| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102946884C>G | CA128536 | COL11A1 | c.3241G>C (p.Gly1081Arg) c.3124G>C (p.Gly1042Arg) c.3277G>C (p.Gly1093Arg) c.2893G>C (p.Gly965Arg) c.2575G>C c.1474G>C (p.Gly492Arg) c.829G>C (p.Gly277Arg) n.3575G>C c.3394G>C (p.Gly1132Arg) c.3388G>C (p.Gly1130Arg) c.1792G>C (p.Gly598Arg) n.3601G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.102946884C= | CA1144228915 | COL11A1 | c.3241G= (p.Gly1081=) c.3124G= (p.Gly1042=) c.3277G= (p.Gly1093=) c.2893G= (p.Gly965=) c.2575G= c.1474G= (p.Gly492=) c.829G= (p.Gly277=) n.3575G= c.3394G= (p.Gly1132=) c.3388G= (p.Gly1130=) c.1792G= (p.Gly598=) n.3601G= | dbSNP |
| 1 | g.102946884C>T | CA341171012 | COL11A1 | c.3241G>A (p.Gly1081Ser) c.3124G>A (p.Gly1042Ser) c.3277G>A (p.Gly1093Ser) c.2893G>A (p.Gly965Ser) c.2575G>A c.1474G>A (p.Gly492Ser) c.829G>A (p.Gly277Ser) n.3575G>A c.3394G>A (p.Gly1132Ser) c.3388G>A (p.Gly1130Ser) c.1792G>A (p.Gly598Ser) n.3601G>A | dbSNP gnomAD v4 |