| 基因名 | 突变 |
|---|---|
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62192043C>T,c.7289G>A,p.G2430D |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62191974G>A,c.7358C>T,p.P2453L |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62191575G>A,c.7606C>T,p.R2536W |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62191548C>T,c.7633G>A,p.V2545M |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62191410T>C,c.7696A>G,p.T2566A |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62191383G>A,c.7723C>T,p.R2575W |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190706G>A,c.7843C>T,p.R2615C |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190688G>A,c.7861C>T,p.R2621C |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190687C>T,c.7862G>A,p.R2621H |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190631G>A,c.7918C>T,p.R2640C |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190630C>T,c.7919G>A,p.R2640H |
| HELZ2(NM_001037335,helicase with zinc finger 2, transcriptional coactivator,2649aa) | g.20:62190628C>T,c.7921G>A,p.V2641I |
| HELT(NM_001029887,helt bHLH transcription factor,327aa) | g.4:185941708T>A,c.766T>A,p.S256T |
| HELT(NM_001029887,helt bHLH transcription factor,327aa) | g.4:185940952C>G,c.439C>G,p.L147V |
| HELT(NM_001029887,helt bHLH transcription factor,327aa) | g.4:185940883C>G,c.370C>G,p.P124A |
| HELT(NM_001029887,helt bHLH transcription factor,327aa) | g.4:185940125C>A,c.43C>A,p.P15T |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84376800T>C,c.47A>G,p.K16R |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84376794T>C,c.53A>G,p.N18S |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84376743A>T,c.104T>A,p.V35E |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84374899G>A,c.497C>T,p.T166I |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84374734C>T,c.662G>A,p.R221K |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84374692A>G,c.704T>C,p.L235P |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84374480C>T,c.916G>A,p.V306I |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84369985C>T,c.1142G>A,p.R381Q |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84364728T>C,c.1505A>G,p.N502S |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84362553C>T,c.1567G>A,p.E523K |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84361071G>A,c.1753C>T,p.P585S |
| HELQ(NM_133636,helicase, POLQ-like,1101aa) | g.4:84358158C>T,c.1901G>A,p.R634H |