NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)
|
rs200018073
|
0.00002
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)
|
rs1555399963
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)
|
rs1060501024
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)
|
rs1597553721
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)
|
rs2043337738
|
|
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)
|
rs1597548716
|
|
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)
|
rs1555393510
|
|
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs)
|
rs1659897581
|
|
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)
|
rs727504292
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
|
rs863223852
|
|
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)
|
rs1554701914
|
|
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala)
|
rs1554700650
|
|
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
|
rs1588590301
|
|