| 基因名 | 突变 |
|---|---|
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90270492C>G,c.985C>G,p.Q329E |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90260145T>A,c.760T>A,p.S254T |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90255284A>G,c.589A>G,p.I197V |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90248844G>A,c.556G>A,p.E186K |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90245215G>A,c.238G>A,p.A80T |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90245205A>C,c.228A>C,p.E76D |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90245174T>A,c.197T>A,p.L66H |
| WDR93(NM_020212,WD repeat domain 93,686aa) | g.15:90245033G>A,c.56G>A,p.R19Q |
| WDR92(NM_138458,WD repeat domain 92,357aa) | g.2:68364491G>C,c.708C>G,p.F236L |
| WDR92(NM_138458,WD repeat domain 92,357aa) | g.2:68364478T>C,c.721A>G,p.M241V |
| WDR92(NM_138458,WD repeat domain 92,357aa) | g.2:68361859C>T,c.841G>A,p.A281T |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134896167C>A,c.88G>T,p.A30S |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134893561C>T,c.493G>A,p.V165I |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134890698C>T,c.707G>A,p.R236H |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134889141G>A,c.770C>T,p.P257L |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134889072T>C,c.839A>G,p.Q280R |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134882884G>A,c.911C>T,p.P304L |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134879814C>T,c.1267G>A,p.V423I |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134873190C>T,c.1876G>A,p.G626R |
| WDR91(NM_014149,WD repeat domain 91,747aa) | g.7:134870998C>T,c.2149G>A,p.V717M |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:716912A>T,c.5012A>T,p.E1671V |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:716512C>T,c.4798C>T,p.R1600W |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:716273T>C,c.4663T>C,p.C1555R |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:716089C>T,c.4574C>T,p.P1525L |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:715990G>A,c.4475G>A,p.R1492H |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:712803G>A,c.4270G>A,p.E1424K |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:712726G>A,c.4193G>A,p.S1398N |
| WDR90(NM_145294,WD repeat domain 90,1748aa) | g.16:712277G>A,c.4091G>A,p.R1364H |