| 基因名 | 突变 |
|---|---|
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37599857T>G,c.973T>G,p.F325V |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37586877A>G,c.422A>G,p.Y141C |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37586852C>T,c.397C>T,p.R133X |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37586736G>A,c.281G>A,p.R94Q |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37580061A>G,c.250A>G,p.S84G |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37579971C>T,c.160C>T,p.R54W |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46206249C>T,c.1091C>T,p.T364M |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46205167G>A,c.998G>A,p.R333H |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46205071G>A,c.902G>A,p.R301H |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46202131C>T,c.859C>T,p.R287C |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46202123G>A,c.851G>A,p.R284H |
| QPCTL(NM_017659,glutaminyl-peptide cyclotransferase-like,382aa) | g.19:46198825G>A,c.482G>A,p.R161H |
| QKI(NM_206855,QKI, KH domain containing, RNA binding,319aa) | g.6:163876332A>G,c.164A>G,p.D55G |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49139668G>A,c.601C>T,p.R201W |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49138810T>C,c.854A>G,p.N285S |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49138037G>A,c.947C>T,p.T316M |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49137655G>A,c.1132C>T,p.R378C |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49137043C>T,c.1426G>A,p.V476I |
| QARS(NM_005051,glutaminyl-tRNA synthetase,775aa) | g.3:49135801C>T,c.2069G>A,p.R690H |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9360927T>C,c.11A>G,p.D4G |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9356398G>A,c.233C>T,p.A78V |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9355219G>A,c.329C>T,p.T110M |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9354958C>T,c.437G>A,p.R146H |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9353933A>G,c.491T>C,p.I164T |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9353922C>T,c.501+1G>A,p.167Donor |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9353641G>A,c.517C>T,p.R173X |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9349717T>C,c.758A>G,p.Y253C |
| PZP(NM_002864,pregnancy-zone protein,1482aa) | g.12:9346792G>C,c.1135C>G,p.L379V |