| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30737370C>T | CA342761 | SRCAP | c.7330C>T (p.Arg2444Ter) c.1593+17C>T c.6799C>T (p.Arg2267Ter) c.6553C>T (p.Arg2185Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.30737370C= | CA2216733594 | SRCAP | c.7330C= (p.Arg2444=) c.1593+17C= c.6799C= (p.Arg2267=) c.6553C= (p.Arg2185=) | dbSNP |