| 基因名 | 突变 |
|---|---|
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236718052T>A,c.5924A>T,p.D1975V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236717926T>C,c.6050A>G,p.E2017G |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236716994T>C,c.6124A>G,p.T2042A |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236716939G>C,c.6179C>G,p.S2060C |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236716934A>G,c.6184T>C,p.W2062R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236716888G>A,c.6230C>T,p.S2077L |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236714292T>A,c.6347-2A>T,p.2116Acceptor |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236714292_236714293insAA,c.6347-2insTT,p.2116Acceptorins |
| HDX(NM_001177479,highly divergent homeobox,690aa) | g.X:83723550C>T,c.1181G>A,p.R394Q |
| HDX(NM_001177479,highly divergent homeobox,690aa) | g.X:83723541A>G,c.1190T>C,p.F397S |
| HDX(NM_001177479,highly divergent homeobox,690aa) | g.X:83591879T>C,c.1670A>G,p.N557S |
| HDX(NM_001177479,highly divergent homeobox,690aa) | g.X:83581275C>T,c.1858G>A,p.E620K |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242204015T>C,c.82A>G,p.T28A |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242203916A>C,c.181T>G,p.S61A |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242203910C>A,c.187G>T,p.A63S |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242196098G>C,c.574C>G,p.P192A |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242195810T>C,c.662A>G,p.K221R |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242192848T>C,c.1253A>G,p.N418S |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242181924G>A,c.2120C>T,p.S707L |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242179509C>T,c.2198G>A,p.R733H |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242170175T>C,c.3473A>G,p.K1158R |
| HDLBP(NM_005336,high density lipoprotein binding protein,1268aa) | g.2:242169255C>T,c.3713G>A,p.S1238N |
| HDHD3(NM_031219,haloacid dehalogenase-like hydrolase domain containing 3,251aa) | g.9:116136473C>A,c.162G>T,p.R54S |
| HDHD3(NM_031219,haloacid dehalogenase-like hydrolase domain containing 3,251aa) | g.9:116136265A>G,c.370T>C,p.C124R |
| HDHD3(NM_031219,haloacid dehalogenase-like hydrolase domain containing 3,251aa) | g.9:116136198C>T,c.437G>A,p.G146E |
| HDHD3(NM_031219,haloacid dehalogenase-like hydrolase domain containing 3,251aa) | g.9:116136132G>A,c.503C>T,p.P168L |
| HDHD2(NM_032124,haloacid dehalogenase-like hydrolase domain containing 2,259aa) | g.18:44660980T>A,c.197A>T,p.D66V |
| HDHD2(NM_032124,haloacid dehalogenase-like hydrolase domain containing 2,259aa) | g.18:44660924G>A,c.253C>T,p.R85W |