rs1830551216
|
|
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
|
rs2131886016
|
|
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
|
rs2131885993
|
|
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)
|
rs1064792934
|
|
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser)
|
rs1554810062
|
|
NM_001114753.3(ENG):c.1042del (p.Asp348fs)
|
rs2131885976
|
|
NM_001114753.3(ENG):c.1050T>C (p.Cys350=)
|
|
|
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
|
|
|
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
|
rs1830549584
|
|
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
|
|
|
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn)
|
rs2131885879
|
|
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
|
|
|
NM_001114753.3(ENG):c.1076dup (p.Gln360fs)
|
rs2131885883
|
|
NM_001114753.3(ENG):c.1077C>A (p.Ile359=)
|
rs1830549327
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)
|
rs1588580782
|
|
NM_001114753.3(ENG):c.1089T>C (p.Cys363=)
|
|
|
NM_001114753.3(ENG):c.1092C>G (p.Ala364=)
|
|
|
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr)
|
rs548690138
|
|
NM_001114753.3(ENG):c.1095C>G (p.Asp365Glu)
|
rs142803546
|
|
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn)
|
rs1800956
|
|
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro)
|
rs372371435
|
|
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser)
|
|
|
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg)
|
|
|
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
|
|
|
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile)
|
rs775352287
|
|
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val)
|
|
|
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
|
rs1830547696
|
|
NM_001114753.3(ENG):c.1110G>A (p.Leu370=)
|
rs1588580725
|
|
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu)
|
rs1830547424
|
|
NM_001114753.3(ENG):c.1111dup (p.Val371fs)
|
rs1554810041
|
|
NM_001114753.3(ENG):c.1114C>T (p.Leu372=)
|
|
|
NM_001114753.3(ENG):c.111C>G (p.Pro37=)
|
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs)
|
rs1554810037
|
|
NM_001114753.3(ENG):c.1134+12C>T
|
|
|
NM_001114753.3(ENG):c.1134+16C>A
|
|
|
NM_001114753.3(ENG):c.1134+1G>A
|
rs112809381
|
|
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
|
rs1329127701
|
|
NM_001114753.3(ENG):c.1135-10del
|
|
|
NM_001114753.3(ENG):c.1135-15del
|
|
|
NM_001114753.3(ENG):c.1135-20G>A
|
|
|
NM_001114753.3(ENG):c.1135-4C>T
|
|
|
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
|
rs771599199
|
|
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer)
|
rs2131879372
|
|
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)
|
rs1131691931
|
|
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)
|
rs2131879350
|
|
NM_001114753.3(ENG):c.1152C>T (p.Ile384=)
|
|
|
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)
|
rs1564453623
|
|
NM_001114753.3(ENG):c.1161G>C (p.Leu387=)
|
|
|
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)
|
rs1588577016
|
|
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)
|
rs1564453619
|
|
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
|
rs892005175
|
|
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
|
|
|
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
|
rs1830434474
|
|
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly)
|
rs2131879297
|
|
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
|
|
|
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
|
|
|
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
|
rs781518626
|
|
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
|
|
|
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
|
rs1830434129
|
|
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
|
rs778319338
|
|
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)
|
rs1131691422
|
|
NM_001114753.3(ENG):c.1195del (p.Arg399fs)
|
rs1131691444
|
|
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
|
rs1418330913
|
|
NM_001114753.3(ENG):c.1199del (p.Gly400fs)
|
rs1060501422
|
|
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
|
|
|
NM_001114753.3(ENG):c.119del (p.Gly40fs)
|
rs369596004
|
|
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)
|
rs1306446029
|
|
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
|
rs2131879238
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
NM_001114753.3(ENG):c.1209T>C (p.Phe403=)
|
|
|
NM_001114753.3(ENG):c.1209dup (p.Val404fs)
|
rs2131879220
|
|
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
|
|
|
NM_001114753.3(ENG):c.1215G>A (p.Leu405=)
|
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1218C>T (p.Arg406=)
|
|
|
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)
|
rs1554809516
|
|
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
|
|
|
NM_001114753.3(ENG):c.1230C>T (p.Ser410=)
|
|
|
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
|
rs1830432884
|
|
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)
|
rs1554809513
|
|
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
|
rs1830432773
|
|
NM_001114753.3(ENG):c.1236_1687-77del
|
|
|
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
|
rs1830432717
|
|
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
|
|
|
NM_001114753.3(ENG):c.1247dup (p.Ser417fs)
|
rs1588576923
|
|
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
|
|
|
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)
|
rs760446518
|
|
NM_001114753.3(ENG):c.1268del (p.Asn423fs)
|
rs1564453538
|
|
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
|
|
|
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
|
|
|
NM_001114753.3(ENG):c.1272+10G>A
|
|
|
NM_001114753.3(ENG):c.1272+13G>T
|
|
|
NM_001114753.3(ENG):c.1272+14C>G
|
rs1211943511
|
|
NM_001114753.3(ENG):c.1272+16A>C
|
rs1271187725
|
|
NM_001114753.3(ENG):c.1272+20del
|
|
|
NM_001114753.3(ENG):c.1272+2dup
|
|
|
NM_001114753.3(ENG):c.1272+8C>A
|
rs1273740782
|
|
NM_001114753.3(ENG):c.1273-10A>G
|
rs2131878677
|
|
NM_001114753.3(ENG):c.1273-14C>G
|
|
|
NM_001114753.3(ENG):c.1273-14C>T
|
|
|
NM_001114753.3(ENG):c.1273-18C>T
|
|
|
NM_001114753.3(ENG):c.1273-19C>T
|
|
|
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
|
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
|
rs1830425770
|
|
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
|
|
|
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu)
|
rs369997021
|
|
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
|
rs1830425455
|
|
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
|
rs1830425406
|
|
NM_001114753.3(ENG):c.1278G>A (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1278G>C (p.Val426=)
|
|
|
NM_001114753.3(ENG):c.1286dup (p.Leu430fs)
|
rs1554809455
|
|
NM_001114753.3(ENG):c.1290G>A (p.Leu430=)
|
|
|
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
|
rs377321205
|
|
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
|
rs763594769
|
|
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
|
|
|
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
|
|
|
NM_001114753.3(ENG):c.1302A>G (p.Ser434=)
|
rs1588576596
|
|
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
|
|
|
NM_001114753.3(ENG):c.130T>C (p.Tyr44His)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
|
|
|
NM_001114753.3(ENG):c.1311+13G>A
|
|
|
NM_001114753.3(ENG):c.1311+15C>T
|
|
|
NM_001114753.3(ENG):c.1311+18G>A
|
|
|
NM_001114753.3(ENG):c.1311+1G>A
|
|
|
NM_001114753.3(ENG):c.1311+1dup
|
rs1554809446
|
|
NM_001114753.3(ENG):c.1311+2T>A
|
|
|
NM_001114753.3(ENG):c.1311+2T>C
|
|
|
NM_001114753.3(ENG):c.1311+5G>A
|
rs1830423993
|
|
NM_001114753.3(ENG):c.1311+89C>T
|
rs368202311
|
|
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1311G>T (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1312-16T>G
|
|
|
NM_001114753.3(ENG):c.1312-16_1312-13del
|
rs1276298912
|
|
NM_001114753.3(ENG):c.1312-19C>T
|
|
|
NM_001114753.3(ENG):c.1312-1G>C
|
rs2131877148
|
|
NM_001114753.3(ENG):c.1312-20T>C
|
rs1448646670
|
|
NM_001114753.3(ENG):c.1312-3C>G
|
rs2131877153
|
|
NM_001114753.3(ENG):c.1312-4C>G
|
rs2131877165
|
|
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)
|
rs863223536
|
|
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
|
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)
|
rs1554809361
|
|
NM_001114753.3(ENG):c.1327del (p.Leu443fs)
|
rs1060501413
|
|
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
|
rs2131918640
|
|
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
|
rs1830399696
|
|
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
|
rs1830399300
|
|
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001114753.3(ENG):c.1338C>T (p.Asp446=)
|
|
|
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs)
|
rs1564453019
|
|
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs)
|
rs2131877041
|
|
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
|
|
|
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter)
|
rs1554809355
|
|
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
|
rs1830398628
|
|
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
|
|
|
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
|
|
|
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs)
|
rs1064793889
|
|
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
|
rs774943840
|
|
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
|
|
|
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
|
|
|
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile)
|
rs1393437924
|
|
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
|
|
|
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
|
rs2131876977
|
|
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
|
rs1830397241
|
|
NM_001114753.3(ENG):c.1394dup (p.Asn465fs)
|
rs1554809348
|
|
NM_001114753.3(ENG):c.1401C>T (p.Ile467=)
|
|
|
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys)
|
|
|
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
|
|
|
NM_001114753.3(ENG):c.1410del (p.Gln471fs)
|
rs1085307433
|
|
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
|
rs1830395639
|
|
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
|
|
|
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
|
|
|
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)
|
rs1554809331
|
|
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs)
|
rs1060501412
|
|
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)
|
rs561818608
|
|
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
|
rs965119099
|
|
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1428+11T>C
|
|
|
NM_001114753.3(ENG):c.1428+1G>A
|
rs863223542
|
|
NM_001114753.3(ENG):c.1428+20C>A
|
|
|
NM_001114753.3(ENG):c.1428+2T>A
|
rs863223543
|
|
NM_001114753.3(ENG):c.1428+2T>C
|
rs863223543
|
|
NM_001114753.3(ENG):c.1428+5C>A
|
rs1564452925
|
|
NM_001114753.3(ENG):c.1428+8G>A
|
rs2131876799
|
|
NM_001114753.3(ENG):c.1429-16C>T
|
|
|
NM_001114753.3(ENG):c.1429-1G>C
|
rs2131876244
|
|
NM_001114753.3(ENG):c.1429-23_1429-1del
|
|
|
NM_001114753.3(ENG):c.1429-2A>G
|
rs1564452759
|
|
NM_001114753.3(ENG):c.1429-3C>T
|
|
|
NM_001114753.3(ENG):c.1429-6A>G
|
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
NM_001114753.3(ENG):c.1429-8C>T
|
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
|
rs1831082433
|
|
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser)
