| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129486605T>G | CA342967 | LAMA2 | c.7869T>G (p.His2623Gln) c.8145T>G (p.His2715Gln) n.859T>G c.7881T>G (p.His2627Gln) c.7878T>G (p.His2626Gln) c.8133T>G (p.His2711Gln) c.8139T>G (p.His2713Gln) c.8151T>G (p.His2717Gln) c.6276T>G (p.His2092Gln) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129486605T>C | CA451934780 | LAMA2 | c.7869T>C (p.His2623=) c.8145T>C (p.His2715=) n.859T>C c.7881T>C (p.His2627=) c.7878T>C (p.His2626=) c.8133T>C (p.His2711=) c.8139T>C (p.His2713=) c.8151T>C (p.His2717=) c.6276T>C (p.His2092=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129486605T= | CA1663178209 | LAMA2 | c.7869T= (p.His2623=) c.8145T= (p.His2715=) n.859T= c.7881T= (p.His2627=) c.7878T= (p.His2626=) c.8133T= (p.His2711=) c.8139T= (p.His2713=) c.8151T= (p.His2717=) c.6276T= (p.His2092=) | dbSNP |
| 6 | g.129486605T>A | CA365629504 | LAMA2 | c.7869T>A (p.His2623Gln) c.8145T>A (p.His2715Gln) n.859T>A c.7881T>A (p.His2627Gln) c.7878T>A (p.His2626Gln) c.8133T>A (p.His2711Gln) c.8139T>A (p.His2713Gln) c.8151T>A (p.His2717Gln) c.6276T>A (p.His2092Gln) | dbSNP gnomAD v4 |