| 基因名 | 突变 |
|---|---|
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90180529G>A,c.2400G>A,p.M800I |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90180453G>A,c.2324G>A,p.R775Q |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179843A>G,c.1714A>G,p.I572V |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179706G>A,c.1577G>A,p.S526N |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179703T>G,c.1574T>G,p.L525R |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179652C>A,c.1523C>A,p.P508H |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179532A>G,c.1403A>G,p.N468S |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179529A>T,c.1400A>T,p.D467V |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179357A>T,c.1228A>T,p.T410S |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90179041A>C,c.912A>C,p.K304N |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90178743A>G,c.614A>G,p.D205G |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90178604A>G,c.475A>G,p.I159V |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90178528del,c.399del,p.133fs |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90178362C>T,c.233C>T,p.T78I |
| LRRC8C(NM_032270,leucine rich repeat containing 8 family, member C,803aa) | g.1:90178308A>G,c.179A>G,p.Q60R |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90050164T>C,c.1955T>C,p.I652T |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90049789G>A,c.1580G>A,p.S527N |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90049730T>G,c.1521T>G,p.F507L |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90049615G>A,c.1406G>A,p.R469H |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90049462C>A,c.1253C>A,p.A418D |
| LRRC8B(NM_015350,leucine rich repeat containing 8 family, member B,803aa) | g.1:90049071G>A,c.862G>A,p.D288N |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131678619G>A,c.2402G>A,p.R801Q |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131671598C>T,c.2155C>T,p.R719W |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131671404_131671405insC,c.1961_1962insC,p.654fs |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131671142G>A,c.1699G>A,p.V567M |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131670579T>C,c.1136T>C,p.I379T |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131670507C>T,c.1064C>T,p.S355L |
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131669718C>T,c.275C>T,p.T92M |