NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
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.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
|
|
|
NM_000138.4(FBN1):c.5067_5073delTATGAGA
|
rs886038823
|
|
NM_000138.5(FBN1):c.111del (p.Arg38fs)
|
rs1555407416
|
|
NM_000138.5(FBN1):c.1191dup (p.Arg398fs)
|
rs886038972
|
|
NM_000138.5(FBN1):c.1211dup (p.Pro405fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1216del (p.Gly407fs)
|
rs2141331057
|
|
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs)
|
rs2043800325
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1328-1G>A
|
|
|
NM_000138.5(FBN1):c.1427dup (p.Cys476fs)
|
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1495del (p.Cys499fs)
|
|
|
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter)
|
rs1555400285
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)
|
rs113902534
|
|
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)
|
rs886038963
|
|
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
|
|
|
NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs)
|
rs1555399839
|
|
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter)
|
rs397515764
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1852dup (p.Glu618fs)
|
rs1555399835
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1878del (p.Arg627fs)
|
|
|
NM_000138.5(FBN1):c.1891del (p.Thr631fs)
|
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2113+1G>A
|
rs1566913670
|
|
NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)
|
|
|
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)
|
|
|
NM_000138.5(FBN1):c.2168-2A>G
|
rs1555399388
|
|
NM_000138.5(FBN1):c.2213dup (p.Cys739fs)
|
rs1555399379
|
|
NM_000138.5(FBN1):c.2227del (p.Arg743fs)
|
rs886038769
|
|
NM_000138.5(FBN1):c.2292del (p.Asp765fs)
|
rs2141306307
|
|
NM_000138.5(FBN1):c.2293+1G>A
|
rs1060501092
|
|
NM_000138.5(FBN1):c.2408_2412dup (p.Cys805fs)
|
|
|
NM_000138.5(FBN1):c.2428G>T (p.Glu810Ter)
|
|
|
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)
|
rs193921256
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter)
|
rs886038941
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs)
|
rs1555405534
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2665del (p.Leu889fs)
|
rs1555399147
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2725del (p.Glu909fs)
|
rs886038804
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2783del (p.Asn928fs)
|
|
|
NM_000138.5(FBN1):c.2814del (p.Ser939fs)
|
rs1131691766
|
|
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)
|
rs1555398828
|
|
NM_000138.5(FBN1):c.2906del (p.Leu969fs)
|
rs886039154
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
|
|
|
NM_000138.5(FBN1):c.3082+1G>C
|
rs886038996
|
|
NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter)
|
rs886039054
|
|
NM_000138.5(FBN1):c.319del (p.Gln106_Ile107insTer)
|
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3269del (p.Pro1090fs)
|
rs35656954
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3333C>A (p.Cys1111Ter)
|
|
|
NM_000138.5(FBN1):c.3356_3359del (p.Arg1119fs)
|
|
|
NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter)
|
rs372404949
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr)
|
rs137854469
|
|
NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter)
|
rs886039196
|
|
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)
|
rs1555398283
|
|
NM_000138.5(FBN1):c.3815del (p.Ser1272fs)
|
rs1555398272
|
|
NM_000138.5(FBN1):c.3821del (p.Asp1274fs)
|
|
|
NM_000138.5(FBN1):c.3838+2T>C
|
|
|
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs)
|
rs113603747
|
|
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3947del (p.Gly1316fs)
|
rs1555398143
|
|
NM_000138.5(FBN1):c.3975del (p.Glu1325fs)
|
|
|
NM_000138.5(FBN1):c.3G>T (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4122C>A (p.Cys1374Ter)
|
|
|
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter)
|
rs886038937
|
|
NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs)
|
rs886038970
|
|
NM_000138.5(FBN1):c.4188del (p.Gly1397fs)
|
rs1555397652
|
|
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)
|
rs1555397646
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.438dup (p.Gln147fs)
|
|
|
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)
|
rs886039036
|
|
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs)
|
rs886038846
|
|
NM_000138.5(FBN1):c.4471T>A (p.Cys1491Ser)
|
|
|
NM_000138.5(FBN1):c.454del (p.Ser152fs)
|
|
|
NM_000138.5(FBN1):c.4562del (p.Pro1521fs)
|
rs886039035
|
|
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)
|
rs397515812
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4704dup (p.Ala1569fs)
|
rs1555397154
|
|
NM_000138.5(FBN1):c.4721del (p.Cys1574fs)
|
rs1555397148
|
|
NM_000138.5(FBN1):c.4733del (p.Pro1578fs)
|
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4813del (p.Glu1605fs)
