| 基因名 | 突变 |
|---|---|
| ENPP2(NM_006209,ectonucleotide pyrophosphatase/phosphodiesterase 2,915aa) | g.8:120580415G>A,c.2287C>T,p.R763W |
| ENPP2(NM_006209,ectonucleotide pyrophosphatase/phosphodiesterase 2,915aa) | g.8:120577150G>A,c.2333C>T,p.S778L |
| ENPP2(NM_006209,ectonucleotide pyrophosphatase/phosphodiesterase 2,915aa) | g.8:120575123G>A,c.2551C>T,p.R851W |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132211646G>C,c.2773G>C,p.D925H |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132211535C>T,c.2662C>T,p.R888W |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132211530G>C,c.2657G>C,p.R886T |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132207719G>A,c.2462G>A,p.R821H |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132206095C>A,c.2336C>A,p.T779N |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132206094A>C,c.2335A>C,p.T779P |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132206079C>T,c.2320C>T,p.R774C |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132201076G>A,c.2002G>A,p.E668K |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132198239C>G,c.1831C>G,p.L611V |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132198206T>C,c.1798T>C,p.Y600H |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132198145G>C,c.1737G>C,p.L579F |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132190576A>G,c.1352A>G,p.Y451C |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132181591C>T,c.860C>T,p.S287F |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132181533T>C,c.802T>C,p.Y268H |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132176074C>T,c.626C>T,p.T209M |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132172387A>G,c.536A>G,p.N179S |
| ENPP1(NM_006208,ectonucleotide pyrophosphatase/phosphodiesterase 1,925aa) | g.6:132172368A>C,c.517A>C,p.K173Q |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111482613A>G,c.2773A>G,p.R925G |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111474611G>A,c.2642G>A,p.R881K |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111464190G>A,c.1964G>A,p.R655H |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111464189C>T,c.1963C>T,p.R655C |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111452435T>A,c.1807+2T>A,p.603Donor |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111441440G>A,c.1645G>A,p.V549M |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111441426A>T,c.1631A>T,p.Y544F |
| ENPEP(NM_001977,glutamyl aminopeptidase (aminopeptidase A),957aa) | g.4:111434607C>G,c.1345C>G,p.Q449E |