| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.116019846T>C | CA115346 | MED13L | c.752A>G (p.Glu251Gly) c.722A>G (p.Glu241Gly) c.180A>G c.662A>G (p.Glu221Gly) n.516A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.116019846T= | CA2065393804 | MED13L | c.752A= (p.Glu251=) c.722A= (p.Glu241=) c.180A= c.662A= (p.Glu221=) n.516A= | dbSNP |