| Genename | Variants |
|---|---|
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112512915C>T,c.641G>A,p.R214H |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112510369C>T,c.757G>A,p.G253R |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112508789C>T,c.829G>A,p.V277I |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112508770G>T,c.848C>A,p.A283E |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112493889A>T,c.1475T>A,p.L492H |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112493872A>G,c.1492T>C,p.Y498H |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112493823C>T,c.1541G>A,p.R514Q |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112486397G>A,c.1633C>T,p.R545C |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112480078G>A,c.1673C>T,p.A558V |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112462654C>T,c.2719G>A,p.V907I |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112460365C>T,c.3239G>A,p.R1080Q |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112457390C>T,c.3349G>A,p.G1117S |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112457383G>C,c.3356C>G,p.P1119R |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112454586G>C,c.3661C>G,p.L1221V |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112452195C>T,c.3943G>A,p.V1315I |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112450240A>G,c.4171T>C,p.Y1391H |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112440489C>A,c.4691G>T,p.S1564I |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112438951C>T,c.4972G>A,p.V1658M |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112435335G>A,c.5270C>T,p.P1757L |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112430675C>T,c.5437G>A,p.G1813S |
| LAMA4(NM_001105206,laminin, alpha 4,1823aa) | g.6:112430669C>T,c.5443G>A,p.V1815I |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21530087_21530088insG,c.9606_9607insG,p.3202fs |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21530040C>T,c.9559C>T,p.R3187C |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21529777G>C,c.9400G>C,p.D3134H |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21529730G>A,c.9353G>A,p.S3118N |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21526138C>T,c.9241C>T,p.R3081C |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21523934C>T,c.9209C>T,p.T3070M |
| LAMA3(NM_198129,laminin, alpha 3,3333aa) | g.18:21519269C>A,c.8945C>A,p.A2982D |