| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45512225G>T | CA410502175 | COL18A1,SLC19A1 | c.4387G>T (p.Gly1463Trp) c.3847G>T (p.Gly1283Trp) c.1891G>T (p.Gly631Trp) c.5092G>T (p.Gly1698Trp) c.497+13592C>A c.801G>T n.2173G>T c.1293+13592C>A (n.1293+13592C>A) c.4378G>T (p.Gly1460Trp) c.5083G>T (p.Gly1695Trp) c.3838G>T (p.Gly1280Trp) c.1585-9256C>A (n.1585-9256C>A) | ClinVar dbSNP |
| 21 | g.45512225G>A | CA410502173 | COL18A1,SLC19A1 | c.4387G>A (p.Gly1463Arg) c.3847G>A (p.Gly1283Arg) c.1891G>A (p.Gly631Arg) c.5092G>A (p.Gly1698Arg) c.497+13592C>T c.801G>A n.2173G>A c.1293+13592C>T (n.1293+13592C>T) c.4378G>A (p.Gly1460Arg) c.5083G>A (p.Gly1695Arg) c.3838G>A (p.Gly1280Arg) c.1585-9256C>T (n.1585-9256C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45512225G= | CA2392196569 | COL18A1,SLC19A1 | c.4387G= (p.Gly1463=) c.3847G= (p.Gly1283=) c.1891G= (p.Gly631=) c.5092G= (p.Gly1698=) c.497+13592C= c.801G= n.2173G= c.1293+13592C= (n.1293+13592C=) c.4378G= (p.Gly1460=) c.5083G= (p.Gly1695=) c.3838G= (p.Gly1280=) c.1585-9256C= (n.1585-9256C=) | dbSNP |