| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33174048G>A | CA3750872 | COL11A2 | c.1065C>T c.2492C>T (p.Ser831Leu) c.2171C>T (p.Ser724Leu) c.2234C>T (p.Ser745Leu) n.272+2961C>T c.1646C>T (p.Ser549Leu) c.1778C>T (p.Ser593Leu) c.1598C>T (p.Ser533Leu) c.1535C>T (p.Ser512Leu) c.1379C>T (p.Ser460Leu) c.1310C>T (p.Ser437Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33174048G>T | CA127095 | COL11A2 | c.1065C>A c.2492C>A (p.Ser831Ter) c.2171C>A (p.Ser724Ter) c.2234C>A (p.Ser745Ter) n.272+2961C>A c.1646C>A (p.Ser549Ter) c.1778C>A (p.Ser593Ter) c.1598C>A (p.Ser533Ter) c.1535C>A (p.Ser512Ter) c.1379C>A (p.Ser460Ter) c.1310C>A (p.Ser437Ter) | ClinVar dbSNP |
| 6 | g.33174048G= | CA1619898204 | COL11A2 | c.1065C= c.2492C= (p.Ser831=) c.2171C= (p.Ser724=) c.2234C= (p.Ser745=) n.272+2961C= c.1646C= (p.Ser549=) c.1778C= (p.Ser593=) c.1598C= (p.Ser533=) c.1535C= (p.Ser512=) c.1379C= (p.Ser460=) c.1310C= (p.Ser437=) | dbSNP |