| 基因名 | 突变 |
|---|---|
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7906426T>C,c.61T>C,p.W21R |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14849327C>T,c.56G>A,p.W19X |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14849295A>G,c.88T>C,p.C30R |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14839149C>T,c.341G>A,p.R114Q |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14829893A>C,c.843T>G,p.F281L |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14829843G>A,c.893C>T,p.T298M |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14822659G>A,c.1279C>T,p.R427W |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14804343G>A,c.1708C>T,p.R570W |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14792851A>C,c.2102T>G,p.M701R |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14792839C>T,c.2114G>A,p.R705H |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14778820T>C,c.2279A>G,p.Y760C |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14778749G>T,c.2350C>A,p.Q784K |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14774965T>C,c.2575A>G,p.I859V |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14774090G>A,c.2662C>T,p.R888W |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14774089C>T,c.2663G>A,p.R888Q |
| GUCY2C(NM_004963,guanylate cyclase 2C (heat stable enterotoxin receptor),1073aa) | g.12:14766058T>C,c.3215A>G,p.Y1072C |
| GUCY1B3(NM_000857,guanylate cyclase 1, soluble, beta 3,619aa) | g.4:156715173A>G,c.661A>G,p.I221V |
| GUCY1B3(NM_000857,guanylate cyclase 1, soluble, beta 3,619aa) | g.4:156698677T>A,c.180T>A,p.N60K |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156651348G>A,c.2038G>A,p.A680T |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156651282G>A,c.1972G>A,p.D658N |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156651207G>A,c.1897G>A,p.V633M |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156638428A>G,c.1690A>G,p.M564V |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156634446G>C,c.1283G>C,p.R428T |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156634350G>A,c.1187G>A,p.R396Q |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156632363G>A,c.1046G>A,p.R349Q |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156632037C>G,c.720C>G,p.F240L |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156631865G>C,c.548G>C,p.G183A |
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156618189A>C,c.170A>C,p.E57A |