| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36236865G>A | CA275247 | CLTA,GNE | c.829C>T (p.Arg277Trp) c.559C>T (p.Arg187Trp) c.736C>T (p.Arg246Trp) c.486-26333G>A (n.486-26333G>A) c.440-2733C>T (n.440-2733C>T) c.721C>T (p.Arg241Trp) c.710-2733C>T (n.710-2733C>T) c.617-2733C>T (n.617-2733C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36236865G= | CA1846360465 | CLTA,GNE | c.829C= (p.Arg277=) c.559C= (p.Arg187=) c.736C= (p.Arg246=) c.486-26333G= (n.486-26333G=) c.440-2733C= (n.440-2733C=) c.721C= (p.Arg241=) c.710-2733C= (n.710-2733C=) c.617-2733C= (n.617-2733C=) | dbSNP |