| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129315638C>T | CA220762 | LAMA2 | c.3718C>T (p.Gln1240Ter) c.3982C>T (p.Gln1328Ter) c.3988C>T (p.Gln1330Ter) c.2113C>T (p.Gln705Ter) | ClinVar dbSNP |
| 6 | g.129315638C= | CA1663080101 | LAMA2 | c.3718C= (p.Gln1240=) c.3982C= (p.Gln1328=) c.3988C= (p.Gln1330=) c.2113C= (p.Gln705=) | dbSNP |