|
rs778561832
|
|
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs)
|
rs1564452747
|
|
NM_001114753.3(ENG):c.1440C>A (p.Ser480=)
|
rs1588575160
|
|
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser)
|
rs1554809289
|
|
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
|
rs1830385865
|
|
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
|
|
|
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)
|
rs997074986
|
|
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu)
|
rs1830385483
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)
|
rs1057521648
|
|
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)
|
rs763475207
|
|
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
|
|
|
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
|
rs1830385077
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
|
|
|
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
|
rs2131876068
|
|
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn)
|
rs2131876065
|
|
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
|
rs1830384447
|
|
NM_001114753.3(ENG):c.1497T>C (p.Pro499=)
|
|
|
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter)
|
rs927607049
|
|
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu)
|
rs2131876010
|
|
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
|
|
|
NM_001114753.3(ENG):c.1509del (p.Val504fs)
|
rs1564452685
|
|
NM_001114753.3(ENG):c.150G>A (p.Ser50=)
|
rs377129516
|
|
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
|
rs2131875976
|
|
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
|
|
|
NM_001114753.3(ENG):c.1515dup (p.Leu506fs)
|
rs1564452667
|
|
NM_001114753.3(ENG):c.1517T>A (p.Leu506His)
|
rs778594104
|
|
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
|
rs1225393890
|
|
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
|
rs2131875912
|
|
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
|
|
|
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
|
|
|
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
|
rs2131875889
|
|
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
|
|
|
NM_001114753.3(ENG):c.1541del (p.Gly514fs)
|
rs1554809268
|
|
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs)
|
rs863223541
|
|
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
|
rs2131875838
|
|
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)
|
rs886041325
|
|
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)
|
rs2131875808
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
|
rs929266862
|
|
NM_001114753.3(ENG):c.1572del (p.Glu525fs)
|
rs2131875783
|
|
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)
|
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
|
|
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
|
|
|
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
|
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
|
|
|
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
|
|
|
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
|
|
|
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)
|
|
|
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
|
|
|
NM_001114753.3(ENG):c.1620C>G (p.Pro540=)
|
rs1163127969
|
|
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
|
rs1830377451
|
|
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)
|
rs1060501421
|
|
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
|
|
|
NM_001114753.3(ENG):c.164del (p.Ala55fs)
|
rs1831081460
|
|
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp)
|
|
|
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
|
|
|
NM_001114753.3(ENG):c.1657del (p.Leu553fs)
|
rs1064794218
|
|
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)
|
|
|
NM_001114753.3(ENG):c.1661G>A (p.Arg554His)
|
|
|
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
|
|
|
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)
|
rs1588596879
|
|
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs)
|
rs1554809229
|
|
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
|
|
|
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
|
rs2131875527
|
|
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
|
rs1830375325
|
|
NM_001114753.3(ENG):c.1675dup (p.Ser559fs)
|
rs2131875524
|
|
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
|
rs1830375228
|
|
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly)
|
rs375965489
|
|
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)
|
rs1588574749
|
|
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
|
|
|
NM_001114753.3(ENG):c.1686+15G>A
|
|
|
NM_001114753.3(ENG):c.1686+1G>A
|
rs1554809228
|
|
NM_001114753.3(ENG):c.1686+5G>A
|
rs1830374353
|
|
NM_001114753.3(ENG):c.1686+8G>A
|
rs372670034
|
|
NM_001114753.3(ENG):c.1686+8G>C
|
rs372670034
|
|
NM_001114753.3(ENG):c.1686+9G>C
|
rs754153231
|
|
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
|
|
|
NM_001114753.3(ENG):c.1687-15C>T
|
|
|
NM_001114753.3(ENG):c.1687-19CT[2]
|
rs566728279
|
|
NM_001114753.3(ENG):c.1687-19CT[3]
|
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1687-1G>T
|
rs1554809106
|
|
NM_001114753.3(ENG):c.1687-2A>G
|
rs2131873933
|
|
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
|
rs2131873923
|
|
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
|
rs750637713
|
|
NM_001114753.3(ENG):c.1695T>G (p.His565Gln)
|
|
|
NM_001114753.3(ENG):c.1695del (p.His565fs)
|
rs1830345505
|
|
NM_001114753.3(ENG):c.1698G>A (p.Arg566=)
|
rs1554809103
|
|
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
|
rs1830345215
|
|
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala)
|
rs1554809101
|
|
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
|
|
|
NM_001114753.3(ENG):c.1704C>T (p.Val568=)
|
rs1830344643
|
|
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
|
|
|
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
|
|
|
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
|
|
|
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
|
|
|
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)
|
rs863223539
|
|
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
|
|
|
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)
|
|
|
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)
|
rs777038953
|
|
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
|
rs1284713532
|
|
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
|
rs1333193699
|
|
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly)
|
rs1564452024
|
|
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg)
|
rs2131873779
|
|
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
|
|
|
NM_001114753.3(ENG):c.1734C>T (p.Asp578=)
|
|
|
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)
|
|
|
NM_001114753.3(ENG):c.1741+10C>T
|
rs1554809082
|
|
NM_001114753.3(ENG):c.1741+79G>A
|
rs551082475
|
|
NM_001114753.3(ENG):c.1741+8C>A
|
|
|
NM_001114753.3(ENG):c.1742-16C>T
|
|
|
NM_001114753.3(ENG):c.1742-19T>C
|
|
|
NM_001114753.3(ENG):c.1742-8C>T
|
rs1296395453
|
|
NM_001114753.3(ENG):c.1742-9C>T
|
rs1362579633
|
|
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
|
rs1830304920
|
|
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
|
|
|
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
|
|
|
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
|
rs747196026
|
|
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
|
|
|
NM_001114753.3(ENG):c.1770C>T (p.Pro590=)
|
rs370943570
|
|
NM_001114753.3(ENG):c.1773C>T (p.Ala591=)
|
|
|
NM_001114753.3(ENG):c.1779G>A (p.Leu593=)
|
|
|
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser)
|
rs1060501409
|
|
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
|
rs1830302512
|
|
NM_001114753.3(ENG):c.179C>T (p.Ala60Val)
|
rs146100407
|
|
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu)
|
rs1060504230
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
|
rs2131871479
|
|
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
|
|
|
NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp)
|
rs148002300
|
|
NM_001114753.3(ENG):c.1845G>C (p.Ser615=)
|
rs759950184
|
|
NM_001114753.3(ENG):c.1845G>T (p.Ser615=)
|
rs759950184
|
|
NM_001114753.3(ENG):c.1852+1G>C
|
rs2131871398
|
|
NM_001114753.3(ENG):c.1852+20A>G
|
|
|
NM_001114753.3(ENG):c.1852+21C>T
|
|
|
NM_001114753.3(ENG):c.1852+23G>A
|
|
|
NM_001114753.3(ENG):c.1852+25G>A
|
|
|
NM_001114753.3(ENG):c.1852+3G>A
|
|
|
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
|
|
|
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)
|
rs1588596830
|
|
NM_001114753.3(ENG):c.189A>G (p.Glu63=)
|
|
|
NM_001114753.3(ENG):c.192C>T (p.Val64=)
|
|
|
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
|
rs1267116267
|
|
NM_001114753.3(ENG):c.198C>T (p.Val66=)
|
|
|
NM_001114753.3(ENG):c.1A>C (p.Met1Leu)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro)
|
rs2131918396
|
|
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
|
rs1831079928
|
|
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
|
|
|
NM_001114753.3(ENG):c.219+12A>G
|
|
|
NM_001114753.3(ENG):c.219+13T>A
|
|
|
NM_001114753.3(ENG):c.219+1G>A
|
rs1554812253
|
|
NM_001114753.3(ENG):c.219+20G>T
|
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219+2T>G
|
|
|
NM_001114753.3(ENG):c.219+4_219+7del
|
|
|
NM_001114753.3(ENG):c.219+5G>A
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219+5G>T
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-11G>C
|
|
|
NM_001114753.3(ENG):c.220-12T>A
|
|
|
NM_001114753.3(ENG):c.220-13_220-12del
|
rs778594969
|
|
NM_001114753.3(ENG):c.220-15_220-13del
|
rs747642549
|
|
NM_001114753.3(ENG):c.220-1G>A
|
rs1554810936
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
NM_001114753.3(ENG):c.220-6C>T
|
rs756342212
|
|
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
|
|
|
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
|
rs376186413
|
|
NM_001114753.3(ENG):c.224del (p.Pro75fs)
|
rs1554810932
|
|
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)
|
rs1588585997
|
|
NM_001114753.3(ENG):c.229del (p.Gln77fs)
|
rs1554810928
|
|
NM_001114753.3(ENG):c.232C>T (p.Leu78=)
|
rs1060504229
|
|
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
|
|
|
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)
|
rs763992842
|
|
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
|
|
|
NM_001114753.3(ENG):c.239del (p.Leu80fs)
|
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.244del (p.Leu82fs)
|
rs1554810921
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
|
rs2131895211
|
|
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
|
|
|
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
|
|
|
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
|
|
|
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
|
|
|
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
|
|
|
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
|
rs1830717066
|
|
NM_001114753.3(ENG):c.278del (p.Arg93fs)
|
|
|
NM_001114753.3(ENG):c.27T>C (p.Ala9=)
|
rs2131936584
|
|
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)
|
rs1588585941
|
|
NM_001114753.3(ENG):c.283G>T (p.Val95Leu)
|
|
|
NM_001114753.3(ENG):c.285G>A (p.Val95=)
|
rs1644523483
|
|
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)
|
rs2131895129
|
|
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
