| 基因名 | 突变 |
|---|---|
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43547582A>C,c.539A>C,p.E180A |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43545505C>T,c.496C>T,p.R166C |
| PAAF1(NM_001267803,proteasomal ATPase-associated factor 1,375aa) | g.11:73620635C>T,c.673C>T,p.P225S |
| PAAF1(NM_001267803,proteasomal ATPase-associated factor 1,375aa) | g.11:73620537C>G,c.575C>G,p.A192G |
| PAAF1(NM_001267803,proteasomal ATPase-associated factor 1,375aa) | g.11:73620462T>A,c.500T>A,p.I167N |
| PAAF1(NM_001267803,proteasomal ATPase-associated factor 1,375aa) | g.11:73611349G>C,c.365G>C,p.C122S |
| PAAF1(NM_001267803,proteasomal ATPase-associated factor 1,375aa) | g.11:73602240_73602241del,c.225_226del,p.75fs |
| PA2G4(NM_006191,proliferation-associated 2G4, 38kDa,394aa) | g.12:56500502_56500503insA,c.217+2insA,p.73Donorins |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49044154_49044155insG,c.1506_1507insG,p.502fs |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49043292G>A,c.1339G>A,p.D447N |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49042562G>A,c.1156G>A,p.V386M |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49041623C>T,c.817C>T,p.R273W |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49041612G>C,c.806G>C,p.S269T |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49039984A>G,c.679A>G,p.I227V |
| P4HTM(NM_177938,prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum),563aa) | g.3:49039982G>A,c.677G>A,p.S226N |
| P4HB(NM_000918,prolyl 4-hydroxylase, beta polypeptide,508aa) | g.17:79817176C>G,c.233G>C,p.R78T |
| P4HB(NM_000918,prolyl 4-hydroxylase, beta polypeptide,508aa) | g.17:79817128T>C,c.281A>G,p.Y94C |
| P4HB(NM_000918,prolyl 4-hydroxylase, beta polypeptide,508aa) | g.17:79803582G>A,c.1214C>T,p.P405L |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:74013541T>G,c.440A>C,p.Y147S |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:74013514C>T,c.467G>A,p.R156Q |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:73997310T>C,c.896A>G,p.D299G |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:73988167C>T,c.1198G>A,p.D400N |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:73988140G>A,c.1225C>T,p.R409C |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:73988031G>A,c.1334C>T,p.T445M |
| P4HA3(NM_182904,prolyl 4-hydroxylase, alpha polypeptide III,544aa) | g.11:73978324C>T,c.1604G>A,p.R535H |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131554306A>G,c.14T>C,p.V5A |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131543571G>A,c.910C>T,p.R304C |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131543523G>A,c.958C>T,p.P320S |