| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129383212G>A | CA3993755 | LAMA2 | c.5050G>A (p.Glu1684Lys) c.5314G>A (p.Glu1772Lys) n.1470G>A c.5320G>A (p.Glu1774Lys) c.3445G>A (p.Glu1149Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129383212G>T | CA220771 | LAMA2 | c.5050G>T (p.Glu1684Ter) c.5314G>T (p.Glu1772Ter) n.1470G>T c.5320G>T (p.Glu1774Ter) c.3445G>T (p.Glu1149Ter) | ClinVar dbSNP |
| 6 | g.129383212G>C | CA3993756 | LAMA2 | c.5050G>C (p.Glu1684Gln) c.5314G>C (p.Glu1772Gln) n.1470G>C c.5320G>C (p.Glu1774Gln) c.3445G>C (p.Glu1149Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129383212G= | CA1663150168 | LAMA2 | c.5050G= (p.Glu1684=) c.5314G= (p.Glu1772=) n.1470G= c.5320G= (p.Glu1774=) c.3445G= (p.Glu1149=) | dbSNP |