Background
Methods
Patients
Mutation screening
Results and discussion
FAMILY | PHENOTYPE | NUCLEOTIDE CHANGE | CONSEQUENCE | REFERENCE |
---|---|---|---|---|
147 | AFAP | c.220G>T | p.Glu74X (*) | Current paper |
229
|
AFAP
|
c.230T>G
|
p.Leu77X
|
Current paper
|
177
|
AFAP
|
c.288_289insCC
|
p.Gly97ProfsX29
|
Current paper
|
176
|
AFAP
|
c.505_509delATAGA
|
p.Ile169X
|
Current paper
|
150 | FAP | c.517_520delCCTT | p.Pro173X | [20] |
179
|
AFAP (V)
|
c.531+1G>T
|
*
|
Current paper
|
155 | FAP | c.637C>T | p.Arg213X | [25] |
208 | FAP | c.637C>T | p.Arg213X | [25] |
164
|
FAP
|
c.645+1G>T
|
*
|
Current paper
|
144 | FAP | c.646C>T | p.Arg216X | [26] |
162 | FAP | c.646C>T | p.Arg216X | [26] |
174 | FAP | c.646C>T | p.Arg216X | [26] |
S8 | FAP | c.646C>T | p.Arg216X | [26] |
S7
|
FAP (L)
|
c.759_787del29
|
p.His255ArgfsX11
|
Current paper
|
S14 | FAP (L) | c.834+1G>A | * | [14] |
226
|
FAP
|
c.880delT
|
p.Ser294LeufsX11
|
Current paper
|
211 | AFAP | c.994C>T | p.Arg332X | [27] |
262
|
AFAP
|
c.1102_1103delGT
|
p.Val368IlefsX9
|
Current paper
|
220
|
AFAP
|
c.1111G>T
|
p.Gly371X
|
Current paper
|
202
|
FAP
|
c.1251delT
|
p.Cys417TrpfsX37
|
Current paper
|
215
|
FAP (L)
|
c.1284delA
|
p.Glu428AspfsX26
|
Current paper
|
S16
|
FAP
|
c.1370C>G
|
p.Ser457X
|
Current paper
|
173 | FAP | c.1411G>T | p.Gly471X | [12] |
S1
|
FAP
|
c.1624C>T
|
p.Gln542X
|
Current paper
|
157
|
FAP
|
c.2024delC
|
p.Thr675LysfsX2
|
Current paper
|
145
|
AFAP (V)
|
c.2031_2034delCAGT
|
p.Ser678MetfsX39
|
Current paper
|
203
|
FAP
|
c.2031_2034delCAGT
|
p.Ser678MetfsX39
|
Current paper
|
233
|
FAP
|
c.2390delG
|
p.Gly797ValfsX23
|
Current paper
|
171 | FAP | c.2626C>T | p.Arg876X | [28] |
S15 | FAP (L) | c.2800_2803delACTT | p.Tyr935IlefsX19 | [29] |
195 | FAP | c.2805C>A | p.Tyr935X | [30] |
242 | FAP | c.2805C>A | p.Tyr935X | [30] |
206
|
FAP
|
c.2977_2980dupAAGT
|
p.Phe994X
|
Current paper
|
S10
|
FAP
|
c.3413delA
|
p.Asp1138ValfsX27
|
Current paper
|
153 | FAP | c.3471_3474delGAGA | p.Glu1157AspfsX7 | [31] |
181 | FAP | c.3471_3474delGAGA | p.Glu1157AspfsX7 | [31] |
240
|
FAP
|
c.3513dupT
|
p.His1172SerfsX7
|
Current paper
|
225 | FAP | c.3786T>A | p.Tyr1262X | [4] |
183 | FAP | c.3927_3931delAAAGA | p.Glu1309AspfsX4 | [25] |
205 | FAP | c.3927_3931delAAAGA | p.Glu1309AspfsX4 | [25] |
218 | FAP | c.3927_3931delAAAGA | p.Glu1309AspfsX4 | [25] |
248 | FAP | c.3927_3931delAAAGA | p.Glu1309AspfsX4 | [25] |
S12 | FAP | c.4666dupA | p.Thr1556AsnfsX3 | [32] |