| 基因名 | 突变 |
|---|---|
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93595885C>G,c.1795G>C,p.D599H |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93593119T>C,c.2001A>G,p.P667P |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177422876T>C,c.59A>G,p.N20S |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177421270C>T,c.179G>A,p.G60E |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177421147_177421148del,c.301_302del,p.101fs |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177421138C>T,c.311G>A,p.R104Q |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177421114C>T,c.335G>A,p.R112Q |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177419967C>T,c.424G>A,p.A142T |
| PROP1(NM_006261,PROP paired-like homeobox 1,226aa) | g.5:177419966G>A,c.425C>T,p.A142V |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95954721C>T,c.2482C>T,p.R828W |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95954294G>A,c.2398G>A,p.V800I |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95954266C>A,c.2370C>A,p.F790L |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95954264T>C,c.2368T>C,p.F790L |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95954013C>T,c.2299C>T,p.R767C |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95947945G>A,c.1699G>A,p.D567N |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95947099G>A,c.1537G>A,p.G513S |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95947085A>G,c.1523A>G,p.Q508R |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95945746G>A,c.1427+1G>A,p.476Donor |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95945621G>A,c.1303G>A,p.V435M |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95945600G>A,c.1282G>A,p.V428M |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95944853G>A,c.1235G>A,p.R412H |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95944814G>A,c.1196G>A,p.R399H |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95942803G>A,c.766G>A,p.G256S |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95942722G>C,c.685G>C,p.V229L |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95942010G>A,c.533G>A,p.R178H |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95941838C>T,c.455C>T,p.A152V |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95941820C>T,c.437C>T,p.A146V |
| PROM2(NM_001165978,prominin 2,834aa) | g.2:95941721C>T,c.338C>T,p.A113V |