| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246262G>A | CA5056732 | CLTA,GNE | c.478C>T (p.Arg160Ter) c.208C>T (p.Arg70Ter) c.385C>T (p.Arg129Ter) c.486-16936G>A (n.486-16936G>A) c.370C>T (p.Arg124Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246262G= | CA1846320879 | CLTA,GNE | c.478C= (p.Arg160=) c.208C= (p.Arg70=) c.385C= (p.Arg129=) c.486-16936G= (n.486-16936G=) c.370C= (p.Arg124=) | dbSNP |
| 9 | g.36246262G>C | CA373419090 | CLTA,GNE | c.478C>G (p.Arg160Gly) c.208C>G (p.Arg70Gly) c.385C>G (p.Arg129Gly) c.486-16936G>C (n.486-16936G>C) c.370C>G (p.Arg124Gly) | ClinVar dbSNP |