| 基因名 | 突变 |
|---|---|
| CPNE3(NM_003909,copine III,537aa) | g.8:87567168G>A,c.1210G>A,p.V404M |
| CPNE3(NM_003909,copine III,537aa) | g.8:87567099G>A,c.1141G>A,p.A381T |
| CPNE3(NM_003909,copine III,537aa) | g.8:87560663G>A,c.1013+1G>A,p.338Donor |
| CPNE3(NM_003909,copine III,537aa) | g.8:87560625C>T,c.976C>T,p.L326F |
| CPNE3(NM_003909,copine III,537aa) | g.8:87558846G>C,c.756G>C,p.E252D |
| CPNE3(NM_003909,copine III,537aa) | g.8:87556968G>A,c.634G>A,p.V212M |
| CPNE3(NM_003909,copine III,537aa) | g.8:87541287G>A,c.247G>A,p.D83N |
| CPNE3(NM_003909,copine III,537aa) | g.8:87541204T>C,c.164T>C,p.L55S |
| CPNE3(NM_003909,copine III,537aa) | g.8:87540802C>T,c.29C>T,p.A10V |
| CPNE2(NM_152727,copine II,548aa) | g.16:57155014T>C,c.691T>C,p.Y231H |
| CPNE2(NM_152727,copine II,548aa) | g.16:57149461C>T,c.434C>T,p.T145M |
| CPNE2(NM_152727,copine II,548aa) | g.16:57144813G>C,c.159G>C,p.E53D |
| CPNE2(NM_152727,copine II,548aa) | g.16:57144689C>T,c.35C>T,p.A12V |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220755C>T,c.106G>A,p.V36I |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220740C>T,c.121G>A,p.V41M |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220603G>A,c.160C>T,p.R54W |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220597G>A,c.166C>T,p.R56W |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220548C>A,c.215G>T,p.R72L |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220540T>C,c.223A>G,p.T75A |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220234G>A,c.398C>T,p.T133M |
| CPNE1(NM_003915,copine I,542aa) | g.20:34220106C>G,c.450G>C,p.E150D |
| CPNE1(NM_003915,copine I,542aa) | g.20:34219496T>C,c.647A>G,p.Q216R |
| CPNE1(NM_003915,copine I,542aa) | g.20:34219483A>C,c.660T>G,p.Y220X |
| CPNE1(NM_003915,copine I,542aa) | g.20:34219455C>T,c.688G>A,p.G230S |
| CPNE1(NM_003915,copine I,542aa) | g.20:34219431G>A,c.712C>T,p.Q238X |
| CPNE1(NM_003915,copine I,542aa) | g.20:34219415G>A,c.728C>T,p.P243L |
| CPNE1(NM_003915,copine I,542aa) | g.20:34218673G>C,c.1055C>G,p.P352R |
| CPNE1(NM_003915,copine I,542aa) | g.20:34215234_34215235insA,c.1218_1219insT,p.406fs |