| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23914539A>T | CA402056682 | LAMA3 | c.2632A>T (p.Met878Leu) c.7459A>T (p.Met2487Leu) c.4054A>T (p.Met1352Leu) c.7291A>T (p.Met2431Leu) c.2237A>T c.2464A>T (p.Met822Leu) n.2037A>T c.7486A>T (p.Met2496Leu) c.7477A>T (p.Met2493Leu) c.7468A>T (p.Met2490Leu) c.7354A>T (p.Met2452Leu) c.7189A>T (p.Met2397Leu) c.5338A>T (p.Met1780Leu) c.3028A>T (p.Met1010Leu) n.7727A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23914539A= | CA2290329012 | LAMA3 | c.2632A= (p.Met878=) c.7459A= (p.Met2487=) c.4054A= (p.Met1352=) c.7291A= (p.Met2431=) c.2237A= c.2464A= (p.Met822=) n.2037A= c.7486A= (p.Met2496=) c.7477A= (p.Met2493=) c.7468A= (p.Met2490=) c.7354A= (p.Met2452=) c.7189A= (p.Met2397=) c.5338A= (p.Met1780=) c.3028A= (p.Met1010=) n.7727A= | dbSNP |
| 18 | g.23914539A>G | CA402056681 | LAMA3 | c.2632A>G (p.Met878Val) c.7459A>G (p.Met2487Val) c.4054A>G (p.Met1352Val) c.7291A>G (p.Met2431Val) c.2237A>G c.2464A>G (p.Met822Val) n.2037A>G c.7486A>G (p.Met2496Val) c.7477A>G (p.Met2493Val) c.7468A>G (p.Met2490Val) c.7354A>G (p.Met2452Val) c.7189A>G (p.Met2397Val) c.5338A>G (p.Met1780Val) c.3028A>G (p.Met1010Val) n.7727A>G | dbSNP gnomAD v4 |