NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_002890.3(RASA1):c.*476T>G
|
rs543819845
|
0.00183
|
NM_000020.3(ACVRL1):c.*242A>G
|
rs147728309
|
0.00109
|
NM_001114753.3(ENG):c.1852+52G>C
|
rs371104611
|
0.00083
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_000020.3(ACVRL1):c.*2277A>T
|
rs529631289
|
0.00069
|
NM_000020.3(ACVRL1):c.*1493G>A
|
rs565400159
|
0.00061
|
NM_000020.3(ACVRL1):c.*1689G>A
|
rs139351455
|
0.00046
|
NM_000020.3(ACVRL1):c.*2347A>C
|
rs573540605
|
0.00046
|
NM_000020.3(ACVRL1):c.*590G>T
|
rs750985560
|
0.00046
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
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_001114753.3(ENG):c.-9G>A
|
rs368423516
|
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.219+23G>A
|
rs200726108
|
0.00037
|
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_000020.3(ACVRL1):c.-129G>A
|
rs886049607
|
0.00032
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
NM_001114753.3(ENG):c.-63C>T
|
rs886063476
|
0.00028
|
NM_000020.3(ACVRL1):c.*1662A>T
|
rs886049618
|
0.00026
|
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_004444.5(EPHB4):c.1067C>G (p.Thr356Ser)
|
rs192640017
|
0.00021
|
NM_001114753.3(ENG):c.-246T>C
|
rs886063478
|
0.00020
|
NM_001114753.3(ENG):c.-188G>A
|
rs961480381
|
0.00017
|
NM_000020.3(ACVRL1):c.-194A>C
|
rs886049606
|
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_000020.3(ACVRL1):c.*120G>A
|
rs539571133
|
0.00014
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_002890.3(RASA1):c.*748A>T
|
rs757684576
|
0.00014
|
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys)
|
rs151119180
|
0.00014
|
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn)
|
rs137873272
|
0.00014
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_001114753.3(ENG):c.-227C>G
|
rs955866378
|
0.00013
|
NM_000020.3(ACVRL1):c.*132G>A
|
rs867355962
|
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_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)
|
rs113316011
|
0.00011
|
NM_001114753.3(ENG):c.*266G>A
|
rs764451017
|
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_005359.6(SMAD4):c.*5576C>G
|
rs886053930
|
0.00010
|
NM_000020.3(ACVRL1):c.*1676T>C
|
rs747662494
|
0.00009
|
NM_000020.3(ACVRL1):c.*1777G>A
|
rs546585572
|
0.00009
|
NM_000020.3(ACVRL1):c.*1839C>T
|
rs755262319
|
0.00009
|
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)
|
rs141653630
|
0.00009
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)
|
rs138785106
|
0.00009
|
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)
|
rs371413736
|
0.00009
|
NM_001114753.3(ENG):c.*273A>C
|
rs138178682
|
0.00008
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001114753.3(ENG):c.1852+21C>G
|
rs147188969
|
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.1207G>A (p.Val403Ile)
|
rs367957332
|
0.00008
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
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_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp)
|
rs373133784
|
0.00006
|
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)
|
rs369146413
|
0.00006
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_001114753.3(ENG):c.-76C>T
|
rs943786398
|
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.*298T>C
|
rs886060846
|
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_001114753.3(ENG):c.-126G>A
|
rs940261789
|
0.00005
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
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_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)
|
rs373062714
|
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.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
NM_001114753.3(ENG):c.1853-9C>T
|
rs368472273
|
0.00004
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
NM_002890.3(RASA1):c.*16T>C
|
rs770822619
|
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.2608T>C (p.Leu870=)
|
rs372498033
|
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.89A>G (p.Tyr30Cys)
|
rs376663338
|
0.00004
|
NM_016204.4(GDF2):c.716C>T (p.Thr239Met)
|
rs782560993
|
0.00004
|
NM_000020.3(ACVRL1):c.*1107G>T
|
rs1459562251
|
0.00003
|
NM_000020.3(ACVRL1):c.*2113C>T
|
rs777884246
|
0.00003
|
NM_000020.3(ACVRL1):c.*2268G>C
|
rs929096514
|
0.00003
|
NM_000020.3(ACVRL1):c.*251A>G
|
rs886049613
|
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.518T>C (p.Met173Thr)
|
rs754813319
|
0.00003
|
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys)
|
rs138190783
|
0.00003
|
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala)
|
rs1472137141
|
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.589C>T (p.Arg197Trp)
|
rs780987528
|
0.00003
|
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
|
rs781715616
|
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_002890.3(RASA1):c.*577T>C
|
rs1488076469
|
0.00003
|
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln)
|
rs755634472
|
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.566C>T (p.Thr189Met)
|
rs986802785
|
0.00003
|
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
|
rs145354256
|
0.00003
|
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)
|
rs538766032
|
0.00003
|
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser)
|
rs1417508111
|
0.00003
|
NM_005359.6(SMAD4):c.*2630A>G
|
rs768569083
|
0.00003
|
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr)
|
rs139154868
|
0.00003
|
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
|
rs556004917
|
0.00003
|
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)
|
rs781770577
|
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_001114753.3(ENG):c.*4C>T
|
rs775604819
|
0.00002
|
NM_001114753.3(ENG):c.-23G>A
|
rs1311087483
|
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.1311+6A>G
|
