| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23928765G>A | CA16041940 | LAMA3 | c.3609G>A (p.Trp1203Ter) c.8436G>A (p.Trp2812Ter) c.5031G>A (p.Trp1677Ter) c.8268G>A (p.Trp2756Ter) c.3214G>A c.3441G>A (p.Trp1147Ter) c.141G>A (p.Trp47Ter) n.3014G>A c.8463G>A (p.Trp2821Ter) c.8454G>A (p.Trp2818Ter) c.8445G>A (p.Trp2815Ter) c.8331G>A (p.Trp2777Ter) c.8166G>A (p.Trp2722Ter) c.6315G>A (p.Trp2105Ter) c.4005G>A (p.Trp1335Ter) n.8704G>A | ClinVar dbSNP |
| 18 | g.23928765G>T | CA402064336 | LAMA3 | c.3609G>T (p.Trp1203Cys) c.8436G>T (p.Trp2812Cys) c.5031G>T (p.Trp1677Cys) c.8268G>T (p.Trp2756Cys) c.3214G>T c.3441G>T (p.Trp1147Cys) c.141G>T (p.Trp47Cys) n.3014G>T c.8463G>T (p.Trp2821Cys) c.8454G>T (p.Trp2818Cys) c.8445G>T (p.Trp2815Cys) c.8331G>T (p.Trp2777Cys) c.8166G>T (p.Trp2722Cys) c.6315G>T (p.Trp2105Cys) c.4005G>T (p.Trp1335Cys) n.8704G>T | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23928765G= | CA2290334854 | LAMA3 | c.3609G= (p.Trp1203=) c.8436G= (p.Trp2812=) c.5031G= (p.Trp1677=) c.8268G= (p.Trp2756=) c.3214G= c.3441G= (p.Trp1147=) c.141G= (p.Trp47=) n.3014G= c.8463G= (p.Trp2821=) c.8454G= (p.Trp2818=) c.8445G= (p.Trp2815=) c.8331G= (p.Trp2777=) c.8166G= (p.Trp2722=) c.6315G= (p.Trp2105=) c.4005G= (p.Trp1335=) n.8704G= | dbSNP dbSNP |