Genename |
Variants |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44147881G>T,c.1621G>T,p.E541X |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44147821A>G,c.1561A>G,p.I521V |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44147777G>A,c.1517G>A,p.R506Q |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44145063T>C,c.1322T>C,p.V441A |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44144374C>T,c.1058C>T,p.T353M |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44144030G>A,c.956G>A,p.R319Q |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44141119T>C,c.827T>C,p.I276T |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44141088G>A,c.796G>A,p.V266M |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44140054_44140055insGGCTGCC,c.425_426insGGCTGCC,p.142fs |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44140041G>T,c.412G>T,p.D138Y |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44137700C>T,c.397C>T,p.Q133X |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44137036C>T,c.107C>T,p.T36M |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44134522G>A,c.44G>A,p.S15N |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241538074A>G,c.1996A>G,p.I666V |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241537306T>C,c.1745T>C,p.V582A |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241536294A>G,c.1678A>G,p.T560A |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241536279C>T,c.1663C>T,p.R555C |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241536126A>G,c.1510A>G,p.T504A |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241536114G>C,c.1498G>C,p.A500P |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241534564C>T,c.1121C>T,p.P374L |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241534088C>T,c.959C>T,p.P320L |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241534002G>T,c.873G>T,p.E291D |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241533989C>T,c.860C>T,p.A287V |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241533370C>T,c.736C>T,p.R246W |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241531477C>A,c.598C>A,p.P200T |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241530242C>T,c.284C>T,p.P95L |
CAPN10(NM_023083,calpain 10,672aa) |
g.2:241526428C>G,c.100C>G,p.L34V |
CAPG(NM_001747,capping protein (actin filament), gelsolin-like,348aa) |
g.2:85629266C>T,c.3G>A,p.M1I |