| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23928148C>T | CA8916873 | LAMA3 | c.3376C>T (p.Arg1126Ter) c.8203C>T (p.Arg2735Ter) c.4798C>T (p.Arg1600Ter) c.8035C>T (p.Arg2679Ter) c.2981C>T c.3208C>T (p.Arg1070Ter) n.2781C>T c.8230C>T (p.Arg2744Ter) c.8221C>T (p.Arg2741Ter) c.8212C>T (p.Arg2738Ter) c.8098C>T (p.Arg2700Ter) c.7933C>T (p.Arg2645Ter) c.6082C>T (p.Arg2028Ter) c.3772C>T (p.Arg1258Ter) n.8471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23928148C>G | CA402062989 | LAMA3 | c.3376C>G (p.Arg1126Gly) c.8203C>G (p.Arg2735Gly) c.4798C>G (p.Arg1600Gly) c.8035C>G (p.Arg2679Gly) c.2981C>G c.3208C>G (p.Arg1070Gly) n.2781C>G c.8230C>G (p.Arg2744Gly) c.8221C>G (p.Arg2741Gly) c.8212C>G (p.Arg2738Gly) c.8098C>G (p.Arg2700Gly) c.7933C>G (p.Arg2645Gly) c.6082C>G (p.Arg2028Gly) c.3772C>G (p.Arg1258Gly) n.8471C>G | dbSNP |
| 18 | g.23928148C= | CA2290334605 | LAMA3 | c.3376C= (p.Arg1126=) c.8203C= (p.Arg2735=) c.4798C= (p.Arg1600=) c.8035C= (p.Arg2679=) c.2981C= c.3208C= (p.Arg1070=) n.2781C= c.8230C= (p.Arg2744=) c.8221C= (p.Arg2741=) c.8212C= (p.Arg2738=) c.8098C= (p.Arg2700=) c.7933C= (p.Arg2645=) c.6082C= (p.Arg2028=) c.3772C= (p.Arg1258=) n.8471C= | dbSNP |