| 基因名 | 突变 |
|---|---|
| LRRIQ3(NM_001105659,leucine-rich repeats and IQ motif containing 3,624aa) | g.1:74506942G>A,c.1673C>T,p.A558V |
| LRRIQ3(NM_001105659,leucine-rich repeats and IQ motif containing 3,624aa) | g.1:74506926C>A,c.1689G>T,p.K563N |
| LRRIQ3(NM_001105659,leucine-rich repeats and IQ motif containing 3,624aa) | g.1:74492543A>G,c.1829T>C,p.V610A |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85638646del,c.5096del,p.1699fs |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85623412C>G,c.4940C>G,p.S1647C |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85554402C>T,c.4732C>T,p.R1578C |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85531684T>G,c.4266T>G,p.I1422M |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85521656C>T,c.4054C>T,p.R1352C |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85521611A>G,c.4009A>G,p.M1337V |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85518195G>A,c.3905G>A,p.S1302N |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85517969G>A,c.3679G>A,p.E1227K |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85517925G>A,c.3635G>A,p.R1212Q |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85517915A>C,c.3625A>C,p.T1209P |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85515519G>A,c.3422G>A,p.G1141D |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85497795G>A,c.3223G>A,p.V1075I |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85497794C>G,c.3222C>G,p.I1074M |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85466723G>A,c.2734G>A,p.A912T |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85460533A>G,c.2552A>G,p.H851R |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85459151A>G,c.2503A>G,p.S835G |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85459079C>A,c.2431C>A,p.L811I |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85450909G>A,c.2338G>A,p.A780T |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85450725T>G,c.2154T>G,p.N718K |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85450426G>A,c.1855G>A,p.E619K |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85450243G>A,c.1672G>A,p.G558R |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85449970G>T,c.1399G>T,p.E467X |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85449874G>A,c.1303G>A,p.E435K |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85449781G>A,c.1210G>A,p.G404R |
| LRRIQ1(NM_001079910,leucine-rich repeats and IQ motif containing 1,1722aa) | g.12:85449689A>C,c.1118A>C,p.Q373P |