| 基因名 | 突变 |
|---|---|
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472887G>A,c.613G>A,p.E205K |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472707G>C,c.433G>C,p.A145P |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472662G>C,c.388G>C,p.G130R |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472599C>A,c.325C>A,p.R109S |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472555C>T,c.281C>T,p.P94L |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472455A>T,c.181A>T,p.T61S |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472429C>A,c.155C>A,p.P52H |
| CHST11(NM_018413,carbohydrate (chondroitin 4) sulfotransferase 11,352aa) | g.12:105151192G>C,c.670G>C,p.A224P |
| CHST11(NM_018413,carbohydrate (chondroitin 4) sulfotransferase 11,352aa) | g.12:105150838G>A,c.316G>A,p.D106N |
| CHST10(NM_004854,carbohydrate sulfotransferase 10,356aa) | g.2:101012068A>G,c.436T>C,p.S146P |
| CHST10(NM_004854,carbohydrate sulfotransferase 10,356aa) | g.2:101010098C>T,c.680G>A,p.R227K |
| CHST10(NM_004854,carbohydrate sulfotransferase 10,356aa) | g.2:101010038G>A,c.740C>T,p.P247L |
| CHST10(NM_004854,carbohydrate sulfotransferase 10,356aa) | g.2:101009838C>T,c.940G>A,p.V314M |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233410388C>T,c.1516C>T,p.P506S |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233409491C>T,c.1259C>T,p.P420L |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233408068G>C,c.889G>C,p.E297Q |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233406178G>A,c.445G>A,p.A149T |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233405119A>G,c.224A>G,p.N75S |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233404782C>T,c.136C>T,p.R46X |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233404776G>A,c.130G>A,p.A44T |
| CHRNG(NM_005199,cholinergic receptor, nicotinic, gamma (muscle),517aa) | g.2:233404771G>A,c.125G>A,p.R42Q |
| CHRNE(NM_000080,cholinergic receptor, nicotinic, epsilon (muscle),493aa) | g.17:4806052C>A,c.53G>T,p.G18V |
| CHRNE(NM_000080,cholinergic receptor, nicotinic, epsilon (muscle),493aa) | g.17:4804109A>G,c.896T>C,p.L299P |
| CHRNE(NM_000080,cholinergic receptor, nicotinic, epsilon (muscle),493aa) | g.17:4802111C>G,c.1402G>C,p.V468L |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233399868G>A,c.1400G>A,p.R467H |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233399048A>G,c.1367A>G,p.N456S |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233398698C>T,c.1105C>T,p.P369S |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233396160C>T,c.919C>T,p.P307S |