NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00003
|
NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter)
|
rs376830567
|
0.00003
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)
|
rs1064797017
|
0.00001
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.1471-2A>G
|
rs1401035675
|
0.00001
|
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)
|
rs770974455
|
0.00001
|
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)
|
rs112901682
|
0.00001
|
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)
|
rs772862676
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
NC_000009.12:g.(?_99137839)_(99138109_?)del
|
|
|
NC_000009.12:g.(?_99142526)_(99150189_?)del
|
|
|
NC_000015.10:g.(?_67190393)_(67190556_?)del
|
|
|
NC_000015.9:g.(?_67457213)_(67462962_?)dup
|
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000090.3(COL3A1):c.2933del
|
rs1688561668
|
|
NM_000090.3(COL3A1):c.798_799delAG
|
|
|
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)
|
rs794728040
|
|
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)
|
|
|
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp)
|
rs1553507867
|
|
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser)
|
|
|
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)
|
rs587779534
|
|
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)
|
rs794728044
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser)
|
rs794728045
|
|
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)
|
rs1688258933
|
|
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys)
|
rs886038952
|
|
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer)
|
rs2153502437
|
|
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val)
|
rs1553507991
|
|
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)
|
rs587779476
|
|
NM_000090.4(COL3A1):c.1608+1G>A
|
|
|
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp)
|
rs2153502685
|
|
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp)
|
rs886038853
|
|
NM_000090.4(COL3A1):c.1761+5G>A
|
rs397509372
|
|
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
|
|
|
NM_000090.4(COL3A1):c.1862_1869+5del
|
|
|
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu)
|
rs1553508463
|
|
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)
|
rs587779433
|
|
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu)
|
rs587779458
|
|
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp)
|
|
|
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg)
|
|
|
NM_000090.4(COL3A1):c.2229+1G>A
|
rs1576468385
|
|
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
|
|
|
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys)
|
|
|
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)
|
rs587779461
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp)
|
|
|
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)
|
rs587779471
|
|
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)
|
rs587779450
|
|
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala)
|
|
|
NM_000090.4(COL3A1):c.3093+1G>T
|
rs869312034
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)
|
rs587779540
|
|
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)
|
rs587779563
|
|
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp)
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)
|
rs587779609
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)
|
rs587779482
|
|
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)
|
rs2153501643
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000090.4(COL3A1):c.528+5G>T
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
NM_000090.4(COL3A1):c.582+2_582+16del
|
|
|
NM_000090.4(COL3A1):c.636+1G>T
|
|
|
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)
|
rs587779596
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
|
rs121912927
|
|
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)
|
rs587779604
|
|
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)
|
rs587779478
|
|
NM_000090.4(COL3A1):c.898-2A>G
|
rs1553507574
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
NM_000090.4:c.-46_4368del
|
|
|
NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala)
|
rs1554799402
|
|
NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp)
|
|
|
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs)
|
rs1554726251
|
|
NM_000093.5(COL5A1):c.54del (p.Leu19fs)
|
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000138.4:c.1783_1784insALU
|
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.1074C>G (p.Cys358Trp)
|
|
|
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
|
|
|
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)
|
rs886039066
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1147_1147+9del
|
|
|
NM_000138.5(FBN1):c.1148-1G>C
|
|
|
NM_000138.5(FBN1):c.1169_1170del (p.Ser390fs)
|
rs2141331190
|
|
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp)
|
rs1555400378
|
|
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1469-3_1469-1del
|
rs2043779232
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.164+1G>C
|
|
|
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
|
|
|
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg)
|
rs2043746138
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)
|
rs1555399943
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1909T>A (p.Cys637Ser)
|
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.213del (p.Gly70_Trp71insTer)
|
rs2140737436
|
|
NM_000138.5(FBN1):c.2168-1G>T
