| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129427800C>T | CA220776 | LAMA2 | c.5914C>T (p.Gln1972Ter) c.6178C>T (p.Gln2060Ter) c.6184C>T (p.Gln2062Ter) c.4309C>T (p.Gln1437Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129427800C= | CA1663161627 | LAMA2 | c.5914C= (p.Gln1972=) c.6178C= (p.Gln2060=) c.6184C= (p.Gln2062=) c.4309C= (p.Gln1437=) | dbSNP |