| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36219894A>G | CA274075 | CLTA,GNE | c.1853T>C (p.Ile618Thr) c.1583T>C (p.Ile528Thr) c.1760T>C (p.Ile587Thr) c.1538T>C (p.Ile513Thr) c.485+15715A>G (n.485+15715A>G) c.1430T>C (p.Ile477Thr) c.1745T>C (p.Ile582Thr) c.1700T>C (p.Ile567Thr) c.1607T>C (p.Ile536Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36219894A= | CA1846328577 | CLTA,GNE | c.1853T= (p.Ile618=) c.1583T= (p.Ile528=) c.1760T= (p.Ile587=) c.1538T= (p.Ile513=) c.485+15715A= (n.485+15715A=) c.1430T= (p.Ile477=) c.1745T= (p.Ile582=) c.1700T= (p.Ile567=) c.1607T= (p.Ile536=) | dbSNP |