| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.183125412T>A | CA343671728 | LAMC1 | c.2663T>A (p.Leu888Gln) n.225T>A | dbSNP |
| 1 | g.183125412T>G | CA343671743 | LAMC1 | c.2663T>G (p.Leu888Arg) n.225T>G | dbSNP |
| 1 | g.183125412T>C | CA1281433 | LAMC1 | c.2663T>C (p.Leu888Pro) n.225T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183125412T= | CA1139774336 | LAMC1 | c.2663T= (p.Leu888=) n.225T= | dbSNP |