| 基因名 | 突变 |
|---|---|
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3449915A>G,c.1697A>G,p.K566R |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3449863G>A,c.1645G>A,p.G549S |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3449717G>A,c.1591G>A,p.A531T |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3449652G>A,c.1526G>A,p.R509H |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3447838G>A,c.1172G>A,p.R391H |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3447063G>A,c.1088G>A,p.R363H |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3447062C>T,c.1087C>T,p.R363C |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446997C>T,c.1022C>T,p.P341L |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446140G>A,c.701G>A,p.R234Q |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446132C>G,c.693C>G,p.F231L |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446091G>T,c.652G>T,p.A218S |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446079G>T,c.640G>T,p.G214C |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3446058C>T,c.619C>T,p.R207C |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3445864T>A,c.574T>A,p.F192I |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3445858C>T,c.568C>T,p.R190W |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3445802A>G,c.512A>G,p.N171S |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3444616C>G,c.275C>G,p.S92W |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3444592C>G,c.251C>G,p.P84R |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3444510A>G,c.169A>G,p.T57A |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3444477G>C,c.136G>C,p.E46Q |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3444460A>T,c.119A>T,p.N40I |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3443819C>T,c.91C>T,p.R31W |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3443814T>C,c.86T>C,p.L29P |
| HGFAC(NM_001528,HGF activator,655aa) | g.4:3443769C>T,c.41C>T,p.P14L |
| HGD(NM_000187,homogentisate 1,2-dioxygenase,445aa) | g.3:120389335T>A,c.221A>T,p.E74V |
| HGD(NM_000187,homogentisate 1,2-dioxygenase,445aa) | g.3:120389316T>A,c.240A>T,p.Q80H |
| HGD(NM_000187,homogentisate 1,2-dioxygenase,445aa) | g.3:120357389G>A,c.919C>T,p.R307C |
| HGD(NM_000187,homogentisate 1,2-dioxygenase,445aa) | g.3:120357385G>C,c.923C>G,p.P308R |