| 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 |
| 17 | g.12992957C= | CA2248421630 | ELAC2 | c.2342G= (p.Arg781=) c.2285G= (p.Arg762=) c.2222G= (p.Arg741=) n.2229G= n.2171G= n.3172G= n.1888G= c.1741G= c.2339G= (p.Arg780=) c.2501G= (p.Arg834=) c.2423G= (p.Arg808=) c.2420G= (p.Arg807=) c.2417G= (p.Arg806=) c.2381G= (p.Arg794=) c.2300G= (p.Arg767=) c.2219G= (p.Arg740=) c.2138G= (p.Arg713=) c.2135G= (p.Arg712=) c.2060G= (p.Arg687=) c.2057G= (p.Arg686=) | dbSNP |
| 17 | g.12992957C>G | CA398222265 | ELAC2 | c.2342G>C (p.Arg781Pro) c.2285G>C (p.Arg762Pro) c.2222G>C (p.Arg741Pro) n.2229G>C n.2171G>C n.3172G>C n.1888G>C c.1741G>C c.2339G>C (p.Arg780Pro) c.2501G>C (p.Arg834Pro) c.2423G>C (p.Arg808Pro) c.2420G>C (p.Arg807Pro) c.2417G>C (p.Arg806Pro) c.2381G>C (p.Arg794Pro) c.2300G>C (p.Arg767Pro) c.2219G>C (p.Arg740Pro) c.2138G>C (p.Arg713Pro) c.2135G>C (p.Arg712Pro) c.2060G>C (p.Arg687Pro) c.2057G>C (p.Arg686Pro) | dbSNP gnomAD v4 |