|
rs1830715947
|
|
NM_001114753.3(ENG):c.297C>T (p.Leu99=)
|
rs2131895105
|
|
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)
|
rs267606783
|
|
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg)
|
rs757343854
|
|
NM_001114753.3(ENG):c.314T>A (p.Val105Asp)
|
rs1588585880
|
|
NM_001114753.3(ENG):c.315C>T (p.Val105=)
|
rs1489927188
|
|
NM_001114753.3(ENG):c.318C>T (p.Phe106=)
|
rs1295204585
|
|
NM_001114753.3(ENG):c.320T>G (p.Leu107Arg)
|
|
|
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
|
rs1830714023
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.327C>G (p.Leu109=)
|
|
|
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
|
rs1830713927
|
|
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
|
|
|
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)
|
|
|
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
|
rs1029247883
|
|
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
|
rs759368120
|
|
NM_001114753.3(ENG):c.348G>A (p.Leu116=)
|
rs1205469132
|
|
NM_001114753.3(ENG):c.350A>C (p.His117Pro)
|
rs1588585799
|
|
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys)
|
rs863223533
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
|
|
|
NM_001114753.3(ENG):c.360+12C>G
|
rs1830711464
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>C
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>T
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+2T>C
|
|
|
NM_001114753.3(ENG):c.360+2dup
|
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360+4_360+7del
|
rs2131894927
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)
|
rs121918402
|
|
NM_001114753.3(ENG):c.361-11T>A
|
|
|
NM_001114753.3(ENG):c.361-36_370del
|
rs2131890746
|
|
NM_001114753.3(ENG):c.370C>G (p.Leu124Val)
|
|
|
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
|
rs1564456745
|
|
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)
|
rs750115837
|
|
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
|
rs2131890702
|
|
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
|
|
|
NM_001114753.3(ENG):c.387_388delinsAT (p.Pro130Ser)
|
|
|
NM_001114753.3(ENG):c.389C>T (p.Pro130Leu)
|
|
|
NM_001114753.3(ENG):c.390C>T (p.Pro130=)
|
rs2131890682
|
|
NM_001114753.3(ENG):c.392C>A (p.Pro131Gln)
|
rs139398993
|
|
NM_001114753.3(ENG):c.392del (p.Pro131fs)
|
rs1554810510
|
|
NM_001114753.3(ENG):c.392dup (p.Val133fs)
|
|
|
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile)
|
rs1554810507
|
|
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
|
|
|
NM_001114753.3(ENG):c.397del (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.397dup (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
|
|
|
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp)
|
|
|
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
|
rs2131890631
|
|
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
|
|
|
NM_001114753.3(ENG):c.412C>T (p.Leu138=)
|
|
|
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
|
rs748286907
|
|
NM_001114753.3(ENG):c.417A>G (p.Pro139=)
|
|
|
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)
|
rs1554813788
|
|
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
|
|
|
NM_001114753.3(ENG):c.41del (p.Leu14fs)
|
|
|
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
|
|
|
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
|
|
|
NM_001114753.3(ENG):c.437del (p.Ile146fs)
|
|
|
NM_001114753.3(ENG):c.441T>A (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.441T>C (p.Leu147=)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser)
|
rs2131890519
|
|
NM_001114753.3(ENG):c.456G>A (p.Glu152=)
|
rs1588583553
|
|
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
|
|
|
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp)
|
rs1323149703
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.45C>T (p.Ala15=)
|
|
|
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
|
rs1830620889
|
|
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
|
|
|
NM_001114753.3(ENG):c.468del (p.Thr157fs)
|
rs1830620832
|
|
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
|
|
|
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
|
|
|
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro)
|
rs2131890481
|
|
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr)
|
rs539165395
|
|
NM_001114753.3(ENG):c.488_491del (p.Asn163fs)
|
rs1588583530
|
|
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
|
rs1830620321
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
|
|
|
NM_001114753.3(ENG):c.498G>C (p.Gln166His)
|
rs1167818567
|
|
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile)
|
rs755988915
|
|
NM_001114753.3(ENG):c.501C>T (p.Ser167=)
|
|
|
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)
|
rs2131890414
|
|
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)
|
rs2131890408
|
|
NM_001114753.3(ENG):c.507C>T (p.Leu169=)
|
rs750014839
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
|
|
|
NM_001114753.3(ENG):c.513A>C (p.Arg171=)
|
|
|
NM_001114753.3(ENG):c.513A>G (p.Arg171=)
|
rs751043726
|
|
NM_001114753.3(ENG):c.523+16A>C
|
|
|
NM_001114753.3(ENG):c.523+18C>T
|
|
|
NM_001114753.3(ENG):c.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.524-10G>C
|
|
|
NM_001114753.3(ENG):c.524-11T>C
|
|
|
NM_001114753.3(ENG):c.524-14G>C
|
|
|
NM_001114753.3(ENG):c.527del (p.Gln176fs)
|
rs1830603743
|
|
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
|
rs1830603623
|
|
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
|
|
|
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
|
rs1830603171
|
|
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
|
|
|
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
|
rs1427261977
|
|
NM_001114753.3(ENG):c.558del (p.Ser187fs)
|
rs2131889490
|
|
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)
|
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.562dup (p.Gln188fs)
|
rs1588582962
|
|
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
|
rs147792018
|
|
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr)
|
rs147792018
|
|
NM_001114753.3(ENG):c.568A>G (p.Met190Val)
|
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs)
|
rs1830601919
|
|
NM_001114753.3(ENG):c.572del (p.Gly191fs)
|
rs1564456374
|
|
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly)
|
rs537215880
|
|
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys)
|
|
|
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
|
|
|
NM_001114753.3(ENG):c.576C>G (p.Arg192=)
|
|
|
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala)
|
rs1588582905
|
|
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
|
rs1830601036
|
|
NM_001114753.3(ENG):c.578C>T (p.Thr193Met)
|
rs775442178
|
|
NM_001114753.3(ENG):c.580_596del (p.Leu194fs)
|
rs2131889284
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
|
|
|
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)
|
rs1588582870
|
|
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)
|
rs1588582860
|
|
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
|
|
|
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr)
|
rs902721446
|
|
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg)
|
rs777633247
|
|
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs)
|
rs1554810405
|
|
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
|
|
|
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
|
rs1830599875
|
|
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
|
|
|
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp)
|
rs750916329
|
|
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
|
rs2131889233
|
|
NM_001114753.3(ENG):c.613C>A (p.Arg205=)
|
|
|
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
|
|
|
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln)
|
rs751778614
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
|
|
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
|
rs2131889212
|
|
NM_001114753.3(ENG):c.617del (p.Gly206fs)
|
rs1830599423
|
|
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
|
rs2131889169
|
|
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)
|
rs1440769928
|
|
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
|
rs1243079862
|
|
NM_001114753.3(ENG):c.627G>A (p.Leu209=)
|
rs763087751
|
|
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
|
|
|
NM_001114753.3(ENG):c.636G>A (p.Val212=)
|
|
|
NM_001114753.3(ENG):c.638C>A (p.Ala213Asp)
|
|
|
NM_001114753.3(ENG):c.639C>T (p.Ala213=)
|
|
|
NM_001114753.3(ENG):c.63del (p.Thr22fs)
|
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.651G>A (p.Glu217=)
|
|
|
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
|
rs773156160
|
|
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
|
rs2131889054
|
|
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
|
rs2131889044
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.65_67+19del
|
|
|
NM_001114753.3(ENG):c.660C>T (p.Ile220=)
|
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
|
rs747788064
|
|
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys)
|
|
|
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
|
rs1830596103
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.67+20G>T
|
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.67+5G>T
|
|
|
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
|
rs746358974
|
|
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
|
|
|
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)
|
|
|
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg)
|
|
|
NM_001114753.3(ENG):c.674del (p.Pro225fs)
|
rs1830596596
|
|
NM_001114753.3(ENG):c.679_689+7del
|
|
|
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
|
|
|
NM_001114753.3(ENG):c.67del (p.Ser23fs)
|
rs878853658
|
|
NM_001114753.3(ENG):c.68-18C>A
|
rs372807542
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.68-2A>T
|
|
|
NM_001114753.3(ENG):c.68-3C>G
|
rs773334730
|
|
NM_001114753.3(ENG):c.68-4A>G
|
rs1564462843
|
|
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
|
rs2131888946
|
|
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)
|
rs1452543778
|
|
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
|
rs546671241
|
|
NM_001114753.3(ENG):c.689+11C>T
|
|
|
NM_001114753.3(ENG):c.689+12G>C
|
rs759600714
|
|
NM_001114753.3(ENG):c.689+14C>T
|
|
|
NM_001114753.3(ENG):c.689+15C>A
|
|
|
NM_001114753.3(ENG):c.689+15C>T
|
rs766360447
|
|
NM_001114753.3(ENG):c.689+16C>T
|
|
|
NM_001114753.3(ENG):c.689+1G>A
|
rs1588582594
|
|
NM_001114753.3(ENG):c.689+1G>T
|
|
|
NM_001114753.3(ENG):c.689+20C>A
|
|
|
NM_001114753.3(ENG):c.689+21_689+22del
|
|
|
NM_001114753.3(ENG):c.689+2T>A
|
rs863223535
|
|
NM_001114753.3(ENG):c.689+3A>T
|
|
|
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
|
rs1253367171
|
|
NM_001114753.3(ENG):c.690-16G>A
|
|
|
NM_001114753.3(ENG):c.690-17C>A
|
rs199525659
|
|
NM_001114753.3(ENG):c.690-18G>A
|
|
|
NM_001114753.3(ENG):c.690-18G>C
|
rs376779134
|
|
NM_001114753.3(ENG):c.690-19C>T
|
|
|
NM_001114753.3(ENG):c.690-19del
|
rs557108998
|
|
NM_001114753.3(ENG):c.690-1G>A
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-1G>C
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-2A>T
|
rs1564455970
|
|
NM_001114753.3(ENG):c.690-5C>A
|
|
|
NM_001114753.3(ENG):c.692C>A (p.Pro231His)
|
rs1289232116
