| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129460287C>T | CA220792 | LAMA2 | c.6955C>T (p.Arg2319Ter) c.7219C>T (p.Arg2407Ter) n.586C>T n.294C>T c.6952C>T (p.Arg2318Ter) c.7213C>T (p.Arg2405Ter) c.7225C>T (p.Arg2409Ter) c.5350C>T (p.Arg1784Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129460287C= | CA1663188427 | LAMA2 | c.6955C= (p.Arg2319=) c.7219C= (p.Arg2407=) n.586C= n.294C= c.6952C= (p.Arg2318=) c.7213C= (p.Arg2405=) c.7225C= (p.Arg2409=) c.5350C= (p.Arg1784=) | dbSNP |