| 基因名 | 突变 |
|---|---|
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74929170T>C,c.2399T>C,p.I800T |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74905205C>T,c.2252C>T,p.T751M |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74905181G>A,c.2228G>A,p.R743H |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74836076G>C,c.2114G>C,p.S705T |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74835152A>G,c.1892A>G,p.N631S |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74819772del,c.1478del,p.493fs |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74819697G>A,c.1403G>A,p.R468H |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74808631C>T,c.1130C>T,p.P377L |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74797201T>C,c.854T>C,p.L285S |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74797171A>G,c.824A>G,p.N275S |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74797140G>C,c.793G>C,p.D265H |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74716413C>A,c.635C>A,p.T212K |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74716383T>C,c.605T>C,p.M202T |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74715186G>T,c.535G>T,p.E179X |
| FPGT-TNNI3K(NM_001112808,FPGT-TNNI3K readthrough,949aa) | g.1:74663943G>C,c.20G>C,p.G7A |
| FPGT(NM_003838,fucose-1-phosphate guanylyltransferase,607aa) | g.1:74671283A>G,c.1591A>G,p.T531A |
| FPGT(NM_003838,fucose-1-phosphate guanylyltransferase,607aa) | g.1:74671074C>T,c.1382C>T,p.P461L |
| FPGT(NM_003838,fucose-1-phosphate guanylyltransferase,607aa) | g.1:74670740A>G,c.1048A>G,p.I350V |
| FPGT(NM_003838,fucose-1-phosphate guanylyltransferase,607aa) | g.1:74670566A>G,c.874A>G,p.K292E |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130575869G>A,c.1750G>A,p.A584T |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130575849T>C,c.1730T>C,p.V577A |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130575791C>T,c.1672C>T,p.R558C |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130575585C>T,c.1466C>T,p.A489V |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130575515C>T,c.1396C>T,p.R466C |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130572046G>A,c.1144G>A,p.A382T |
| FPGS(NM_004957,folylpolyglutamate synthase,587aa) | g.9:130565267A>G,c.64A>G,p.I22V |
| FOXS1(NM_004118,forkhead box S1,330aa) | g.20:30433324C>T,c.22G>A,p.G8R |
| FOXS1(NM_004118,forkhead box S1,330aa) | g.20:30433315C>T,c.31G>A,p.A11T |