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
|
rs772467926
|
|
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
|
|
|
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])
|
rs1588582060
|
|
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
|
|
|
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
|
rs1361480439
|
|
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
|
rs755116051
|
|
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
|
|
|
NM_001114753.3(ENG):c.706_708del (p.Val236del)
|
rs1064794221
|
|
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
|
rs1588582073
|
|
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
|
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)
|
rs1064794220
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
|
|
|
NM_001114753.3(ENG):c.718C>T (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.720G>A (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
|
|
|
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
|
rs1242657224
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.747C>G (p.Ala249=)
|
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
|
rs1830580547
|
|
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
|
rs1830581337
|
|
NM_001114753.3(ENG):c.753_781del (p.Ile252fs)
|
rs1588581867
|
|
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
|
|
|
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
|
rs2131887851
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.765del (p.Tyr258fs)
|
rs1554810232
|
|
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
|
rs143779963
|
|
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
|
rs1830579764
|
|
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
|
rs2131887701
|
|
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala)
|
rs1830580408
|
|
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu)
|
rs756252418
|
|
NM_001114753.3(ENG):c.770_771del (p.Pro257fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771dup (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
|
|
|
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
|
|
|
NM_001114753.3(ENG):c.776del (p.Val259fs)
|
rs1588581880
|
|
NM_001114753.3(ENG):c.777G>T (p.Val259=)
|
rs2131887746
|
|
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
|
rs1830579577
|
|
NM_001114753.3(ENG):c.778dup (p.Ser260fs)
|
rs2131887737
|
|
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.789C>T (p.Ile263=)
|
|
|
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del)
|
rs2131887656
|
|
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp)
|
rs2131887657
|
|
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del)
|
rs1588581812
|
|
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala)
|
|
|
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly)
|
rs139334561
|
|
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
|
rs752331196
|
|
NM_001114753.3(ENG):c.806T>C (p.Met269Thr)
|
rs752331196
|
|
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
|
rs752331196
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg)
|
|
|
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)
|
rs1588581785
|
|
NM_001114753.3(ENG):c.816+11C>T
|
|
|
NM_001114753.3(ENG):c.816+13C>T
|
|
|
NM_001114753.3(ENG):c.816+20C>T
|
|
|
NM_001114753.3(ENG):c.816+2T>C
|
|
|
NM_001114753.3(ENG):c.816+8G>A
|
|
|
NM_001114753.3(ENG):c.816+9T>A
|
rs1830577813
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.817-1G>C
|
rs1564455715
|
|
NM_001114753.3(ENG):c.817-3T>C
|
|
|
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)
|
rs727503038
|
|
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
|
rs2131887210
|
|
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
|
rs1169613826
|
|
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
|
rs2131887195
|
|
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu)
|
rs2131887192
|
|
NM_001114753.3(ENG):c.825A>G (p.Gly275=)
|
|
|
NM_001114753.3(ENG):c.828del (p.Glu276fs)
|
|
|
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
|
rs1460443094
|
|
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
|
|
|
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
|
|
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
|
|
|
NM_001114753.3(ENG):c.836del (p.Phe279fs)
|
rs2131887155
|
|
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
|
|
|
NM_001114753.3(ENG):c.851del (p.Glu284fs)
|
rs2131887114
|
|
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
|
|
|
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys)
|
|
|
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)
|
rs2131887087
|
|
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
|
rs1830570208
|
|
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
|
rs2131887082
|
|
NM_001114753.3(ENG):c.870C>T (p.Phe290=)
|
rs1830570141
|
|
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs)
|
|
|
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del)
|
rs2131887067
|
|
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
|
|
|
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)
|
rs886042916
|
|
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)
|
rs12042
|
|
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
|
|
|
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
|
rs1830569895
|
|
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
|
|
|
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
|
rs1830569662
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
|
|
|
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
|
rs1830569316
|
|
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)
|
rs1060501419
|
|
NM_001114753.3(ENG):c.904dup (p.Glu302fs)
|
rs1554810177
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly)
|
rs754842280
|
|
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
|
rs754842280
|
|
NM_001114753.3(ENG):c.911_918del (p.Arg304fs)
|
rs1564455604
|
|
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp)
|
rs1830568253
|
|
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
|
rs1831084391
|
|
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
|
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001114753.3(ENG):c.922dup (p.Ala308fs)
|
rs2131886942
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr)
|
rs1830567981
|
|
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
|
|
|
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
|
|
|
NM_001114753.3(ENG):c.933G>A (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.933G>T (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
|
rs767171893
|
|
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
|
|
|
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
|
|
|
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
|
|
|
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
|
|
|
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
|
rs1830567220
|
|
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
|
|
|
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
|
rs1830567408
|
|
NM_001114753.3(ENG):c.954G>T (p.Pro318=)
|
rs149590262
|
|
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
|
|
|
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
|
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
|
|
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr)
|
|
|
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
|
|
|
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
|
|
|
NM_001114753.3(ENG):c.966dup (p.Val323fs)
|
|
|
NM_001114753.3(ENG):c.96T>C (p.Leu32=)
|
|
|
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
|
rs1830566735
|
|
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
|
|
|
NM_001114753.3(ENG):c.974T>A (p.Leu325His)
|
|
|
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
|
|
|
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)
|
rs1588581338
|
|
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys)
|
rs1280918470
|
|
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
|
|
|
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
|
|
|
NM_001114753.3(ENG):c.991+1del
|
|
|
NM_001114753.3(ENG):c.991+2T>C
|
rs1564455554
|
|
NM_001114753.3(ENG):c.991+2T>G
|
rs1564455554
|
|
NM_001114753.3(ENG):c.991+4A>G
|
rs2131886797
|
|
NM_001114753.3(ENG):c.991+7A>G
|
|
|
NM_001114753.3(ENG):c.991+8C>A
|
rs2131886790
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001114753.3(ENG):c.992-2A>G
|
rs1588580932
|
|
NM_001114753.3(ENG):c.992-3C>G
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-3C>T
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-49_1046del
|
|
|
NM_001114753.3(ENG):c.992-4A>G
|
rs1316539915
|
|
NM_001114753.3(ENG):c.992-5C>A
|
rs765715581
|
|
NM_001114753.3(ENG):c.992-6C>T
|
rs756890201
|
|
NM_001114753.3(ENG):c.992-8C>T
|
|
|
NM_001114753.3(ENG):c.992G>T (p.Gly331Val)
|
|
|
NM_001114753.3(ENG):c.996T>C (p.Gly332=)
|
rs759964114
|
|
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)
|
rs2131886094
|
|
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
|
|
|
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)
|
|
|
NM_001364075.2(CCNH):c.934-28498_934-28494del
|
|
|
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs)
|
rs1554048061
|
|
NM_002890.3(RASA1):c.1000G>C (p.Asp334His)
|
|
|
NM_002890.3(RASA1):c.1017+14T>G
|
|
|
NM_002890.3(RASA1):c.1017delinsTTAC (p.Val339_Gly340insTyr)
|
rs1758104033
|
|
NM_002890.3(RASA1):c.1018-15A>C
|
|
|
NM_002890.3(RASA1):c.1018-19C>T
|
|
|
NM_002890.3(RASA1):c.1018-3T>C
|
|
|
NM_002890.3(RASA1):c.1019G>T (p.Gly340Val)
|
|
|
NM_002890.3(RASA1):c.1020C>T (p.Gly340=)
|
rs1356089893
|
|
NM_002890.3(RASA1):c.1021C>T (p.Arg341Trp)
|
|
|
NM_002890.3(RASA1):c.1023G>A (p.Arg341=)
|
rs2112398085
|
|
NM_002890.3(RASA1):c.1029A>G (p.Glu343=)
|
|
|
NM_002890.3(RASA1):c.1049+13T>C
|
|
|
NM_002890.3(RASA1):c.1049+14A>T
|
rs2112398215
|
|
NM_002890.3(RASA1):c.1049+5G>T
|
rs1580307103
|
|
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
|
rs1758886343
|
|
NM_002890.3(RASA1):c.1053G>A (p.Trp351Ter)
|
|
|
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
|
rs2112414697
|
|
NM_002890.3(RASA1):c.1092A>G (p.Leu364=)
|
|
|
NM_002890.3(RASA1):c.1092A>T (p.Leu364Phe)
|
rs375419221
|
|
NM_002890.3(RASA1):c.1099A>G (p.Thr367Ala)
|
|
|
NM_002890.3(RASA1):c.1102+4C>T
|
|
|
NM_002890.3(RASA1):c.1102+6T>A
|
|
|
NM_002890.3(RASA1):c.1103-14C>G
|
|
|
NM_002890.3(RASA1):c.1110A>G (p.Gln370=)
|
|
|
NM_002890.3(RASA1):c.1113C>G (p.Val371=)
|
|
|
NM_002890.3(RASA1):c.1116C>T (p.Cys372=)
|
rs2112421478
|
|
NM_002890.3(RASA1):c.111G>C (p.Lys37Asn)
|
|
|
NM_002890.3(RASA1):c.1130_1144dup (p.Asn381_Thr382insArgProSerAspAsn)
|
|
|
NM_002890.3(RASA1):c.1134del (p.Ser379fs)
|
|
|
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp)
|
rs1060503437
|
|
NM_002890.3(RASA1):c.1151G>C (p.Gly384Ala)
|
|
|
NM_002890.3(RASA1):c.1158T>C (p.Tyr386=)
|
|
|
NM_002890.3(RASA1):c.1161A>C (p.Ser387=)
|
|
|
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)
|
rs1759087658
|
|
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
|
|
|
NM_002890.3(RASA1):c.1185T>C (p.Asn395=)
|
rs2112421663
|
|
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
|
|
|
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
|
|
|
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter)
|
rs1210180190
|
|
