| 基因名 | 突变 |
|---|---|
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65214718del,c.203del,p.68fs |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65212042C>T,c.220G>A,p.V74M |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65185800T>C,c.769A>G,p.I257V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65163644T>C,c.1699A>G,p.I567V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65163599G>A,c.1744C>T,p.R582W |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65132099T>C,c.3169A>G,p.I1057V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65120111G>C,c.3407C>G,p.T1136S |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65105513T>C,c.4208A>G,p.Q1403R |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65105363T>G,c.4358A>C,p.Q1453P |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65105319T>C,c.4402A>G,p.I1468V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65104743G>A,c.4589C>T,p.A1530V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65104717G>C,c.4615C>G,p.H1539D |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65103586G>A,c.4940C>T,p.P1647L |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65103356T>C,c.5170A>G,p.I1724V |
| HELZ(NM_014877,helicase with zinc finger,1942aa) | g.17:65074534G>A,c.5663C>T,p.A1888V |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62203663C>T,c.76G>A,p.D26N |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62203647G>A,c.92C>T,p.P31L |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62203554G>A,c.185C>T,p.S62L |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62203546C>T,c.193G>A,p.A65T |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62203504G>A,c.235C>T,p.R79C |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62202213A>G,c.287T>C,p.L96P |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62202144G>A,c.356C>T,p.T119M |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200871G>A,c.718C>T,p.R240C |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200762C>T,c.827G>A,p.R276H |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200738G>A,c.851C>T,p.A284V |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200576G>A,c.1013C>T,p.S338L |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200246A>G,c.1195T>C,p.S399P |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62200017G>A,c.1424C>T,p.P475L |