rs1060501416
|
0.00002
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
|
rs765564489
|
0.00002
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001114753.3(ENG):c.1876G>A (p.Val626Met)
|
rs745843047
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001114753.3(ENG):c.361-12_361-11del
|
rs781079790
|
0.00002
|
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp)
|
rs971190119
|
0.00002
|
NM_001114753.3(ENG):c.805A>G (p.Met269Val)
|
rs1323617205
|
0.00002
|
NM_002890.3(RASA1):c.1103T>G (p.Val368Gly)
|
rs1038459573
|
0.00002
|
NM_002890.3(RASA1):c.1368C>T (p.Gly456=)
|
rs774547215
|
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.2189T>C (p.Ile730Thr)
|
rs758288921
|
0.00002
|
NM_002890.3(RASA1):c.2221T>G (p.Leu741Val)
|
rs200416306
|
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.2761T>G (p.Ser921Ala)
|
rs775945854
|
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.848G>A (p.Arg283His)
|
rs753769946
|
0.00002
|
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
|
rs374823017
|
0.00002
|
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
|
rs1272846013
|
0.00002
|
NM_016204.4(GDF2):c.619G>T (p.Val207Leu)
|
rs148262680
|
0.00002
|
NM_000020.3(ACVRL1):c.*1599A>G
|
rs1438021354
|
0.00001
|
NM_000020.3(ACVRL1):c.*2098A>C
|
rs886049619
|
0.00001
|
NM_000020.3(ACVRL1):c.*2252G>A
|
rs1293668616
|
0.00001
|
NM_000020.3(ACVRL1):c.*2440G>T
|
rs527990415
|
0.00001
|
NM_000020.3(ACVRL1):c.*814G>A
|
rs1297798490
|
0.00001
|
NM_000020.3(ACVRL1):c.*879G>T
|
rs886049615
|
0.00001
|
NM_000020.3(ACVRL1):c.*980C>T
|
rs1376992134
|
0.00001
|
NM_000020.3(ACVRL1):c.-168G>C
|
rs1465380790
|
0.00001
|
NM_000020.3(ACVRL1):c.-5-59C>T
|
rs563686436
|
0.00001
|
NM_000020.3(ACVRL1):c.-58G>A
|
rs886049608
|
0.00001
|
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.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
|
rs777206350
|
0.00001
|
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln)
|
rs1018788708
|
0.00001
|
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln)
|
rs202062929
|
0.00001
|
NM_001114753.3(ENG):c.*109C>T
|
rs553180494
|
0.00001
|
NM_001114753.3(ENG):c.*150C>A
|
rs886063475
|
0.00001
|
NM_001114753.3(ENG):c.*252C>A
|
rs886063474
|
0.00001
|
NM_001114753.3(ENG):c.*438G>A
|
rs1830275627
|
0.00001
|
NM_001114753.3(ENG):c.*534C>T
|
rs893984357
|
0.00001
|
NM_001114753.3(ENG):c.*586C>T
|
rs1045413208
|
0.00001
|
NM_001114753.3(ENG):c.-249C>A
|
rs914868382
|
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.111C>T (p.Pro37=)
|
rs755626994
|
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.1313A>G (p.Lys438Arg)
|
rs755962839
|
0.00001
|
NM_001114753.3(ENG):c.1314A>G (p.Lys438=)
|
rs750412250
|
0.00001
|
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile)
|
rs777564305
|
0.00001
|
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln)
|
rs370554511
|
0.00001
|
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg)
|
rs756263325
|
0.00001
|
NM_001114753.3(ENG):c.1428+5C>G
|
rs1564452925
|
0.00001
|
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp)
|
rs201517535
|
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.1696A>G (p.Arg566Gly)
|
rs1428529909
|
0.00001
|
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
|
rs759341808
|
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.1852C>T (p.Arg618Cys)
|
rs1346184000
|
0.00001
|
NM_001114753.3(ENG):c.1853-18C>T
|
rs908692674
|
0.00001
|
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)
|
rs768873662
|
0.00001
|
NM_001114753.3(ENG):c.219+3G>A
|
rs1419279746
|
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.442G>C (p.Glu148Gln)
|
rs770290260
|
0.00001
|
NM_001114753.3(ENG):c.534_536del (p.Leu179del)
|
rs1285249384
|
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.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
NM_001114753.3(ENG):c.68-17G>A
|
rs570198729
|
0.00001
|
NM_001114753.3(ENG):c.680A>G (p.His227Arg)
|
rs377548944
|
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.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.816+6T>C
|
rs759191907
|
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.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_002890.3(RASA1):c.*271A>C
|
rs1187222979
|
0.00001
|
NM_002890.3(RASA1):c.*448T>G
|
rs886060847
|
0.00001
|
NM_002890.3(RASA1):c.*9G>A
|
rs886060845
|
0.00001
|
NM_002890.3(RASA1):c.-179A>C
|
rs886060838
|
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.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.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.1305T>C (p.Tyr435=)
|
rs778801311
|
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.1423A>G (p.Ile475Val)
|
rs757154079
|
0.00001
|
NM_002890.3(RASA1):c.1453+6T>C
|
rs1352575365
|
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.179C>T (p.Thr60Ile)
|
rs779770765
|
0.00001
|
NM_002890.3(RASA1):c.17C>T (p.Ala6Val)
|
rs1010729751
|
0.00001
|
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
|
rs1206604314
|
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.248G>C (p.Gly83Ala)
|
rs755788420
|
0.00001
|
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
|
rs771835302
|
0.00001
|
NM_002890.3(RASA1):c.2603+3A>G
|
rs763113460
|
0.00001
|
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr)
|
rs878854571
|
0.00001
|
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser)
|
rs765747521
|
0.00001
|
NM_002890.3(RASA1):c.2897G>A (p.Arg966His)
|
rs757298110
|
0.00001
|
NM_002890.3(RASA1):c.2926-14C>T
|
rs886060843
|
0.00001
|
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu)
|
rs772714180
|
0.00001
|
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln)
|
rs886060844
|
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.3064G>A (p.Val1022Ile)
|
rs373643445
|
0.00001