NM_002890.3(RASA1):c.1203A>G (p.Ile401Met)
|
|
|
NM_002890.3(RASA1):c.1210A>G (p.Thr404Ala)
|
|
|
NM_002890.3(RASA1):c.1211C>T (p.Thr404Met)
|
|
|
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
|
rs1759092483
|
|
NM_002890.3(RASA1):c.1219A>T (p.Asn407Tyr)
|
rs763292074
|
|
NM_002890.3(RASA1):c.1220_1223del (p.Asn407fs)
|
|
|
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)
|
rs1759093156
|
|
NM_002890.3(RASA1):c.123C>G (p.Ala41=)
|
|
|
NM_002890.3(RASA1):c.123C>T (p.Ala41=)
|
|
|
NM_002890.3(RASA1):c.1241G>A (p.Arg414Gln)
|
|
|
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter)
|
rs1561300506
|
|
NM_002890.3(RASA1):c.1253+17dup
|
|
|
NM_002890.3(RASA1):c.1253+19G>A
|
rs374702293
|
|
NM_002890.3(RASA1):c.1253+2T>C
|
|
|
NM_002890.3(RASA1):c.1253+5A>G
|
|
|
NM_002890.3(RASA1):c.1253+6T>C
|
rs2112421845
|
|
NM_002890.3(RASA1):c.1254-11T>C
|
|
|
NM_002890.3(RASA1):c.1254-12T>G
|
|
|
NM_002890.3(RASA1):c.1254-19G>C
|
rs2112431607
|
|
NM_002890.3(RASA1):c.1255A>G (p.Ile419Val)
|
|
|
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)
|
rs1759404954
|
|
NM_002890.3(RASA1):c.1260G>A (p.Gly420=)
|
|
|
NM_002890.3(RASA1):c.1261G>A (p.Asp421Asn)
|
|
|
NM_002890.3(RASA1):c.1263C>T (p.Asp421=)
|
rs2112431699
|
|
NM_002890.3(RASA1):c.1267A>G (p.Ile423Val)
|
|
|
NM_002890.3(RASA1):c.1279C>A (p.Arg427=)
|
|
|
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter)
|
rs975191415
|
|
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
|
rs1759407260
|
|
NM_002890.3(RASA1):c.129T>C (p.Pro43=)
|
|
|
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
|
rs753506212
|
|
NM_002890.3(RASA1):c.1302A>C (p.Gly434=)
|
|
|
NM_002890.3(RASA1):c.1306T>A (p.Tyr436Asn)
|
|
|
NM_002890.3(RASA1):c.1319del (p.Pro440fs)
|
rs2112431809
|
|
NM_002890.3(RASA1):c.1321G>A (p.Val441Ile)
|
|
|
NM_002890.3(RASA1):c.1325C>T (p.Pro442Leu)
|
|
|
NM_002890.3(RASA1):c.1327A>G (p.Met443Val)
|
|
|
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
|
|
|
NM_002890.3(RASA1):c.1332+11C>G
|
|
|
NM_002890.3(RASA1):c.1332+2T>G
|
rs1759410564
|
|
NM_002890.3(RASA1):c.1332+3C>G
|
|
|
NM_002890.3(RASA1):c.1333-10dup
|
rs775819060
|
|
NM_002890.3(RASA1):c.1333-13T>C
|
|
|
NM_002890.3(RASA1):c.1333-17_1340del
|
rs1760184679
|
|
NM_002890.3(RASA1):c.1333-18A>G
|
rs2112456229
|
|
NM_002890.3(RASA1):c.1333-19A>T
|
|
|
NM_002890.3(RASA1):c.1335T>C (p.Asp445=)
|
|
|
NM_002890.3(RASA1):c.1336C>G (p.Gln446Glu)
|
rs2112456363
|
|
NM_002890.3(RASA1):c.1336C>T (p.Gln446Ter)
|
rs2112456363
|
|
NM_002890.3(RASA1):c.1339_1352del (p.Gln446_Glu447insTer)
|
|
|
NM_002890.3(RASA1):c.1341A>G (p.Glu447=)
|
|
|
NM_002890.3(RASA1):c.1345G>C (p.Val449Leu)
|
|
|
NM_002890.3(RASA1):c.1347A>G (p.Val449=)
|
rs2112456458
|
|
NM_002890.3(RASA1):c.1349T>C (p.Leu450Pro)
|
|
|
NM_002890.3(RASA1):c.1355A>C (p.Asp452Ala)
|
|
|
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs)
|
rs1060503439
|
|
NM_002890.3(RASA1):c.1362G>A (p.Val454=)
|
|
|
NM_002890.3(RASA1):c.1363G>A (p.Asp455Asn)
|
|
|
NM_002890.3(RASA1):c.1377C>T (p.Ile459=)
|
|
|
NM_002890.3(RASA1):c.1389C>A (p.Ile463=)
|
|
|
NM_002890.3(RASA1):c.1389C>T (p.Ile463=)
|
rs2112456838
|
|
NM_002890.3(RASA1):c.138C>T (p.Ala46=)
|
|
|
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
|
rs1760197131
|
|
NM_002890.3(RASA1):c.1394G>T (p.Arg465Leu)
|
|
|
NM_002890.3(RASA1):c.1413T>A (p.Phe471Leu)
|
|
|
NM_002890.3(RASA1):c.1413T>C (p.Phe471=)
|
|
|
NM_002890.3(RASA1):c.141C>G (p.Ala47=)
|
|
|
NM_002890.3(RASA1):c.1429A>T (p.Lys477Ter)
|
|
|
NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)
|
|
|
NM_002890.3(RASA1):c.142C>T (p.Pro48Ser)
|
|
|
NM_002890.3(RASA1):c.1438T>C (p.Tyr480His)
|
|
|
NM_002890.3(RASA1):c.143C>A (p.Pro48His)
|
rs1580178676
|
|
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
|
rs1580178676
|
|
NM_002890.3(RASA1):c.1444C>T (p.Leu482=)
|
rs1435317488
|
|
NM_002890.3(RASA1):c.144C>T (p.Pro48=)
|
|
|
NM_002890.3(RASA1):c.1453+10G>A
|
|
|
NM_002890.3(RASA1):c.1453+15_1453+16del
|
rs777254176
|
|
NM_002890.3(RASA1):c.1453+19C>T
|
rs2112457518
|
|
NM_002890.3(RASA1):c.1453+20A>T
|
|
|
NM_002890.3(RASA1):c.1453+20dup
|
|
|
NM_002890.3(RASA1):c.1453+2T>C
|
|
|
NM_002890.3(RASA1):c.1453+8C>T
|
|
|
NM_002890.3(RASA1):c.1453G>A (p.Gly485Ser)
|
|
|
NM_002890.3(RASA1):c.1454-12_1454-7del
|
rs60835976
|
|
NM_002890.3(RASA1):c.1454-13T>G
|
|
|
NM_002890.3(RASA1):c.1454-19_1454-18del
|
rs1417225762
|
|
NM_002890.3(RASA1):c.1454-20_1454-18del
|
rs961769740
|
|
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.1463A>G (p.Lys488Arg)
|
|
|
NM_002890.3(RASA1):c.1464A>G (p.Lys488=)
|
|
|
NM_002890.3(RASA1):c.1467T>C (p.Arg489=)
|
|
|
NM_002890.3(RASA1):c.1479A>G (p.Leu493=)
|
|
|
NM_002890.3(RASA1):c.149C>T (p.Pro50Leu)
|
|
|
NM_002890.3(RASA1):c.1504G>A (p.Ala502Thr)
|
|
|
NM_002890.3(RASA1):c.1504_1505delinsTT (p.Ala502Phe)
|
rs2112459571
|
|
NM_002890.3(RASA1):c.1509A>G (p.Gln503=)
|
|
|
NM_002890.3(RASA1):c.1512T>C (p.Leu504=)
|
|
|
NM_002890.3(RASA1):c.1527C>T (p.Ser509=)
|
|
|
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter)
|
rs1554048066
|
|
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
|
rs1760264098
|
|
NM_002890.3(RASA1):c.1544A>G (p.Lys515Arg)
|
|
|
NM_002890.3(RASA1):c.154C>G (p.Leu52Val)
|
|
|
NM_002890.3(RASA1):c.1556T>G (p.Leu519Ter)
|
|
|
NM_002890.3(RASA1):c.1561_1562dup (p.Asp521fs)
|
|
|
NM_002890.3(RASA1):c.1577del (p.Ser526fs)
|
|
|
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)
|
rs1760265136
|
|
NM_002890.3(RASA1):c.157G>C (p.Val53Leu)
|
rs2112222387
|
|
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=)
|
rs1448608354
|
|
NM_002890.3(RASA1):c.1599T>C (p.Ser533=)
|
|
|
NM_002890.3(RASA1):c.1610+20T>C
|
|
|
NM_002890.3(RASA1):c.1610+3A>G
|
|
|
NM_002890.3(RASA1):c.1610+8A>G
|
|
|
NM_002890.3(RASA1):c.1611-14T>C
|
rs2112474644
|
|
NM_002890.3(RASA1):c.1611-15G>A
|
rs1760796647
|
|
NM_002890.3(RASA1):c.1611-17T>C
|
|
|
NM_002890.3(RASA1):c.1611-2del
|
rs973746295
|
|
NM_002890.3(RASA1):c.1615A>C (p.Asn539His)
|
|
|
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
|
rs1760799694
|
|
NM_002890.3(RASA1):c.163A>G (p.Thr55Ala)
|
rs1335075421
|
|
NM_002890.3(RASA1):c.1642T>C (p.Phe548Leu)
|
|
|
NM_002890.3(RASA1):c.1644T>G (p.Phe548Leu)
|
rs749876769
|
|
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys)
|
rs878854568
|
|
NM_002890.3(RASA1):c.1653A>C (p.Glu551Asp)
|
|
|
NM_002890.3(RASA1):c.1654C>T (p.His552Tyr)
|
|
|
NM_002890.3(RASA1):c.1657T>G (p.Tyr553Asp)
|
|
|
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)
|
rs747745016
|
|
NM_002890.3(RASA1):c.1661T>A (p.Ile554Asn)
|
|
|
NM_002890.3(RASA1):c.1665T>C (p.Phe555=)
|
|
|
NM_002890.3(RASA1):c.1671T>C (p.Phe557=)
|
|
|
NM_002890.3(RASA1):c.1673C>A (p.Ala558Glu)
|
|
|
NM_002890.3(RASA1):c.1683T>C (p.Thr561=)
|
|
|
NM_002890.3(RASA1):c.1698+16C>A
|
|
|
NM_002890.3(RASA1):c.1698+2T>C
|
rs1561316757
|
|
NM_002890.3(RASA1):c.1698+3A>G
|
|
|
NM_002890.3(RASA1):c.1698+5G>A
|
|
|
NM_002890.3(RASA1):c.1698+6A>G
|
|
|
NM_002890.3(RASA1):c.1698+7T>C
|
|
|
NM_002890.3(RASA1):c.1698+7_1698+8delinsCA
|
|
|
NM_002890.3(RASA1):c.169G>A (p.Val57Met)
|
rs2112222422
|
|
NM_002890.3(RASA1):c.1707G>A (p.Met569Ile)
|
rs2112480036
|
|
NM_002890.3(RASA1):c.1710A>G (p.Lys570=)
|
|
|
NM_002890.3(RASA1):c.1716G>C (p.Leu572=)
|
|
|
NM_002890.3(RASA1):c.1719G>C (p.Gln573His)
|
rs1760995498
|
|
NM_002890.3(RASA1):c.171G>A (p.Val57=)
|
rs750118245
|
|
NM_002890.3(RASA1):c.171G>C (p.Val57=)
|
|
|
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
|
rs2112222433
|
|
NM_002890.3(RASA1):c.1745G>A (p.Ser582Asn)
|
|
|
NM_002890.3(RASA1):c.1751G>A (p.Gly584Glu)
|
rs2112480098
|
|
NM_002890.3(RASA1):c.1754C>T (p.Thr585Ile)
|
|
|
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser)
|
rs894219060
|
|
NM_002890.3(RASA1):c.1762A>C (p.Lys588Gln)
|
rs2112480128
|
|
NM_002890.3(RASA1):c.1771C>T (p.Arg591Cys)
|
|
|
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
|
rs1760998312
|
|
NM_002890.3(RASA1):c.1774C>A (p.Gln592Lys)
|
rs1173108838
|
|
NM_002890.3(RASA1):c.1776+4A>G
|
|
|
NM_002890.3(RASA1):c.1776+5A>G
|
rs1294232515
|
|
NM_002890.3(RASA1):c.1777-15_1777-14insATA
|
rs202147617
|
|
NM_002890.3(RASA1):c.1777-15_1777-14insATT
|
rs2112484603
|
|
NM_002890.3(RASA1):c.1777-17dup
|
rs1761148482
|
|
NM_002890.3(RASA1):c.1777-18A>G
|
|
|
NM_002890.3(RASA1):c.1777-18A>T
|
rs779403478
|
|
NM_002890.3(RASA1):c.1777-20_1777-14del
|
|
|
NM_002890.3(RASA1):c.1777-21_1777-17del
|
rs1761146991
|
|
NM_002890.3(RASA1):c.1777-2A>T
|
rs1361155142
|
|
NM_002890.3(RASA1):c.1777-3T>A
|
rs1580380301
|
|
NM_002890.3(RASA1):c.1777-3del
|
rs377722838
|
|
NM_002890.3(RASA1):c.1777-3dup
|
rs377722838
|
|
NM_002890.3(RASA1):c.1777-7T>G
|
rs2112484670
|
|
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
|
rs1761152940
|
|
NM_002890.3(RASA1):c.1784G>C (p.Ser595Thr)
|
|
|
NM_002890.3(RASA1):c.1795C>T (p.His599Tyr)
|
rs2112484750
|
|
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)
|
rs1761153296
|
|
NM_002890.3(RASA1):c.1796A>C (p.His599Pro)
|
rs2112484763
|
|
NM_002890.3(RASA1):c.1798A>G (p.Ile600Val)
|
|
|
NM_002890.3(RASA1):c.17_28del (p.Ala6_Glu9del)
|
rs2112221984
|
|
NM_002890.3(RASA1):c.17_31del (p.Ala6_Glu10del)
|
|
|
NM_002890.3(RASA1):c.1802AAG[1] (p.Glu602del)
|
|
|
NM_002890.3(RASA1):c.1806_1817del (p.Glu602_Leu606delinsAsp)
|
rs2112484781
|
|
NM_002890.3(RASA1):c.1818C>T (p.Leu606=)
|
|
|
NM_002890.3(RASA1):c.1828C>T (p.His610Tyr)
|
|
|
NM_002890.3(RASA1):c.1833T>C (p.Phe611=)
|
|
|
NM_002890.3(RASA1):c.1835C>T (p.Thr612Ile)
|
|
|
NM_002890.3(RASA1):c.1839T>C (p.Asn613=)
|
rs1266113061
|
|
NM_002890.3(RASA1):c.1852A>G (p.Ile618Val)
|
|
|
NM_002890.3(RASA1):c.1857C>T (p.Tyr619=)
|
|
|
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro)
|
rs1554049169
|
|
NM_002890.3(RASA1):c.1864A>G (p.Ser622Gly)
|
|
|
NM_002890.3(RASA1):c.1873G>C (p.Val625Leu)
|
|
|
NM_002890.3(RASA1):c.1874T>C (p.Val625Ala)
|
rs780784579
|
|
NM_002890.3(RASA1):c.1886A>T (p.His629Leu)
|
|
|
NM_002890.3(RASA1):c.1887T>C (p.His629=)
|
|
|
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro)
|
rs1580380538
|
|
NM_002890.3(RASA1):c.188G>T (p.Gly63Val)
|
rs754945616
|
|
NM_002890.3(RASA1):c.1890A>G (p.Ala630=)
|
|
|
NM_002890.3(RASA1):c.1897G>A (p.Gly633Arg)
|
|
|
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
|
rs1761159517
|
|
NM_002890.3(RASA1):c.1915T>A (p.Ser639Thr)
|
rs2112485002
|
|
NM_002890.3(RASA1):c.1916C>G (p.Ser639Ter)
|
|
|
NM_002890.3(RASA1):c.1917A>G (p.Ser639=)
|
|
|
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
|
rs2112485022
|
|
NM_002890.3(RASA1):c.1932dup (p.Asp645Ter)
|
|
|
NM_002890.3(RASA1):c.1934+11T>C
|
|
|
NM_002890.3(RASA1):c.1934+17_1934+19del
|
|
|
NM_002890.3(RASA1):c.1934+2T>G
|
rs1761160392
|
|
NM_002890.3(RASA1):c.1934+6T>C
|
|
|
NM_002890.3(RASA1):c.1934+8T>G
|
rs2112485081
|
|
NM_002890.3(RASA1):c.1935-14C>T
|
rs749192205
|
|
NM_002890.3(RASA1):c.1935-19T>C
|
|
|
NM_002890.3(RASA1):c.1935-3T>G
|
rs201249348
|
|
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
|
rs1761214742
|
|
NM_002890.3(RASA1):c.1955A>G (p.Asn652Ser)
|
|
|
NM_002890.3(RASA1):c.1956T>C (p.Asn652=)
|
rs2112486940
|
|
NM_002890.3(RASA1):c.195C>T (p.Ala65=)
|
rs184163840
|
|
NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs)
|
rs2112486996
