| 基因名 | 突变 |
|---|---|
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67768036G>A,c.2679G>A,p.M893I |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67757607C>T,c.2648C>T,p.T883I |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67757580G>A,c.2621G>A,p.R874H |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67713781C>T,c.2371C>T,p.Q791X |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67709344C>T,c.2173C>T,p.R725W |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67692567A>G,c.2021A>G,p.Y674C |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67692566T>C,c.2020T>C,p.Y674H |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67687719A>G,c.1723A>G,p.I575V |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67687690A>T,c.1694A>T,p.K565I |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67664971C>T,c.1276C>T,p.H426Y |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67664963G>A,c.1268G>A,p.R423H |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67629359C>T,c.434C>T,p.T145M |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67555506C>T,c.221C>T,p.T74M |
| IQCH(NM_001031715,IQ motif containing H,1027aa) | g.15:67555487G>C,c.202G>C,p.V68L |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197670834C>T,c.97G>A,p.E33K |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197665599G>T,c.335C>A,p.A112D |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197659169A>C,c.520T>G,p.F174V |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197659160C>G,c.529G>C,p.D177H |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197639590G>A,c.919C>T,p.R307W |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197639571T>G,c.938A>C,p.E313A |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197619527A>G,c.1067T>C,p.L356S |
| IQCG(NM_032263,IQ motif containing G,443aa) | g.3:197616531T>C,c.1252A>G,p.M418V |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812953G>A,c.10C>T,p.R4W |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812952C>T,c.11G>A,p.R4Q |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812878C>T,c.85G>A,p.E29K |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812865C>T,c.98G>A,p.R33H |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812865C>A,c.98G>T,p.R33L |
| IQCF6(NM_001143833,IQ motif containing F6,107aa) | g.3:51812791C>T,c.172G>A,p.A58T |