| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.33384205G>A | CA118064 | LARGE1 | c.992C>T (p.Ser331Phe) c.389C>T (p.Ser130Phe) n.650C>T n.800C>T c.788C>T (p.Ser263Phe) c.23C>T (p.Ser8Phe) n.1039C>T | ClinVar dbSNP COSMIC COSMIC |
| 22 | g.33384205G>C | CA411545046 | LARGE1 | c.992C>G (p.Ser331Cys) c.389C>G (p.Ser130Cys) n.650C>G n.800C>G c.788C>G (p.Ser263Cys) c.23C>G (p.Ser8Cys) n.1039C>G | dbSNP gnomAD v2 gnomAD v4 |