|
|
NM_002890.3(RASA1):c.1990_1994del (p.Lys664fs)
|
|
|
NM_002890.3(RASA1):c.1994G>A (p.Ser665Asn)
|
|
|
NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)
|
|
|
NM_002890.3(RASA1):c.1A>G (p.Met1Val)
|
|
|
NM_002890.3(RASA1):c.2011+10T>C
|
|
|
NM_002890.3(RASA1):c.2011+12_2011+13dup
|
|
|
NM_002890.3(RASA1):c.2011+15A>G
|
|
|
NM_002890.3(RASA1):c.2011+1G>A
|
|
|
NM_002890.3(RASA1):c.2011+1G>T
|
|
|
NM_002890.3(RASA1):c.2011+6T>A
|
rs1554049237
|
|
NM_002890.3(RASA1):c.2012-15_2012-12del
|
|
|
NM_002890.3(RASA1):c.2012-17T>G
|
|
|
NM_002890.3(RASA1):c.2012-18C>T
|
|
|
NM_002890.3(RASA1):c.2012-1G>A
|
rs2112490726
|
|
NM_002890.3(RASA1):c.2012-20T>C
|
|
|
NM_002890.3(RASA1):c.2012-2A>G
|
rs2112490719
|
|
NM_002890.3(RASA1):c.2012-7T>C
|
|
|
NM_002890.3(RASA1):c.2013A>T (p.Leu671Phe)
|
|
|
NM_002890.3(RASA1):c.2021G>A (p.Arg674His)
|
|
|
NM_002890.3(RASA1):c.2027A>C (p.Gln676Pro)
|
rs1425470015
|
|
NM_002890.3(RASA1):c.2027A>T (p.Gln676Leu)
|
|
|
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg)
|
rs1580178771
|
|
NM_002890.3(RASA1):c.202G>C (p.Gly68Arg)
|
|
|
NM_002890.3(RASA1):c.2030T>G (p.Leu677Trp)
|
|
|
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter)
|
rs1554049394
|
|
NM_002890.3(RASA1):c.2036G>A (p.Arg679Gln)
|
|
|
NM_002890.3(RASA1):c.2049G>C (p.Gly683=)
|
rs886060841
|
|
NM_002890.3(RASA1):c.2052T>C (p.His684=)
|
rs998050505
|
|
NM_002890.3(RASA1):c.2067G>C (p.Trp689Cys)
|
|
|
NM_002890.3(RASA1):c.2070T>A (p.Phe690Leu)
|
|
|
NM_002890.3(RASA1):c.2077A>G (p.Ser693Gly)
|
|
|
NM_002890.3(RASA1):c.2083C>T (p.His695Tyr)
|
|
|
NM_002890.3(RASA1):c.2084A>T (p.His695Leu)
|
|
|
NM_002890.3(RASA1):c.2087T>C (p.Ile696Thr)
|
rs2112490891
|
|
NM_002890.3(RASA1):c.2088A>G (p.Ile696Met)
|
|
|
NM_002890.3(RASA1):c.2089C>A (p.Pro697Thr)
|
rs759711265
|
|
NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)
|
|
|
NM_002890.3(RASA1):c.2092T>C (p.Leu698=)
|
|
|
NM_002890.3(RASA1):c.2102T>C (p.Ile701Thr)
|
|
|
NM_002890.3(RASA1):c.2112G>A (p.Gly704=)
|
rs374292148
|
|
NM_002890.3(RASA1):c.2112G>T (p.Gly704=)
|
rs374292148
|
|
NM_002890.3(RASA1):c.2116C>T (p.Leu706=)
|
|
|
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu)
|
rs2112222520
|
|
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter)
|
rs1554049422
|
|
NM_002890.3(RASA1):c.2126G>A (p.Arg709Gln)
|
|
|
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)
|
rs863223718
|
|
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
|
rs1027956355
|
|
NM_002890.3(RASA1):c.2136C>G (p.Tyr712Ter)
|
|
|
NM_002890.3(RASA1):c.2136C>T (p.Tyr712=)
|
|
|
NM_002890.3(RASA1):c.2145A>C (p.Glu715Asp)
|
|
|
NM_002890.3(RASA1):c.2149dup (p.Ile717fs)
|
rs1561322357
|
|
NM_002890.3(RASA1):c.2155C>A (p.Pro719Thr)
|
|
|
NM_002890.3(RASA1):c.2160A>C (p.Glu720Asp)
|
|
|
NM_002890.3(RASA1):c.2160A>G (p.Glu720=)
|
|
|
NM_002890.3(RASA1):c.2161G>A (p.Glu721Lys)
|
|
|
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)
|
rs1761341113
|
|
NM_002890.3(RASA1):c.2184+13_2184+14dup
|
|
|
NM_002890.3(RASA1):c.2184+14T>G
|
|
|
NM_002890.3(RASA1):c.2184+15A>C
|
|
|
NM_002890.3(RASA1):c.2184+15A>G
|
|
|
NM_002890.3(RASA1):c.2185-17_2185-16del
|
|
|
NM_002890.3(RASA1):c.2191C>A (p.Leu731Met)
|
|
|
NM_002890.3(RASA1):c.2200G>C (p.Glu734Gln)
|
|
|
NM_002890.3(RASA1):c.2208T>C (p.His736=)
|
rs756153877
|
|
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser)
|
rs980967533
|
|
NM_002890.3(RASA1):c.2210T>C (p.Val737Ala)
|
|
|
NM_002890.3(RASA1):c.2232A>G (p.Val744=)
|
|
|
NM_002890.3(RASA1):c.2235T>C (p.Cys745=)
|
rs2112492112
|
|
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys)
|
rs1561322754
|
|
NM_002890.3(RASA1):c.223G>C (p.Gly75Arg)
|
rs1336430934
|
|
NM_002890.3(RASA1):c.2251C>T (p.Leu751=)
|
|
|
NM_002890.3(RASA1):c.2263A>G (p.Ile755Val)
|
rs1180041614
|
|
NM_002890.3(RASA1):c.2268A>T (p.Leu756=)
|
|
|
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
|
|
|
NM_002890.3(RASA1):c.2287G>A (p.Glu763Lys)
|
|
|
NM_002890.3(RASA1):c.2294T>G (p.Leu765Arg)
|
|
|
NM_002890.3(RASA1):c.2300C>G (p.Ser767Trp)
|
|
|
NM_002890.3(RASA1):c.2303T>C (p.Leu768Ser)
|
|
|
NM_002890.3(RASA1):c.2304G>A (p.Leu768=)
|
|
|
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
|
|
|
NM_002890.3(RASA1):c.2311T>C (p.Cys771Arg)
|
|
|
NM_002890.3(RASA1):c.2316A>C (p.Thr772=)
|
|
|
NM_002890.3(RASA1):c.2325_2326del (p.Asp775fs)
|
|
|
NM_002890.3(RASA1):c.2329_2330del (p.Glu777fs)
|
rs2112492304
|
|
NM_002890.3(RASA1):c.2344+14A>G
|
|
|
NM_002890.3(RASA1):c.2344+17T>C
|
|
|
NM_002890.3(RASA1):c.2344+20G>C
|
|
|
NM_002890.3(RASA1):c.2344+9T>C
|
|
|
NM_002890.3(RASA1):c.2345-17T>C
|
|
|
NM_002890.3(RASA1):c.2345-18A>C
|
|
|
NM_002890.3(RASA1):c.2345-4G>A
|
|
|
NM_002890.3(RASA1):c.2345-5T>C
|
rs1761467081
|
|
NM_002890.3(RASA1):c.2345-6G>A
|
rs1423456816
|
|
NM_002890.3(RASA1):c.2345-9T>C
|
rs1580390526
|
|
NM_002890.3(RASA1):c.234A>T (p.Ala78=)
|
|
|
NM_002890.3(RASA1):c.2353A>C (p.Thr785Pro)
|
rs2112495513
|
|
NM_002890.3(RASA1):c.2357C>T (p.Thr786Ile)
|
|
|
NM_002890.3(RASA1):c.2358C>G (p.Thr786=)
|
|
|
NM_002890.3(RASA1):c.2361A>G (p.Leu787=)
|
|
|
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
|
rs1761468673
|
|
NM_002890.3(RASA1):c.2377C>T (p.Leu793Phe)
|
rs2112495564
|
|
NM_002890.3(RASA1):c.2380G>C (p.Ala794Pro)
|
rs1360937887
|
|
NM_002890.3(RASA1):c.2387C>A (p.Thr796Asn)
|
|
|
NM_002890.3(RASA1):c.2388del (p.Thr796_Leu797insTer)
|
|
|
NM_002890.3(RASA1):c.2390del (p.Thr796_Leu797insTer)
|
rs2112495582
|
|
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
|
rs764720303
|
|
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
|
|
|
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)
|
rs1761469547
|
|
NM_002890.3(RASA1):c.2403T>C (p.Tyr801=)
|
|
|
NM_002890.3(RASA1):c.240A>G (p.Ala80=)
|
|
|
NM_002890.3(RASA1):c.2410G>A (p.Ala804Thr)
|
rs2112495606
|
|
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
|
rs773960170
|
|
NM_002890.3(RASA1):c.2422C>G (p.Gln808Glu)
|
|
|
NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs)
|
rs2112495617
|
|
NM_002890.3(RASA1):c.2425T>C (p.Phe809Leu)
|
|
|
NM_002890.3(RASA1):c.2446G>T (p.Asp816Tyr)
|
rs1285858795
|
|
NM_002890.3(RASA1):c.2447A>G (p.Asp816Gly)
|
|
|
NM_002890.3(RASA1):c.2448C>A (p.Asp816Glu)
|
rs1218464679
|
|
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
|
rs1252322867
|
|
NM_002890.3(RASA1):c.2449T>G (p.Ser817Ala)
|
rs1252322867
|
|
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)
|
rs767017718
|
|
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
|
|
|
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)
|
rs767017718
|
|
NM_002890.3(RASA1):c.2451dup (p.Ile818fs)
|
rs1761473113
|
|
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val)
|
rs1554049698
|
|
NM_002890.3(RASA1):c.2462T>C (p.Ile821Thr)
|
|
|
NM_002890.3(RASA1):c.246G>A (p.Gly82=)
|
|
|
NM_002890.3(RASA1):c.2487+2T>G
|
rs2112495772
|
|
NM_002890.3(RASA1):c.2488-19_2488-16del
|
|
|
NM_002890.3(RASA1):c.2488-1G>A
|
|
|
NM_002890.3(RASA1):c.2488-22_2488-16del
|
|
|
NM_002890.3(RASA1):c.2488-3del
|
|
|
NM_002890.3(RASA1):c.2488-7_2488-4del
|
|
|
NM_002890.3(RASA1):c.2488-7_2488-5del
|
|
|
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
|
rs755788420
|
|
NM_002890.3(RASA1):c.2491A>C (p.Ser831Arg)
|
|
|
NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)
|
|
|
NM_002890.3(RASA1):c.2504T>C (p.Leu835Ser)
|
rs1445029428
|
|
NM_002890.3(RASA1):c.2505A>G (p.Leu835=)
|
|
|
NM_002890.3(RASA1):c.250G>A (p.Ala84Thr)
|
|
|
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
|
|
|
NM_002890.3(RASA1):c.251C>T (p.Ala84Val)
|
|
|
NM_002890.3(RASA1):c.2520T>C (p.Asp840=)
|
|
|
NM_002890.3(RASA1):c.2527A>G (p.Thr843Ala)
|
|
|
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter)
|
rs878854569
|
|
NM_002890.3(RASA1):c.2532T>C (p.Asn844=)
|
|
|
NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT (p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer)
|
|
|
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
|
rs754858818
|
|
NM_002890.3(RASA1):c.2541C>T (p.His847=)
|
|
|
NM_002890.3(RASA1):c.2544A>G (p.Leu848=)
|
|
|
NM_002890.3(RASA1):c.2546T>C (p.Leu849Ser)
|
|
|
NM_002890.3(RASA1):c.2552T>C (p.Ile851Thr)
|
|
|
NM_002890.3(RASA1):c.2557dup (p.Ser853fs)
|
rs1554049825
|
|
NM_002890.3(RASA1):c.2568G>A (p.Val856=)
|
|
|
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
|
rs1761583366
|
|
NM_002890.3(RASA1):c.2594T>C (p.Ile865Thr)
|
|
|
NM_002890.3(RASA1):c.2603+1G>A
|
rs983011713
|
|
NM_002890.3(RASA1):c.2603+2dup
|
rs1580394003
|
|
NM_002890.3(RASA1):c.2603+4A>T
|
|
|
NM_002890.3(RASA1):c.2603+9T>A
|
|
|
NM_002890.3(RASA1):c.2604-15G>A
|
|
|
NM_002890.3(RASA1):c.2604-15G>T
|
|
|
NM_002890.3(RASA1):c.2616T>C (p.Tyr872=)
|
|
|
NM_002890.3(RASA1):c.261A>G (p.Thr87=)
|
rs775947669
|
|
NM_002890.3(RASA1):c.2620dup (p.Tyr874fs)
|
|
|
NM_002890.3(RASA1):c.2625del (p.Cys876fs)
|
|
|
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg)
|
rs369735817
|
|
NM_002890.3(RASA1):c.262G>C (p.Gly88Arg)
|
|
|
NM_002890.3(RASA1):c.2639C>G (p.Ser880Cys)
|
|
|
NM_002890.3(RASA1):c.263G>C (p.Gly88Ala)
|
|
|
NM_002890.3(RASA1):c.2648_2655del (p.His883fs)
|
rs2112500780
|
|
NM_002890.3(RASA1):c.2656C>T (p.Pro886Ser)
|
rs1359038183
|
|
NM_002890.3(RASA1):c.2659A>G (p.Thr887Ala)
|
|
|
NM_002890.3(RASA1):c.2662A>G (p.Asn888Asp)
|
|
|
NM_002890.3(RASA1):c.267A>T (p.Gly89=)
|
|
|
NM_002890.3(RASA1):c.2680A>G (p.Arg894Gly)
|
rs2112500864
|
|
NM_002890.3(RASA1):c.2681G>A (p.Arg894Lys)
|
|
|
NM_002890.3(RASA1):c.2690+10A>T
|
|
|
NM_002890.3(RASA1):c.2690+11_2690+13del
|
|
|
NM_002890.3(RASA1):c.2690+12C>A
|
|
|
NM_002890.3(RASA1):c.2690+14A>G
|
|
|
NM_002890.3(RASA1):c.2690+15T>C
|
|
|
NM_002890.3(RASA1):c.2690+20T>G
|
|
|
NM_002890.3(RASA1):c.2690+4A>G
|
rs2112500896
|
|
NM_002890.3(RASA1):c.2691-16T>A
|
|
|
NM_002890.3(RASA1):c.2691-18A>T
|
rs1342566616
|
|
NM_002890.3(RASA1):c.2691-1G>C
|
|
|
NM_002890.3(RASA1):c.2691-4T>C
|
rs201365157
|
|
NM_002890.3(RASA1):c.2691-6A>G
|
rs745758645
|
|
NM_002890.3(RASA1):c.2697T>C (p.Phe899=)
|
|
|
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs)
|
rs886041232
|
|
NM_002890.3(RASA1):c.2700T>C (p.Val900=)
|
rs2112509018
|
|
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter)
|
rs1554050230
|
|
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln)
|
rs2112509032
|
|
NM_002890.3(RASA1):c.2712C>T (p.Leu904=)
|
|
|
NM_002890.3(RASA1):c.2715C>T (p.Ile905=)
|
|
|
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
|
|
|
NM_002890.3(RASA1):c.2723C>G (p.Ala908Gly)
|
rs1761886517
|
|
NM_002890.3(RASA1):c.2724C>T (p.Ala908=)
|
rs576034504
|
|
NM_002890.3(RASA1):c.2724del (p.Ile909fs)
|
|
|
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
|
|
|
NM_002890.3(RASA1):c.2730G>A (p.Leu910=)
|
|
|
NM_002890.3(RASA1):c.2733T>A (p.Asn911Lys)
|
rs766721039
|
|
NM_002890.3(RASA1):c.2739G>C (p.Arg913=)
|
rs375135791
|
|
NM_002890.3(RASA1):c.2739G>T (p.Arg913=)
|
rs375135791
|
|
NM_002890.3(RASA1):c.2742G>A (p.Met914Ile)
|
|
|
NM_002890.3(RASA1):c.2752A>G (p.Ile918Val)
|
|
|
NM_002890.3(RASA1):c.2758+15A>G
|
|
|
NM_002890.3(RASA1):c.2758+20T>C
|
|
|
NM_002890.3(RASA1):c.2758+8G>C
|
|
|
NM_002890.3(RASA1):c.2759-11T>A
|
|
|
NM_002890.3(RASA1):c.2759-12A>G
|
|
|
NM_002890.3(RASA1):c.2759-15C>G
|
rs771148834
|
|