|
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr)
|
rs144524710
|
0.00001
|
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
|
rs748658296
|
0.00001
|
NM_002890.3(RASA1):c.351C>T (p.Thr117=)
|
rs763970609
|
0.00001
|
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp)
|
rs1002148193
|
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.508G>A (p.Ala170Thr)
|
rs761820082
|
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.917T>C (p.Met306Thr)
|
rs757272694
|
0.00001
|
NM_002890.3(RASA1):c.992T>C (p.Ile331Thr)
|
rs756457101
|
0.00001
|
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg)
|
rs776305185
|
0.00001
|
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr)
|
rs1159930961
|
0.00001
|
NM_005359.6(SMAD4):c.*3843G>A
|
rs886053915
|
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.1255G>A (p.Glu419Lys)
|
rs782137039
|
0.00001
|
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
|
rs1410431494
|
0.00001
|
NM_016204.4(GDF2):c.286T>C (p.Tyr96His)
|
rs142466901
|
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.825del (p.Met275fs)
|
rs1555209009
|
0.00001
|
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp)
|
rs559992144
|
0.00001
|
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)
|
rs782796080
|
0.00001
|
NC_000005.9:g.(?_86564269)_(86564827_?)dup
|
|
|
NC_000005.9:g.(?_86564269)_(86649072_?)dup
|
|
|
NC_000005.9:g.(?_86627145)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86675532)_(86685364_?)dup
|
|
|
NC_000009.11:g.(?_130578190)_(130616640_?)dup
|
|
|
NC_000009.11:g.(?_130578196)_(130616761_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130587263_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130588971_?)dup
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)dup
|
|
|
NC_000010.10:g.(?_48413558)_(48416713_?)del
|
|
|
NC_000010.10:g.(?_48413568)_(48416703_?)del
|
|
|
NC_000010.10:g.(?_48413568)_(48416703_?)dup
|
|
|
NC_000012.11:g.(?_52306259)_(52310037_?)dup
|
|
|
NM_000020.3(ACVRL1):c.*131C>T
|
rs886049610
|
|
NM_000020.3(ACVRL1):c.*1351G>A
|
rs886049616
|
|
NM_000020.3(ACVRL1):c.*1560A>G
|
rs80260084
|
|
NM_000020.3(ACVRL1):c.*1630C>T
|
rs886049617
|
|
NM_000020.3(ACVRL1):c.*200A>G
|
rs886049611
|
|
NM_000020.3(ACVRL1):c.*2034G>T
|
rs1941017240
|
|
NM_000020.3(ACVRL1):c.*205G>A
|
rs886049612
|
|
NM_000020.3(ACVRL1):c.*478G>A
|
rs1940976966
|
|
NM_000020.3(ACVRL1):c.*592G>A
|
rs1940979955
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
|
rs1940812234
|
|
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.1036A>T (p.Ile346Phe)
|
|
|
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.1040_1042dup (p.Ala347_Asp348insAla)
|
|
|
NM_000020.3(ACVRL1):c.1044_1048+4dup
|
|
|
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
|
rs1940814416
|
|
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys)
|
rs2139076199
|
|
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
|
rs1940832594
|
|
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
|
|
|
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
|
|
|
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly)
|
rs1940835356
|
|
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.1187C>T (p.Thr396Ile)
|
|
|
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
|
|
|
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
|
|
|
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
|
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)
|
rs1940905575
|
|
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del)
|
rs2139064546
|
|
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)
|
rs753480401
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
|
|
|
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
|
|
|
NM_000020.3(ACVRL1):c.1377+4A>T
|
rs1940909579
|
|
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1378-297T>A
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
|
|
|
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
|
rs760773605
|
|
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.1432G>C (p.Ala478Pro)
|
rs1295923763
|
|
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
|
|
|
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
|
|
|
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg)
|
rs1565597471
|
|
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
|
rs1940959530
|
|
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.182G>A (p.Arg61Lys)
|
|
|
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
|
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
|
|
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.271G>A (p.Asp91Asn)
|
|
|
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
|
|
|
NM_000020.3(ACVRL1):c.313+7C>T
|
rs374171506
|
|
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.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
|
|
|
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
|
|
|
NM_000020.3(ACVRL1):c.526-13T>A
|
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
|
|
|
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
|
|
|
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala)
|
rs886043123
|
|
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.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.626-9G>A
|
rs1940780208
|
|
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup)
|
rs2139070394
|
|
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro)
|
rs779287554
|
|
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)
|
rs1940782114
|
|
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe)
|
rs761033311
|
|
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
|
rs755026232
|
|
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
|
|
|
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg)
|
