| 基因名 | 突变 |
|---|---|
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65417554C>T,c.1693C>T,p.P565S |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65409750A>G,c.1195A>G,p.I399V |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65393494G>C,c.638G>C,p.G213A |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65393493G>T,c.637G>T,p.G213C |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65390555C>T,c.305C>T,p.T102M |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65382685T>C,c.116T>C,p.V39A |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93844989C>T,c.3409C>T,p.L1137F |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93844205C>T,c.3182C>T,p.T1061I |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93844108C>T,c.3085C>T,p.P1029S |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93844087G>A,c.3064G>A,p.E1022K |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93839219A>C,c.2968A>C,p.N990H |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93837771C>A,c.2760C>A,p.D920E |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93837734G>A,c.2723G>A,p.R908Q |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93834393G>A,c.2467G>A,p.V823I |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93826690G>A,c.2318G>A,p.R773H |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93822102C>G,c.2262C>G,p.F754L |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93822022C>T,c.2182C>T,p.R728W |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93819254T>A,c.1979T>A,p.V660D |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93815678A>G,c.1811A>G,p.H604R |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93808528G>A,c.1693G>A,p.V565I |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93803617C>T,c.1141C>T,p.R381C |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93800865G>A,c.1012G>A,p.E338K |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93800820G>A,c.967G>A,p.V323I |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93797619A>G,c.751A>G,p.N251D |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93797581G>C,c.713G>C,p.S238T |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93779075A>T,c.407A>T,p.D136V |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93778909C>T,c.241C>T,p.R81C |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93754674T>C,c.140T>C,p.V47A |