| 基因名 | 突变 |
|---|---|
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93754658C>T,c.124C>T,p.P42S |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93754643T>A,c.109T>A,p.Y37N |
| HEPHL1(NM_001098672,hephaestin-like 1,1159aa) | g.11:93754578T>C,c.44T>C,p.F15S |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124793715C>T,c.619G>A,p.V207M |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124793682T>C,c.652A>G,p.M218V |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124793235C>T,c.803+1G>A,p.268Donor |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124792667T>C,c.851A>G,p.Q284R |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124792656G>A,c.862C>T,p.R288C |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124791314T>C,c.971A>G,p.N324S |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124791158G>A,c.1127C>T,p.S376L |
| HEPACAM(NM_152722,hepatic and glial cell adhesion molecule,416aa) | g.11:124791119C>T,c.1166G>A,p.R389H |
| HEPACAM2(NM_198151,HEPACAM family member 2,450aa) | g.7:92844819G>A,c.574C>T,p.L192F |
| HEPACAM2(NM_198151,HEPACAM family member 2,450aa) | g.7:92825188C>T,c.1192G>A,p.G398R |
| HEPACAM2(NM_198151,HEPACAM family member 2,450aa) | g.7:92821670T>G,c.1246A>C,p.S416R |
| HEPACAM2(NM_198151,HEPACAM family member 2,450aa) | g.7:92821670T>C,c.1246A>G,p.S416G |
| HENMT1(NM_144584,HEN1 methyltransferase homolog 1 (Arabidopsis),393aa) | g.1:109200189C>T,c.34G>A,p.V12I |
| HENMT1(NM_144584,HEN1 methyltransferase homolog 1 (Arabidopsis),393aa) | g.1:109200108C>T,c.115G>A,p.V39I |
| HENMT1(NM_144584,HEN1 methyltransferase homolog 1 (Arabidopsis),393aa) | g.1:109192990C>T,c.599G>A,p.R200H |
| HENMT1(NM_144584,HEN1 methyltransferase homolog 1 (Arabidopsis),393aa) | g.1:109192901G>A,c.688C>T,p.R230W |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50617351C>T,c.847C>T,p.R283W |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50617295T>C,c.791T>C,p.L264P |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50616353C>T,c.766C>T,p.R256C |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50614990T>G,c.600T>G,p.H200Q |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50614965G>A,c.575G>A,p.R192Q |
| HEMK1(NM_016173,HemK methyltransferase family member 1,338aa) | g.3:50609625C>T,c.400C>T,p.R134W |
| HEMGN(NM_197978,hemogen,484aa) | g.9:100693387_100693389del,c.288_290del,p.96_97del |
| HEMGN(NM_197978,hemogen,484aa) | g.9:100693345G>C,c.332C>G,p.P111R |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65214779A>G,c.142T>C,p.C48R |