| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23882028del | CA16041931 | LAMA3 | c.378del (p.Cys127ValfsTer13) c.5205del (p.Cys1736ValfsTer13) c.2097del (p.Cys700ValfsTer13) c.5232del (p.Cys1745ValfsTer13) c.5223del (p.Cys1742ValfsTer13) c.5214del (p.Cys1739ValfsTer13) c.5100del (p.Cys1701ValfsTer13) c.3084del (p.Cys1029ValfsTer13) c.774del (p.Cys259ValfsTer13) n.5473del | ClinVar dbSNP gnomAD v4 |
| 18 | g.23882028A= | CA2290314742 | LAMA3 | c.378A= (p.Pro126=) c.5205A= (p.Pro1735=) c.2097A= (p.Pro699=) c.5232A= (p.Pro1744=) c.5223A= (p.Pro1741=) c.5214A= (p.Pro1738=) c.5100A= (p.Pro1700=) c.3084A= (p.Pro1028=) c.774A= (p.Pro258=) n.5473A= | dbSNP dbSNP |