| 基因名 | 突变 |
|---|---|
| POTEB2(NM_001277303,POTE ankyrin domain family, member B2,544aa) | g.15:22074657C>G,c.745G>C,p.E249Q |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43211994G>C,c.1453G>C,p.E485Q |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43211950A>C,c.1409A>C,p.H470P |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43172532C>G,c.1011C>G,p.C337W |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43159880T>A,c.872T>A,p.M291K |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43157139G>A,c.719G>A,p.R240H |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43155707G>A,c.635G>A,p.R212Q |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43155706C>T,c.634C>T,p.R212X |
| POTEA(NM_001005365,POTE ankyrin domain family, member A,498aa) | g.8:43152162G>C,c.300-1G>C,p.100Acceptor |
| POT1(NM_015450,protection of telomeres 1,634aa) | g.7:124491972C>A,c.903G>T,p.Q301H |
| POT1(NM_015450,protection of telomeres 1,634aa) | g.7:124482897T>C,c.1127A>G,p.Q376R |
| POT1(NM_015450,protection of telomeres 1,634aa) | g.7:124481185C>A,c.1211G>T,p.G404V |
| POT1(NM_015450,protection of telomeres 1,634aa) | g.7:124481168C>G,c.1228G>C,p.D410H |
| POT1(NM_015450,protection of telomeres 1,634aa) | g.7:124464089T>C,c.1832A>G,p.N611S |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38160989C>T,c.683G>A,p.R228H |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38156538C>T,c.1357G>A,p.G453R |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38153424T>A,c.1733A>T,p.E578V |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38145569C>G,c.2116G>C,p.E706Q |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38144735C>T,c.2251G>A,p.E751K |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38143472A>G,c.2396T>C,p.F799S |
| POSTN(NM_006475,periostin, osteoblast specific factor,836aa) | g.13:38138689C>T,c.2440G>A,p.V814M |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615552G>A,c.1891G>A,p.V631I |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615537G>A,c.1876G>A,p.G626S |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615481A>G,c.1820A>G,p.Y607C |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615286C>T,c.1715C>T,p.S572L |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615280G>A,c.1709G>A,p.R570H |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615113G>A,c.1615G>A,p.G539R |
| POR(NM_000941,P450 (cytochrome) oxidoreductase,680aa) | g.7:75615023C>T,c.1525C>T,p.R509C |