|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
|
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)
|
rs869025406
|
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
|
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)
|
rs587782947
|
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|
|
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)
|
rs587782948
|
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
|
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)
|
rs869025429
|
|