| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.14713644C>T | CA130551 | ANKH,OTULIN | c.1165G>A (p.Gly389Arg) n.407G>A n.951C>T c.*969C>T (n.*969C>T) c.1081G>A (p.Gly361Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.14713644C= | CA1528879228 | ANKH,OTULIN | c.1165G= (p.Gly389=) n.407G= n.951C= c.*969C= (n.*969C=) c.1081G= (p.Gly361=) | dbSNP |
| 5 | g.14713644C>A | CA359245167 | ANKH,OTULIN | c.1165G>T (p.Gly389Trp) n.407G>T n.951C>A c.*969C>A (n.*969C>A) c.1081G>T (p.Gly361Trp) | dbSNP gnomAD v4 |