| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18539383G>A | CA301862 | CACNB2,NSUN6 | c.1498G>A (p.Gly500Ser) c.1363G>A (p.Gly455Ser) c.1486G>A (p.Gly496Ser) c.1558G>A (p.Gly520Ser) c.1642G>A (p.Gly548Ser) c.1480G>A (p.Gly494Ser) c.1267G>A (p.Gly423Ser) c.1444G>A (p.Gly482Ser) c.*783G>A (n.*783G>A) c.1384G>A (p.Gly462Ser) c.*916G>A (n.*916G>A) c.1199G>A (n.1199G>A) c.*881G>A (n.*881G>A) c.1462G>A (p.Gly488Ser) c.*742G>A (n.*742G>A) c.1570G>A (p.Gly524Ser) c.892G>A (p.Gly298Ser) c.1477G>A (p.Gly493Ser) c.1346G>A (n.1346G>A) c.154G>A (p.Gly52Ser) c.727G>A (p.Gly243Ser) c.1405G>A (p.Gly469Ser) c.1528G>A (p.Gly510Ser) c.802G>A (p.Gly268Ser) c.1408G>A (p.Gly470Ser) n.2423+2686C>T n.1767G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.18539383G= | CA1894173265 | CACNB2,NSUN6 | c.1498G= (p.Gly500=) c.1363G= (p.Gly455=) c.1486G= (p.Gly496=) c.1558G= (p.Gly520=) c.1642G= (p.Gly548=) c.1480G= (p.Gly494=) c.1267G= (p.Gly423=) c.1444G= (p.Gly482=) c.*783G= (n.*783G=) c.1384G= (p.Gly462=) c.*916G= (n.*916G=) c.1199G= (n.1199G=) c.*881G= (n.*881G=) c.1462G= (p.Gly488=) c.*742G= (n.*742G=) c.1570G= (p.Gly524=) c.892G= (p.Gly298=) c.1477G= (p.Gly493=) c.1346G= (n.1346G=) c.154G= (p.Gly52=) c.727G= (p.Gly243=) c.1405G= (p.Gly469=) c.1528G= (p.Gly510=) c.802G= (p.Gly268=) c.1408G= (p.Gly470=) n.2423+2686C= n.1767G= | dbSNP |