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2200T>A (p.Cys734Ser)
|
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2294-1G>A
|
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2327G>T (p.Cys776Phe)
|
|
|
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)
|
rs397515766
|
|
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)
|
rs1555399271
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe)
|
rs886038984
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp)
|
rs1555399205
|
|
NM_000138.5(FBN1):c.247+1G>T
|
rs25404
|
|
NM_000138.5(FBN1):c.2488T>A (p.Cys830Ser)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
|
|
|
NM_000138.5(FBN1):c.2539+1G>T
|
rs794728192
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)
|
rs2043594915
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2666dup (p.Cys890fs)
|
rs2043594458
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2729-2A>G
|
rs113813525
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2945G>T (p.Cys982Phe)
|
rs1057524458
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2954G>A (p.Gly985Glu)
|
rs137854477
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp)
|
rs1555398680
|
|
NM_000138.5(FBN1):c.3274del (p.Asp1092fs)
|
rs397515788
|
|
NM_000138.5(FBN1):c.3290G>T (p.Cys1097Phe)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)
|
rs794728203
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3449dup (p.Ser1151fs)
|
|
|
NM_000138.5(FBN1):c.347-3_442+4del
|
rs2140717963
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.3584G>A (p.Cys1195Tyr)
|
rs886038802
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)
|
rs137854458
|
|
NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)
|
|
|
NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp)
|
rs886039492
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3958T>A (p.Cys1320Ser)
|
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)
|
rs1555405039
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4204T>C (p.Cys1402Arg)
|
|
|
NM_000138.5(FBN1):c.4205G>C (p.Cys1402Ser)
|
|
|
NM_000138.5(FBN1):c.4206T>G (p.Cys1402Trp)
|
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
NM_000138.5(FBN1):c.4330T>C (p.Cys1444Arg)
|
|
|
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)
|
rs886038940
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4366T>G (p.Cys1456Gly)
|
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.4459+1del
|
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)
|
rs1555404819
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
|
|
|
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)
|
rs1555397203
|
|
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)
|
rs886039120
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser)
|
rs112559031
|
|
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4708_4722delinsCA (p.Trp1570fs)
|
rs2141272280
|
|
NM_000138.5(FBN1):c.4780G>T (p.Gly1594Cys)
|
rs2043316188
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4849dup (p.Cys1617fs)
|
|
|
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
|
|
|
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr)
|
rs1555396993
|
|
NM_000138.5(FBN1):c.4927dup (p.Thr1643fs)
|
rs1566903914
|
|
NM_000138.5(FBN1):c.4937G>C (p.Cys1646Ser)
|
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser)
|
rs363852
|
|
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5155T>C (p.Cys1719Arg)
|
rs886038838
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5371T>A (p.Cys1791Ser)
|
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5441del (p.Asn1814fs)
|
rs2043210418
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
NM_000138.5(FBN1):c.5465_5484del (p.Ala1822fs)
|
rs2141256009
|
|
NM_000138.5(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer)
|
rs1566900492
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5542_5545+11del
|
|
|
NM_000138.5(FBN1):c.557G>A (p.Cys186Tyr)
|
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys)
|
rs1057521101
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser)
|
rs1555395840
|
|
NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)
|
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5840G>T (p.Cys1947Phe)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5912G>T (p.Cys1971Phe)
|
|
|
NM_000138.5(FBN1):c.5917+5_5917+29del
|
|
|
NM_000138.5(FBN1):c.5917+6T>C
|
rs1555395742
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.5964del (p.Cys1989fs)
|
rs1566898120
|
|
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)
|
rs1555395652
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6037+1G>A
|
rs1064796636
|
|
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys)
|
rs2141245531
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6049T>G (p.Cys2017Gly)
|
|
|
NM_000138.5(FBN1):c.6119G>T (p.Cys2040Phe)
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6247T>C (p.Cys2083Arg)
|
|
|
NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6313+3A>T
|
|
|
NM_000138.5(FBN1):c.6314-1G>A
|
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6350_6360del (p.Ile2117fs)
|
rs2141240851
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6466G>T (p.Gly2156Cys)
|
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.6662G>T (p.Cys2221Phe)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg)
|
rs112836174
|
|
NM_000138.5(FBN1):c.6773G>A (p.Cys2258Tyr)
|
rs886039047
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6821G>C (p.Cys2274Ser)
|
|
|
NM_000138.5(FBN1):c.6822C>G (p.Cys2274Trp)
