| 基因名 | 突变 |
|---|---|
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131539788G>A,c.1138C>T,p.R380W |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131534622C>A,c.1255G>T,p.A419S |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131530664G>A,c.1492C>T,p.R498X |
| P4HA2(NM_004199,prolyl 4-hydroxylase, alpha polypeptide II,535aa) | g.5:131528750G>A,c.1561C>T,p.R521X |
| P4HA1(NM_001142595,prolyl 4-hydroxylase, alpha polypeptide I,534aa) | g.10:74831918C>T,c.194G>A,p.R65Q |
| P4HA1(NM_001142595,prolyl 4-hydroxylase, alpha polypeptide I,534aa) | g.10:74804751C>A,c.1136G>T,p.R379I |
| P4HA1(NM_001142595,prolyl 4-hydroxylase, alpha polypeptide I,534aa) | g.10:74774033A>T,c.1317T>A,p.D439E |
| P4HA1(NM_001142595,prolyl 4-hydroxylase, alpha polypeptide I,534aa) | g.10:74769603C>T,c.1496G>A,p.R499Q |
| P2RY6(NM_176798,pyrimidinergic receptor P2Y, G-protein coupled, 6,328aa) | g.11:73008502T>A,c.939T>A,p.H313Q |
| P2RY6(NM_176798,pyrimidinergic receptor P2Y, G-protein coupled, 6,328aa) | g.11:73008446G>A,c.883G>A,p.V295M |
| P2RY6(NM_176798,pyrimidinergic receptor P2Y, G-protein coupled, 6,328aa) | g.11:73008366C>T,c.803C>T,p.T268M |
| P2RY6(NM_176798,pyrimidinergic receptor P2Y, G-protein coupled, 6,328aa) | g.11:73007862G>A,c.299G>A,p.R100H |
| P2RY6(NM_176798,pyrimidinergic receptor P2Y, G-protein coupled, 6,328aa) | g.11:73007849G>A,c.286G>A,p.D96N |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69479435G>A,c.40C>T,p.L14F |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69479172C>T,c.303G>A,p.W101X |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478973C>T,c.502G>A,p.V168M |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478942T>G,c.533A>C,p.N178T |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478775A>C,c.700T>G,p.S234A |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478736T>C,c.739A>G,p.I247V |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478626A>C,c.849T>G,p.I283M |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478567G>A,c.908C>T,p.P303L |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478522C>T,c.953G>A,p.R318H |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478432C>T,c.1043G>A,p.W348X |
| P2RY4(NM_002565,pyrimidinergic receptor P2Y, G-protein coupled, 4,365aa) | g.X:69478421G>T,c.1054C>A,p.P352T |
| P2RY2(NM_176072,purinergic receptor P2Y, G-protein coupled, 2,377aa) | g.11:72946331G>A,c.1127G>A,p.R376Q |
| P2RY2(NM_176072,purinergic receptor P2Y, G-protein coupled, 2,377aa) | g.11:72946279T>C,c.1075T>C,p.S359P |
| P2RY2(NM_176072,purinergic receptor P2Y, G-protein coupled, 2,377aa) | g.11:72946251_72946253del,c.1047_1049del,p.349_350del |
| P2RY2(NM_176072,purinergic receptor P2Y, G-protein coupled, 2,377aa) | g.11:72946220G>A,c.1016G>A,p.R339H |