NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)
|
rs1597583989
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)
|
rs1597633183
|
|
NM_000138.5(FBN1):c.1960+1G>C
|
rs1555399804
|
|
NM_000138.5(FBN1):c.2130dup (p.Cys711fs)
|
rs1597571391
|
|
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs)
|
rs1597563287
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter)
|
rs1597545257
|
|
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs)
|
rs1597543486
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs)
|
rs1597533713
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6149del (p.Gly2050fs)
|
rs1597529686
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7820-1G>C
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|