NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn)
|
rs202086896
|
0.00020
|
NM_002317.7(LOX):c.235G>A (p.Ala79Thr)
|
rs752839330
|
0.00016
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg)
|
rs761892127
|
0.00010
|
NM_002317.7(LOX):c.460C>T (p.Leu154Phe)
|
rs767855588
|
0.00006
|
NM_012186.3(FOXE3):c.457G>C (p.Asp153His)
|
rs367943249
|
0.00006
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu)
|
rs745950487
|
0.00004
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp)
|
rs749960549
|
0.00002
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)
|
rs1553508473
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp)
|
rs1566895247
|
|
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)
|
rs1555394195
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)
|
rs765692335
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002317.7(LOX):c.125G>A (p.Trp42Ter)
|
rs886040966
|
|
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)
|
rs1473260982
|
|
NM_002317.7(LOX):c.743C>T (p.Thr248Ile)
|
rs1561420103
|
|
NM_002317.7(LOX):c.800A>C (p.Gln267Pro)
|
rs886040967
|
|
NM_002317.7(LOX):c.839G>T (p.Ser280Ile)
|
rs886040965
|
|
NM_002474.3(MYH11):c.2222T>C (p.Met741Thr)
|
rs1555560373
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln)
|
rs749181134
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
|
|
|
NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter)
|
rs387906853
|
|
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser)
|
rs1391534565
|
|
XM_005247492.1:c.2736delG
|
|
|