NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)
|
rs113605875
|
0.00001
|
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val)
|
rs121918713
|
0.00001
|
NC_000015.9:g.48793164_49095744del
|
|
|
NG_008805.2:g.(135403_137120)_(206249_208942)del
|
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)
|
rs137854462
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr)
|
rs137854481
|
|
NM_000138.5(FBN1):c.3192del (p.Glu1065fs)
|
rs1131692050
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)
|
rs137854465
|
|
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)
|
rs137854484
|
|
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr)
|
rs137854470
|
|
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr)
|
rs137854482
|
|
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)
|
rs137854473
|
|
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr)
|
rs137854483
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg)
|
rs137854474
|
|
NM_000138.5(FBN1):c.3965-2A>T
|
rs387906547
|
|
NM_000138.5(FBN1):c.4087+1G>A
|
rs387906548
|
|
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs)
|
rs398122934
|
|
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg)
|
rs137854459
|
|
NM_000138.5(FBN1):c.5788+1G>A
|
rs1555395819
|
|
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)
|
rs267606797
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7455_7821del
|
|
|
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)
|
rs267606796
|
|
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)
|
rs137852826
|
|
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)
|
rs137852827
|
|
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)
|
rs137852828
|
|
NM_001999.4(FBN2):c.3725-15A>G
|
rs587776519
|
|
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)
|
rs137852825
|
|
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)
|
rs28931602
|
|
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)
|
rs267606802
|
|
NM_001999.4(FBN2):c.3974-26T>G
|
rs2126895611
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.101G>A (p.Gly34Asp)
|
rs387907305
|
|
NM_003036.4(SKI):c.101G>T (p.Gly34Val)
|
rs387907305
|
|
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)
|
rs397514590
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del)
|
rs398122914
|
|
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)
|
rs398122889
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His)
|
rs387907278
|
|
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)
|
rs398122884
|
|
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)
|
rs398122883
|
|
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter)
|
rs398122885
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr)
|
rs398122984
|
|
NM_003239.5(TGFB3):c.704del (p.Asn235fs)
|
rs875989817
|
|
NM_003239.5(TGFB3):c.754+2T>C
|
rs875989816
|
|
NM_003239.5(TGFB3):c.787G>C (p.Asp263His)
|
rs796051886
|
|
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)
|
rs796051885
|
|
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)
|
rs587777617
|
|
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)
|
rs104893812
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)
|
rs104893814
|
|
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)
|
rs104893817
|
|
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)
|
rs104893818
|
|
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)
|
rs104893807
|
|
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
NM_003242.6(TGFBR2):c.1397-2A>G
|
rs587776770
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
|
rs863223852
|
|
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)
|
rs121918715
|
|
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)
|
rs104893810
|
|
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
|
rs104893815
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)
|
rs28934568
|
|
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly)
|
rs121918711
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro)
|
rs113605875
|
|
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)
|
rs121918712
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg)
|
rs121918710
|
|
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)
|
rs2144290354
|
|
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)
|
rs746828424
|
|
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)
|
rs2144276501
|
|
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)
|
rs2144276285
|
|
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)
|
rs2144373131
|
|
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)
|
rs2144300734
|
|
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.313del (p.Ala105fs)
|
rs587776882
|
|
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
|
rs387906854
|
|
NM_005902.4(SMAD3):c.653del (p.Asn218fs)
|
rs587776881
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)
|
rs587776880
|
|
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)
|
rs387906851
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)
|
rs387906852
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|