| 基因名 | 突变 |
|---|---|
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38179134G>A,c.776G>A,p.G259D |
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38179056A>G,c.698A>G,p.N233S |
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38179034G>A,c.676G>A,p.D226N |
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38178966T>G,c.608T>G,p.I203S |
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38178908A>G,c.550A>G,p.T184A |
| RMDN2(NM_144713,regulator of microtubule dynamics 2,573aa) | g.2:38178404C>T,c.46C>T,p.R16X |
| RMDN1(NM_016033,regulator of microtubule dynamics 1,314aa) | g.8:87519315T>G,c.156A>C,p.K52N |
| RMDN1(NM_016033,regulator of microtubule dynamics 1,314aa) | g.8:87498829C>G,c.379G>C,p.D127H |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67691408G>A,c.4295G>A,p.G1432D |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67688272G>C,c.3259G>C,p.A1087P |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67688103G>A,c.3172G>A,p.E1058K |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67686382G>A,c.2825G>A,p.S942N |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67686232_67686234del,c.2807_2809del,p.936_937del |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685900C>T,c.2665C>T,p.R889W |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685894G>A,c.2659G>A,p.A887T |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685832G>A,c.2597G>A,p.R866Q |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685730A>T,c.2570A>T,p.D857V |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685694G>A,c.2534G>A,p.G845D |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685613C>T,c.2453C>T,p.T818I |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67685175G>A,c.2270G>A,p.R757H |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67683840G>A,c.2051G>A,p.R684H |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67683449A>G,c.1846A>G,p.I616V |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67682157C>T,c.1274C>T,p.S425F |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67680806G>A,c.541G>A,p.V181M |
| RLTPR(NM_001013838,RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,1435aa) | g.16:67680370G>A,c.416G>A,p.R139Q |
| RLN3(NM_080864,relaxin 3,142aa) | g.19:14141666G>T,c.335G>T,p.G112V |
| RLN2(NM_005059,relaxin 2,117aa) | g.9:5304578C>A,c.3G>T,p.M1I |
| RLN2(NM_005059,relaxin 2,117aa) | g.9:5304378G>T,c.203C>A,p.P68Q |