| Genename | Variants |
|---|---|
| CAPN3(NM_000070,calpain 3, (p94),821aa) | g.15:42678464C>G,c.479C>G,p.A160G |
| CAPN3(NM_000070,calpain 3, (p94),821aa) | g.15:42676700G>A,c.329G>A,p.R110Q |
| CAPN3(NM_000070,calpain 3, (p94),821aa) | g.15:42676690G>A,c.319G>A,p.E107K |
| CAPN3(NM_000070,calpain 3, (p94),821aa) | g.15:42676688G>C,c.317G>C,p.C106S |
| CAPN3(NM_000070,calpain 3, (p94),821aa) | g.15:42652013G>A,c.10G>A,p.V4I |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223954080A>C,c.1702A>C,p.K568Q |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223949314G>C,c.1561G>C,p.E521Q |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223947081A>G,c.1427A>G,p.K476R |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223940635C>T,c.1112C>T,p.A371V |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223938625C>T,c.847C>T,p.R283C |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223933020G>A,c.439G>A,p.G147S |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223905492T>C,c.266T>C,p.I89T |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223905473G>A,c.247G>A,p.A83T |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223900544A>G,c.202A>G,p.S68G |
| CAPN2(NM_001748,calpain 2, (m/II) large subunit,700aa) | g.1:223900408C>G,c.66C>G,p.D22E |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64977890G>A,c.2026G>A,p.V676I |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64977371C>T,c.1846C>T,p.R616C |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64977354T>G,c.1829T>G,p.F610C |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64976836G>A,c.1772G>A,p.R591H |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64976806G>A,c.1742G>A,p.R581Q |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64975703C>T,c.1699C>T,p.R567W |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64974282C>T,c.1597C>T,p.P533S |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64974054G>A,c.1474G>A,p.G492R |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64972286G>C,c.1298G>C,p.R433P |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64956091C>T,c.1039C>T,p.R347C |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64954711C>A,c.785C>A,p.A262D |
| CAPN1(NM_001198868,calpain 1, (mu/I) large subunit,714aa) | g.11:64953448G>A,c.517G>A,p.G173R |
| CAPN15(NM_005632,calpain 15,1086aa) | g.16:603490G>A,c.3235G>A,p.G1079S |