| 基因名 | 突变 |
|---|---|
| ANO8(NM_020959,anoctamin 8,1232aa) | g.19:17439320C>T,c.1877G>A,p.R626Q |
| ANO8(NM_020959,anoctamin 8,1232aa) | g.19:17439182C>T,c.2015G>A,p.R672Q |
| ANO8(NM_020959,anoctamin 8,1232aa) | g.19:17435651G>A,c.3206C>T,p.A1069V |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242163366_242163367del,c.2741_2742del,p.914fs |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242163359G>A,c.2734G>A,p.E912K |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242162642C>G,c.2525C>G,p.T842S |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242162614C>T,c.2497C>T,p.R833W |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242157241G>A,c.2275G>A,p.A759T |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242157188G>A,c.2222G>A,p.R741H |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242157184A>C,c.2218A>C,p.I740L |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242154304G>A,c.1975G>A,p.E659K |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242149979C>T,c.1717C>T,p.R573X |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242149889C>T,c.1627C>T,p.R543C |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242149016G>A,c.1487G>A,p.R496H |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242149010C>T,c.1481C>T,p.A494V |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242148997G>T,c.1468G>T,p.E490X |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242148922C>T,c.1393C>T,p.R465W |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242148787C>T,c.1327C>T,p.R443W |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242148764T>A,c.1304T>A,p.V435E |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242148763G>A,c.1303G>A,p.V435M |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242142827G>A,c.965G>A,p.R322H |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242142826C>T,c.964C>T,p.R322C |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242142787C>T,c.925C>T,p.R309C |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242141694T>A,c.860T>A,p.L287H |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242141644C>G,c.810C>G,p.H270Q |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242140745T>A,c.749T>A,p.F250Y |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242139639C>T,c.715C>T,p.R239C |
| ANO7(NM_001001891,anoctamin 7,933aa) | g.2:242139600G>A,c.676G>A,p.E226K |