| 基因名 | 突变 |
|---|---|
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114189184C>T,c.2075C>T,p.P692L |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114189180C>T,c.2071C>T,p.P691S |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114165431T>C,c.1175T>C,p.M392T |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114133198A>G,c.856A>G,p.M286V |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114133195T>C,c.853T>C,p.Y285H |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114128161C>G,c.706C>G,p.L236V |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114123248A>G,c.518A>G,p.E173G |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:113933675A>G,c.20A>G,p.K7R |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77885857G>A,c.1450C>T,p.H484Y |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77797349T>A,c.2480A>T,p.Y827F |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77797313C>T,c.2516G>A,p.R839H |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77789464G>T,c.2723C>A,p.P908H |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77789464G>C,c.2723C>G,p.P908R |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77649102G>T,c.3898C>A,p.L1300I |
| MAGI2(NM_012301,membrane associated guanylate kinase, WW and PDZ domain containing 2,1455aa) | g.7:77649089C>T,c.3911G>A,p.G1304D |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:66023754C>T,c.230G>A,p.R77Q |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65464335T>C,c.689A>G,p.N230S |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65464267C>T,c.757G>A,p.A253T |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65456156T>A,c.761A>T,p.D254V |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65456154A>T,c.763T>A,p.S255T |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65456135T>C,c.782A>G,p.H261R |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65438963G>T,c.1012C>A,p.Q338K |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65438949T>A,c.1026A>T,p.E342D |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65428480T>C,c.1123A>G,p.I375V |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65425560_65425561insCTG,c.1263_1264insCAG,p.421_422ins1aa |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65376943T>G,c.2290A>C,p.T764P |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65376819C>T,c.2414G>A,p.R805Q |
| MAGI1(NM_015520,membrane associated guanylate kinase, WW and PDZ domain containing 1,1287aa) | g.3:65372850_65372851del,c.2467_2468del,p.823fs |