| 基因名 | 突变 |
|---|---|
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1204796C>T,c.599C>T,p.S200L |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1168781C>A,c.503C>A,p.S168Y |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1161295C>T,c.473C>T,p.A158V |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1094066G>A,c.295G>A,p.V99I |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1093900C>A,c.229C>A,p.R77S |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1079280A>C,c.149A>C,p.E50A |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1079262G>A,c.131G>A,p.R44Q |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51705349C>T,c.1514C>T,p.A505V |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51664645C>A,c.1369C>A,p.P457T |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51465733G>C,c.804G>C,p.K268N |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51449352G>A,c.664G>A,p.G222S |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51415351G>A,c.377G>A,p.R126Q |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51363287G>C,c.361G>C,p.V121L |
| SNTG1(NM_018967,syntrophin, gamma 1,517aa) | g.8:51362258G>A,c.250G>A,p.V84I |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121824011G>T,c.73C>A,p.L25M |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121823848G>A,c.236C>T,p.A79V |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121706036G>C,c.684C>G,p.D228E |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121705993T>C,c.727A>G,p.S243G |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121644781A>C,c.899T>G,p.L300R |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121587381G>A,c.1081C>T,p.R361W |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121561028G>A,c.1307C>T,p.A436V |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121554213C>T,c.1361G>A,p.R454H |
| SNTB1(NM_021021,syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1),538aa) | g.8:121551142A>G,c.1592T>C,p.I531T |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32005660G>A,c.566C>T,p.S189L |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32005607G>A,c.619C>T,p.R207W |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000571G>A,c.719C>T,p.S240L |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000565T>C,c.725A>G,p.D242G |
| SNTA1(NM_003098,syntrophin, alpha 1,505aa) | g.20:32000520G>C,c.770C>G,p.A257G |