| 基因名 | 突变 |
|---|---|
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6026530C>T,c.1866G>A,p.M622I |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6017314C>T,c.2350G>A,p.D784N |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6017269G>A,c.2395C>T,p.R799W |
| PMS2(NM_000535,PMS2 postmeiotic segregation increased 2 (S. cerevisiae),862aa) | g.7:6013049C>G,c.2570G>C,p.G857A |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190742118C>T,c.2755C>T,p.R919C |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190742011G>A,c.2648G>A,p.R883H |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190732622A>G,c.2440A>G,p.T814A |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190732599C>G,c.2417C>G,p.T806S |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190728950G>A,c.2338G>A,p.E780K |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190728507A>G,c.1895A>G,p.N632S |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190719704G>A,c.1706G>A,p.R569Q |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190719350C>T,c.1352C>T,p.T451M |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190708712G>A,c.605G>A,p.R202K |
| PMS1(NM_000534,PMS1 postmeiotic segregation increased 1 (S. cerevisiae),932aa) | g.2:190656564G>A,c.29G>A,p.R10Q |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102952710C>T,c.1462C>T,p.R488C |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102952123G>T,c.1188G>T,p.E396D |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102950891G>A,c.1123G>A,p.A375T |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102949484G>A,c.935G>A,p.C312Y |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102944456C>T,c.625C>T,p.R209W |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102940675G>A,c.378G>A,p.M126I |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102939019T>C,c.104T>C,p.L35S |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102937955C>T,c.49C>T,p.R17W |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102937934T>G,c.28T>G,p.L10V |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102937931G>C,c.25G>C,p.V9L |
| PMPCB(NM_004279,peptidase (mitochondrial processing) beta,489aa) | g.7:102937914C>T,c.8C>T,p.A3V |
| PMPCA(NM_015160,peptidase (mitochondrial processing) alpha,525aa) | g.9:139317590G>T,c.1452G>T,p.M484I |
| PMPCA(NM_015160,peptidase (mitochondrial processing) alpha,525aa) | g.9:139311404C>T,c.635C>T,p.A212V |
| PMPCA(NM_015160,peptidase (mitochondrial processing) alpha,525aa) | g.9:139309031C>T,c.464C>T,p.A155V |