NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)
|
rs397515778
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.32_42del (p.Leu11fs)
|
rs397515785
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)
|
rs397515803
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
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.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)
|
rs397515834
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)
|
rs397516840
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)
|
rs876658120
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)
|
rs727503472
|
|
NM_005902.4(SMAD3):c.206+1G>C
|
rs770098673
|
|