Genename |
Variants |
ACTL9(NM_178525,actin-like 9,416aa) |
g.19:8807850T>A,c.1202A>T,p.E401V |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18152977T>C,c.1064T>C,p.M355T |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18152647G>A,c.734G>A,p.R245H |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18152646C>T,c.733C>T,p.R245C |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18152382G>A,c.469G>A,p.V157M |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18149792C>T,c.289C>T,p.P97S |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18149666A>G,c.163A>G,p.I55V |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18149645C>T,c.142C>T,p.R48C |
ACTL8(NM_030812,actin-like 8,366aa) |
g.1:18149510G>T,c.7G>T,p.A3S |
ACTL7B(NM_006686,actin-like 7B,415aa) |
g.9:111618209A>G,c.2T>C,p.M1T |
ACTL7B(NM_006686,actin-like 7B,415aa) |
g.9:111617827G>T,c.384C>A,p.D128E |
ACTL7B(NM_006686,actin-like 7B,415aa) |
g.9:111617414G>A,c.797C>T,p.P266L |
ACTL7B(NM_006686,actin-like 7B,415aa) |
g.9:111617202C>T,c.1009G>A,p.A337T |
ACTL7B(NM_006686,actin-like 7B,415aa) |
g.9:111617174G>C,c.1037C>G,p.T346S |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625755G>A,c.1153G>A,p.D385N |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625629C>G,c.1027C>G,p.L343V |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625620G>A,c.1018G>A,p.V340M |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625242G>A,c.640G>A,p.G214S |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625149T>C,c.547T>C,p.Y183H |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625083G>C,c.481G>C,p.A161P |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111625041C>A,c.439C>A,p.Q147K |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111624985A>G,c.383A>G,p.H128R |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111624861G>A,c.259G>A,p.G87S |
ACTL7A(NM_006687,actin-like 7A,435aa) |
g.9:111624726G>A,c.124G>A,p.V42M |
ACTL6B(NM_016188,actin-like 6B,426aa) |
g.7:100245132G>C,c.694C>G,p.P232A |
ACTL6A(NM_178042,actin-like 6A,387aa) |
g.3:179294509T>A,c.547T>A,p.S183T |
ACTL6A(NM_178042,actin-like 6A,387aa) |
g.3:179294027del,c.373del,p.125fs |
ACTL10(NM_001024675,actin-like 10,245aa) |
g.20:32255866G>C,c.563G>C,p.R188P |