| 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 |
| 1 | g.102914362G>T | CA341160834 | COL11A1 | c.3968C>A (p.Pro1323His) c.3851C>A (p.Pro1284His) c.4004C>A (p.Pro1335His) c.3620C>A (p.Pro1207His) c.3302C>A c.2201C>A (p.Pro734His) c.1556C>A (p.Pro519His) n.4302C>A c.4121C>A (p.Pro1374His) c.4115C>A (p.Pro1372His) c.2519C>A (p.Pro840His) n.4328C>A | dbSNP |
| 1 | g.102914362G= | CA1139992651 | COL11A1 | c.3968C= (p.Pro1323=) c.3851C= (p.Pro1284=) c.4004C= (p.Pro1335=) c.3620C= (p.Pro1207=) c.3302C= c.2201C= (p.Pro734=) c.1556C= (p.Pro519=) n.4302C= c.4121C= (p.Pro1374=) c.4115C= (p.Pro1372=) c.2519C= (p.Pro840=) n.4328C= | dbSNP |