| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36219856C>T | CA10605332 | CLTA,GNE | c.1891G>A (p.Ala631Thr) c.1621G>A (p.Ala541Thr) c.1798G>A (p.Ala600Thr) c.1576G>A (p.Ala526Thr) c.485+15677C>T (n.485+15677C>T) c.1468G>A (p.Ala490Thr) c.1783G>A (p.Ala595Thr) c.1738G>A (p.Ala580Thr) c.1645G>A (p.Ala549Thr) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36219856C= | CA1846328356 | CLTA,GNE | c.1891G= (p.Ala631=) c.1621G= (p.Ala541=) c.1798G= (p.Ala600=) c.1576G= (p.Ala526=) c.485+15677C= (n.485+15677C=) c.1468G= (p.Ala490=) c.1783G= (p.Ala595=) c.1738G= (p.Ala580=) c.1645G= (p.Ala549=) | dbSNP |