| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102888582A>T | CA341212267 | COL11A1 | c.4603T>A (p.Ser1535Thr) c.4486T>A (p.Ser1496Thr) c.4639T>A (p.Ser1547Thr) c.4255T>A (p.Ser1419Thr) c.3937T>A c.2836T>A (p.Ser946Thr) c.2191T>A (p.Ser731Thr) n.4937T>A c.4756T>A (p.Ser1586Thr) c.4750T>A (p.Ser1584Thr) c.3154T>A (p.Ser1052Thr) n.4963T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.102888582A>G | CA212992 | COL11A1 | c.4603T>C (p.Ser1535Pro) c.4486T>C (p.Ser1496Pro) c.4639T>C (p.Ser1547Pro) c.4255T>C (p.Ser1419Pro) c.3937T>C c.2836T>C (p.Ser946Pro) c.2191T>C (p.Ser731Pro) n.4937T>C c.4756T>C (p.Ser1586Pro) c.4750T>C (p.Ser1584Pro) c.3154T>C (p.Ser1052Pro) n.4963T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.102888582A= | CA1139885973 | COL11A1 | c.4603T= (p.Ser1535=) c.4486T= (p.Ser1496=) c.4639T= (p.Ser1547=) c.4255T= (p.Ser1419=) c.3937T= c.2836T= (p.Ser946=) c.2191T= (p.Ser731=) n.4937T= c.4756T= (p.Ser1586=) c.4750T= (p.Ser1584=) c.3154T= (p.Ser1052=) n.4963T= | dbSNP |