| 基因名 | 突变 |
|---|---|
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57180576_57180577insGGAGCGGAGGGAGCGGAG,c.908_909insGGAGCGGAGGGAGCGGAG,p.303ins6aa |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57180576_57180577insGGAGCGGAG,c.908_909insGGAGCGGAG,p.303ins3aa |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57180563G>C,c.895G>C,p.G299R |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57180473C>A,c.805C>A,p.L269I |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57180407C>G,c.739C>G,p.R247G |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57176832T>C,c.286T>C,p.S96P |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57173854G>A,c.274G>A,p.A92T |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57173842G>A,c.262G>A,p.V88I |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57173791G>A,c.211G>A,p.E71K |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57164441G>A,c.46G>A,p.G16R |
| KIAA1211(NM_020722,KIAA1211,1233aa) | g.4:57164405C>T,c.10C>T,p.R4W |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99449387C>T,c.313G>A,p.A105T |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99448834C>T,c.517G>A,p.V173M |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99443583C>T,c.590G>A,p.R197Q |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99443571T>C,c.602A>G,p.N201S |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439792G>C,c.944C>G,p.S315C |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439603G>A,c.1133C>T,p.A378V |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439597G>A,c.1139C>T,p.P380L |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439512C>G,c.1224G>C,p.E408D |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439408G>A,c.1328C>T,p.P443L |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99439331C>T,c.1405G>A,p.E469K |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99438624C>G,c.2112G>C,p.K704N |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99438521T>C,c.2215A>G,p.T739A |
| KIAA1211L(NM_207362,KIAA1211-like,962aa) | g.2:99438487G>A,c.2249C>T,p.A750V |
| KIAA1210(NM_020721,KIAA1210,1709aa) | g.X:118284520C>A,c.23G>T,p.R8L |
| KIAA1210(NM_020721,KIAA1210,1709aa) | g.X:118281538C>A,c.308G>T,p.G103V |
| KIAA1210(NM_020721,KIAA1210,1709aa) | g.X:118250601G>T,c.508C>A,p.L170I |
| KIAA1210(NM_020721,KIAA1210,1709aa) | g.X:118242415G>A,c.797C>T,p.T266I |