Genename |
Variants |
CAPN13(NM_144575,calpain 13,669aa) |
g.2:30957326A>G,c.1787T>C,p.I596T |
CAPN13(NM_144575,calpain 13,669aa) |
g.2:30955376A>G,c.1855T>C,p.Y619H |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39234681G>A,c.125C>T,p.S42L |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39234666C>T,c.140G>A,p.R47H |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39233699C>T,c.281G>A,p.R94H |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39233142C>T,c.334G>A,p.A112T |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39233109G>A,c.367C>T,p.R123W |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39232475C>T,c.502G>A,p.V168M |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39232468G>A,c.509C>T,p.S170L |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39230852C>T,c.568G>A,p.G190S |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39230735G>A,c.685C>T,p.R229C |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39229089A>G,c.859T>C,p.C287R |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39228244T>C,c.1000A>G,p.T334A |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39228241C>T,c.1003G>A,p.V335M |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39228193C>G,c.1051G>C,p.G351R |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39228193C>A,c.1051G>T,p.G351W |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39227939A>C,c.1219T>G,p.W407G |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39227915G>A,c.1243C>T,p.P415S |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39226927T>C,c.1406A>G,p.H469R |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39226900G>C,c.1433C>G,p.A478G |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39225491G>A,c.1706C>T,p.S569F |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39225486G>A,c.1711C>T,p.L571F |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39221858G>A,c.1963C>T,p.H655Y |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39221822G>A,c.1999C>T,p.R667C |
CAPN12(NM_144691,calpain 12,719aa) |
g.19:39221801G>A,c.2020C>T,p.R674C |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44151490G>A,c.2183G>A,p.S728N |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44150927T>G,c.2089T>G,p.F697V |
CAPN11(NM_007058,calpain 11,739aa) |
g.6:44150728T>G,c.1989T>G,p.Y663X |