| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58665141T>C | CA145523 | ADAM10 | c.541A>G (p.Arg181Gly) c.367A>G c.56-24311A>G (n.56-24311A>G) n.777A>G c.56-67623A>G (n.56-67623A>G) c.319A>G (p.Arg107Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58665141T>A | CA392621781 | ADAM10 | c.541A>T (p.Arg181Ter) c.367A>T c.56-24311A>T (n.56-24311A>T) n.777A>T c.56-67623A>T (n.56-67623A>T) c.319A>T (p.Arg107Ter) | dbSNP gnomAD v3 gnomAD v4 |