| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102989562C>G | CA128539 | COL11A1 | c.2350G>C (p.Gly784Arg) c.2233G>C (p.Gly745Arg) c.2386G>C (p.Gly796Arg) c.2002G>C (p.Gly668Arg) c.1668G>C c.583G>C (p.Gly195Arg) c.-79G>C (n.-79G>C) n.2748G>C n.2668G>C c.2503G>C (p.Gly835Arg) c.2497G>C (p.Gly833Arg) c.901G>C (p.Gly301Arg) n.2694G>C | ClinVar dbSNP |
| 1 | g.102989562C= | CA1144228916 | COL11A1 | c.2350G= (p.Gly784=) c.2233G= (p.Gly745=) c.2386G= (p.Gly796=) c.2002G= (p.Gly668=) c.1668G= c.583G= (p.Gly195=) c.-79G= (n.-79G=) n.2748G= n.2668G= c.2503G= (p.Gly835=) c.2497G= (p.Gly833=) c.901G= (p.Gly301=) n.2694G= | dbSNP |