| Genename | Variants |
|---|---|
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40257994T>C,c.368A>G,p.K123R |
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40257832G>A,c.530C>T,p.P177L |
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40161527G>T,c.920C>A,p.T307N |
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40161491T>A,c.956A>T,p.K319M |
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40161342_40161343del,c.1104_1105del,p.368fs |
| ENTHD1(NM_152512,ENTH domain containing 1,607aa) | g.22:40161242T>C,c.1205A>G,p.K402R |
| ENSA(NM_207043,endosulfine alpha,133aa) | g.1:150598965G>A,c.221C>T,p.A74V |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77711018A>G,c.1205A>G,p.N402S |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77710990C>T,c.1177C>T,p.R393W |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77710986G>A,c.1173G>A,p.M391I |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77710937C>T,c.1124C>T,p.A375V |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77710915G>A,c.1102G>A,p.A368T |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709388C>A,c.946C>A,p.P316T |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709367G>A,c.925G>A,p.V309I |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709292G>A,c.850G>A,p.G284R |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709154C>A,c.712C>A,p.R238S |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709092G>A,c.650G>A,p.R217Q |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709058G>A,c.616G>A,p.G206S |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77709044C>T,c.602C>T,p.T201M |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77708915G>A,c.473G>A,p.R158Q |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77708914C>T,c.472C>T,p.R158W |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77708906C>T,c.464C>T,p.T155M |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77707416G>A,c.364G>A,p.G122S |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77705098A>G,c.197A>G,p.Y66C |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77704969C>T,c.68C>T,p.P23L |
| ENPP7(NM_178543,ectonucleotide pyrophosphatase/phosphodiesterase 7,458aa) | g.17:77704912T>C,c.11T>C,p.L4P |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185138905C>T,c.68G>A,p.R23H |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185138803C>T,c.170G>A,p.G57E |