| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12992957C>A | CA398222264 | ELAC2 | c.2342G>T (p.Arg781Leu) c.2285G>T (p.Arg762Leu) c.2222G>T (p.Arg741Leu) n.2229G>T n.2171G>T n.3172G>T n.1888G>T c.1741G>T c.2339G>T (p.Arg780Leu) c.2501G>T (p.Arg834Leu) c.2423G>T (p.Arg808Leu) c.2420G>T (p.Arg807Leu) c.2417G>T (p.Arg806Leu) c.2381G>T (p.Arg794Leu) c.2300G>T (p.Arg767Leu) c.2219G>T (p.Arg740Leu) c.2138G>T (p.Arg713Leu) c.2135G>T (p.Arg712Leu) c.2060G>T (p.Arg687Leu) c.2057G>T (p.Arg686Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992957C>T | CA117235 | ELAC2 | c.2342G>A (p.Arg781His) c.2285G>A (p.Arg762His) c.2222G>A (p.Arg741His) n.2229G>A n.2171G>A n.3172G>A n.1888G>A c.1741G>A c.2339G>A (p.Arg780His) c.2501G>A (p.Arg834His) c.2423G>A (p.Arg808His) c.2420G>A (p.Arg807His) c.2417G>A (p.Arg806His) c.2381G>A (p.Arg794His) c.2300G>A (p.Arg767His) c.2219G>A (p.Arg740His) c.2138G>A (p.Arg713His) c.2135G>A (p.Arg712His) c.2060G>A (p.Arg687His) c.2057G>A (p.Arg686His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |