| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.103004633C>A | CA281694 | COL11A1 | c.1874G>T (p.Gly625Val) c.2027G>T (p.Gly676Val) c.1757G>T (p.Gly586Val) c.1910G>T (p.Gly637Val) n.222G>T c.1526G>T (p.Gly509Val) c.1192G>T c.107G>T (p.Gly36Val) c.-555G>T (n.-555G>T) n.2272G>T n.2192G>T c.2021G>T (p.Gly674Val) c.425G>T (p.Gly142Val) n.2218G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.103004633C= | CA1141580952 | COL11A1 | c.1874G= (p.Gly625=) c.2027G= (p.Gly676=) c.1757G= (p.Gly586=) c.1910G= (p.Gly637=) n.222G= c.1526G= (p.Gly509=) c.1192G= c.107G= (p.Gly36=) c.-555G= (n.-555G=) n.2272G= n.2192G= c.2021G= (p.Gly674=) c.425G= (p.Gly142=) n.2218G= | dbSNP |