| 基因名 | 突变 |
|---|---|
| WSCD1(NM_015253,WSC domain containing 1,575aa) | g.17:5984168G>A,c.190G>A,p.V64M |
| WSCD1(NM_015253,WSC domain containing 1,575aa) | g.17:5983997C>T,c.19C>T,p.R7X |
| WSCD1(NM_015253,WSC domain containing 1,575aa) | g.17:5983988C>T,c.10C>T,p.P4S |
| WSB2(NM_018639,WD repeat and SOCS box containing 2,404aa) | g.12:118481007C>T,c.358G>A,p.D120N |
| WSB2(NM_018639,WD repeat and SOCS box containing 2,404aa) | g.12:118472867T>A,c.976A>T,p.T326S |
| WSB1(NM_015626,WD repeat and SOCS box containing 1,421aa) | g.17:25636131C>G,c.717C>G,p.F239L |
| WSB1(NM_015626,WD repeat and SOCS box containing 1,421aa) | g.17:25630556C>T,c.373C>T,p.R125C |
| WSB1(NM_015626,WD repeat and SOCS box containing 1,421aa) | g.17:25628820T>C,c.47T>C,p.L16S |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:31030535C>T,c.4216C>T,p.R1406X |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:31024654T>C,c.4099T>C,p.C1367R |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:31014957G>T,c.3893G>T,p.G1298V |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:31012237C>G,c.3785C>G,p.T1262R |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:31012230G>A,c.3778G>A,p.A1260T |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30999280G>T,c.3222G>T,p.L1074F |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30999079A>T,c.3101A>T,p.Y1034F |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30999036C>T,c.3058C>T,p.R1020C |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30998961G>A,c.2983G>A,p.A995T |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30977810C>T,c.2500C>T,p.R834C |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30973938C>T,c.2342C>T,p.T781I |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30969170A>G,c.2128A>G,p.I710V |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30969150C>G,c.2108C>G,p.T703S |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30949398C>G,c.1882C>G,p.L628V |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30948045A>G,c.1717A>G,p.T573A |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30945390A>T,c.1530A>T,p.E510D |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30942713C>T,c.1382C>T,p.T461M |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30938704G>A,c.1161G>A,p.M387I |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30938692G>T,c.1149G>T,p.L383F |
| WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) | g.8:30938648C>T,c.1105C>T,p.R369X |