| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23907639C>T | CA254564 | LAMA3 | c.1981C>T (p.Arg661Ter) c.6808C>T (p.Arg2270Ter) c.3611-1514C>T (n.3611-1514C>T) c.6640C>T (p.Arg2214Ter) c.1586C>T c.1813C>T (p.Arg605Ter) n.1386C>T c.6835C>T (p.Arg2279Ter) c.6826C>T (p.Arg2276Ter) c.6817C>T (p.Arg2273Ter) c.6703C>T (p.Arg2235Ter) c.6746-1514C>T (n.6746-1514C>T) c.4687C>T (p.Arg1563Ter) c.2377C>T (p.Arg793Ter) n.7076C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23907639C>G | CA402052827 | LAMA3 | c.1981C>G (p.Arg661Gly) c.6808C>G (p.Arg2270Gly) c.3611-1514C>G (n.3611-1514C>G) c.6640C>G (p.Arg2214Gly) c.1586C>G c.1813C>G (p.Arg605Gly) n.1386C>G c.6835C>G (p.Arg2279Gly) c.6826C>G (p.Arg2276Gly) c.6817C>G (p.Arg2273Gly) c.6703C>G (p.Arg2235Gly) c.6746-1514C>G (n.6746-1514C>G) c.4687C>G (p.Arg1563Gly) c.2377C>G (p.Arg793Gly) n.7076C>G | dbSNP gnomAD v2 gnomAD v4 |