| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33177216C>G | CA3751090 | COL11A2 | c.554G>C c.1981G>C (p.Gly661Arg) c.1660G>C (p.Gly554Arg) c.1723G>C (p.Gly575Arg) n.200G>C c.1135G>C (p.Gly379Arg) c.1267G>C (p.Gly423Arg) c.1087G>C (p.Gly363Arg) c.1024G>C (p.Gly342Arg) c.868G>C (p.Gly290Arg) c.799G>C (p.Gly267Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33177216C>T | CA127087 | COL11A2 | c.554G>A c.1981G>A (p.Gly661Arg) c.1660G>A (p.Gly554Arg) c.1723G>A (p.Gly575Arg) n.200G>A c.1135G>A (p.Gly379Arg) c.1267G>A (p.Gly423Arg) c.1087G>A (p.Gly363Arg) c.1024G>A (p.Gly342Arg) c.868G>A (p.Gly290Arg) c.799G>A (p.Gly267Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33177216C= | CA1619899522 | COL11A2 | c.554G= c.1981G= (p.Gly661=) c.1660G= (p.Gly554=) c.1723G= (p.Gly575=) n.200G= c.1135G= (p.Gly379=) c.1267G= (p.Gly423=) c.1087G= (p.Gly363=) c.1024G= (p.Gly342=) c.868G= (p.Gly290=) c.799G= (p.Gly267=) | dbSNP |