| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36218201G>A | CA10603921 | CLTA,GNE | c.2008C>T (p.Gln670Ter) c.1738C>T (p.Gln580Ter) c.1915C>T (p.Gln639Ter) c.1693C>T (p.Gln565Ter) c.485+14022G>A (n.485+14022G>A) c.1585C>T (p.Gln529Ter) c.1900C>T (p.Gln634Ter) c.1855C>T (p.Gln619Ter) c.1762C>T (p.Gln588Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36218201G>T | CA373424963 | CLTA,GNE | c.2008C>A (p.Gln670Lys) c.1738C>A (p.Gln580Lys) c.1915C>A (p.Gln639Lys) c.1693C>A (p.Gln565Lys) c.485+14022G>T (n.485+14022G>T) c.1585C>A (p.Gln529Lys) c.1900C>A (p.Gln634Lys) c.1855C>A (p.Gln619Lys) c.1762C>A (p.Gln588Lys) | dbSNP |