| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12995006T>A | CA117236 | ELAC2 | c.1865A>T (p.Glu622Val) c.1808A>T (p.Glu603Val) c.1745A>T (p.Glu582Val) n.1752A>T n.1694A>T n.2695A>T n.1411A>T n.442A>T c.1264A>T c.1862A>T (p.Glu621Val) c.1946A>T (p.Glu649Val) c.1826A>T (p.Glu609Val) c.1664A>T (p.Glu555Val) c.1583A>T (p.Glu528Val) c.1580A>T (p.Glu527Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12995006T>C | CA8401040 | ELAC2 | c.1865A>G (p.Glu622Gly) c.1808A>G (p.Glu603Gly) c.1745A>G (p.Glu582Gly) n.1752A>G n.1694A>G n.2695A>G n.1411A>G n.442A>G c.1264A>G c.1862A>G (p.Glu621Gly) c.1946A>G (p.Glu649Gly) c.1826A>G (p.Glu609Gly) c.1664A>G (p.Glu555Gly) c.1583A>G (p.Glu528Gly) c.1580A>G (p.Glu527Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |