| Genename | Variants |
|---|---|
| LAMP5(NM_012261,lysosomal-associated membrane protein family, member 5,280aa) | g.20:9496716C>G,c.307C>G,p.Q103E |
| LAMP5(NM_012261,lysosomal-associated membrane protein family, member 5,280aa) | g.20:9495534A>G,c.35A>G,p.D12G |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182872079del,c.150del,p.50fs |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182872068T>G,c.161A>C,p.Q54P |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182871996G>A,c.233C>T,p.A78V |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182871912G>A,c.317C>T,p.T106I |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182871853C>T,c.376G>A,p.G126S |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182871711G>A,c.518C>T,p.S173L |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182853670T>C,c.952A>G,p.I318V |
| LAMP3(NM_014398,lysosomal-associated membrane protein 3,416aa) | g.3:182853661C>T,c.961G>A,p.G321R |
| LAMP2(NM_002294,lysosomal-associated membrane protein 2,410aa) | g.X:119581851T>A,c.586A>T,p.T196S |
| LAMP2(NM_002294,lysosomal-associated membrane protein 2,410aa) | g.X:119581776C>T,c.661G>A,p.G221R |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113975768T>C,c.926T>C,p.I309T |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113975735G>A,c.893G>A,p.R298Q |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113974661C>T,c.752C>T,p.T251M |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113973832C>T,c.611C>T,p.A204V |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113973786A>T,c.565A>T,p.T189S |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113964153C>G,c.379C>G,p.L127V |
| LAMP1(NM_005561,lysosomal-associated membrane protein 1,417aa) | g.13:113960845G>A,c.107G>A,p.G36D |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133967007T>G,c.4561T>G,p.S1521A |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133963123G>A,c.4396G>A,p.E1466K |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133963008G>A,c.4376G>A,p.R1459Q |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133962980C>T,c.4348C>T,p.R1450C |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133962930C>T,c.4298C>T,p.T1433M |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133962887C>T,c.4255C>T,p.R1419W |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133961040C>T,c.4160C>T,p.A1387V |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133961028T>A,c.4148T>A,p.M1383K |
| LAMC3(NM_006059,laminin, gamma 3,1575aa) | g.9:133961026G>C,c.4146G>C,p.R1382S |