| 基因名 | 突变 |
|---|---|
| FRMPD2(NM_001018071,FERM and PDZ domain containing 2,1309aa) | g.10:49389016T>C,c.2620A>G,p.S874G |
| FRMPD2(NM_001018071,FERM and PDZ domain containing 2,1309aa) | g.10:49386184G>T,c.2801C>A,p.S934Y |
| FRMPD2(NM_001018071,FERM and PDZ domain containing 2,1309aa) | g.10:49383978C>T,c.2900G>A,p.G967D |
| FRMPD2(NM_001018071,FERM and PDZ domain containing 2,1309aa) | g.10:49383976T>C,c.2902A>G,p.I968V |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37746671G>A,c.4642G>A,p.D1548N |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37746572G>A,c.4543G>A,p.A1515T |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37746563C>T,c.4534C>T,p.R1512C |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37745841C>T,c.3812C>T,p.T1271I |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37745690G>A,c.3661G>A,p.V1221I |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37745562C>T,c.3533C>T,p.P1178L |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37745439C>T,c.3410C>T,p.P1137L |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37744993A>C,c.2964A>C,p.Q988H |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37744869G>A,c.2840G>A,p.R947Q |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37744862C>T,c.2833C>T,p.R945C |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37744565T>G,c.2536T>G,p.Y846D |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37740726C>T,c.2201C>T,p.P734L |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37740669C>T,c.2144C>T,p.P715L |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37740594G>A,c.2069G>A,p.S690N |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37740137C>G,c.1612C>G,p.P538A |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37735615A>G,c.1285A>G,p.N429D |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37733752G>A,c.1148G>A,p.R383H |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37733546A>G,c.1072A>G,p.I358V |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37732389G>A,c.947G>A,p.R316Q |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37732367G>A,c.925G>A,p.A309T |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37732346T>C,c.904T>C,p.C302R |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37729786C>T,c.674C>T,p.A225V |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37711388C>T,c.404C>T,p.T135M |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37711382G>A,c.398G>A,p.R133H |