| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46701579A>G | CA16042503 | TMIE | c.92A>G (p.Glu31Gly) c.-66-4211A>G (n.-66-4211A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46701579A= | CA1362231023 | TMIE | c.92A= (p.Glu31=) c.-66-4211A= (n.-66-4211A=) | dbSNP |