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.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)
|
rs1597652471
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)
|
rs1597579923
|
|
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp)
|
rs1008275504
|
|
NM_000138.5(FBN1):c.2294-2A>G
|
|
|
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp)
|
rs1597569551
|
|
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)
|
rs1597569265
|
|
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg)
|
rs1597567249
|
|
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter)
|
rs1364210063
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter)
|
rs1597552583
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.458del (p.Gly153fs)
|
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter)
|
rs1597545199
|
|
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)
|
rs1597540907
|
|
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr)
|
rs1597540854
|
|
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)
|
rs761857514
|
|
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)
|
rs1597593852
|
|
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe)
|
rs1597537858
|
|
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser)
|
rs112728248
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.661del (p.Cys221fs)
|
rs1597593695
|
|
NM_000138.5(FBN1):c.6751del (p.Cys2251fs)
|
rs1597520781
|
|
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
|
rs1597520625
|
|
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs)
|
rs1597520619
|
|
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)
|
rs1597517935
|
|
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)
|
rs1597506641
|
|
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter)
|
rs1597591602
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|