|
|
|
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6904T>A (p.Cys2302Ser)
|
rs886039092
|
|
NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser)
|
rs886038894
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter)
|
rs1566892872
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg)
|
rs886038930
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr)
|
rs1555394400
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
|
rs1555394390
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp)
|
rs750331217
|
|
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)
|
rs1566891701
|
|
NM_000138.5(FBN1):c.7649G>C (p.Cys2550Ser)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg)
|
rs2042934926
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7742G>T (p.Cys2581Phe)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp)
|
rs397515857
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7820-1G>A
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)
|
rs794728337
|
|
NM_000138.5(FBN1):c.7865G>A (p.Cys2622Tyr)
|
rs1555393880
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7886A>G (p.Tyr2629Cys)
|
|
|
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp)
|
rs1555393837
|
|
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)
|
rs886038869
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.812G>A (p.Cys271Tyr)
|
|
|
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)
|
rs765692335
|
|
NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)
|
rs1555393516
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.8607del (p.Leu2869fs)
|
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000138.5(FBN1):c.950del (p.Pro317fs)
|
rs1566919637
|
|
NM_000138.5(FBN1):c.991del (p.Val331fs)
|
|
|
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG
|
rs2122603096
|
|
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)
|
rs1553517181
|
|
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)
|
rs1569551930
|
|
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg)
|
rs1557179684
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)
|
rs112901682
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)
|
rs869025352
|
|
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp)
|
rs1845899655
|
|
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
|
rs112602953
|
|
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
|
rs397516683
|
|
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)
|
rs746972765
|
|
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
|
rs727502878
|
|
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys)
|
rs886038852
|
|
NM_001613.4(ACTA2):c.767G>A (p.Arg256His)
|
rs766734961
|
|
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)
|
rs121434527
|
|
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp)
|
rs1554123064
|
|
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)
|
rs1554122896
|
|
NM_001999.4(FBN2):c.3724+1G>A
|
|
|
NM_001999.4(FBN2):c.3724+2T>G
|
|
|
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)
|
|
|
NM_001999.4(FBN2):c.4346-2A>C
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)
|
rs1554075372
|
|
NM_001999.4(FBN2):c.6638-2A>C
|
rs886039200
|
|
NM_002317.7(LOX):c.125G>A (p.Trp42Ter)
|
rs886040966
|
|
NM_002317.7(LOX):c.893T>G (p.Met298Arg)
|
rs876657852
|
|
NM_002474.3(MYH11):c.1470dup (p.Met491fs)
|
rs2151274939
|
|
NM_002474.3(MYH11):c.1A>G (p.Met1Val)
|
rs1555459260
|
|
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
|
rs267606902
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.4578+1G>A
|
rs397514037
|
|
NM_002474.3(MYH11):c.4578+1G>C
|
rs397514037
|
|
NM_003238.6(TGFB2):c.1101T>G (p.Tyr367Ter)
|
|
|
NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe)
|
rs1553303745
|
|
NM_003238.6(TGFB2):c.346+1G>T
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
|
|
|
NM_003238.6(TGFB2):c.817A>T (p.Lys273Ter)
|
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)
|
rs1057521150
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)
|
rs1555360212
|
|
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)
|
rs2035418540
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)
|
|
|
NM_003239.5(TGFB3):c.310G>T (p.Glu104Ter)
|
|
|
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)
|
rs1057523647
|
|
NM_003239.5(TGFB3):c.696dup (p.Gln233fs)
|
|
|
NM_003239.5(TGFB3):c.884dup (p.Gln296fs)
|
|
|
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)
|
rs1555360368
|
|
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)
|
rs796051885
|
|
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)
|
rs1555360229
|
|
NM_003242.6(TGFBR2):c.1007A>C (p.Tyr336Ser)
|
|
|
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)
|
rs869025537
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1130A>C (p.His377Pro)
|
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys)
|
rs193922661
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_003242.6(TGFBR2):c.1168G>T (p.Asp390Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr)
|
rs1553630289
|
|
NM_003242.6(TGFBR2):c.1184T>C (p.Leu395Pro)
|
|
|
NM_003242.6(TGFBR2):c.1187G>A (p.Cys396Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)
|
rs863223845
|
|
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro)
|
rs2125437095
|
|
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
|
|
|
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)
|
rs863223847
|
|
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)
|
rs1553630426
|
|
