
| Genename | Variants |
|---|---|
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129612765G>T,c.2756G>T,p.R919L |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129601267G>A,c.2512G>A,p.G838R |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129601217C>T,c.2462C>T,p.T821M |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129588259G>T,c.2217G>T,p.W739C |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129581891A>G,c.2132A>G,p.Y711C |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129573389_129573390del,c.2045_2046del,p.682fs |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129571330G>A,c.1856G>A,p.R619H |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129571272G>A,c.1798G>A,p.G600R |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129511468G>A,c.1586G>A,p.S529N |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129498917G>A,c.1373G>A,p.R458K |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129486815G>A,c.1301G>A,p.R434Q |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129475728G>A,c.1106G>A,p.R369H |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129470136G>A,c.922G>A,p.E308K |
| LAMA2(NM_000426,laminin, alpha 2,3122aa) | g.6:129465124T>C,c.718T>C,p.Y240H |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7117667C>T,c.53G>A,p.R18Q |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7080342C>T,c.176G>A,p.R59Q |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7080337C>T,c.181G>A,p.V61I |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7080333C>T,c.185G>A,p.R62Q |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7080298C>T,c.220G>A,p.A74T |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7050847G>A,c.434C>T,p.T145M |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7049171C>T,c.674G>A,p.R225H |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7043335A>G,c.1046T>C,p.L349S |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7037641G>A,c.1673C>T,p.A558V |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7036041A>G,c.1784T>C,p.I595T |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7034683C>T,c.1846G>A,p.G616R |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7034508T>G,c.2021A>C,p.N674T |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7032153C>T,c.2186G>A,p.R729H |
| LAMA1(NM_005559,laminin, alpha 1,3075aa) | g.18:7032103C>T,c.2236G>A,p.G746S |