NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00003
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)
|
rs565227443
|
0.00001
|
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)
|
rs1559054653
|
|
NM_000138.5(FBN1):c.1570dup (p.Thr524fs)
|
rs1555400274
|
|
NM_000138.5(FBN1):c.1589-14A>G
|
rs1566915335
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)
|
rs1566937712
|
|
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)
|
rs1566909766
|
|
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)
|
rs1566908956
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)
|
rs1566906537
|
|
NM_000138.5(FBN1):c.4781del (p.Gly1594fs)
|
rs1566904011
|
|
NM_000138.5(FBN1):c.5066-1G>A
|
rs397515819
|
|
NM_000138.5(FBN1):c.5905del (p.Arg1969fs)
|
rs1566898399
|
|
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)
|
rs1566895225
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)
|
rs1566891701
|
|
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)
|
rs1566891645
|
|
NM_000138.5(FBN1):c.974_983del (p.Gly325fs)
|
rs1566919599
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn)
|
rs1940156255
|
|
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn)
|
rs745788222
|
|
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn)
|
rs2136508302
|
|
NM_002317.7(LOX):c.125G>A (p.Trp42Ter)
|
rs886040966
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)
|
rs1596904322
|
|
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)
|
rs863223854
|
|
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)
|
rs886039176
|
|
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
|
rs1564161224
|
|
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu)
|
rs2133982557
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)
|
rs1566999423
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)
|
rs1566999601
|
|
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)
|
rs1566999610
|
|
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)
|
rs797044962
|
|
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)
|
rs200070245
|
|
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)
|
rs797044963
|
|
NM_032436.4(CHAMP1):c.635del (p.Pro212fs)
|
rs797044961
|
|