|
rs1555397016
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4817-1G>C
|
|
|
NM_000138.5(FBN1):c.4888del (p.Gln1630fs)
|
rs1555397000
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)
|
rs113905529
|
|
NM_000138.5(FBN1):c.4942+2T>G
|
|
|
NM_000138.5(FBN1):c.4956del (p.Cys1652fs)
|
rs886038979
|
|
NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)
|
|
|
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)
|
rs140627
|
|
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser)
|
rs140627
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter)
|
rs886038766
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5288T>A (p.Leu1763Ter)
|
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5536del (p.Gln1846fs)
|
rs886039167
|
|
NM_000138.5(FBN1):c.558T>A (p.Cys186Ter)
|
rs1555401699
|
|
NM_000138.5(FBN1):c.5657_5665delinsGC (p.Gln1886fs)
|
|
|
NM_000138.5(FBN1):c.5720del (p.Asn1907fs)
|
rs886038959
|
|
NM_000138.5(FBN1):c.5789-2A>G
|
rs886038790
|
|
NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.595del (p.Leu199fs)
|
|
|
NM_000138.5(FBN1):c.5988C>A (p.Tyr1996Ter)
|
|
|
NM_000138.5(FBN1):c.6053del (p.Val2018fs)
|
|
|
NM_000138.5(FBN1):c.6113G>T (p.Cys2038Phe)
|
|
|
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
|
|
|
NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs)
|
rs1555395461
|
|
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)
|
rs763091520
|
|
NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter)
|
rs1304643689
|
|
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6331del (p.Cys2111fs)
|
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser)
|
rs1555395206
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6454G>T (p.Glu2152Ter)
|
|
|
NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter)
|
rs886038957
|
|
NM_000138.5(FBN1):c.6497-2A>G
|
|
|
NM_000138.5(FBN1):c.650G>A (p.Trp217Ter)
|
rs1555401686
|
|
NM_000138.5(FBN1):c.6590del (p.Glu2197fs)
|
|
|
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer)
|
rs1555395002
|
|
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6646_6650del (p.Leu2216fs)
|
rs1555394927
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6675del (p.Thr2224_Tyr2225insTer)
|
|
|
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs)
|
rs886044547
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6733T>C (p.Cys2245Arg)
|
|
|
NM_000138.5(FBN1):c.6740-1G>A
|
rs1555394781
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6963del (p.Phe2322fs)
|
rs1060501051
|
|
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)
|
rs1199524458
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs)
|
rs886038955
|
|
NM_000138.5(FBN1):c.7104_7105delinsTT (p.Arg2369Ter)
|
|
|
NM_000138.5(FBN1):c.7120del (p.His2374fs)
|
rs1555394566
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7161del (p.Lys2388fs)
|
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)
|
rs878853689
|
|
NM_000138.5(FBN1):c.7330+1G>A
|
rs1555394433
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
|
|
|
NM_000138.5(FBN1):c.7412del (p.Pro2471fs)
|
rs1555394396
|
|
NM_000138.5(FBN1):c.7472_7475del (p.Thr2491fs)
|
|
|
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)
|
rs363810
|
|
NM_000138.5(FBN1):c.7545dup (p.Thr2516fs)
|
|
|
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter)
|
rs1566891808
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val)
|
rs1566891654
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs)
|
rs1555394151
|
|
NM_000138.5(FBN1):c.7741T>A (p.Cys2581Ser)
|
|
|
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7780dup (p.Gln2594fs)
|
rs1555394146
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter)
|
rs886038975
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter)
|
rs1566890005
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7864T>G (p.Cys2622Gly)
|
|
|
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)
|
rs2141214889
|
|
NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter)
|
rs886038870
|
|
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)
|
rs1555393844
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000138.5(FBN1):c.8051_8051+1delinsT
|
rs1555393823
|
|
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
|
rs2042873946
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)
|
|
|
NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)
|
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)
|
rs1555393647
|
|
NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)
|
rs1555393539
|
|
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs)
|
rs886039034
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)
|
|
|
NM_000138.5(FBN1):c.88G>T (p.Glu30Ter)
|
|
|
NM_000138.5(FBN1):c.923_926del (p.Val308fs)
|
|
|
NM_000138.5(FBN1):c.963del (p.Ser322fs)
|
|
|
NM_000138.5(FBN1):c.969delinsCC (p.Asp324fs)
|
|
|