rs2139070976
|
|
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
|
|
|
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
|
|
|
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro)
|
rs2139071033
|
|
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
|
|
|
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
|
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
|
|
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
|
|
|
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.916_917delinsAA (p.Ala306Lys)
|
rs1060503244
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)
|
rs1555153133
|
|
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.984C>A (p.His328Gln)
|
rs1565594410
|
|
NM_000118.3(ENG):c.-338G>A
|
rs534779092
|
|
NM_000118.3(ENG):c.-339C>T
|
rs554349374
|
|
NM_000118.3(ENG):c.-364G>A
|
rs1011392059
|
|
NM_000118.3(ENG):c.-395C>A
|
rs886063479
|
|
NM_001114753.3(ENG):c.*391G>A
|
rs1830277239
|
|
NM_001114753.3(ENG):c.*424G>C
|
rs1482022005
|
|
NM_001114753.3(ENG):c.*530T>A
|
rs1830273682
|
|
NM_001114753.3(ENG):c.*533G>A
|
rs1830273631
|
|
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.-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.-289A>C
|
rs538284289
|
|
NM_001114753.3(ENG):c.-2G>T
|
|
|
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.-90G>C
|
rs768083796
|
|
NM_001114753.3(ENG):c.-94C>G
|
|
|
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.1036C>T (p.Pro346Ser)
|
rs1554810062
|
|
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.1093G>T (p.Asp365Tyr)
|
rs548690138
|
|
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro)
|
rs372371435
|
|
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
|
|
|
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile)
|
rs775352287
|
|
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
|
rs1830547696
|
|
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu)
|
rs1830547424
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
|
rs771599199
|
|
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.116G>A (p.Arg39Lys)
|
rs892005175
|
|
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.1177A>G (p.Ser393Gly)
|
rs781518626
|
|
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
|
rs1830434129
|
|
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
|
rs1418330913
|
|
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
|
|
|
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.1223C>T (p.Ala408Val)
|
|
|
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
|
|
|
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
|
|
|
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)
|
rs760446518
|
|
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
|
|
|
NM_001114753.3(ENG):c.1272+2dup
|
|
|
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
|
|
|
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.1282A>C (p.Asn428His)
|
rs875989811
|
|
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.130T>C (p.Tyr44His)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.1312-3C>G
|
rs2131877153
|
|
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
|
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
|
rs1830399300
|
|
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
|
|
|
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
|
rs1830398628
|
|
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
|
|
|
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile)
|
rs1393437924
|
|
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.1414C>G (p.Gln472Glu)
|
|
|
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)
|
rs561818608
|
|
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+5C>A
|
rs1564452925
|
|
NM_001114753.3(ENG):c.1429-127A>G
|
|
|
NM_001114753.3(ENG):c.1429-13C>G
|
|
|
NM_001114753.3(ENG):c.1429-3C>T
|
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
NM_001114753.3(ENG):c.1429-9_1429-6dup
|
rs762494923
|
|
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser)
|
rs1554809289
|
|
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
|
|
|
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu)
|
rs1830385483
|
|
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn)
|
rs2131876065
|
|
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu)
|
rs2131876010
|
|
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
|
rs1178081923
|
|
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
|
|
|
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
|
rs2131875889
|
|
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
|
|
|
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
|
|
|
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
|
rs1247391985
|
|
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)
|
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
|
|
|
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
|
|
|
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
|
|
|
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
|
|
|
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly)
|
rs375965489
|
|
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
|
|
|
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
|
|
|
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
|
rs750637713
|
|
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala)
|
rs1554809101
|
|
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
|
|
|
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.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.1738T>A (p.Ser580Thr)
|
|
|
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.1780G>A (p.Gly594Ser)
|
rs1060501409
|
|
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
|
rs1830302512
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
|
|
|
