NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln)
|
rs781392453
|
0.00002
|
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)
|
rs140245968
|
0.00002
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys)
|
rs774250442
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)
|
rs1566911957
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
|
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)
|
rs1597631624
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)
|
rs397515794
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.5836del (p.Gln1946fs)
|
rs2141249251
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)
|
rs113543334
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe)
|
rs1581251031
|
|
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
|
|
|
NM_001999.4(FBN2):c.255-3C>G
|
rs2112809259
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)
|
rs138303817
|
|
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)
|
rs886038767
|
|
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)
|
rs1561733846
|
|
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)
|
rs1379970824
|
|
NM_003239.5(TGFB3):c.352+124C>G
|
|
|
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)
|
rs925224125
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)
|
rs121918715
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer)
|
rs2118625345
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|