| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129297729C>A | CA341325 | LAMA2 | c.2901C>A (p.Cys967Ter) c.3165C>A (p.Cys1055Ter) c.416C>A c.3171C>A (p.Cys1057Ter) c.1296C>A (p.Cys432Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297729C= | CA1663102380 | LAMA2 | c.2901C= (p.Cys967=) c.3165C= (p.Cys1055=) c.416C= c.3171C= (p.Cys1057=) c.1296C= (p.Cys432=) | dbSNP |