| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129297790C>T | CA220758 | LAMA2 | c.2962C>T (p.Gln988Ter) c.3226C>T (p.Gln1076Ter) c.477C>T c.3232C>T (p.Gln1078Ter) c.1357C>T (p.Gln453Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129297790C= | CA1663102527 | LAMA2 | c.2962C= (p.Gln988=) c.3226C= (p.Gln1076=) c.477C= c.3232C= (p.Gln1078=) c.1357C= (p.Gln453=) | dbSNP |