| 基因名 | 突变 |
|---|---|
| PI15(NM_015886,peptidase inhibitor 15,258aa) | g.8:75737557C>T,c.73C>T,p.L25F |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177658460T>A,c.1A>T,p.M1L |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177658412C>T,c.49G>A,p.A17T |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177657018G>T,c.138C>A,p.D46E |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177657017T>C,c.139A>G,p.N47D |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177652392T>C,c.254A>G,p.H85R |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177651549G>A,c.395C>T,p.T132I |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177642317C>T,c.919G>A,p.G307R |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177640034T>C,c.1120A>G,p.M374V |
| PHYKPL(NM_001278346,5-phosphohydroxy-L-lysine phospho-lyase,409aa) | g.5:177638965T>A,c.1187A>T,p.E396V |
| PHYH(NM_001037537,phytanoyl-CoA 2-hydroxylase,238aa) | g.10:13330389G>C,c.349C>G,p.L117V |
| PHYH(NM_001037537,phytanoyl-CoA 2-hydroxylase,238aa) | g.10:13325784C>T,c.434G>A,p.R145Q |
| PHYH(NM_001037537,phytanoyl-CoA 2-hydroxylase,238aa) | g.10:13325694C>T,c.524G>A,p.R175Q |
| PHYH(NM_001037537,phytanoyl-CoA 2-hydroxylase,238aa) | g.10:13320338C>T,c.680G>A,p.R227Q |
| PHYHIPL(NM_032439,phytanoyl-CoA 2-hydroxylase interacting protein-like,376aa) | g.10:61005244G>C,c.1024G>C,p.V342L |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131703787C>T,c.767C>T,p.S256L |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131702702T>C,c.512T>C,p.L171P |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131702696G>A,c.506G>A,p.R169Q |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131702695C>T,c.505C>T,p.R169W |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131702689C>G,c.499C>G,p.L167V |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131700051G>A,c.451G>A,p.G151S |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131698784T>C,c.372+2T>C,p.124Donor |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131696100C>T,c.232C>T,p.R78X |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131689468G>A,c.185G>A,p.R62Q |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131684610G>C,c.8G>C,p.C3S |
| PHYHD1(NM_001100876,phytanoyl-CoA dioxygenase domain containing 1,291aa) | g.9:131684560A>G,c.-41-2A>G,p.5'UTRAcceptor |
| PHTF2(NM_001127358,putative homeodomain transcription factor 2,747aa) | g.7:77552058G>A,c.968G>A,p.R323K |
| PHTF2(NM_001127358,putative homeodomain transcription factor 2,747aa) | g.7:77539659A>G,c.595A>G,p.T199A |