| 基因名 | 突变 |
|---|---|
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46689919C>T,c.847G>A,p.A283T |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46689829C>T,c.937G>A,p.V313M |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46689796G>A,c.970C>T,p.R324W |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46689795C>T,c.971G>A,p.R324Q |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46689763C>T,c.1003G>A,p.V335I |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46687542C>T,c.1099G>A,p.V367I |
| POFUT2(NM_015227,protein O-fucosyltransferase 2,424aa) | g.21:46687469G>A,c.1172C>T,p.S391L |
| POFUT1(NM_015352,protein O-fucosyltransferase 1,388aa) | g.20:30818850C>T,c.964C>T,p.L322F |
| POFUT1(NM_015352,protein O-fucosyltransferase 1,388aa) | g.20:30818637A>G,c.751A>G,p.M251V |
| POFUT1(NM_015352,protein O-fucosyltransferase 1,388aa) | g.20:30816124G>A,c.601G>A,p.V201I |
| POF1B(NM_024921,premature ovarian failure, 1B,589aa) | g.X:84600873C>G,c.716G>C,p.C239S |
| POF1B(NM_024921,premature ovarian failure, 1B,589aa) | g.X:84563194C>T,c.986G>A,p.R329Q |
| POF1B(NM_024921,premature ovarian failure, 1B,589aa) | g.X:84563135T>A,c.1045A>T,p.M349L |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131241052A>G,c.67T>C,p.S23P |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131241049G>A,c.70C>T,p.P24S |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131241030_131241035del,c.84_89del,p.28_30del |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131196153G>A,c.140C>T,p.P47L |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131195959C>T,c.334G>A,p.G112S |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131195917T>G,c.376A>C,p.T126P |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131195712G>A,c.581C>T,p.S194L |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131195709G>A,c.584C>T,p.T195M |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131194291T>C,c.856A>G,p.S286G |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131194255G>C,c.892C>G,p.P298A |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131193739C>T,c.1072G>A,p.V358I |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131191476C>T,c.1111G>A,p.A371T |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131191401C>T,c.1186G>A,p.G396S |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131191394C>T,c.1193G>A,p.R398Q |
| PODXL(NM_001018111,podocalyxin-like,558aa) | g.7:131191031A>C,c.1299T>G,p.D433E |