| Genename | Variants |
|---|---|
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67147696C>T,c.959C>T,p.P320L |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67137651G>A,c.533G>A,p.R178H |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67109335A>G,c.392A>G,p.K131R |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67109277G>C,c.334G>C,p.E112Q |
| SGCZ(NM_139167,sarcoglycan, zeta,312aa) | g.8:15095122G>A,c.11C>T,p.S4L |
| SGCZ(NM_139167,sarcoglycan, zeta,312aa) | g.8:13959989A>T,c.640T>A,p.S214T |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23898664A>G,c.860A>G,p.N287S |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23898636G>A,c.832G>A,p.G278S |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23824842G>T,c.371G>T,p.G124V |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23824818G>A,c.347G>A,p.R116H |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23824817C>T,c.346C>T,p.R116C |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23808789C>T,c.235C>T,p.R79C |
| SGCG(NM_000231,sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein),291aa) | g.13:23777975G>A,c.142G>A,p.V48I |
| SGCE(NM_001099401,sarcoglycan, epsilon,462aa) | g.7:94232658T>G,c.769A>C,p.T257P |
| SGCE(NM_001099401,sarcoglycan, epsilon,462aa) | g.7:94227317C>G,c.1254-1G>C,p.418Acceptor |
| SGCE(NM_001099401,sarcoglycan, epsilon,462aa) | g.7:94227288C>T,c.1282G>A,p.G428R |
| SGCE(NM_001099401,sarcoglycan, epsilon,462aa) | g.7:94227276T>G,c.1294A>C,p.S432R |
| SGCE(NM_001099401,sarcoglycan, epsilon,462aa) | g.7:94227273C>T,c.1297G>A,p.D433N |
| SGCD(NM_000337,sarcoglycan, delta (35kDa dystrophin-associated glycoprotein),290aa) | g.5:156021953G>A,c.394G>A,p.V132I |
| SGCD(NM_000337,sarcoglycan, delta (35kDa dystrophin-associated glycoprotein),290aa) | g.5:155935708G>A,c.290G>A,p.R97Q |
| SGCB(NM_000232,sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),318aa) | g.4:52895932G>A,c.341C>T,p.S114F |
| SGCB(NM_000232,sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),318aa) | g.4:52895021T>C,c.496A>G,p.I166V |
| SGCB(NM_000232,sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),318aa) | g.4:52894135G>A,c.752C>T,p.A251V |
| SGCB(NM_000232,sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),318aa) | g.4:52890281G>A,c.799C>T,p.R267C |
| SGCB(NM_000232,sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),318aa) | g.4:52890137C>T,c.943G>A,p.G315R |
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48252754C>T,c.1120C>T,p.R374C |
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48246607G>A,c.739G>A,p.V247M |
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48246530G>A,c.662G>A,p.R221H |