| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.14713637A>G | CA253430 | ANKH,OTULIN | c.1172T>C (p.Leu391Pro) n.414T>C n.944A>G c.*962A>G (n.*962A>G) c.1088T>C (p.Leu363Pro) | ClinVar dbSNP |
| 5 | g.14713637A= | CA1528879226 | ANKH,OTULIN | c.1172T= (p.Leu391=) n.414T= n.944A= c.*962A= (n.*962A=) c.1088T= (p.Leu363=) | dbSNP |