| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.62330822A>T | CA409567257 | LAMA5 | c.3773T>A (p.Met1258Lys) c.3635T>A (p.Met1212Lys) c.3500T>A (p.Met1167Lys) n.3845T>A n.3844T>A | dbSNP gnomAD v4 |
| 20 | g.62330822A>G | CA9942861 | LAMA5 | c.3773T>C (p.Met1258Thr) c.3635T>C (p.Met1212Thr) c.3500T>C (p.Met1167Thr) n.3845T>C n.3844T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.62330822A>C | CA409567256 | LAMA5 | c.3773T>G (p.Met1258Arg) c.3635T>G (p.Met1212Arg) c.3500T>G (p.Met1167Arg) n.3845T>G n.3844T>G | dbSNP gnomAD v4 |