| 基因名 | 突变 |
|---|---|
| LRRC8A(NM_001127244,leucine rich repeat containing 8 family, member A,810aa) | g.9:131669682C>T,c.239C>T,p.T80I |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70505178C>T,c.3557C>T,p.A1186V |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70505051G>A,c.3430G>A,p.G1144S |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70504866T>G,c.3245T>G,p.M1082R |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70504863C>T,c.3242C>T,p.P1081L |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70504781C>T,c.3160C>T,p.H1054Y |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70501827T>G,c.1905T>G,p.N635K |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70493956C>T,c.1783C>T,p.R595C |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70488932G>A,c.1555G>A,p.V519I |
| LRRC7(NM_020794,leucine rich repeat containing 7,1537aa) | g.1:70460304A>G,c.878A>G,p.N293S |
| LRRC73(NM_001012974,leucine rich repeat containing 73,316aa) | g.6:43475649C>G,c.572G>C,p.G191A |
| LRRC72(NM_001195280,leucine rich repeat containing 72,287aa) | g.7:16620992A>T,c.742A>T,p.M248L |
| LRRC72(NM_001195280,leucine rich repeat containing 72,287aa) | g.7:16620965C>A,c.715C>A,p.P239T |
| LRRC72(NM_001195280,leucine rich repeat containing 72,287aa) | g.7:16572132C>T,c.103C>T,p.Q35X |
| LRRC72(NM_001195280,leucine rich repeat containing 72,287aa) | g.7:16566645C>G,c.68C>G,p.T23S |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902708G>T,c.1627G>T,p.D543Y |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902678G>A,c.1597G>A,p.A533T |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902657G>A,c.1576G>A,p.A526T |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902311G>A,c.1537G>A,p.V513M |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902281T>G,c.1507T>G,p.S503A |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902224A>C,c.1450A>C,p.I484L |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156902222G>A,c.1448G>A,p.R483H |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156900320G>C,c.1241-1G>C,p.414Acceptor |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156899169C>T,c.1094C>T,p.T365M |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156899153G>A,c.1078G>A,p.D360N |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156899145C>T,c.1070C>T,p.A357V |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156899079C>T,c.1004C>T,p.S335F |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156897582G>C,c.880G>C,p.D294H |