| 基因名 | 突变 |
|---|---|
| PKMYT1(NM_182687,protein kinase, membrane associated tyrosine/threonine 1,480aa) | g.16:3025455C>T,c.737G>A,p.R246H |
| PKMYT1(NM_182687,protein kinase, membrane associated tyrosine/threonine 1,480aa) | g.16:3024365_3024366insG,c.1032_1033insC,p.344fs |
| PKMYT1(NM_182687,protein kinase, membrane associated tyrosine/threonine 1,480aa) | g.16:3024281C>T,c.1117G>A,p.A373T |
| PKMYT1(NM_182687,protein kinase, membrane associated tyrosine/threonine 1,480aa) | g.16:3024280G>A,c.1118C>T,p.A373V |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72523320C>T,c.9G>A,p.W3X |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72523315G>C,c.14C>G,p.S5X |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72513612T>A,c.106A>T,p.T36S |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72509823A>G,c.395T>C,p.V132A |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72502115T>C,c.686A>G,p.N229S |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72501157G>A,c.863C>T,p.A288V |
| PKM(NM_001206796,pyruvate kinase, muscle,605aa) | g.15:72499509G>A,c.1168C>T,p.R390W |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155270050C>T,c.122G>A,p.R41Q |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155269925C>T,c.247G>A,p.V83M |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155264963A>G,c.638T>C,p.V213A |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155264433C>A,c.805G>T,p.V269F |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155264331G>C,c.907C>G,p.P303A |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155263282C>T,c.1216G>A,p.G406R |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155263025A>G,c.1379T>C,p.V460A |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155262968C>T,c.1436G>A,p.R479H |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155261709G>A,c.1456C>T,p.R486W |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155261697G>A,c.1468C>T,p.R490W |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155261649C>T,c.1516G>A,p.V506I |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155261613G>A,c.1552C>T,p.R518C |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155261571G>A,c.1594C>T,p.R532W |
| PKLR(NM_000298,pyruvate kinase, liver and RBC,574aa) | g.1:155260382C>T,c.1706G>A,p.R569Q |
| PKIG(NM_001281444,protein kinase (cAMP-dependent, catalytic) inhibitor gamma,76aa) | g.20:43243300G>C,c.103G>C,p.V35L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51947313T>C,c.158A>G,p.N53S |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51944763C>T,c.325G>A,p.A109T |