| 基因名 | 突变 |
|---|---|
| ISPD(NM_001101426,isoprenoid synthase domain containing,451aa) | g.7:16317773A>C,c.914T>G,p.V305G |
| ISPD(NM_001101426,isoprenoid synthase domain containing,451aa) | g.7:16298561T>C,c.1010A>G,p.N337S |
| ISPD(NM_001101426,isoprenoid synthase domain containing,451aa) | g.7:16298080G>T,c.1054C>A,p.Q352K |
| ISPD(NM_001101426,isoprenoid synthase domain containing,451aa) | g.7:16255722A>G,c.1220T>C,p.L407S |
| ISPD(NM_001101426,isoprenoid synthase domain containing,451aa) | g.7:16255696G>A,c.1246C>T,p.P416S |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967801A>G,c.53T>C,p.L18P |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967789T>A,c.65A>T,p.D22V |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967772G>A,c.82C>T,p.R28C |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967727G>A,c.127C>T,p.R43C |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967161C>G,c.190G>C,p.G64R |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55967013G>A,c.338C>T,p.A113V |
| ISOC2(NM_024710,isochorismatase domain containing 2,221aa) | g.19:55964723G>C,c.618C>G,p.D206E |
| ISOC1(NM_016048,isochorismatase domain containing 1,298aa) | g.5:128441007A>G,c.559A>G,p.M187V |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77951124C>T,c.280G>A,p.A94T |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77951117G>C,c.287C>G,p.P96R |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77950896G>C,c.397C>G,p.P133A |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77948708C>G,c.930G>C,p.W310C |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77948698C>T,c.940G>A,p.G314R |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77945054A>C,c.978T>G,p.Y326X |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77944624T>C,c.1159A>G,p.K387E |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77942425C>T,c.1229G>A,p.C410Y |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77942315C>T,c.1339G>A,p.E447K |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77942264G>A,c.1390C>T,p.R464C |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77942225G>A,c.1429C>T,p.R477C |
| ISM2(NM_199296,isthmin 2,571aa) | g.14:77942224C>T,c.1430G>A,p.R477H |
| ISM1(NM_080826,isthmin 1, angiogenesis inhibitor,464aa) | g.20:13279957T>C,c.1246T>C,p.Y416H |
| ISM1(NM_080826,isthmin 1, angiogenesis inhibitor,464aa) | g.20:13279873G>A,c.1162G>A,p.G388S |
| ISM1(NM_080826,isthmin 1, angiogenesis inhibitor,464aa) | g.20:13279717G>A,c.1006G>A,p.D336N |