| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129098213C>T | CA295383 | LAMA2 | c.437C>T (p.Ser146Phe) n.503C>T n.542C>T n.327C>T c.443C>T (p.Ser148Phe) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.129098213C>G | CA3992339 | LAMA2 | c.437C>G (p.Ser146Cys) n.503C>G n.542C>G n.327C>G c.443C>G (p.Ser148Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129098213C>A | CA365829125 | LAMA2 | c.437C>A (p.Ser146Tyr) n.503C>A n.542C>A n.327C>A c.443C>A (p.Ser148Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |