| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102914362G>C | CA341160829 | COL11A1 | c.3968C>G (p.Pro1323Arg) c.3851C>G (p.Pro1284Arg) c.4004C>G (p.Pro1335Arg) c.3620C>G (p.Pro1207Arg) c.3302C>G c.2201C>G (p.Pro734Arg) c.1556C>G (p.Pro519Arg) n.4302C>G c.4121C>G (p.Pro1374Arg) c.4115C>G (p.Pro1372Arg) c.2519C>G (p.Pro840Arg) n.4328C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.102914362G>A | CA973754 | COL11A1 | c.3968C>T (p.Pro1323Leu) c.3851C>T (p.Pro1284Leu) c.4004C>T (p.Pro1335Leu) c.3620C>T (p.Pro1207Leu) c.3302C>T c.2201C>T (p.Pro734Leu) c.1556C>T (p.Pro519Leu) n.4302C>T c.4121C>T (p.Pro1374Leu) c.4115C>T (p.Pro1372Leu) c.2519C>T (p.Pro840Leu) n.4328C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |