| 基因名 | 突变 |
|---|---|
| FAIM2(NM_012306,Fas apoptotic inhibitory molecule 2,316aa) | g.12:50291790G>A,c.295C>T,p.R99C |
| FAIM2(NM_012306,Fas apoptotic inhibitory molecule 2,316aa) | g.12:50291357T>C,c.325A>G,p.I109V |
| FAIM2(NM_012306,Fas apoptotic inhibitory molecule 2,316aa) | g.12:50283307G>C,c.608C>G,p.A203G |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80478498A>G,c.1207A>G,p.I403V |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80473418C>T,c.1097C>T,p.S366L |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80472526C>T,c.1021C>T,p.R341W |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80464552A>G,c.668A>G,p.E223G |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80460617G>A,c.565G>A,p.V189I |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80454614C>T,c.391C>T,p.R131W |
| FAH(NM_000137,fumarylacetoacetate hydrolase (fumarylacetoacetase),419aa) | g.15:80450501G>T,c.181G>T,p.V61F |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97757351C>G,c.93G>C,p.Q31H |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97757347G>A,c.97C>T,p.R33W |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97755998A>G,c.310T>C,p.W104R |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97755997C>T,c.311G>A,p.W104X |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97755924C>A,c.384G>T,p.K128N |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97751562C>T,c.559G>A,p.V187M |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97751457C>T,c.664G>A,p.V222M |
| FAHD2B(NM_199336,fumarylacetoacetate hydrolase domain containing 2B,314aa) | g.2:97749512T>C,c.925A>G,p.I309V |
| FAHD2A(NM_016044,fumarylacetoacetate hydrolase domain containing 2A,314aa) | g.2:96072724C>T,c.281C>T,p.S94L |
| FAHD2A(NM_016044,fumarylacetoacetate hydrolase domain containing 2A,314aa) | g.2:96072720C>T,c.277C>T,p.R93W |
| FAHD2A(NM_016044,fumarylacetoacetate hydrolase domain containing 2A,314aa) | g.2:96071460G>A,c.154G>A,p.V52I |
| FAHD2A(NM_016044,fumarylacetoacetate hydrolase domain containing 2A,314aa) | g.2:96071341T>C,c.35T>C,p.V12A |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877709G>A,c.479G>A,p.G160D |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877586G>A,c.356G>A,p.W119X |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877558G>A,c.328G>A,p.D110N |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877550A>G,c.320A>G,p.D107G |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877534G>T,c.304G>T,p.D102Y |
| FAHD1(NM_001018104,fumarylacetoacetate hydrolase domain containing 1,248aa) | g.16:1877529G>C,c.299G>C,p.C100S |