NM_002890.3(RASA1):c.2759-16C>T
|
|
|
NM_002890.3(RASA1):c.2759-19G>A
|
|
|
NM_002890.3(RASA1):c.2759-20T>A
|
|
|
NM_002890.3(RASA1):c.2759-3_2759-2del
|
|
|
NM_002890.3(RASA1):c.2759-5T>G
|
|
|
NM_002890.3(RASA1):c.2759-7G>A
|
|
|
NM_002890.3(RASA1):c.2759-7G>T
|
|
|
NM_002890.3(RASA1):c.2766A>G (p.Pro922=)
|
|
|
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser)
|
rs1554050426
|
|
NM_002890.3(RASA1):c.2795dup (p.Leu932fs)
|
|
|
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
|
rs1205377315
|
|
NM_002890.3(RASA1):c.2808T>G (p.Ser936=)
|
|
|
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)
|
rs1761994695
|
|
NM_002890.3(RASA1):c.2814G>A (p.Gln938=)
|
|
|
NM_002890.3(RASA1):c.2828T>C (p.Leu943Pro)
|
|
|
NM_002890.3(RASA1):c.2847+1G>A
|
rs1060503438
|
|
NM_002890.3(RASA1):c.2848-10T>C
|
|
|
NM_002890.3(RASA1):c.2848-17A>G
|
|
|
NM_002890.3(RASA1):c.2848-18A>C
|
|
|
NM_002890.3(RASA1):c.2856C>T (p.Tyr952=)
|
|
|
NM_002890.3(RASA1):c.2858T>C (p.Met953Thr)
|
|
|
NM_002890.3(RASA1):c.285A>G (p.Val95=)
|
|
|
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1])
|
rs745572583
|
|
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs)
|
rs1561331089
|
|
NM_002890.3(RASA1):c.2872C>G (p.Pro958Ala)
|
|
|
NM_002890.3(RASA1):c.2872C>T (p.Pro958Ser)
|
|
|
NM_002890.3(RASA1):c.2873C>T (p.Pro958Leu)
|
|
|
NM_002890.3(RASA1):c.2873del (p.Pro958fs)
|
rs1554050584
|
|
NM_002890.3(RASA1):c.288T>C (p.Ala96=)
|
|
|
NM_002890.3(RASA1):c.288_308del (p.93AGVAGAA[1])
|
|
|
NM_002890.3(RASA1):c.2891_2894del (p.Lys964fs)
|
rs2112517213
|
|
NM_002890.3(RASA1):c.2904C>G (p.Ile968Met)
|
|
|
NM_002890.3(RASA1):c.2906T>G (p.Met969Arg)
|
|
|
NM_002890.3(RASA1):c.2907G>A (p.Met969Ile)
|
|
|
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer)
|
rs878854570
|
|
NM_002890.3(RASA1):c.291T>C (p.Gly97=)
|
rs1201250470
|
|
NM_002890.3(RASA1):c.2920del (p.Asn976fs)
|
rs2112517308
|
|
NM_002890.3(RASA1):c.2925+10T>G
|
|
|
NM_002890.3(RASA1):c.2925+6TA[2]
|
|
|
NM_002890.3(RASA1):c.2925+8T>C
|
|
|
NM_002890.3(RASA1):c.2925+9A>T
|
rs1554050607
|
|
NM_002890.3(RASA1):c.2925G>A (p.Gly975=)
|
|
|
NM_002890.3(RASA1):c.2926-13G>A
|
|
|
NM_002890.3(RASA1):c.2926-14C>G
|
|
|
NM_002890.3(RASA1):c.2926-2_2927del
|
|
|
NM_002890.3(RASA1):c.2926-2_2927dup
|
|
|
NM_002890.3(RASA1):c.2926-2dup
|
rs760483907
|
|
NM_002890.3(RASA1):c.2926-4A>G
|
|
|
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
|
|
|
NM_002890.3(RASA1):c.2942del (p.Pro981fs)
|
|
|
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
|
rs761753589
|
|
NM_002890.3(RASA1):c.2943G>T (p.Pro981=)
|
|
|
NM_002890.3(RASA1):c.2952A>G (p.Thr984=)
|
|
|
NM_002890.3(RASA1):c.2957A>T (p.His986Leu)
|
|
|
NM_002890.3(RASA1):c.2964A>G (p.Arg988=)
|
|
|
NM_002890.3(RASA1):c.2966C>T (p.Thr989Met)
|
|
|
NM_002890.3(RASA1):c.2968del (p.Asp990fs)
|
|
|
NM_002890.3(RASA1):c.2977C>T (p.Arg993Cys)
|
|
|
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
|
|
|
NM_002890.3(RASA1):c.2985A>G (p.Leu995=)
|
|
|
NM_002890.3(RASA1):c.2985A>T (p.Leu995Phe)
|
|
|
NM_002890.3(RASA1):c.2992T>C (p.Leu998=)
|
|
|
NM_002890.3(RASA1):c.2993T>G (p.Leu998Trp)
|
|
|
NM_002890.3(RASA1):c.2997T>A (p.His999Gln)
|
rs2112525098
|
|
NM_002890.3(RASA1):c.299C>T (p.Ala100Val)
|
|
|
NM_002890.3(RASA1):c.299_319del (p.93AGVAGAA[1])
|
|
|
NM_002890.3(RASA1):c.299_319dup (p.93AGVAGAA[3])
|
rs771844907
|
|
NM_002890.3(RASA1):c.299_325del (p.Ala100_Ala108del)
|
|
|
NM_002890.3(RASA1):c.29A>T (p.Glu10Val)
|
|
|
NM_002890.3(RASA1):c.3002T>C (p.Ile1001Thr)
|
|
|
NM_002890.3(RASA1):c.3002T>G (p.Ile1001Ser)
|
|
|
NM_002890.3(RASA1):c.3003T>C (p.Ile1001=)
|
|
|
NM_002890.3(RASA1):c.3007G>A (p.Val1003Met)
|
|
|
NM_002890.3(RASA1):c.3007G>C (p.Val1003Leu)
|
rs758894954
|
|
NM_002890.3(RASA1):c.3009G>C (p.Val1003=)
|
rs778423443
|
|
NM_002890.3(RASA1):c.300T>C (p.Ala100=)
|
|
|
NM_002890.3(RASA1):c.3011C>T (p.Ala1004Val)
|
rs2112525174
|
|
NM_002890.3(RASA1):c.3020_3021insATGA (p.Asp1007delinsGluTer)
|
|
|
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)
|
rs1762317272
|
|
NM_002890.3(RASA1):c.302G>A (p.Gly101Asp)
|
rs2112222782
|
|
NM_002890.3(RASA1):c.302_322del (p.Gly101_Val107del)
|
rs1258942509
|
|
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
|
rs768241743
|
|
NM_002890.3(RASA1):c.3042T>C (p.Asn1014=)
|
|
|
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter)
|
rs1561333645
|
|
NM_002890.3(RASA1):c.3046C>T (p.Arg1016Cys)
|
|
|
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)
|
rs2112525375
|
|
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)
|
rs1060503440
|
|
NM_002890.3(RASA1):c.3060+10C>G
|
rs768479962
|
|
NM_002890.3(RASA1):c.3060+10C>T
|
rs768479962
|
|
NM_002890.3(RASA1):c.3060+18_3060+20del
|
|
|
NM_002890.3(RASA1):c.3060+1G>A
|
|
|
NM_002890.3(RASA1):c.3060+1G>T
|
rs1580418269
|
|
NM_002890.3(RASA1):c.3060+9dup
|
rs574384512
|
|
NM_002890.3(RASA1):c.3061-17A>G
|
|
|
NM_002890.3(RASA1):c.3061-18C>G
|
rs2112530335
|
|
NM_002890.3(RASA1):c.3063C>T (p.His1021=)
|
|
|
NM_002890.3(RASA1):c.3066A>G (p.Val1022=)
|
|
|
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
|
|
|
NM_002890.3(RASA1):c.3090A>C (p.Thr1030=)
|
rs2112530510
|
|
NM_002890.3(RASA1):c.3090_3140dup (p.Arg1047_Ter1048insGluLeuLeuGlnGlnLysGlnAsnGlnTyrThrLysThrAsnAspValArg)
|
rs2112530518
|
|
NM_002890.3(RASA1):c.3091del (p.Glu1031fs)
|
|
|
NM_002890.3(RASA1):c.3102ACAAAA[1] (p.Lys1036_Gln1037del)
|
rs2112530531
|
|
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)
|
rs1554051094
|
|
NM_002890.3(RASA1):c.310G>A (p.Gly104Ser)
|
rs2112222798
|
|
NM_002890.3(RASA1):c.311G>T (p.Gly104Val)
|
|
|
NM_002890.3(RASA1):c.3131A>G (p.Asn1044Ser)
|
|
|
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=)
|
rs1166197926
|
|
NM_002890.3(RASA1):c.3141_*50dup (p.Arg1047_Ter1048=)
|
|
|
NM_002890.3(RASA1):c.315T>G (p.Ala105=)
|
|
|
NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)
|
|
|
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
|
|
|
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)
|
rs2112222851
|
|
NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)
|
|
|
NM_002890.3(RASA1):c.336A>C (p.Gly112=)
|
|
|
NM_002890.3(RASA1):c.339C>A (p.Asp113Glu)
|
|
|
NM_002890.3(RASA1):c.341T>C (p.Met114Thr)
|
|
|
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly)
|
rs576329276
|
|
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
|
rs1753664187
|
|
NM_002890.3(RASA1):c.34G>T (p.Gly12Cys)
|
rs1753664187
|
|
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu)
|
rs1580179229
|
|
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
|
rs1266753350
|
|
NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
|
|
|
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
|
rs137878395
|
|
NM_002890.3(RASA1):c.363T>C (p.Thr121=)
|
|
|
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
|
rs1187087405
|
|
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
|
|
|
NM_002890.3(RASA1):c.366G>A (p.Ser122=)
|
|
|
NM_002890.3(RASA1):c.36C>T (p.Gly12=)
|
|
|
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
|
|
|
NM_002890.3(RASA1):c.375T>G (p.Ala125=)
|
|
|
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
|
|
|
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
|
|
|
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
|
|
|
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val)
|
rs1554038863
|
|
NM_002890.3(RASA1):c.399T>A (p.Gly133=)
|
|
|
NM_002890.3(RASA1):c.402del (p.Pro136fs)
|
|
|
NM_002890.3(RASA1):c.403C>A (p.Pro135Thr)
|
|
|
NM_002890.3(RASA1):c.404C>T (p.Pro135Leu)
|
|
|
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
|
rs769463654
|
|
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)
|
rs769463654
|
|
NM_002890.3(RASA1):c.414C>T (p.Pro138=)
|
|
|
NM_002890.3(RASA1):c.415C>G (p.Pro139Ala)
|
|
|
NM_002890.3(RASA1):c.417T>G (p.Pro139=)
|
rs1753693500
|
|
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
|
rs751440049
|
|
NM_002890.3(RASA1):c.420C>G (p.Pro140=)
|
|
|
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
|
|
|
NM_002890.3(RASA1):c.429G>A (p.Leu143=)
|
rs1753694457
|
|
NM_002890.3(RASA1):c.42A>T (p.Val14=)
|
|
|
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
|
rs1753694671
|
|
NM_002890.3(RASA1):c.432C>A (p.Pro144=)
|
|
|
NM_002890.3(RASA1):c.432C>G (p.Pro144=)
|
rs1229617577
|
|
NM_002890.3(RASA1):c.432C>T (p.Pro144=)
|
|
|
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
|
|
|
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
|
|
|
NM_002890.3(RASA1):c.435T>A (p.Pro145=)
|
|
|
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
|
|
|
NM_002890.3(RASA1):c.442dup (p.Ala148fs)
|
rs751951068
|
|
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
|
|
|
NM_002890.3(RASA1):c.453G>A (p.Gly151=)
|
|
|
NM_002890.3(RASA1):c.453G>C (p.Gly151=)
|
|
|
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala)
|
rs1753696601
|
|
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
|
|
|
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
|
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
|
|
|
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
|
rs1753698267
|
|
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
|
|
|
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
|
|
|
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu)
|
rs776808856
|
|
NM_002890.3(RASA1):c.516G>A (p.Pro172=)
|
|
|
NM_002890.3(RASA1):c.516G>T (p.Pro172=)
|
rs2112223315
|
|
NM_002890.3(RASA1):c.522C>T (p.Thr174=)
|
rs139686009
|
|
NM_002890.3(RASA1):c.529C>T (p.Pro177Ser)
|
|
|
NM_002890.3(RASA1):c.532A>G (p.Thr178Ala)
|
|
|
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser)
|
rs150804394
|
|
NM_002890.3(RASA1):c.538del (p.Gln180fs)
|
rs2112223340
|
|
NM_002890.3(RASA1):c.539+12C>G
|
|
|
NM_002890.3(RASA1):c.539+1G>C
|
rs2112223349
|
|
NM_002890.3(RASA1):c.539+20C>T
|
|
|
NM_002890.3(RASA1):c.539+2T>G
|
|
|
NM_002890.3(RASA1):c.539+3A>G
|
rs1561245221
|
|
NM_002890.3(RASA1):c.539+4A>G
|
|
|
NM_002890.3(RASA1):c.539+4dup
|
|
|
NM_002890.3(RASA1):c.539+6T>G
|
|
|
NM_002890.3(RASA1):c.540-15_540-14del
|
|
|
NM_002890.3(RASA1):c.540-2A>C
|
rs2112365844
|
|
NM_002890.3(RASA1):c.540-4C>G
|
|
|
NM_002890.3(RASA1):c.549C>A (p.His183Gln)
|
|
|
NM_002890.3(RASA1):c.549C>T (p.His183=)
|
|
|
NM_002890.3(RASA1):c.558T>C (p.Leu186=)
|
|
|
NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)
|
|
|
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)
|
rs1757588488
|
|
NM_002890.3(RASA1):c.583del (p.Leu195fs)
|
|
|
NM_002890.3(RASA1):c.587G>A (p.Arg196Lys)
|
|
|
NM_002890.3(RASA1):c.587G>C (p.Arg196Thr)
|
|
|
NM_002890.3(RASA1):c.599A>T (p.Lys200Met)
|
|
|
NM_002890.3(RASA1):c.600G>A (p.Lys200=)
|
|
|
NM_002890.3(RASA1):c.606C>G (p.Gly202=)
|
rs1187621828
|
|
NM_002890.3(RASA1):c.606C>T (p.Gly202=)
|
|
|
NM_002890.3(RASA1):c.607A>C (p.Ser203Arg)
|
|
|
NM_002890.3(RASA1):c.608G>A (p.Ser203Asn)
|
|
|
NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)
|
|
|
NM_002890.3(RASA1):c.612T>C (p.Tyr204=)
|
rs377014568
|
|
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)
|
rs1060503441
|
|
NM_002890.3(RASA1):c.617_621del (p.Ile206fs)
|
rs2112366112
|
|
NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)
|
|
|
NM_002890.3(RASA1):c.637C>T (p.Pro213Ser)
|
rs2112366190
|
|
NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)
|
|
|
NM_002890.3(RASA1):c.651A>G (p.Val217=)
|
|
|
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)
|
rs1554044823
|
|
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
|
rs1554044823
|
|
NM_002890.3(RASA1):c.669G>A (p.Gln223=)
|
|
|
NM_002890.3(RASA1):c.672G>A (p.Met224Ile)
|
|
|
NM_002890.3(RASA1):c.675T>C (p.Asn225=)
|
|
|
NM_002890.3(RASA1):c.679G>T (p.Val227Phe)
|
|
|
NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)
|
|
|
NM_002890.3(RASA1):c.680T>C (p.Val227Ala)
|
|
|
NM_002890.3(RASA1):c.684C>T (p.Asn228=)
|
rs1286975622
|
|
NM_002890.3(RASA1):c.690T>C (p.Phe230=)
|
|
|
NM_002890.3(RASA1):c.692+10del
|
rs745660568
|
|
NM_002890.3(RASA1):c.692+6T>G
|
|
|
NM_002890.3(RASA1):c.692+8T>C
|
|
|
NM_002890.3(RASA1):c.693-14dup
|
rs776195697
|
|
NM_002890.3(RASA1):c.693-20A>G
|
|
|
NM_002890.3(RASA1):c.693-5A>G
|
rs1757676959
|
|
NM_002890.3(RASA1):c.693-6_711del
|
rs1757676761
|
|
NM_002890.3(RASA1):c.694A>G (p.Ile232Val)
|
|
|
NM_002890.3(RASA1):c.711A>C (p.Gly237=)
|
|
|
NM_002890.3(RASA1):c.735T>G (p.Arg245=)
|
|
|
NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)
|
|
|
NM_002890.3(RASA1):c.754C>T (p.Leu252=)
|
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.75G>C (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.774T>C (p.His258=)
|
|
|
NM_002890.3(RASA1):c.78del (p.Ser27fs)
|
|
|
NM_002890.3(RASA1):c.805C>G (p.Leu269Val)
|
|
|
NM_002890.3(RASA1):c.806_810del (p.Leu269fs)
|
|
|
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
|
|
|
NM_002890.3(RASA1):c.825A>G (p.Pro275=)
|
|
|
NM_002890.3(RASA1):c.828+12G>A
|
|
|
NM_002890.3(RASA1):c.828+1G>A
|
rs2112369549
|
|
NM_002890.3(RASA1):c.828+1G>T
|
|
|
NM_002890.3(RASA1):c.828+5G>T
|
rs2112369561
|
|
NM_002890.3(RASA1):c.828+9A>T
|
|
|
NM_002890.3(RASA1):c.829-11dup
|
rs2112371484
|
|
NM_002890.3(RASA1):c.829-8G>A
|
rs1312152887
|
|
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
|
|
|
NM_002890.3(RASA1):c.839A>G (p.Asp280Gly)
|
|
|
NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)
|
|
|
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)
|
rs137853218
|
|
NM_002890.3(RASA1):c.85G>A (p.Ala29Thr)
|
rs777487947
|
|
NM_002890.3(RASA1):c.85G>T (p.Ala29Ser)
|
|
|
NM_002890.3(RASA1):c.874A>G (p.Lys292Glu)
|
|
|
NM_002890.3(RASA1):c.87C>T (p.Ala29=)
|
|
|
NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)
|
|
|
NM_002890.3(RASA1):c.899+12T>C
|
|
|
NM_002890.3(RASA1):c.899+8A>G
|
rs781285667
|
|
NM_002890.3(RASA1):c.899_899+3del
|
|
|
NM_002890.3(RASA1):c.900-13T>C
|
|
|
NM_002890.3(RASA1):c.900-14A>G
|
|
|
NM_002890.3(RASA1):c.900-8A>G
|
|
|
NM_002890.3(RASA1):c.902dup (p.Gly304fs)
|
|
|
NM_002890.3(RASA1):c.914A>G (p.Asp305Gly)
|
rs2112386523
|
|
NM_002890.3(RASA1):c.91C>A (p.Pro31Thr)
|
|
|
NM_002890.3(RASA1):c.91C>T (p.Pro31Ser)
|
|
|
NM_002890.3(RASA1):c.924T>C (p.Ile308=)
|
|
|
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)
|
rs1484820367
|
|
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
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NM_002890.3(RASA1):c.948A>G (p.Gly316=)
|
rs2112386598
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NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)
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NM_002890.3(RASA1):c.967T>C (p.Leu323=)
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NM_002890.3(RASA1):c.98T>C (p.Val33Ala)
|
rs2112222218
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NM_016204.4(GDF2):c.1005C>T (p.Asn335=)
|
rs2061102920
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NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys)
|
rs1555209063
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NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys)
|
rs1200646207
|
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NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu)
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NM_016204.4(GDF2):c.108C>T (p.Asn36=)
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NM_016204.4(GDF2):c.1095T>C (p.Ala365=)
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NM_016204.4(GDF2):c.10G>A (p.Gly4Arg)
|
rs2061088172
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NM_016204.4(GDF2):c.1101T>C (p.Asp367=)
|
rs1415249127
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NM_016204.4(GDF2):c.1119C>T (p.His373=)
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NM_016204.4(GDF2):c.1125C>T (p.Ile375=)
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NM_016204.4(GDF2):c.1135del (p.Leu379fs)
|
rs1259967380
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NM_016204.4(GDF2):c.1139T>C (p.Val380Ala)
|
rs567200323
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NM_016204.4(GDF2):c.1152C>T (p.Phe384=)
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NM_016204.4(GDF2):c.1162G>A (p.Val388Met)
|
rs2132236835
|
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NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
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NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs)
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NM_016204.4(GDF2):c.1190A>G (p.Lys397Arg)
|
rs536912270
|
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NM_016204.4(GDF2):c.120A>C (p.Pro40=)
|
rs781963055
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NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
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NM_016204.4(GDF2):c.1233G>A (p.Val411=)
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NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter)
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rs2132236938
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NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
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NM_016204.4(GDF2):c.1267G>A (p.Val423Met)
|
rs1358534877
|
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NM_016204.4(GDF2):c.126G>A (p.Gly42=)
|
rs1023303066
|
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NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
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NM_016204.4(GDF2):c.159C>T (p.Phe53=)
|
rs2132234200
|
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NM_016204.4(GDF2):c.18G>A (p.Leu6=)
|
rs1555208681
|
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NM_016204.4(GDF2):c.198C>T (p.Phe66=)
|
rs2061089520
|
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NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)
|
rs200330818
|
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NM_016204.4(GDF2):c.258G>A (p.Pro86=)
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NM_016204.4(GDF2):c.283A>C (p.Arg95=)
|
rs2061090101
|
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NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
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NM_016204.4(GDF2):c.291G>A (p.Thr97=)
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NM_016204.4(GDF2):c.294C>T (p.Ser98=)
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NM_016204.4(GDF2):c.303G>C (p.Ser101=)
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NM_016204.4(GDF2):c.309G>A (p.Thr103=)
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NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
|
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|
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
|
rs781829279
|
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NM_016204.4(GDF2):c.346+11C>T
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NM_016204.4(GDF2):c.346+12G>T
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NM_016204.4(GDF2):c.346+17C>A
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NM_016204.4(GDF2):c.346+18A>G
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NM_016204.4(GDF2):c.347-17G>A
|
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NM_016204.4(GDF2):c.347-18C>T
|
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NM_016204.4(GDF2):c.347-5T>G
|
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NM_016204.4(GDF2):c.34C>G (p.Leu12Val)
|
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NM_016204.4(GDF2):c.36G>A (p.Leu12=)
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NM_016204.4(GDF2):c.381C>G (p.Pro127=)
|
|
|
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)
|
rs781911497
|
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NM_016204.4(GDF2):c.419C>T (p.Pro140Leu)
|
rs2061098704
|
|
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
|
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|
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter)
|
|
|
NM_016204.4(GDF2):c.455T>A (p.Leu152His)
|
rs2061098935
|
|
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
|
|
|
NM_016204.4(GDF2):c.486C>G (p.Pro162=)
|
|
|
NM_016204.4(GDF2):c.489T>G (p.Ser163=)
|
|
|
NM_016204.4(GDF2):c.492T>C (p.His164=)
|
|
|
NM_016204.4(GDF2):c.507C>T (p.Ser169=)
|
rs373090748
|
|
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
|
|
|
NM_016204.4(GDF2):c.513C>A (p.Val171=)
|
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|
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
|
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|
NM_016204.4(GDF2):c.573C>T (p.Phe191=)
|
|
|
NM_016204.4(GDF2):c.603C>A (p.Gly201=)
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NM_016204.4(GDF2):c.630C>T (p.Ala210=)
|
|
|
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
|
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|
NM_016204.4(GDF2):c.639C>T (p.Arg213=)
|
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|
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter)
|
|
|
NM_016204.4(GDF2):c.651C>T (p.Ser217=)
|
|
|
NM_016204.4(GDF2):c.69G>A (p.Lys23=)
|
rs549031631
|
|
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser)
|
rs1555208939
|
|
NM_016204.4(GDF2):c.738A>G (p.Pro246=)
|
rs2132236287
|
|
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala)
|
rs369219783
|
|
NM_016204.4(GDF2):c.740G>T (p.Gly247Val)
|
rs369219783
|
|
NM_016204.4(GDF2):c.750C>T (p.Asn250=)
|
rs782092613
|
|
NM_016204.4(GDF2):c.768C>T (p.Val256=)
|
|
|
NM_016204.4(GDF2):c.808C>T (p.Leu270=)
|
|
|
NM_016204.4(GDF2):c.846C>T (p.Ser282=)
|
|
|
NM_016204.4(GDF2):c.857dup (p.Leu287fs)
|
|
|
NM_016204.4(GDF2):c.859C>T (p.Leu287=)
|
|
|
NM_016204.4(GDF2):c.864C>T (p.Ser288=)
|
|
|
NM_016204.4(GDF2):c.879A>G (p.Thr293=)
|
|
|
NM_016204.4(GDF2):c.882G>A (p.Glu294=)
|
|
|
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)
|
rs368827442
|
|
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro)
|
rs368827442
|
|
NM_016204.4(GDF2):c.900C>T (p.His300=)
|
rs534175902
|
|
NM_016204.4(GDF2):c.906G>A (p.Glu302=)
|
|
|
NM_016204.4(GDF2):c.912G>A (p.Thr304=)
|
|
|
NM_016204.4(GDF2):c.921C>T (p.His307=)
|
|
|
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln)
|
|
|
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
|
|
|
NM_016204.4(GDF2):c.963C>A (p.Ala321=)
|
rs370309301
|
|
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
|
|
|
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)
|
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|