| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23939322C>T | CA254569 | LAMA3 | c.4135C>T (p.Gln1379Ter) c.8962C>T (p.Gln2988Ter) c.5557C>T (p.Gln1853Ter) c.8794C>T (p.Gln2932Ter) c.3967C>T (p.Gln1323Ter) n.3540C>T c.8989C>T (p.Gln2997Ter) c.8980C>T (p.Gln2994Ter) c.8971C>T (p.Gln2991Ter) c.8857C>T (p.Gln2953Ter) c.8692C>T (p.Gln2898Ter) c.6841C>T (p.Gln2281Ter) c.4531C>T (p.Gln1511Ter) n.9230C>T | ClinVar dbSNP |
| 18 | g.23939322C= | CA2290339028 | LAMA3 | c.4135C= (p.Gln1379=) c.8962C= (p.Gln2988=) c.5557C= (p.Gln1853=) c.8794C= (p.Gln2932=) c.3967C= (p.Gln1323=) n.3540C= c.8989C= (p.Gln2997=) c.8980C= (p.Gln2994=) c.8971C= (p.Gln2991=) c.8857C= (p.Gln2953=) c.8692C= (p.Gln2898=) c.6841C= (p.Gln2281=) c.4531C= (p.Gln1511=) n.9230C= | dbSNP |