| 基因名 | 突变 |
|---|---|
| PEPD(NM_000285,peptidase D,493aa) | g.19:33878884T>C,c.1256A>G,p.D419G |
| PEPD(NM_000285,peptidase D,493aa) | g.19:33878846C>T,c.1294G>A,p.A432T |
| PEPD(NM_000285,peptidase D,493aa) | g.19:33878837G>A,c.1303C>T,p.L435F |
| PEPD(NM_000285,peptidase D,493aa) | g.19:33878347A>G,c.1385T>C,p.I462T |
| PENK(NM_001135690,proenkephalin,267aa) | g.8:57354420G>A,c.215C>T,p.S72F |
| PENK(NM_001135690,proenkephalin,267aa) | g.8:57354387G>T,c.248C>A,p.T83N |
| PENK(NM_001135690,proenkephalin,267aa) | g.8:57354265C>G,c.370G>C,p.E124Q |
| PENK(NM_001135690,proenkephalin,267aa) | g.8:57354129C>T,c.506G>A,p.R169H |
| PEMT(NM_001267552,phosphatidylethanolamine N-methyltransferase,232aa) | g.17:17494861T>C,c.80A>G,p.N27S |
| PEMT(NM_001267552,phosphatidylethanolamine N-methyltransferase,232aa) | g.17:17480322G>C,c.116C>G,p.T39S |
| PEMT(NM_001267552,phosphatidylethanolamine N-methyltransferase,232aa) | g.17:17425684C>T,c.230G>A,p.R77H |
| PEMT(NM_001267552,phosphatidylethanolamine N-methyltransferase,232aa) | g.17:17425631C>T,c.283G>A,p.V95I |
| PEMT(NM_001267552,phosphatidylethanolamine N-methyltransferase,232aa) | g.17:17409560C>T,c.665G>A,p.S222N |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4586159C>T,c.659G>A,p.R220Q |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4579700C>T,c.955G>A,p.A319T |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4576275T>C,c.2161A>G,p.M721V |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4576221T>C,c.2215A>G,p.M739V |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575740A>G,c.2696T>C,p.V899A |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575533_4575535del,c.2901_2903del,p.967_968del |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575437_4575439del,c.2997_2999del,p.999_1000del |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575433C>A,c.3003G>T,p.E1001D |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575323_4575334del,c.3102_3113del,p.1034_1038del |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575152G>A,c.3284C>T,p.A1095V |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4575000C>A,c.3436G>T,p.A1146S |
| PELP1(NM_014389,proline, glutamate and leucine rich protein 1,1180aa) | g.17:4574751T>A,c.3526A>T,p.T1176S |
| PELO(NM_015946,pelota homolog (Drosophila),385aa) | g.5:52097636T>C,c.1120T>C,p.S374P |
| PELO(NM_015946,pelota homolog (Drosophila),385aa) | g.5:52096944A>G,c.716A>G,p.K239R |
| PELO(NM_015946,pelota homolog (Drosophila),385aa) | g.5:52096889C>A,c.661C>A,p.L221M |