| 基因名 | 突变 |
|---|---|
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110236466C>T,c.1105G>A,p.D369N |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110234478G>A,c.1184C>T,p.T395M |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110231773T>C,c.1546A>G,p.I516V |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110230597C>T,c.1684G>A,p.V562I |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110226431C>T,c.1982G>A,p.R661H |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110221524C>T,c.2518G>A,p.E840K |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110221473G>T,c.2569C>A,p.Q857K |
| TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) | g.12:110221457C>T,c.2585G>A,p.R862H |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3458072T>C,c.73A>G,p.I25V |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3458053G>A,c.92C>T,p.P31L |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3458050G>C,c.95C>G,p.A32G |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3448468G>A,c.217C>T,p.R73W |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3446885T>C,c.349A>G,p.R117G |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3446840C>T,c.394G>A,p.V132M |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3446839A>G,c.395T>C,p.V132A |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3446791C>T,c.443G>A,p.R148Q |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3445867C>T,c.592G>A,p.D198N |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3436058T>C,c.958A>G,p.M320V |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3433421G>A,c.1142C>T,p.A381V |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3431403C>G,c.1419G>C,p.L473F |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3431387T>A,c.1435A>T,p.M479L |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3431339T>C,c.1483A>G,p.M495V |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3427535C>T,c.1700G>A,p.R567Q |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3427506C>T,c.1729G>A,p.V577I |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3422127C>T,c.1828G>A,p.E610K |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3422073C>T,c.1882G>A,p.A628T |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3421956C>T,c.1999G>A,p.V667I |
| TRPV3(NM_001258205,transient receptor potential cation channel, subfamily V, member 3,791aa) | g.17:3421949A>G,c.2006T>C,p.L669P |