| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95456391G>C | CA374112186 | PTCH1 | c.2993C>G (p.Thr998Arg) c.3188C>G (p.Thr1063Arg) c.*1499C>G (n.*1499C>G) c.2738C>G (p.Thr913Arg) n.522C>G c.3191C>G (p.Thr1064Arg) c.2960C>G (n.2960C>G) c.3035C>G (p.Thr1012Arg) c.2351C>G (p.Thr784Arg) n.3213C>G n.3930C>G | dbSNP |
| 9 | g.95456391G>A | CA071573 | PTCH1 | c.2993C>T (p.Thr998Met) c.3188C>T (p.Thr1063Met) c.*1499C>T (n.*1499C>T) c.2738C>T (p.Thr913Met) n.522C>T c.3191C>T (p.Thr1064Met) c.2960C>T (n.2960C>T) c.3035C>T (p.Thr1012Met) c.2351C>T (p.Thr784Met) n.3213C>T n.3930C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |