| 基因名 | 突变 |
|---|---|
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124739948T>C,c.940A>G,p.N314D |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124739869G>A,c.1019C>T,p.P340L |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124738285G>C,c.1409C>G,p.T470R |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124732739T>A,c.1684A>T,p.T562S |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124732618A>G,c.1805T>C,p.F602S |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124732426G>A,c.1997C>T,p.S666F |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124732375T>C,c.2048A>G,p.Q683R |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124732177C>G,c.2246G>C,p.R749T |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731991G>A,c.2432C>T,p.T811I |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731806C>T,c.2617G>A,p.V873I |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731800T>A,c.2623A>T,p.T875S |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731689T>A,c.2734A>T,p.T912S |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731553G>A,c.2870C>T,p.T957M |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124731485C>G,c.2938G>C,p.V980L |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124729336C>T,c.3020G>A,p.R1007H |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124728626A>G,c.3116T>C,p.M1039T |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124728587G>A,c.3155C>T,p.P1052L |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124721122C>T,c.3335G>A,p.R1112Q |
| HEG1(NM_020733,heart development protein with EGF-like domains 1,1381aa) | g.3:124716667G>T,c.3518C>A,p.A1173E |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197185072C>G,c.976G>C,p.V326L |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197184538C>T,c.1076G>A,p.G359E |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197184364T>C,c.1250A>G,p.N417S |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183957C>T,c.1657G>A,p.G553S |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183858C>T,c.1756G>A,p.D586N |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183819C>T,c.1795G>A,p.E599K |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183701A>G,c.1913T>C,p.L638P |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183638C>T,c.1976G>A,p.R659Q |
| HECW2(NM_020760,HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2,1572aa) | g.2:197183570C>T,c.2044G>A,p.G682R |