| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.103006314C>T | CA10588265 | COL11A1 | c.1685G>A (p.Gly562Asp) c.1838G>A (p.Gly613Asp) c.1568G>A (p.Gly523Asp) c.1721G>A (p.Gly574Asp) n.33G>A c.1337G>A (p.Gly446Asp) c.1003G>A c.-83G>A (n.-83G>A) c.-744G>A (n.-744G>A) n.2083G>A n.2003G>A c.1832G>A (p.Gly611Asp) c.236G>A (p.Gly79Asp) n.2029G>A | ClinVar dbSNP gnomAD v2 |
| 1 | g.103006314C= | CA1185283662 | COL11A1 | c.1685G= (p.Gly562=) c.1838G= (p.Gly613=) c.1568G= (p.Gly523=) c.1721G= (p.Gly574=) n.33G= c.1337G= (p.Gly446=) c.1003G= c.-83G= (n.-83G=) c.-744G= (n.-744G=) n.2083G= n.2003G= c.1832G= (p.Gly611=) c.236G= (p.Gly79=) n.2029G= | dbSNP |
| 1 | g.103006314C>A | CA341175237 | COL11A1 | c.1685G>T (p.Gly562Val) c.1838G>T (p.Gly613Val) c.1568G>T (p.Gly523Val) c.1721G>T (p.Gly574Val) n.33G>T c.1337G>T (p.Gly446Val) c.1003G>T c.-83G>T (n.-83G>T) c.-744G>T (n.-744G>T) n.2083G>T n.2003G>T c.1832G>T (p.Gly611Val) c.236G>T (p.Gly79Val) n.2029G>T | dbSNP gnomAD v4 |