NM_001114753.3(ENG):c.1852+1G>C
|
rs2131871398
|
|
NM_001114753.3(ENG):c.1852+21C>T
|
|
|
NM_001114753.3(ENG):c.1852+3G>A
|
|
|
NM_001114753.3(ENG):c.1852+51C>G
|
rs373626498
|
|
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
|
|
|
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
|
rs1267116267
|
|
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.219+5G>T
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-12T>A
|
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
|
|
|
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
|
|
|
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
|
rs376186413
|
|
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
|
rs1830718809
|
|
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
|
|
|
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
|
|
|
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
|
|
|
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg)
|
rs757343854
|
|
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.32C>T (p.Ala11Val)
|
|
|
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.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+2dup
|
|
|
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.37C>A (p.Leu13Met)
|
|
|
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile)
|
rs1554810507
|
|
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
|
|
|
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
|
|
|
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
|
|
|
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
|
|
|
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser)
|
rs2131890519
|
|
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
|
|
|
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.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>A (p.Ser167Arg)
|
rs1830619812
|
|
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.512G>T (p.Arg171Leu)
|
|
|
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.565G>T (p.Asp189Tyr)
|
rs147792018
|
|
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
|
|
|
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala)
|
rs1588582905
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
|
rs2131889336
|
|
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.605C>A (p.Ala202Asp)
|
rs750916329
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
|
rs1830596103
|
|
NM_001114753.3(ENG):c.67+5G>T
|
|
|
NM_001114753.3(ENG):c.67+6_67+14del
|
rs2131936455
|
|
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
|
|
|
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
|
|
|
NM_001114753.3(ENG):c.68-4A>G
|
rs1564462843
|
|
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
|
rs2131888946
|
|
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
|
rs546671241
|
|
NM_001114753.3(ENG):c.689+3A>T
|
|
|
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
|
rs1253367171
|
|
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.704C>A (p.Thr235Lys)
|
rs1361480439
|
|
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
|
|
|
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
|
|
|
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
|
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
|
rs143779963
|
|
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.775G>A (p.Val259Met)
|
|
|
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
|
rs895393705
|
|
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu)
|
rs1060501420
|
|
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.7C>G (p.Arg3Gly)
|
rs139334561
|
|
NM_001114753.3(ENG):c.806T>C (p.Met269Thr)
|
rs752331196
|
|
NM_001114753.3(ENG):c.817-3T>C
|
|
|
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)
|
rs727503038
|
|
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
|
rs1169613826
|
|
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu)
|
rs2131887192
|
|
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
|
rs1460443094
|
|
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
|
|
|
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
|
|
|
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
|
|
|
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
|
|
|
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
|
rs1830570208
|
|
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del)
|
rs2131887067
|
|
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.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
|
rs1830569316
|
|
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
|
rs754842280
|
|
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.923_925dup (p.Ala308_Ser309insThr)
|
rs1830567981
|
|
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
|
|
|
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.956T>G (p.Leu319Arg)
|
|
|
NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
|
|
|
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
|
rs1830566735
|
|
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
|
|
|
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys)
|
rs1280918470
|
|
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
|
|
|
NM_001114753.3(ENG):c.992-3C>G
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-3C>T
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992G>T (p.Gly331Val)
|
|
|
NM_002890.3(RASA1):c.*1000GTTAA[1]
|
rs886060850
|
|
NM_002890.3(RASA1):c.*267C>G
|
rs1762485512
|
|
NM_002890.3(RASA1):c.*424G>A
|
rs191725379
|
|
NM_002890.3(RASA1):c.*572C>A
|
rs886060848
|
|
NM_002890.3(RASA1):c.*606G>A
|
rs1762511406
|
|
NM_002890.3(RASA1):c.*840ATT[1]
|
rs201705926
|
|
NM_002890.3(RASA1):c.*852A>G
|
rs182603054
|
|
NM_002890.3(RASA1):c.*96C>G
|
rs983905296
|
|
NM_002890.3(RASA1):c.1000G>C (p.Asp334His)
|
|
|
NM_002890.3(RASA1):c.1017delinsTTAC (p.Val339_Gly340insTyr)
