| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965749G>A | CA454662445 | GLI3 | c.3324C>T (p.Tyr1108=) c.3150C>T (p.Tyr1050=) n.3301C>T c.3147C>T (p.Tyr1049=) c.3321C>T (p.Tyr1107=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965749G>T | CA367318510 | GLI3 | c.3324C>A (p.Tyr1108Ter) c.3150C>A (p.Tyr1050Ter) n.3301C>A c.3147C>A (p.Tyr1049Ter) c.3321C>A (p.Tyr1107Ter) | ClinVar dbSNP |
| 7 | g.41965749G>C | CA342940 | GLI3 | c.3324C>G (p.Tyr1108Ter) c.3150C>G (p.Tyr1050Ter) n.3301C>G c.3147C>G (p.Tyr1049Ter) c.3321C>G (p.Tyr1107Ter) | ClinVar dbSNP |