| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129486612C>T | CA295401 | LAMA2 | c.7876C>T (p.Arg2626Ter) c.8152C>T (p.Arg2718Ter) n.866C>T c.7888C>T (p.Arg2630Ter) c.7885C>T (p.Arg2629Ter) c.8140C>T (p.Arg2714Ter) c.8146C>T (p.Arg2716Ter) c.8158C>T (p.Arg2720Ter) c.6283C>T (p.Arg2095Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129486612C>A | CA451934785 | LAMA2 | c.7876C>A (p.Arg2626=) c.8152C>A (p.Arg2718=) n.866C>A c.7888C>A (p.Arg2630=) c.7885C>A (p.Arg2629=) c.8140C>A (p.Arg2714=) c.8146C>A (p.Arg2716=) c.8158C>A (p.Arg2720=) c.6283C>A (p.Arg2095=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |