| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102962750C>A | CA281061 | COL11A1 | c.2927G>T (p.Gly976Val) c.2810G>T (p.Gly937Val) c.2963G>T (p.Gly988Val) c.2579G>T (p.Gly860Val) c.2261G>T c.1160G>T (p.Gly387Val) c.515G>T (p.Gly172Val) n.3341G>T n.3261G>T c.3080G>T (p.Gly1027Val) c.3074G>T (p.Gly1025Val) c.1478G>T (p.Gly493Val) n.3287G>T | ClinVar dbSNP |
| 1 | g.102962750C= | CA1141580949 | COL11A1 | c.2927G= (p.Gly976=) c.2810G= (p.Gly937=) c.2963G= (p.Gly988=) c.2579G= (p.Gly860=) c.2261G= c.1160G= (p.Gly387=) c.515G= (p.Gly172=) n.3341G= n.3261G= c.3080G= (p.Gly1027=) c.3074G= (p.Gly1025=) c.1478G= (p.Gly493=) n.3287G= | dbSNP |