| 基因名 | 突变 |
|---|---|
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185074884G>A,c.244C>T,p.R82C |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185074832G>T,c.296C>A,p.T99N |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185074829T>G,c.299A>C,p.N100T |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185038161C>T,c.703G>A,p.V235I |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185033947T>A,c.871A>T,p.S291C |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185012425C>T,c.1228G>A,p.V410M |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185012401C>T,c.1252G>A,p.A418T |
| ENPP6(NM_153343,ectonucleotide pyrophosphatase/phosphodiesterase 6,440aa) | g.4:185012398T>C,c.1255A>G,p.S419G |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135984G>T,c.16C>A,p.L6I |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135884C>G,c.116G>C,p.R39P |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135795T>C,c.205A>G,p.I69V |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135708G>T,c.292C>A,p.P98T |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135587A>G,c.413T>C,p.M138T |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135579C>T,c.421G>A,p.G141R |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135489T>C,c.511A>G,p.I171V |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135395G>A,c.605C>T,p.P202L |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135273G>C,c.727C>G,p.Q243E |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46135231C>T,c.769G>A,p.D257N |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46133282T>C,c.848A>G,p.Y283C |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46133236del,c.894del,p.298fs |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46133229C>T,c.901G>A,p.V301I |
| ENPP5(NM_021572,ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative),477aa) | g.6:46129407A>G,c.1090T>C,p.S364P |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46111334G>A,c.1319G>A,p.R440Q |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46108932A>G,c.970A>G,p.I324V |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46108833A>G,c.871A>G,p.M291V |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46108088T>A,c.768T>A,p.D256E |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46108083A>G,c.763A>G,p.I255V |
| ENPP4(NM_014936,ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative),453aa) | g.6:46107752C>G,c.432C>G,p.H144Q |