From: Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects
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] |