| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129353285C>T | CA123848 | LAMA2 | c.4645C>T (p.Arg1549Ter) c.4909C>T (p.Arg1637Ter) n.294C>T n.171C>T c.4915C>T (p.Arg1639Ter) c.3040C>T (p.Arg1014Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129353285C>G | CA365618683 | LAMA2 | c.4645C>G (p.Arg1549Gly) c.4909C>G (p.Arg1637Gly) n.294C>G n.171C>G c.4915C>G (p.Arg1639Gly) c.3040C>G (p.Arg1014Gly) | dbSNP gnomAD v4 |
| 6 | g.129353285C= | CA1663120352 | LAMA2 | c.4645C= (p.Arg1549=) c.4909C= (p.Arg1637=) n.294C= n.171C= c.4915C= (p.Arg1639=) c.3040C= (p.Arg1014=) | dbSNP |