|
rs1758104033
|
|
NM_002890.3(RASA1):c.1018-3T>C
|
|
|
NM_002890.3(RASA1):c.1019G>T (p.Gly340Val)
|
|
|
NM_002890.3(RASA1):c.1021C>T (p.Arg341Trp)
|
|
|
NM_002890.3(RASA1):c.1049+5G>T
|
rs1580307103
|
|
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
|
rs2112414697
|
|
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.111G>C (p.Lys37Asn)
|
|
|
NM_002890.3(RASA1):c.1130_1144dup (p.Asn381_Thr382insArgProSerAspAsn)
|
|
|
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp)
|
rs1060503437
|
|
NM_002890.3(RASA1):c.1151G>C (p.Gly384Ala)
|
|
|
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
|
|
|
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
|
|
|
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
|
|
|
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.1241G>A (p.Arg414Gln)
|
|
|
NM_002890.3(RASA1):c.1253+5A>G
|
|
|
NM_002890.3(RASA1):c.1253+6T>C
|
rs2112421845
|
|
NM_002890.3(RASA1):c.1255A>G (p.Ile419Val)
|
|
|
NM_002890.3(RASA1):c.1261G>A (p.Asp421Asn)
|
|
|
NM_002890.3(RASA1):c.1267A>G (p.Ile423Val)
|
|
|
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
|
rs1759407260
|
|
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
|
rs753506212
|
|
NM_002890.3(RASA1):c.1306T>A (p.Tyr436Asn)
|
|
|
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.1332+3C>G
|
|
|
NM_002890.3(RASA1):c.1333-18A>G
|
rs2112456229
|
|
NM_002890.3(RASA1):c.1336C>G (p.Gln446Glu)
|
rs2112456363
|
|
NM_002890.3(RASA1):c.1345G>C (p.Val449Leu)
|
|
|
NM_002890.3(RASA1):c.1349T>C (p.Leu450Pro)
|
|
|
NM_002890.3(RASA1):c.1355A>C (p.Asp452Ala)
|
|
|
NM_002890.3(RASA1):c.1363G>A (p.Asp455Asn)
|
|
|
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.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.1453G>A (p.Gly485Ser)
|
|
|
NM_002890.3(RASA1):c.1454-12_1454-7del
|
rs60835976
|
|
NM_002890.3(RASA1):c.1463A>G (p.Lys488Arg)
|
|
|
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.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.157G>C (p.Val53Leu)
|
rs2112222387
|
|
NM_002890.3(RASA1):c.1610+3A>G
|
|
|
NM_002890.3(RASA1):c.1611-15G>A
|
rs1760796647
|
|
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.1661T>A (p.Ile554Asn)
|
|
|
NM_002890.3(RASA1):c.1673C>A (p.Ala558Glu)
|
|
|
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+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.1719G>C (p.Gln573His)
|
rs1760995498
|
|
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.1777-3T>A
|
rs1580380301
|
|
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.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.1813A>C (p.Lys605Gln)
|
|
|
NM_002890.3(RASA1):c.1828C>T (p.His610Tyr)
|
|
|
NM_002890.3(RASA1):c.1835C>T (p.Thr612Ile)
|
|
|
NM_002890.3(RASA1):c.1852A>G (p.Ile618Val)
|
|
|
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.1888G>C (p.Ala630Pro)
|
rs1580380538
|
|
NM_002890.3(RASA1):c.188G>T (p.Gly63Val)
|
rs754945616
|
|
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.1934+6T>C
|
|
|
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.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+4A>C
|
rs886060840
|
|
NM_002890.3(RASA1):c.2011+6T>A
|
rs1554049237
|
|
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.2036G>A (p.Arg679Gln)
|
|
|
NM_002890.3(RASA1):c.2049G>C (p.Gly683=)
|
rs886060841
|
|
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.2102T>C (p.Ile701Thr)
|
|
|
NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)
|
|
|
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu)
|
rs2112222520
|
|
NM_002890.3(RASA1):c.2126G>A (p.Arg709Gln)
|
|
|
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
|
rs1027956355
|
|
NM_002890.3(RASA1):c.2145A>C (p.Glu715Asp)
|
|
|
NM_002890.3(RASA1):c.2155C>A (p.Pro719Thr)
|
|
|
NM_002890.3(RASA1):c.2160A>C (p.Glu720Asp)
|
|
|
NM_002890.3(RASA1):c.2161G>A (p.Glu721Lys)
|
|
|
NM_002890.3(RASA1):c.2185-5T>G
|
rs2112491988
|
|
NM_002890.3(RASA1):c.2191C>A (p.Leu731Met)
|
|
|
NM_002890.3(RASA1):c.2200G>C (p.Glu734Gln)
|
|
|
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser)
|
rs980967533
|
|
NM_002890.3(RASA1):c.2210T>C (p.Val737Ala)
|
|
|
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.2263A>G (p.Ile755Val)
|
rs1180041614
|
|
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.22_23inv (p.Ser8Leu)
|
|
|
NM_002890.3(RASA1):c.2300C>G (p.Ser767Trp)
|
|
|
NM_002890.3(RASA1):c.2303T>C (p.Leu768Ser)
|
|
|
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
|
|
|
NM_002890.3(RASA1):c.2311T>C (p.Cys771Arg)
|
|
|
NM_002890.3(RASA1):c.2353A>C (p.Thr785Pro)
|
rs2112495513
|
|
NM_002890.3(RASA1):c.2357C>T (p.Thr786Ile)
|
|
|
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.239C>T (p.Ala80Val)
|
rs764720303
|
|
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
|
|
|
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.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.2461A>G (p.Ile821Val)
|
rs1554049698
|
|
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)
|
rs2112495755
|
|
NM_002890.3(RASA1):c.2462T>C (p.Ile821Thr)
|
|
|
NM_002890.3(RASA1):c.2487+11A>C
|
rs886060842
|
|
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
|
rs755788420
|
|
NM_002890.3(RASA1):c.2491A>C (p.Ser831Arg)
|
|
|
NM_002890.3(RASA1):c.2504T>C (p.Leu835Ser)
|
rs1445029428
|
|
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.2527A>G (p.Thr843Ala)
|
|
|
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
|
rs754858818
|
|
NM_002890.3(RASA1):c.2546T>C (p.Leu849Ser)
|
|
|
NM_002890.3(RASA1):c.2552T>C (p.Ile851Thr)
|
|
|
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
|
rs1761583366
|
|
NM_002890.3(RASA1):c.2594T>C (p.Ile865Thr)
|
|
|
NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)
|
|
|
NM_002890.3(RASA1):c.2603+4A>T
|
|
|
