| 基因名 | 突变 |
|---|---|
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100152253A>G,c.998T>C,p.V333A |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100148176A>G,c.1382T>C,p.M461T |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100148126C>T,c.1432G>A,p.A478T |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100148117C>T,c.1441G>A,p.D481N |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100147017C>A,c.1495G>T,p.V499F |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100144782C>T,c.1597G>A,p.A533T |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100143599G>A,c.1702C>T,p.R568X |
| PYROXD2(NM_032709,pyridine nucleotide-disulphide oxidoreductase domain 2,581aa) | g.10:100143598C>T,c.1703G>A,p.R568Q |
| PYROXD1(NM_024854,pyridine nucleotide-disulphide oxidoreductase domain 1,500aa) | g.12:21621603A>G,c.1418A>G,p.N473S |
| PYROXD1(NM_024854,pyridine nucleotide-disulphide oxidoreductase domain 1,500aa) | g.12:21615735A>G,c.1055A>G,p.D352G |
| PYROXD1(NM_024854,pyridine nucleotide-disulphide oxidoreductase domain 1,500aa) | g.12:21608185A>G,c.608A>G,p.E203G |
| PYROXD1(NM_024854,pyridine nucleotide-disulphide oxidoreductase domain 1,500aa) | g.12:21602576G>A,c.365G>A,p.C122Y |
| PYROXD1(NM_024854,pyridine nucleotide-disulphide oxidoreductase domain 1,500aa) | g.12:21593321C>T,c.104C>T,p.S35L |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158943539C>T,c.1462C>T,p.H488Y |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158943483G>A,c.1406G>A,p.R469K |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158943468C>T,c.1391C>T,p.S464L |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158913599C>T,c.1022C>T,p.T341M |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158911800G>A,c.613G>A,p.A205T |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158908991C>G,c.533C>G,p.P178R |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158908886C>T,c.428C>T,p.S143F |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158908210C>G,c.289C>G,p.P97A |
| PYHIN1(NM_152501,pyrin and HIN domain family, member 1,492aa) | g.1:158906777A>G,c.77A>G,p.K26R |
| PYGO2(NM_138300,pygopus homolog 2 (Drosophila),406aa) | g.1:154932072G>T,c.404C>A,p.P135H |
| PYGO2(NM_138300,pygopus homolog 2 (Drosophila),406aa) | g.1:154931757T>A,c.719A>T,p.N240I |
| PYGO1(NM_015617,pygopus homolog 1 (Drosophila),419aa) | g.15:55839224G>A,c.257C>T,p.S86L |
| PYGO1(NM_015617,pygopus homolog 1 (Drosophila),419aa) | g.15:55839146G>A,c.335C>T,p.P112L |
| PYGO1(NM_015617,pygopus homolog 1 (Drosophila),419aa) | g.15:55838585G>T,c.896C>A,p.P299H |
| PYGO1(NM_015617,pygopus homolog 1 (Drosophila),419aa) | g.15:55838573G>A,c.908C>T,p.T303M |