| 基因名 | 突变 |
|---|---|
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898889G>A,c.383C>T,p.T128M |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898884G>A,c.388C>T,p.R130C |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898835G>A,c.437C>T,p.T146M |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154897619G>A,c.565C>T,p.R189C |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6045634T>C,c.52A>G,p.I18V |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6045627C>T,c.59G>A,p.R20Q |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6043687G>C,c.166C>G,p.L56V |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6043673G>C,c.180C>G,p.D60E |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6042242C>T,c.379G>A,p.A127T |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6042146C>T,c.475G>A,p.V159M |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6038824C>T,c.620G>A,p.G207E |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6035185G>A,c.883C>T,p.R295W |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6031668C>G,c.924G>C,p.E308D |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6031631C>T,c.961G>A,p.V321I |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6031630A>G,c.962T>C,p.V321A |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026988G>A,c.1408C>T,p.P470S |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026959G>C,c.1437C>G,p.H479Q |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026942G>T,c.1454C>A,p.T485K |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026865T>C,c.1531A>G,p.T511A |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026864G>A,c.1532C>T,p.T511M |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026829A>T,c.1567T>A,p.S523T |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026775T>C,c.1621A>G,p.K541E |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026708C>A,c.1688G>T,p.R563L |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026685G>T,c.1711C>A,p.L571I |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026682C>T,c.1714G>A,p.A572T |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026679T>A,c.1717A>T,p.T573S |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026658T>A,c.1738A>T,p.K580X |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026607T>A,c.1789A>T,p.T597S |