NM_002890.3(RASA1):c.2616T>C (p.Tyr872=)
|
|
|
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.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.2680A>G (p.Arg894Gly)
|
rs2112500864
|
|
NM_002890.3(RASA1):c.2681G>A (p.Arg894Lys)
|
|
|
NM_002890.3(RASA1):c.2690+4A>G
|
rs2112500896
|
|
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln)
|
rs2112509032
|
|
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
|
|
|
NM_002890.3(RASA1):c.2723C>G (p.Ala908Gly)
|
rs1761886517
|
|
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
|
|
|
NM_002890.3(RASA1):c.2733T>A (p.Asn911Lys)
|
rs766721039
|
|
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.2759-12A>G
|
|
|
NM_002890.3(RASA1):c.2759-3_2759-2del
|
|
|
NM_002890.3(RASA1):c.2759-5T>G
|
|
|
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser)
|
rs1554050426
|
|
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
|
rs1205377315
|
|
NM_002890.3(RASA1):c.2828T>C (p.Leu943Pro)
|
|
|
NM_002890.3(RASA1):c.2858T>C (p.Met953Thr)
|
|
|
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1])
|
rs745572583
|
|
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.288_308del (p.93AGVAGAA[1])
|
|
|
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.2925G>A (p.Gly975=)
|
|
|
NM_002890.3(RASA1):c.2926-2_2927dup
|
|
|
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
|
|
|
NM_002890.3(RASA1):c.2943G>T (p.Pro981=)
|
|
|
NM_002890.3(RASA1):c.2957A>T (p.His986Leu)
|
|
|
NM_002890.3(RASA1):c.2966C>T (p.Thr989Met)
|
|
|
NM_002890.3(RASA1):c.2977C>T (p.Arg993Cys)
|
|
|
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
|
|
|
NM_002890.3(RASA1):c.2985A>T (p.Leu995Phe)
|
|
|
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.3007G>A (p.Val1003Met)
|
|
|
NM_002890.3(RASA1):c.3007G>C (p.Val1003Leu)
|
rs758894954
|
|
NM_002890.3(RASA1):c.3011C>T (p.Ala1004Val)
|
rs2112525174
|
|
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.3037A>G (p.Ser1013Gly)
|
rs993477801
|
|
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
|
rs768241743
|
|
NM_002890.3(RASA1):c.3046C>T (p.Arg1016Cys)
|
|
|
NM_002890.3(RASA1):c.3060+1G>T
|
rs1580418269
|
|
NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)
|
|
|
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
|
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NM_002890.3(RASA1):c.3090_3140dup (p.Arg1047_Ter1048insGluLeuLeuGlnGlnLysGlnAsnGlnTyrThrLysThrAsnAspValArg)
|
rs2112530518
|
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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.3141_*50dup (p.Arg1047_Ter1048=)
|
|
|
NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)
|
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|
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
|
|
|
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)
|
rs2112222851
|
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NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)
|
|
|
NM_002890.3(RASA1):c.339C>A (p.Asp113Glu)
|
|
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NM_002890.3(RASA1):c.341T>C (p.Met114Thr)
|
|
|
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly)
|
rs576329276
|
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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.353A>G (p.Lys118Arg)
|
|
|
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
|
rs1266753350
|
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NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
|
|
|
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
|
|
|
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
|
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NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
|
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|
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
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|
|
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val)
|
rs1554038863
|
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NM_002890.3(RASA1):c.402T>C (p.Phe134=)
|
rs1329000012
|
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NM_002890.3(RASA1):c.403C>A (p.Pro135Thr)
|
|
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NM_002890.3(RASA1):c.404C>T (p.Pro135Leu)
|
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NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
|
rs769463654
|
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NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)
|
rs769463654
|
|
NM_002890.3(RASA1):c.415C>G (p.Pro139Ala)
|
|
|
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
|
rs751440049
|
|
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
|
rs1753694671
|
|
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
|
|
|
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
|
|
|
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
|
|
|
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
|
rs899638423
|
|
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala)
|
rs1753696601
|
|
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
|
|
|
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
|
|
|
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
|
|
|
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu)
|
rs776808856
|
|
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.539+20C>T
|
|
|
NM_002890.3(RASA1):c.539+298G>A
|
|
|
NM_002890.3(RASA1):c.539+3A>G
|
rs1561245221
|
|
NM_002890.3(RASA1):c.539+6T>G
|
|
|
NM_002890.3(RASA1):c.549C>A (p.His183Gln)
|
|
|
NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)
|
|
|
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.607A>C (p.Ser203Arg)
|
|
|
NM_002890.3(RASA1):c.608G>A (p.Ser203Asn)
|
|
|
NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)
