NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|