| 基因名 | 突变 |
|---|---|
| HIATL1(NM_032558,hippocampus abundant transcript-like 1,506aa) | g.9:97177456G>A,c.125G>A,p.R42Q |
| HIAT1(NM_033055,hippocampus abundant transcript 1,490aa) | g.1:100546162A>G,c.1213A>G,p.I405V |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108096105C>T,c.1225C>T,p.P409S |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108081277C>A,c.1092C>A,p.S364R |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108081217C>A,c.1032C>A,p.N344K |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108076875G>A,c.870G>A,p.W290X |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108072387G>A,c.178G>A,p.V60I |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108072329T>G,c.120T>G,p.I40M |
| HHLA2(NM_007072,HERV-H LTR-associating 2,414aa) | g.3:108072298T>C,c.89T>C,p.I30T |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133112324G>A,c.197C>T,p.T66M |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133111201C>T,c.208G>A,p.A70T |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133111140C>G,c.269G>C,p.R90T |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133108029G>T,c.285C>A,p.S95R |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133092138G>A,c.752C>T,p.P251L |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133092122C>G,c.768G>C,p.Q256H |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133092106A>G,c.784T>C,p.S262P |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133090137T>G,c.1007A>C,p.Q336P |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133090092C>A,c.1052G>T,p.R351L |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133089975A>G,c.1169T>C,p.L390S |
| HHLA1(NM_001145095,HERV-H LTR-associating 1,531aa) | g.8:133078133T>A,c.1552A>T,p.T518S |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145659101A>G,c.2095A>G,p.I699V |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145655922C>T,c.1790C>T,p.T597M |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145636524T>G,c.1620T>G,p.S540R |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145635481G>A,c.1528G>A,p.V510M |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145633203T>A,c.1403T>A,p.I468K |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145633113A>C,c.1313A>C,p.D438A |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145628330T>C,c.1075T>C,p.F359L |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145627827G>A,c.976G>A,p.V326I |