| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43616480G>T | CA10576984 | STRC | c.1086C>A (p.Tyr362Ter) c.1379+32C>A (n.1379+32C>A) c.906C>A (p.Tyr302Ter) c.1054+32C>A (n.1054+32C>A) c.-1024C>A (n.-1024C>A) c.1575C>A (p.Tyr525Ter) c.1113C>A (p.Tyr371Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.43616480G= | CA2173255693 | STRC | c.1086C= (p.Tyr362=) c.1379+32C= (n.1379+32C=) c.906C= (p.Tyr302=) c.1054+32C= (n.1054+32C=) c.-1024C= (n.-1024C=) c.1575C= (p.Tyr525=) c.1113C= (p.Tyr371=) | dbSNP |