| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95468818G>A | CA145935 | PTCH1 | c.1985C>T (p.Thr662Met) c.2180C>T (p.Thr727Met) c.*491C>T (n.*491C>T) c.1730C>T (p.Thr577Met) c.2183C>T (p.Thr728Met) c.1952C>T (n.1952C>T) n.372C>T n.756G>A c.2027C>T (p.Thr676Met) c.1343C>T (p.Thr448Met) n.2371C>T n.3088C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95468818G>C | CA374115415 | PTCH1 | c.1985C>G (p.Thr662Arg) c.2180C>G (p.Thr727Arg) c.*491C>G (n.*491C>G) c.1730C>G (p.Thr577Arg) c.2183C>G (p.Thr728Arg) c.1952C>G (n.1952C>G) n.372C>G n.756G>C c.2027C>G (p.Thr676Arg) c.1343C>G (p.Thr448Arg) n.2371C>G n.3088C>G | dbSNP |