|
|
|
NM_002890.3(RASA1):c.631C>G (p.Arg211Gly)
|
rs757065933
|
|
NM_002890.3(RASA1):c.637C>T (p.Pro213Ser)
|
rs2112366190
|
|
NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)
|
|
|
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
|
rs1554044823
|
|
NM_002890.3(RASA1):c.672G>A (p.Met224Ile)
|
|
|
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.692+6T>G
|
|
|
NM_002890.3(RASA1):c.693-5A>G
|
rs1757676959
|
|
NM_002890.3(RASA1):c.694A>G (p.Ile232Val)
|
|
|
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
|
rs1757677358
|
|
NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)
|
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
|
rs1753667262
|
|
NM_002890.3(RASA1):c.805C>G (p.Leu269Val)
|
|
|
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
|
|
|
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
|
|
|
NM_002890.3(RASA1):c.839A>G (p.Asp280Gly)
|
|
|
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.88T>A (p.Tyr30Asn)
|
|
|
NM_002890.3(RASA1):c.899+8A>G
|
rs781285667
|
|
NM_002890.3(RASA1):c.900-14A>G
|
|
|
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.92C>G (p.Pro31Arg)
|
rs1484820367
|
|
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
|
|
|
NM_002890.3(RASA1):c.98T>C (p.Val33Ala)
|
rs2112222218
|
|
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe)
|
|
|
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys)
|
rs2116447376
|
|
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly)
|
rs1584662591
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys)
|
rs1584667224
|
|
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp)
|
rs745584371
|
|
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp)
|
rs927472085
|
|
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro)
|
rs61735971
|
|
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg)
|
rs753075600
|
|
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg)
|
rs1330628156
|
|
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr)
|
rs1584653653
|
|
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu)
|
rs1584653650
|
|
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
|
|
|
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)
|
rs1584653005
|
|
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu)
|
rs1584652920
|
|
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro)
|
rs1584652900
|
|
NM_004444.5(EPHB4):c.282G>T (p.Met94Ile)
|
|
|
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)
|
rs1562974383
|
|
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro)
|
rs1584666053
|
|
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)
|
rs201816920
|
|
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
|
|
|
NM_004444.5(EPHB4):c.964+3A>T
|
|
|
NM_005359.6(SMAD4):c.*1512dup
|
rs755827115
|
|
NM_005359.6(SMAD4):c.*1564_*1567del
|
rs886053903
|
|
NM_005359.6(SMAD4):c.*2707_*2711del
|
rs769541605
|
|
NM_005359.6(SMAD4):c.*4991dup
|
rs886053919
|
|
NM_005359.6(SMAD4):c.*5004_*5005dup
|
rs113155703
|
|
NM_005359.6(SMAD4):c.*5535_*5540del
|
rs147193925
|
|
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA
|
rs886053923
|
|
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG
|
rs886053924
|
|
NM_005359.6(SMAD4):c.*5535_*5549delinsG
|
rs886053925
|
|
NM_005359.6(SMAD4):c.*5537GC[4]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5537GC[7]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5546CA[13]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[14]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[15]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[17]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[20]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[23]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5757dup
|
rs886053931
|
|
NM_005359.6(SMAD4):c.*6158GATT[1]
|
rs886053936
|
|
NM_005359.6(SMAD4):c.-506ACA[1]
|
rs886053885
|
|
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys)
|
rs1555209063
|
|
NM_016204.4(GDF2):c.1042C>T (p.Pro348Ser)
|
|
|
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys)
|
rs1200646207
|
|
NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu)
|
|
|
NM_016204.4(GDF2):c.10G>A (p.Gly4Arg)
|
rs2061088172
|
|
NM_016204.4(GDF2):c.1162G>A (p.Val388Met)
|
rs2132236835
|
|
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
|
|
|
NM_016204.4(GDF2):c.121C>G (p.Leu41Val)
|
|
|
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter)
|
rs2132236938
|
|
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)
|
|
|
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)
|
|
|
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg)
|
|
|
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu)
|
|
|
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
|
rs781829279
|
|
NM_016204.4(GDF2):c.347-5T>G
|
|
|
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
|
rs2061098325
|
|
NM_016204.4(GDF2):c.34C>G (p.Leu12Val)
|
|
|
NM_016204.4(GDF2):c.419C>T (p.Pro140Leu)
|
rs2061098704
|
|
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)
|
|
|
NM_016204.4(GDF2):c.455T>A (p.Leu152His)
|
rs2061098935
|
|
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe)
|
|
|
NM_016204.4(GDF2):c.508G>A (p.Val170Met)
|
|
|
NM_016204.4(GDF2):c.521A>T (p.Asp174Val)
|
|
|
NM_016204.4(GDF2):c.631G>A (p.Val211Met)
|
|
|
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser)
|
rs1555208939
|
|
NM_016204.4(GDF2):c.740G>T (p.Gly247Val)
|
rs369219783
|
|
NM_016204.4(GDF2):c.833A>C (p.His278Pro)
|
|
|
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.950G>A (p.Arg317Gln)
|
|
|
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr)
|
|
|
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr)
|
|
|
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)
|
|
|