| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129315556del | CA16618241 | LAMA2 | c.3636del (p.Gln1213AsnfsTer11) c.3900del (p.Gln1301AsnfsTer11) c.3906del (p.Gln1303AsnfsTer11) c.2031del (p.Gln678AsnfsTer11) | ClinVar dbSNP |
| 6 | g.129315556dup | CA2680313963 | LAMA2 | c.3636dup (p.Gln1213SerfsTer30) c.3900dup (p.Gln1301SerfsTer30) c.3906dup (p.Gln1303SerfsTer30) c.2031dup (p.Gln678SerfsTer30) | dbSNP gnomAD v4 |