| 基因名 | 突变 |
|---|---|
| RGPD8(NM_001164463,RANBP2-like and GRIP domain containing 8,1765aa) | g.2:113147740C>T,c.2782G>A,p.E928K |
| RGPD8(NM_001164463,RANBP2-like and GRIP domain containing 8,1765aa) | g.2:113145814C>T,c.4708G>A,p.G1570R |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108499138G>A,c.5075G>A,p.S1692N |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108496538G>A,c.5039G>A,p.S1680N |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108496519C>T,c.5020C>T,p.R1674W |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108496503C>G,c.5004C>G,p.H1668Q |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108496435T>A,c.4936T>A,p.W1646R |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108489252G>T,c.4792G>T,p.E1598X |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108489225G>T,c.4765G>T,p.A1589S |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108488800G>A,c.4340G>A,p.R1447H |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108488742G>T,c.4282G>T,p.V1428L |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108488719T>A,c.4259T>A,p.M1420K |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108488475G>T,c.4015G>T,p.V1339F |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108487834G>A,c.3374G>A,p.G1125E |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108487781A>C,c.3321A>C,p.K1107N |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108487440A>C,c.2980A>C,p.K994Q |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108487330A>G,c.2870A>G,p.N957S |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108487243C>T,c.2783C>T,p.S928L |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108479487A>T,c.2468A>T,p.K823M |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108479439A>G,c.2420A>G,p.D807G |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108479432G>A,c.2413G>A,p.A805T |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108479286A>G,c.2354A>G,p.K785R |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108475958A>G,c.1582A>G,p.R528G |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108475951T>G,c.1575T>G,p.C525W |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108475928C>T,c.1552C>T,p.L518F |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108471084C>T,c.1051C>T,p.R351X |
| RGPD4(NM_182588,RANBP2-like and GRIP domain containing 4,1758aa) | g.2:108443503G>C,c.34G>C,p.V12L |
| RGPD3(NM_001144013,RANBP2-like and GRIP domain containing 3,1758aa) | g.2:107084720C>A,c.25G>T,p.E9X |