| 基因名 | 突变 |
|---|---|
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84348761A>T,c.2631T>A,p.D877E |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84328632C>T,c.3280G>A,p.V1094M |
| HELLS(NM_018063,helicase, lymphoid-specific,838aa) | g.10:96353289A>G,c.2005A>G,p.I669V |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66731878C>T,c.3260C>T,p.T1087I |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66725342A>G,c.3079A>G,p.T1027A |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66725202C>T,c.2939C>T,p.T980I |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66725160C>T,c.2897C>T,p.P966L |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66725138G>A,c.2875G>A,p.G959S |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66725100G>A,c.2837G>A,p.R946H |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66724940G>A,c.2677G>A,p.E893K |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66717924C>G,c.2459C>G,p.A820G |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66715790C>T,c.2218C>T,p.Q740X |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66712428C>T,c.2011C>T,p.R671C |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66709159A>G,c.1996A>G,p.T666A |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66709105A>G,c.1942A>G,p.I648V |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66707928A>G,c.1843A>G,p.K615E |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66704225A>G,c.1517A>G,p.D506G |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66704168G>A,c.1460G>A,p.R487H |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66703975G>A,c.1267G>A,p.D423N |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66703507C>T,c.799C>T,p.L267F |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66698895T>C,c.572T>C,p.L191P |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66698837G>A,c.514G>A,p.E172K |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66698810A>G,c.487A>G,p.R163G |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66696547G>A,c.164G>A,p.G55D |
| HELB(NM_033647,helicase (DNA) B,1087aa) | g.12:66696400C>T,c.17C>T,p.P6L |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124774643C>T,c.92G>A,p.R31Q |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124774432T>G,c.303A>C,p.R101S |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124746049A>G,c.913T>C,p.S305P |