|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
|
NM_000138.5(FBN1):c.*2360C>G
|
rs144404153
|
0.00024
|
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
|
NM_000138.5(FBN1):c.*1437G>A
|
rs549498511
|
0.00001
|
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
|
NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly)
|
rs1566903931
|
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
|
NM_000138.5(FBN1):c.*1950dup
|
rs535798341
|
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
|
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
|
|
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
|
NM_000138.5(FBN1):c.2506del (p.Ser836fs)
|
rs1566911709
|
|
|
NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs)
|
rs1131692049
|
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
|
NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly)
|
rs1597529691
|
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
|
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
|
|