Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.7015724G>A | CA16620719 | LAMA1 | c.3124C>T (p.Gln1042Ter) n.4139C>T c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
18 | g.7015724G= | CA2282694595 | LAMA1 | c.3124C= (p.Gln1042=) n.4139C= c.1552C= (p.Gln518=) | dbSNP |