| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41966273C>G | CA130192 | GLI3 | c.2800G>C (p.Ala934Pro) c.2626G>C (p.Ala876Pro) n.2777G>C c.2623G>C (p.Ala875Pro) c.2797G>C (p.Ala933Pro) | ClinVar dbSNP |
| 7 | g.41966273C>T | CA367320316 | GLI3 | c.2800G>A (p.Ala934Thr) c.2626G>A (p.Ala876Thr) n.2777G>A c.2623G>A (p.Ala875Thr) c.2797G>A (p.Ala933Thr) | dbSNP gnomAD v4 |
| 7 | g.41966273C= | CA1702661213 | GLI3 | c.2800G= (p.Ala934=) c.2626G= (p.Ala876=) n.2777G= c.2623G= (p.Ala875=) c.2797G= (p.Ala933=) | dbSNP |