| 基因名 | 突变 |
|---|---|
| GUCY1A3(NM_000856,guanylate cyclase 1, soluble, alpha 3,690aa) | g.4:156618047A>C,c.28A>C,p.K10Q |
| GUCY1A2(NM_001256424,guanylate cyclase 1, soluble, alpha 2,763aa) | g.11:106888756T>A,c.26A>T,p.E9V |
| GUCY1A2(NM_001256424,guanylate cyclase 1, soluble, alpha 2,763aa) | g.11:106888667T>G,c.115A>C,p.S39R |
| GUCY1A2(NM_001256424,guanylate cyclase 1, soluble, alpha 2,763aa) | g.11:106617312G>T,c.1894C>A,p.Q632K |
| GUCY1A2(NM_001256424,guanylate cyclase 1, soluble, alpha 2,763aa) | g.11:106558442A>G,c.2125T>C,p.S709P |
| GUCD1(NM_031444,guanylyl cyclase domain containing 1,240aa) | g.22:24944943C>T,c.70G>A,p.V24I |
| GUCA2B(NM_007102,guanylate cyclase activator 2B (uroguanylin),112aa) | g.1:42619209C>A,c.88C>A,p.Q30K |
| GUCA2B(NM_007102,guanylate cyclase activator 2B (uroguanylin),112aa) | g.1:42619152C>A,c.31C>A,p.P11T |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42630367A>G,c.17T>C,p.L6P |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42630364G>A,c.20C>T,p.S7F |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42629176C>T,c.181G>A,p.G61S |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42629092C>A,c.265G>T,p.E89X |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42628596G>A,c.329C>T,p.A110V |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42628591A>T,c.334T>A,p.C112S |
| GUCA2A(NM_033553,guanylate cyclase activator 2A (guanylin),115aa) | g.1:42628581C>T,c.344G>A,p.C115Y |
| GUCA1C(NM_005459,guanylate cyclase activator 1C,209aa) | g.3:108639423C>T,c.214G>A,p.V72I |
| GUCA1C(NM_005459,guanylate cyclase activator 1C,209aa) | g.3:108639384T>C,c.253A>G,p.M85V |
| GUCA1C(NM_005459,guanylate cyclase activator 1C,209aa) | g.3:108639365T>A,c.272A>T,p.Q91L |
| GUCA1C(NM_005459,guanylate cyclase activator 1C,209aa) | g.3:108635060G>A,c.356C>T,p.A119V |
| GUCA1C(NM_005459,guanylate cyclase activator 1C,209aa) | g.3:108634973C>A,c.442+1G>T,p.148Donor |
| GUCA1B(NM_002098,guanylate cyclase activator 1B (retina),200aa) | g.6:42162494T>C,c.65A>G,p.Q22R |
| GUCA1B(NM_002098,guanylate cyclase activator 1B (retina),200aa) | g.6:42162372G>A,c.187C>T,p.R63X |
| GUCA1B(NM_002098,guanylate cyclase activator 1B (retina),200aa) | g.6:42156424C>T,c.253G>A,p.V85M |
| GUCA1B(NM_002098,guanylate cyclase activator 1B (retina),200aa) | g.6:42153507C>T,c.386G>A,p.R129Q |
| GUCA1B(NM_002098,guanylate cyclase activator 1B (retina),200aa) | g.6:42153428C>A,c.465G>T,p.E155D |
| GUCA1A(NM_000409,guanylate cyclase activator 1A (retina),201aa) | g.6:42147086A>G,c.551A>G,p.Q184R |
| GUCA1A(NM_000409,guanylate cyclase activator 1A (retina),201aa) | g.6:42141475T>A,c.124T>A,p.F42I |
| GTSF1L(NM_176791,gametocyte specific factor 1-like,148aa) | g.20:42355270A>T,c.65T>A,p.F22Y |