| 基因名 | 突变 |
|---|---|
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122176275A>G,c.2243T>C,p.M748T |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122144740_122144741insG,c.3331_3332insC,p.1111fs |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122135223A>G,c.3494T>C,p.M1165T |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122125400C>T,c.3650G>A,p.R1217H |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122125373G>T,c.3677C>A,p.T1226N |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122125331G>A,c.3719C>T,p.A1240V |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122125292G>A,c.3758C>T,p.P1253L |
| CLASP1(NM_015282,cytoplasmic linker associated protein 1,1538aa) | g.2:122125280G>A,c.3770C>T,p.P1257L |
| CKMT2(NM_001825,creatine kinase, mitochondrial 2 (sarcomeric),419aa) | g.5:80559382G>A,c.1087G>A,p.A363T |
| CKMT2(NM_001825,creatine kinase, mitochondrial 2 (sarcomeric),419aa) | g.5:80553662G>A,c.866G>A,p.R289H |
| CKMT2(NM_001825,creatine kinase, mitochondrial 2 (sarcomeric),419aa) | g.5:80551031G>A,c.667G>A,p.D223N |
| CKMT2(NM_001825,creatine kinase, mitochondrial 2 (sarcomeric),419aa) | g.5:80548708A>G,c.347A>G,p.Y116C |
| CKMT1B(NM_020990,creatine kinase, mitochondrial 1B,417aa) | g.15:43891413G>A,c.1196G>A,p.R399H |
| CKMT1A(NM_001015001,creatine kinase, mitochondrial 1A,417aa) | g.15:43991225C>T,c.1192C>T,p.R398W |
| CKMT1A(NM_001015001,creatine kinase, mitochondrial 1A,417aa) | g.15:43990846G>A,c.1019G>A,p.R340H |
| CKMT1A(NM_001015001,creatine kinase, mitochondrial 1A,417aa) | g.15:43990234G>A,c.899G>A,p.R300H |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45822844C>T,c.128G>A,p.R43Q |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45821183T>C,c.248A>G,p.E83G |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45818825G>C,c.379C>G,p.L127V |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45818800C>T,c.404G>A,p.R135H |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45815163G>A,c.497C>T,p.T166M |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45811692C>G,c.752G>C,p.R251P |
| CKM(NM_001824,creatine kinase, muscle,381aa) | g.19:45810010A>G,c.1144T>C,p.X382Q |
| CKB(NM_001823,creatine kinase, brain,381aa) | g.14:103988806C>A,c.25G>T,p.A9S |
| CKB(NM_001823,creatine kinase, brain,381aa) | g.14:103988413C>A,c.295G>T,p.G99C |
| CKB(NM_001823,creatine kinase, brain,381aa) | g.14:103987754C>G,c.499G>C,p.G167R |
| CKB(NM_001823,creatine kinase, brain,381aa) | g.14:103987723T>C,c.530A>G,p.K177R |
| CKAP5(NM_001008938,cytoskeleton associated protein 5,2032aa) | g.11:46837837C>T,c.370G>A,p.A124T |