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
|
|
|
NM_003242.6(TGFBR2):c.1298G>C (p.Arg433Thr)
|
rs1699392675
|
|
NM_003242.6(TGFBR2):c.1314T>G (p.Asn438Lys)
|
rs772490613
|
|
NM_003242.6(TGFBR2):c.1324T>C (p.Phe442Leu)
|
rs2125439063
|
|
NM_003242.6(TGFBR2):c.1343A>G (p.Tyr448Cys)
|
|
|
NM_003242.6(TGFBR2):c.1378C>G (p.Arg460Gly)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)
|
rs1559472349
|
|
NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg)
|
rs1575165264
|
|
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter)
|
rs1575165272
|
|
NM_003242.6(TGFBR2):c.1512G>C (p.Trp504Cys)
|
|
|
NM_003242.6(TGFBR2):c.1524+2T>C
|
|
|
NM_003242.6(TGFBR2):c.1525-1G>A
|
rs1699706945
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003242.6(TGFBR2):c.1529del (p.Ile510fs)
|
rs878854611
|
|
NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter)
|
rs1060501984
|
|
NM_003242.6(TGFBR2):c.1555G>A (p.Glu519Lys)
|
rs2125455181
|
|
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)
|
rs1553631968
|
|
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)
|
rs863223854
|
|
NM_003242.6(TGFBR2):c.1576G>A (p.Glu526Lys)
|
rs121918714
|
|
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr)
|
rs2125455285
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile)
|
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.1597T>C (p.Cys533Arg)
|
|
|
NM_003242.6(TGFBR2):c.1598G>A (p.Cys533Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
|
|
|
NM_003242.6(TGFBR2):c.1603del (p.Ala535fs)
|
rs1699709401
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His)
|
rs1057524810
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His)
|
rs1553630174
|
|
NM_003242.6(TGFBR2):c.914T>C (p.Leu305Pro)
|
|
|
NM_003480.4(MFAP5):c.59-1G>C
|
|
|
NM_004612.4(TGFBR1):c.1040dup (p.Cys347fs)
|
|
|
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)
|
|
|
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg)
|
rs1827743139
|
|
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)
|
rs2118827924
|
|
NM_004612.4(TGFBR1):c.1228_1255+1dup
|
|
|
NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His)
|
rs1554702463
|
|
NM_004612.4(TGFBR1):c.1311_1313del (p.Val438del)
|
rs2118840018
|
|
NM_004612.4(TGFBR1):c.1386dup (p.Ala463fs)
|
rs2118841181
|
|
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)
|
rs886039176
|
|
NM_004612.4(TGFBR1):c.343+1G>A
|
|
|
NM_004612.4(TGFBR1):c.344-2A>G
|
|
|
NM_004612.4(TGFBR1):c.574+1G>A
|
|
|
NM_004612.4(TGFBR1):c.575-1G>C
|
rs2118707001
|
|
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly)
|
rs863223813
|
|
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys)
|
rs1057524497
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile)
|
|
|
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del)
|
rs1827496704
|
|
NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr)
|
rs863223832
|
|
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)
|
rs2118780524
|
|
NM_004612.4(TGFBR1):c.973+1G>A
|
rs863223818
|
|
NM_004612.4(TGFBR1):c.974-1G>A
|
rs2118803591
|
|
NM_004612.4(TGFBR1):c.974-2A>G
|
rs1554701881
|
|
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu)
|
|
|
NM_005902.4(SMAD3):c.1009+1G>A
|
rs1963180892
|
|
NM_005902.4(SMAD3):c.1010-1G>C
|
rs2140323368
|
|
NM_005902.4(SMAD3):c.106A>T (p.Lys36Ter)
|
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
|
|
|
NM_005902.4(SMAD3):c.1155-1G>C
|
rs1963331116
|
|
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs)
|
rs1595965925
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1247C>T (p.Ser416Phe)
|
rs1963334285
|
|
NM_005902.4(SMAD3):c.1268G>T (p.Ser423Ile)
|
|
|
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.207-1G>C
|
rs1962532975
|
|
NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr)
|
rs2140293635
|
|
NM_005902.4(SMAD3):c.228G>T (p.Gln76His)
|
rs886041046
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)
|
rs2140294164
|
|
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)
|
rs886039050
|
|
NM_005902.4(SMAD3):c.401-6G>A
|
rs745672741
|
|
NM_005902.4(SMAD3):c.431_432del (p.Thr144fs)
|
rs2140294762
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
NM_005902.4(SMAD3):c.533-1G>A
|
rs1350129614
|
|
NM_005902.4(SMAD3):c.607+1G>T
|
rs1060500771
|
|
NM_005902.4(SMAD3):c.659-2A>G
|
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)
|
rs1566999423
|
|
NM_005902.4(SMAD3):c.772G>C (p.Asp258His)
|
rs863223738
|
|
NM_005902.4(SMAD3):c.772_797delinsT (p.Asp258fs)
|
|
|
NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu)
|
rs1250669634
|
|
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg)
|
rs1057524127
|
|
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)
|
rs1566999601
|
|
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)
|
rs1566999610
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.872-1G>A
|
rs1555413988
|
|
NM_005902.4(SMAD3):c.872-2A>G
|
|
|
NM_005902.4(SMAD3):c.872-2_881del
|
|
|
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)
|
rs1320208623
|
|
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter)
|
rs869025494
|
|
NM_024817.3(THSD4):c.1533+1G>C
|
|
|
NM_030777.4(SLC2A10):c.483del (p.Trp162fs)
|
rs2123045187
|
|
NM_030777.4(SLC2A10):c.636_648del (p.Arg213fs)
|
|
|
NM_030777.4(SLC2A10):c.761_762del (p.Ala254fs)
|
|
|
NM_053025.4(MYLK):c.2390+2T>C
|
rs1553808296
|
|
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter)
|
rs387906782
|
|
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro)
|
rs387906781
|
|