| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33166736C>T | CA127091 | COL11A2 | n.234+55G>A c.4322G>A (p.Gly1441Glu) c.4001G>A (p.Gly1334Glu) c.4064G>A (p.Gly1355Glu) n.273-920G>A c.3476G>A (p.Gly1159Glu) c.3608G>A (p.Gly1203Glu) c.3428G>A (p.Gly1143Glu) c.3365G>A (p.Gly1122Glu) c.3209G>A (p.Gly1070Glu) c.3140G>A (p.Gly1047Glu) | ClinVar dbSNP |
| 6 | g.33166736C= | CA1619892605 | COL11A2 | n.234+55G= c.4322G= (p.Gly1441=) c.4001G= (p.Gly1334=) c.4064G= (p.Gly1355=) n.273-920G= c.3476G= (p.Gly1159=) c.3608G= (p.Gly1203=) c.3428G= (p.Gly1143=) c.3365G= (p.Gly1122=) c.3209G= (p.Gly1070=) c.3140G= (p.Gly1047=) | dbSNP |